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Pole Gene Detail
Summary
  • Symbol
    Pole
  • Name
    polymerase (DNA directed), epsilon
  • Synonyms
    pol-epsilon
  • Feature Type
    protein coding gene
  • IDs
    MGI:1196391
    NCBI Gene: 18973
  • Alliance
    genome feature page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:110434185-110485319 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 53.45 cM, cytoband E3-E5
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1398 from dbSNP Build 142
  • Strain Annotations
    19
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1196391
 protein coding gene Chr5:110434172-110485340 (+)
129S1/SvImJ ENSMUSG00200021645
 protein coding gene Chr5:104197895-104248901 (+)
A/J ENSMUSG00195032933
 protein coding gene Chr5:103679465-103730866 (+)
AKR/J ENSMUSG00220049473
 protein coding gene Chr5:103210270-103261306 (+)
BALB/cJ ENSMUSG00180041680
 protein coding gene Chr5:103831203-103882596 (+)
C3H/HeJ ENSMUSG00175038456
 protein coding gene Chr5:105816410-105868002 (+)
C57BL/6NJ ENSMUSG00215026589
 protein coding gene Chr5:103831394-103882559 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0027543
 protein coding gene Chr5:103191595-103246194 (+)
CAST/EiJ ENSTCUG00005028828
 protein coding gene Chr5:103012050-103063202 (+)
CBA/J ENSMUSG00210038371
 protein coding gene Chr5:104568547-104620130 (+)
DBA/2J ENSMUSG00185047386
 protein coding gene Chr5:107593966-107645476 (+)
FVB/NJ ENSMUSG00205050793
 protein coding gene Chr5:103468362-103519961 (+)
JF1/MsJ ENSUMUG00000005695
 protein coding gene Chr5:110443167-110495855 (+)
LP/J ENSMUSG00230046461
 protein coding gene Chr5:111736368-111787372 (+)
NOD/ShiLtJ ENSMUSG00190046777
 protein coding gene Chr5:103505096-103556505 (+)
NZO/HlLtJ ENSMUSG00225025134
 protein coding gene Chr5:119358221-119409228 (+)
PWK/PhJ ENSLUMG00010029763
 protein coding gene Chr5:102359306-102409963 (+)
SPRET/EiJ ENSMSPG00010039271
 protein coding gene Chr5:105603188-105653790 (+)
WSB/EiJ ENSIUOG00005036557
 protein coding gene Chr5:106208717-106259802 (+)



Homology
more
  • Human Ortholog
    POLE, DNA polymerase epsilon, catalytic subunit
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    POLE, DNA polymerase epsilon, catalytic subunit
  • Synonyms
    CRCS12, FILS, IMAGEI, POLE1
  • Links
    NCBI Gene ID: 5426
    UniProt: Q07864

  • Chr Location
    12q24.33; chr12:132623753-132687376 (-)  GRCh38
Human Diseases
more
  • Diseases
    8 with human POLE associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 2 alleles in 3 genetic backgrounds
    5 phenotypes from multigenic genotypes
    19 phenotype references
Phenotype Overview

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.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    54
  • GO References
    10
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

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
    692
  • Tissues
    95
  • cDNA Data
    170
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 18973 NCBI Gene Model | MGI Sequence Detail 51135 C57BL/6J ±  kb
    transcript NM_011132 RefSeq | MGI Sequence Detail 7167 ZRU/MplStud  
    polypeptide Q9WVF7 UniProt | EBI | MGI Sequence Detail 2283 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      10 Sequences
    • Protein Ontology
      PR:000012969 DNA polymerase epsilon catalytic subunit A
      (term hierarchy)
    • EC
      2.7.7.7, 3.1.11.-
    • InterPro Domains
      IPR006172 DNA-directed DNA polymerase, family B
      IPR006133 DNA-directed DNA polymerase, family B, exonuclease domain
      IPR029703 DNA polymerase epsilon catalytic subunit
      IPR013697 DNA polymerase epsilon, catalytic subunit A, C-terminal
      IPR055191 DNA polymerase epsilon ,catalytic subunit A, thumb domain
      IPR063197 DNA polymerase-epsilon, first zinc finger domain
      IPR054475 DNA polymerase-epsilon, zinc finger domain
      IPR042087 DNA polymerase family B, thumb domain
      IPR023211 DNA polymerase, palm domain superfamily
      IPR043502 DNA/RNA polymerase superfamily
      IPR012337 Ribonuclease H-like superfamily
      IPR036397 Ribonuclease H superfamily
    • GlyGen
      Q9WVF7 1 site
    Molecular
    Reagents
    less
    • All nucleic 175
      Genomic 2
      cDNA 172
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 60
      Developmental Gene Expression 3
      Gene Ontology 10
      Phenotypes 19
    • 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:364251 Sawant A, et al., Immune Checkpoint Blockade Delays Cancer Development and Extends Survival in DNA Polymerase Mutator Syndromes. Cancer Res. 2025 Mar 14;85(6):1130-1144
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory