Incidental Mutation 'IGL02168:Pole2'
ID282806
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 #IGL02168
Quality Score
Status
Chromosome12
Chromosomal Location69201773-69228195 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 69201886 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000021356] [ENSMUST00000021359] [ENSMUST00000221411] [ENSMUST00000222699]
Predicted Effect probably benign
Transcript: ENSMUST00000021356
SMART Domains Protein: ENSMUSP00000021356
Gene: ENSMUSG00000020973

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
Pfam:PIH1 43 352 2e-99 PFAM
low complexity region 360 373 N/A INTRINSIC
SCOP:d1keka4 398 460 4e-3 SMART
low complexity region 672 693 N/A INTRINSIC
low complexity region 734 743 N/A INTRINSIC
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: ENSMUST00000181850
SMART Domains Protein: ENSMUSP00000137753
Gene: ENSMUSG00000097061

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
low complexity region 46 59 N/A INTRINSIC
low complexity region 74 87 N/A INTRINSIC
low complexity region 113 132 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000221411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221986
Predicted Effect probably benign
Transcript: ENSMUST00000222699
Predicted Effect probably benign
Transcript: ENSMUST00000223192
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010007H06Rik T C 9: 51,280,501 probably benign Het
6030468B19Rik T A 11: 117,798,418 probably benign Het
Ankra2 G A 13: 98,273,374 probably benign Het
Astn1 C A 1: 158,609,341 A823E possibly damaging Het
Cd163l1 A T 7: 140,223,486 H321L probably benign Het
Cfap43 T C 19: 47,751,923 probably benign Het
Clec4b2 T A 6: 123,204,197 N180K probably damaging Het
Col7a1 A G 9: 108,984,075 probably benign Het
Dhrs7c T C 11: 67,815,867 F284L probably benign Het
Dock1 T C 7: 135,077,131 probably benign Het
Entpd5 A T 12: 84,386,978 probably null Het
Heatr5b A T 17: 78,831,591 probably benign Het
Kdm3a A G 6: 71,600,117 V738A probably damaging Het
Klf10 A T 15: 38,296,841 F318L probably damaging Het
Mcc A C 18: 44,449,299 I770S probably damaging Het
Muc19 C T 15: 91,894,098 noncoding transcript Het
Olfr460 A T 6: 40,571,383 probably benign Het
Pcdh17 A G 14: 84,533,195 T1038A probably benign Het
Polr2c A G 8: 94,857,766 R36G probably damaging Het
Ptgs2 A G 1: 150,103,679 probably null Het
Taf5 A G 19: 47,082,478 D747G probably damaging Het
Tll1 T G 8: 64,053,967 K580T possibly damaging Het
Tmc3 A T 7: 83,619,995 N768I possibly damaging Het
Top1 G T 2: 160,704,973 probably null Het
Ubtf T C 11: 102,314,168 K97E probably damaging Het
Vcl T C 14: 21,007,287 V509A probably benign Het
Vmn2r110 A T 17: 20,583,800 probably benign Het
Zfp106 A G 2: 120,534,231 V565A possibly damaging Het
Zfp458 A T 13: 67,258,034 C111S probably damaging Het
Other mutations in Pole2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00930:Pole2 APN 12 69226445 splice site probably benign
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
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
R7535:Pole2 UTSW 12 69222429 missense probably benign 0.10
R7841:Pole2 UTSW 12 69204258 missense probably damaging 1.00
R8437:Pole2 UTSW 12 69204187 nonsense probably null
R8506:Pole2 UTSW 12 69208960 missense probably benign
Posted On2015-04-16