Polm polymerase (DNA directed), mu [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Polmprovided by MGI
Official Full Name: polymerase (DNA directed), muprovided by MGI
Primary source: MGI:MGI:1860191
See related: Ensembl:ENSMUSG00000020474 AllianceGenome:MGI:1860191
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: Tdt-N; B230309I03Rik
Summary: Predicted to enable DNA-directed DNA polymerase activity. Acts upstream of or within B cell differentiation and somatic hypermutation of immunoglobulin genes. Predicted to be active in nucleus. Is expressed in muscle tissue and retina. Orthologous to human POLM (DNA polymerase mu). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in spleen adult (RPKM 19.9), ovary adult (RPKM 12.7) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 A1; 11 3.87 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (5777860..5788831, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (5827860..5838832, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Interneurons in the CA1 stratum oriens expressing alphaTTP may play a role in the delayed-ageing Pol mu mouse model.
Title: Interneurons in the CA1 stratum oriens expressing αTTP may play a role in the delayed-ageing Pol μ mouse model.
The atomic structure of an NHEJ junction with a Pol x construct that mimics Pol mu in a reconstituted system explained the distinctive properties of Pol mu compared with TdT. The structure suggested a mechanism of base selection relying on Loop1 and taking instructions via the in trans templating base independently of the primer strand.
Title: Structural evidence for an in trans base selection mechanism involving Loop1 in polymerase μ at an NHEJ double-strand break junction.
Findings demonstrate that Polmu is necessary for proper retinal development, and support that the generation of DNA double-strand breaks and their repair via the non-homologous end-joining pathway are genuine processes involved in neural development.
Title: Increased neuronal death and disturbed axonal growth in the Polμ-deficient mouse embryonic retina.
A role for PolMU in the prevention of sarcomagenesis on a murine P53-deficient background was identified.
Title: Polμ deficiency induces moderate shortening of P53(-/-) mouse lifespan and modifies tumor spectrum.
Pol mu and Pol lambda play a key role in conferring on NHEJ the flexibility required for accurate and efficient repair
Title: Essential role for polymerase specialization in cellular nonhomologous end joining.
Polmu deficiency activates transcriptional networks that reduce constitutive apoptosis, leading to enhanced liver repair at old age.
Title: Polμ deficiency increases resistance to oxidative damage and delays liver aging.
DNA polymerase mu has a role in decreased learning and brain long-term potentiation in aged mice
Title: Increased learning and brain long-term potentiation in aged mice lacking DNA polymerase μ.
These data point to a critical role for pol mu as a global repair player that increases the efficiency and the fidelity of non-homologous end-joining.
Title: DNA polymerase μ is a global player in the repair of non-homologous end-joining substrates.
pronounced senescence in pololymerase mu deficient cells
Title: Lack of DNA polymerase μ affects the kinetics of DNA double-strand break repair and impacts on cellular senescence.
A series of molecular-dynamics simulations with and without the incoming nucleotide in various forms, including mutant systems, based on pol mu's crystal ternary structure, were analyzed.
Title: Modeling DNA polymerase μ motions: subtle transitions before chemistry.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

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

Chemically induced (ENU) (2)
Endonuclease-mediated (3)
Targeted (4) 1 citation

General gene information

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Markers

BB314690 (e-PCR)
- UniSTS:207625

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

AI462166 (e-PCR)
- UniSTS:165742

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-directed DNA polymerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-directed DNA polymerase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in DNA recombination	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via nonhomologous end joining	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within somatic hypermutation of immunoglobulin genes	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: DNA-directed DNA/RNA polymerase mu

Names: DNA polymerase mu; DNA-directed DNA polymerase mu; pol Mu; terminal transferase

NP_059097.2

EC 2.7.7.7

XP_006514821.1

EC 2.7.7.7

XP_006514822.1

EC 2.7.7.7

XP_030102018.1

EC 2.7.7.7

XP_036012744.1

EC 2.7.7.7

XP_036012745.1

EC 2.7.7.7

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_017401.2 → NP_059097.2 DNA-directed DNA/RNA polymerase mu

See identical proteins and their annotated locations for NP_059097.2

Status: VALIDATED

Source sequence(s)

AF176098, BC056996, CJ130894

Consensus CDS

CCDS24405.1

UniProtKB/Swiss-Prot

G5E840, Q9JIW4, Q9JJW9

UniProtKB/TrEMBL

Q7TN90

Related

ENSMUSP00000020767.4, ENSMUST00000020767.4

Conserved Domains (3) summary

cd00141
Location:156 → 494

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

smart00483
Location:152 → 495

POLXc; DNA polymerase X family

cd00027
Location:30 → 109

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

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_000077.7 Reference GRCm39 C57BL/6J

Range

5777860..5788831 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036156852.1 → XP_036012745.1 DNA-directed DNA/RNA polymerase mu isoform X3

Conserved Domains (1) summary

cd00141
Location:7 → 333

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_006514758.4 → XP_006514821.1 DNA-directed DNA/RNA polymerase mu isoform X3

Conserved Domains (1) summary

cd00141
Location:7 → 333

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_030246158.2 → XP_030102018.1 DNA-directed DNA/RNA polymerase mu isoform X2

Conserved Domains (1) summary

cd00141
Location:19 → 357

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases
XM_036156851.1 → XP_036012744.1 DNA-directed DNA/RNA polymerase mu isoform X1

UniProtKB/TrEMBL

Q7TN90

Conserved Domains (2) summary

cd00141
Location:85 → 423

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

cl00038
Location:1 → 52

BRCT; C-terminal domain of the breast cancer suppressor protein (BRCA1) and related domains
XM_006514759.5 → XP_006514822.1 DNA-directed DNA/RNA polymerase mu isoform X4

Conserved Domains (2) summary

cl00038
Location:27 → 123

BRCT; C-terminal domain of the breast cancer suppressor protein (BRCA1) and related domains

cl11966
Location:156 → 282

NT_Pol-beta-like; Nucleotidyltransferase (NT) domain of DNA polymerase beta and similar proteins