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Msh4 mutS homolog 4 [ Mus musculus (house mouse) ]

Gene ID: 55993, updated on 27-Nov-2024

Summary

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Official Symbol
Msh4provided by MGI
Official Full Name
mutS homolog 4provided by MGI
Primary source
MGI:MGI:1860077
See related
Ensembl:ENSMUSG00000005493 AllianceGenome:MGI:1860077
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
mMsh4; 4930485C04Rik
Summary
Predicted to enable double-stranded DNA binding activity. Acts upstream of or within several processes, including homologous chromosome pairing at meiosis; ovarian follicle development; and spermatogenesis. Located in recombination nodule and synaptonemal complex. Is expressed in several structures, including brain; gonad; heart; and thymus. Human ortholog(s) of this gene implicated in primary ovarian insufficiency and spermatogenic failure 2. Orthologous to human MSH4 (mutS homolog 4). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis adult (RPKM 2.5) and ovary adult (RPKM 0.1) See more
Orthologs
human all
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Genomic context

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See Msh4 in Genome Data Viewer
Location:
3 H3; 3 78.7 cM
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (153562783..153611495, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (153857141..153906138, complement)

Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 25757 Neighboring gene ankyrin repeat and SOCS box-containing 17 Neighboring gene ankyrin repeat and SOCS box-containing 17, opposite strand Neighboring gene predicted gene, 24395 Neighboring gene Rab geranylgeranyl transferase, b subunit Neighboring gene small nucleolar RNA, C/D box 45B Neighboring gene predicted gene, 24494

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Mouse MutS homolog 4 is predominantly expressed in testis and interacts with MutS homolog 5. Her C, et al. Mamm Genome, 2001 Jan. PMID 11178747
  2. Family of SRY/Sox proteins is involved in the regulation of the mouse Msh4 (MutS Homolog 4) gene expression. Santucci-Darmanin S, et al. Mol Reprod Dev, 2001 Oct. PMID 11553915
  3. Genomic organization of the mouse Msh4 gene producing bicistronic, chimeric and antisense mRNA. Hirano M, et al. Gene, 2004 Nov 10. PMID 15527976
  4. Impeding DNA Break Repair Enables Oocyte Quality Control. Qiao H, et al. Mol Cell, 2018 Oct 18. PMID 30270110, Free PMC Article
  5. Role for Msh5 in the regulation of Ig class switch recombination. Sekine H, et al. Proc Natl Acad Sci U S A, 2007 Apr 24. PMID 17409188, Free PMC Article

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Study suggests that the dynamic interchromosomal (intergenic) trans-splicing generates functional diversity of the mouse Msh4 gene.
    Title: Genomic organization of the mouse Msh4 gene producing bicistronic, chimeric and antisense mRNA.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (1)  1 citation

General gene information

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Markers

Homology

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 double-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables mismatched DNA binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within female gamete generation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within homologous chromosome pairing at meiosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within meiotic cell cycle IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within meiotic cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mismatch repair IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within ovarian follicle development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in reciprocal meiotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within spermatogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in chromosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in condensed chromosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in condensed nuclear chromosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in recombination nodule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in synaptonemal complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in synaptonemal complex ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 

General protein information

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Preferred Names
mutS protein homolog 4
Names
MutS homolog 4 variant iota 1
MutS homolog 4 variant theta 1

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)

  1. NM_001282054.2 → NP_001268983.1  mutS protein homolog 4 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains alternate exons in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC087184
    Consensus CDS
    CCDS80067.1
    UniProtKB/TrEMBL
    A0A087WQG8, A0A087WQN0
    Related
    ENSMUSP00000140265.2, ENSMUST00000190449.2
    Conserved Domains (5) summary
    smart00533
    Location:162 → 484
    MUTSd; DNA-binding domain of DNA mismatch repair MUTS family
    pfam00488
    Location:463 → 699
    MutS_V; MutS domain V
    pfam05188
    Location:1 → 121
    MutS_II; MutS domain II
    pfam05190
    Location:321 → 415
    MutS_IV; MutS family domain IV
    pfam05192
    Location:143 → 228
    MutS_III; MutS domain III

  2. NM_031870.4 → NP_114076.2  mutS protein homolog 4 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC087184
    Consensus CDS
    CCDS38678.1
    Related
    ENSMUSP00000005630.5, ENSMUST00000005630.11

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

  1. NC_000069.7 Reference GRCm39 C57BL/6J

    Range
    153562783..153611495 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99MT2.1 GenPept UniProtKB/Swiss-Prot:Q99MT2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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