Msh3 mutS homolog 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Msh3provided by MGI
Official Full Name: mutS homolog 3provided by MGI
Primary source: MGI:MGI:109519
See related: Ensembl:ENSMUSG00000014850 AllianceGenome:MGI:109519
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rep3; REP-1; Rep-3; D13Em1
Summary: Enables centromeric DNA binding activity and damaged DNA binding activity. Acts upstream of or within mismatch repair and somatic recombination of immunoglobulin gene segments. Predicted to be part of MutSbeta complex. Predicted to be active in nucleus. Is expressed in early conceptus; oocyte; and secondary oocyte. Human ortholog(s) of this gene implicated in colorectal carcinoma; endometrial cancer; endometrial carcinoma; familial adenomatous polyposis 4; and lung non-small cell carcinoma. Orthologous to human MSH3 (mutS homolog 3). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 5.6), CNS E14 (RPKM 4.6) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 C3; 13 47.63 cM

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (92348387..92491515, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (92211878..92355004, complement)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Dose-dependent reduction of somatic expansions but not Htt aggregates by di-valent siRNA-mediated silencing of MSH3 in HdhQ111 mice.
Title: Dose-dependent reduction of somatic expansions but not Htt aggregates by di-valent siRNA-mediated silencing of MSH3 in HdhQ111 mice.
A novel quantitative trait locus implicates Msh3 in the propensity for genome-wide short tandem repeat expansions in mice.
Title: A novel quantitative trait locus implicates Msh3 in the propensity for genome-wide short tandem repeat expansions in mice.
Mutation of a critical residue within the ATPase domain of Msh3 did not preclude mismatch repair at the genomic sequences tested.
Title: An Msh3 ATPase domain mutation has no effect on MMR function.
MSH2-MSH3 suppresses chromosomal instability and modulates the tumor spectrum in p53-deficient tumorigenesis.
Title: The MutSβ complex is a modulator of p53-driven tumorigenesis through its functions in both DNA double-strand break repair and mismatch repair.
naturally occurring MSH3 protein polymorphisms are modifiers of CAG repeat instability, likely through variable MSH3 protein stability
Title: MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice.
Enhanced occupancy of Msh2 and Msh3 proteins downstream of the FXN expanded GAA repeat, suggesting a model in which Msh2/3 dimers are recruited to this region to repair mismatches.
Title: The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model.
Stress treatment of mouse cells with ethanol or hydrogen peroxide caused the re-distribution of MSH3 into nuclear bodies containing the proliferating cell nuclear antigen (PCNA), a known binding partner of MutSbeta.
Title: The mouse mismatch repair protein, MSH3, is a nucleoplasmic protein that aggregates into denser nuclear bodies under conditions of stress.
Frequencies and patterns in DNA mismatch repair in the context of mice deficient for Msh3.
Title: Differing patterns of genetic instability in mice deficient in the mismatch repair genes Pms2, Mlh1, Msh2, Msh3 and Msh6.
A (CTG)84 repeat was stable even in Msh3-deficient mice.
Title: Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins.
Data suggest that activation-induced cytidine deaminase has limited entry points into V and S regions in vivo, and subsequent mutation requires Msh2-Msh6, but not Msh3, and DNA polymerase.
Title: A role for Msh6 but not Msh3 in somatic hypermutation and class switch recombination.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC138237P1 (e-PCR)
- UniSTS:270863

M80360 (e-PCR)
- UniSTS:124981

UniSTS:498245 (e-PCR)
- UniSTS:498245

Msh3 (e-PCR), detects polymorphism
- UniSTS:498245

Msh3 (e-PCR), detects polymorphism
- UniSTS:546558

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP-dependent DNA damage sensor activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	IGI Inferred from Genetic Interaction more info	PubMed
enables centromeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables damaged DNA binding	IGI Inferred from Genetic Interaction more info	PubMed
contributes_to dinucleotide insertion or deletion binding	ISO Inferred from Sequence Orthology more info
contributes_to dinucleotide repeat insertion binding	ISO Inferred from Sequence Orthology more info
enables double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables enzyme binding	ISO Inferred from Sequence Orthology more info
enables mismatched DNA binding	IEA Inferred from Electronic Annotation more info
contributes_to mismatched DNA binding	ISO Inferred from Sequence Orthology more info
contributes_to single guanine insertion binding	ISO Inferred from Sequence Orthology more info
contributes_to single-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA repair	ISO Inferred from Sequence Orthology more info
involved_in maintenance of DNA repeat elements	ISO Inferred from Sequence Orthology more info
involved_in mismatch repair	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within mismatch repair	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within mismatch repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mismatch repair	ISO Inferred from Sequence Orthology more info
involved_in mitotic recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA recombination	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of helicase activity	ISO Inferred from Sequence Orthology more info
NOT acts_upstream_of_or_within somatic hypermutation of immunoglobulin genes	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in somatic recombination of immunoglobulin gene segments	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within somatic recombination of immunoglobulin gene segments	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of MutSbeta complex	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: DNA mismatch repair protein Msh3

Names: protein repair-1; protein repair-3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001311120.2 → NP_001298049.1 DNA mismatch repair protein Msh3 isoform 2

Status: VALIDATED

Source sequence(s)

AC155263, AC161588

Consensus CDS

CCDS79222.1

UniProtKB/TrEMBL

B2RWY6, E9QPY6

Related

ENSMUSP00000022220.8, ENSMUST00000022220.13

Conserved Domains (6) summary

COG0249
Location:183 → 1052

MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

pfam00488
Location:804 → 1051

MutS_V; MutS domain V

pfam01624
Location:188 → 301

MutS_I; MutS domain I

pfam05188
Location:324 → 481

MutS_II; MutS domain II

pfam05192
Location:498 → 613

MutS_III; MutS domain III

cl17822
Location:670 → 755

MutS_III; MutS domain III
NM_010829.3 → NP_034959.2 DNA mismatch repair protein Msh3 isoform 1

Status: VALIDATED

Source sequence(s)

AC155263, AC161588

Consensus CDS

CCDS49326.1

UniProtKB/TrEMBL

A0A087WQ16, B2RWY6

Related

ENSMUSP00000140002.2, ENSMUST00000185852.7

Conserved Domains (6) summary

COG0249
Location:183 → 1053

MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]

pfam00488
Location:804 → 1052

MutS_V; MutS domain V

pfam01624
Location:188 → 301

MutS_I; MutS domain I

pfam05188
Location:324 → 481

MutS_II; MutS domain II

pfam05192
Location:498 → 613

MutS_III; MutS domain III

cl17822
Location:670 → 755

MutS_III; MutS domain III

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

92348387..92491515 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036157896.1 → XP_036013789.1 DNA mismatch repair protein Msh3 isoform X2

Conserved Domains (1) summary

COG0249
Location:3 → 736

MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
XM_036157897.1 → XP_036013790.1 DNA mismatch repair protein Msh3 isoform X2

Conserved Domains (1) summary

COG0249
Location:3 → 736

MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
XM_017315412.3 → XP_017170901.1 DNA mismatch repair protein Msh3 isoform X2

Conserved Domains (1) summary

COG0249
Location:3 → 736

MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
XM_006517543.2 → XP_006517606.1 DNA mismatch repair protein Msh3 isoform X1

See identical proteins and their annotated locations for XP_006517606.1

UniProtKB/TrEMBL

B2RWY6

Conserved Domains (1) summary

COG0249
Location:1 → 857

MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
XM_006517542.2 → XP_006517605.1 DNA mismatch repair protein Msh3 isoform X1

See identical proteins and their annotated locations for XP_006517605.1

UniProtKB/TrEMBL

B2RWY6

Conserved Domains (1) summary

COG0249
Location:1 → 857

MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]
XM_017315413.2 → XP_017170902.1 DNA mismatch repair protein Msh3 isoform X2

Conserved Domains (1) summary

COG0249
Location:3 → 736

MutS; DNA mismatch repair ATPase MutS [Replication, recombination and repair]