Pole MGI Mouse Gene Detail - MGI:1196391 - polymerase (DNA directed), epsilon

Pole Gene Detail

Symbol

Pole
Name

polymerase (DNA directed), epsilon
Synonyms

pol-epsilon

Feature Type

protein coding gene
IDs

MGI:1196391
NCBI Gene: 18973
Gene Overview

MyGene.info: POLE

Sequence Map

Chr5:110286306-110337474 bp, + strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

51169 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 5, 53.45 cM, cytoband E3-E5
Mapping Data

3 experiments

Human Ortholog

POLE, DNA polymerase epsilon, catalytic subunit

Vertebrate Orthologs

9

Human Ortholog

POLE, DNA polymerase epsilon, catalytic subunit
Orthology source: HomoloGene, HGNC
Synonyms

CRCS12, FILS, POLE1
Links

HGNC:9177

NCBI Gene ID: 5426

neXtProt AC: NX_Q07864

UniProt: Q07864
Chr Location

12q24.33; chr12:132623762-132687524 (-) GRCh38.p7

HomoloGene

Vertebrate Homology Class 4539
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
HCOP

human homology predictions: POLE
Protein SuperFamily

DNA-directed DNA polymerase II
Gene Tree

Pole

Diseases

1 with human POLE associations

				Human Disease	Mouse Models
				colorectal cancer IDs colorectal cancer DOID:9256 KEGG:05210 MESH:D015179 OMIM:114500 OMIM:608812 OMIM:611469 OMIM:612229 OMIM:612230 OMIM:612231 OMIM:612232 OMIM:612589 OMIM:612590 OMIM:612591 OMIM:612592 OMIM:615083 UMLS_CUI:C1527249

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

11 phenotypes from 1 allele in 2 genetic backgrounds
6 phenotypes from multigenic genotypes
12 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

16
Chemically induced (other)

1
Gene trapped

12
Radiation induced

1
Targeted

1
Transgenic

1
Genomic Mutations

2 involving Pole
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

46 strains or lines available

Mice homozygous for a knock-in allele exhibit increased incidence of tumors and premature death. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7.

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All GO Annotations

35
GO References

5

External Resources

FuncBase

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	receptor	receptor binding	RNA binding	transcription	transferase	transporter

Biological Process

nucleic acid-templated transcription	carbohydrate derivative metabolism	cell death	cell differentiation	cell proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

94
Tissues

94
cDNA Data

169
Literature Summary

1

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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Pole interacts with 110 markers (Mir7-1, Mir7-2, Mir7b, ...) View All

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All Sequences

74
RefSeq

4
UniProt

10
CCDS

CCDS19525.1
UniGene

35061

			Length	Strain/Species	Flank
genomic	OTTMUSG00000026219	VEGA Gene Model \| MGI Sequence Detail	51169	C57BL/6J	± kb
transcript	OTTMUST00000064842	VEGA \| MGI Sequence Detail	7163	Not Applicable
polypeptide	OTTMUSP00000032240	VEGA \| MGI Sequence Detail	2283	Not Applicable

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SNPs within 2kb

350 from dbSNP Build 142

PCR

1

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UniProt

10 Sequences
Protein Ontology

PR:000012969 DNA polymerase epsilon catalytic subunit A

(term hierarchy)
EC

2.7.7.7
InterPro Domains

IPR006172 DNA-directed DNA polymerase, family B

IPR006133 DNA-directed DNA polymerase, family B, exonuclease domain

IPR006134 DNA-directed DNA polymerase, family B, multifunctional domain

IPR029703 DNA polymerase epsilon catalytic subunit

IPR013697 DNA polymerase epsilon, catalytic subunit A, C-terminal

IPR023211 DNA polymerase, palm domain

IPR012337 Ribonuclease H-like domain

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All nucleic 174

Genomic 2

cDNA 171

Primer pair 1

Microarray probesets 3

Summaries

All 39

Developmental Gene Expression 1

Gene Ontology 5

Phenotypes 12
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:153684 Albertson TM, et al., DNA polymerase epsilon and delta proofreading suppress discrete mutator and cancer phenotypes in mice. Proc Natl Acad Sci U S A. 2009 Oct 6;106(40):17101-4

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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