Incidental Mutation 'IGL00930:Pole2'
ID28739
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pole2
Ensembl Gene ENSMUSG00000020974
Gene Namepolymerase (DNA directed), epsilon 2 (p59 subunit)
SynonymsDNA polymerase epsilon small subunit
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00930
Quality Score
Status
Chromosome12
Chromosomal Location69201773-69228195 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 69226445 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021359] [ENSMUST00000221411]
Predicted Effect probably benign
Transcript: ENSMUST00000021359
SMART Domains Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974

DomainStartEndE-ValueType
Pfam:Dpoe2NT 2 74 1.9e-32 PFAM
Pfam:DNA_pol_E_B 287 489 1.4e-58 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220745
Predicted Effect probably benign
Transcript: ENSMUST00000221411
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T C 7: 119,592,310 S534P possibly damaging Het
Adamts15 G A 9: 30,902,053 P939S probably damaging Het
Alms1 T C 6: 85,601,310 S207P probably damaging Het
Chd7 A G 4: 8,805,181 K747E probably damaging Het
Dock5 G T 14: 67,771,077 N1457K probably damaging Het
Donson T C 16: 91,682,591 E323G possibly damaging Het
Epc1 T A 18: 6,449,196 M434L probably benign Het
Fcer1a A G 1: 173,222,533 probably benign Het
Hemgn A T 4: 46,396,383 C284* probably null Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Olfr854 A G 9: 19,567,175 S67P probably damaging Het
Pcdh15 G A 10: 74,630,698 E1450K probably benign Het
Pfpl A T 19: 12,429,645 H420L probably benign Het
Pitpnm2 A G 5: 124,121,663 probably benign Het
Prmt3 T A 7: 49,792,009 Y245N probably damaging Het
Rpl10a T C 17: 28,329,007 Y41H probably damaging Het
Tpst1 A T 5: 130,102,134 K148N probably benign Het
Vmn1r199 A G 13: 22,382,859 T108A possibly damaging Het
Wdr7 T A 18: 63,740,244 C525* probably null Het
Zfp646 A G 7: 127,879,130 T160A possibly damaging Het
Other mutations in Pole2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00940:Pole2 APN 12 69215360 missense probably damaging 1.00
IGL01593:Pole2 APN 12 69223099 splice site probably null
IGL01609:Pole2 APN 12 69207857 critical splice donor site probably null
IGL01717:Pole2 APN 12 69213849 missense probably damaging 1.00
IGL02168:Pole2 APN 12 69201886 unclassified probably benign
IGL02208:Pole2 APN 12 69223162 missense possibly damaging 0.91
IGL02966:Pole2 APN 12 69209875 missense probably damaging 1.00
PIT4504001:Pole2 UTSW 12 69209985 nonsense probably null
R0069:Pole2 UTSW 12 69209887 missense probably damaging 1.00
R0069:Pole2 UTSW 12 69209887 missense probably damaging 1.00
R0396:Pole2 UTSW 12 69222386 splice site probably benign
R0574:Pole2 UTSW 12 69211457 splice site probably benign
R0620:Pole2 UTSW 12 69209879 missense probably damaging 1.00
R0685:Pole2 UTSW 12 69211413 missense probably damaging 0.98
R0791:Pole2 UTSW 12 69207929 missense probably benign 0.06
R1452:Pole2 UTSW 12 69207929 missense probably benign 0.06
R1453:Pole2 UTSW 12 69207929 missense probably benign 0.06
R1455:Pole2 UTSW 12 69207929 missense probably benign 0.06
R1912:Pole2 UTSW 12 69209990 missense probably damaging 0.99
R2067:Pole2 UTSW 12 69228152 missense probably benign 0.01
R2929:Pole2 UTSW 12 69209938 missense probably benign 0.13
R3016:Pole2 UTSW 12 69222062 missense probably benign 0.14
R4504:Pole2 UTSW 12 69222468 missense probably benign 0.00
R4765:Pole2 UTSW 12 69222052 missense possibly damaging 0.49
R4790:Pole2 UTSW 12 69226365 missense probably benign 0.00
R4896:Pole2 UTSW 12 69223150 missense probably damaging 0.97
R6998:Pole2 UTSW 12 69213906 missense possibly damaging 0.82
R7257:Pole2 UTSW 12 69202910 missense probably damaging 1.00
Posted On2013-04-17