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

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
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr5:110286319-110337468 bp, + strand
From NCBI annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

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

3 experiments

SNPs within 2kb

350 from dbSNP Build 142
Strain Annotations

18
PCR

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1196391	protein coding gene	Chr5:110286306-110337474 (.)
129S1/SvImJ	MGP_129S1SvImJ_G0029885	protein coding gene	Chr5:112733107-112785029 (+)
A/J	MGP_AJ_G0029850	protein coding gene	Chr5:108366929-108419023 (+)
AKR/J	MGP_AKRJ_G0029788	protein coding gene	Chr5:111823368-111874270 (+)
BALB/cJ	MGP_BALBcJ_G0029861	protein coding gene	Chr5:109732728-109784188 (+)
C3H/HeJ	MGP_C3HHeJ_G0029581	protein coding gene	Chr5:112241427-112293604 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0030314	protein coding gene	Chr5:117181482-117234141 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027543	protein coding gene	Chr5:103191595-103246194 (+)
CAST/EiJ	MGP_CASTEiJ_G0028989	protein coding gene	Chr5:111099954-111157432 (+)
CBA/J	MGP_CBAJ_G0029548	protein coding gene	Chr5:121581592-121646353 (+)
DBA/2J	MGP_DBA2J_G0029698	protein coding gene	Chr5:108431077-108483236 (+)
FVB/NJ	MGP_FVBNJ_G0029655	protein coding gene	Chr5:107104601-107158971 (+)
LP/J	MGP_LPJ_G0029786	protein coding gene	Chr5:113292641-113350275 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029686	protein coding gene	Chr5:126231948-126287551 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030355	protein coding gene	Chr5:111250072-111304321 (+)
PWK/PhJ	MGP_PWKPhJ_G0028703	protein coding gene	Chr5:107020457-107072262 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0028541	protein coding gene	Chr5:108713420-108765144 (+)
WSB/EiJ	MGP_WSBEiJ_G0029065	protein coding gene	Chr5:111702985-111773384 (+)

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

12 phenotypes from 2 alleles in 3 genetic backgrounds
5 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	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)

58 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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

43
GO References

6

External Resources

FuncBase

Molecular Function

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

Biological Process

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

170
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pole

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

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All Sequences

81
RefSeq

4
UniProt

10
CCDS

CCDS19525.1
UniGene

35061

Ensembl

ENSMUSG00000007080 (Evidence)
NCBI Gene

18973

			Length	Strain/Species	Flank
genomic	18973	NCBI Gene Model \| MGI Sequence Detail	51150	C57BL/6J	± kb
transcript	NM_011132	RefSeq \| MGI Sequence Detail	7167	C57BL/6
polypeptide	Q9WVF7	UniProt \| EBI \| MGI Sequence Detail	2283	Not Applicable

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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

IPR012337 Ribonuclease H-like superfamily

IPR036397 Ribonuclease H superfamily

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All nucleic 175

Genomic 2

cDNA 172

Primer pair 1

Microarray probesets 3

Summaries

All 43

Developmental Gene Expression 2

Gene Ontology 6

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:261973 Bellelli R, et al., Polepsilon Instability Drives Replication Stress, Abnormal Development, and Tumorigenesis. Mol Cell. 2018 May 17;70(4):707-721.e7

TSS for Pole:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr47885	Chr5:110286326-110286391 (+)	40 bp
Tssr47886	Chr5:110308801-110308806 (+)	22,485 bp
Tssr47887	Chr5:110327643-110327652 (+)	41,329 bp
Tssr1584	Chr5:110330692-110330701 (+)	44,378 bp
Tssr47888	Chr5:110330756-110330767 (+)	44,443 bp

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