Incidental Mutation 'IGL02168:Pole2'
ID 282806
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pole2
Ensembl Gene ENSMUSG00000020974
Gene Name polymerase (DNA directed), epsilon 2 (p59 subunit)
Synonyms DNA polymerase epsilon small subunit
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02168
Quality Score
Status
Chromosome 12
Chromosomal Location 69248547-69274969 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 69248660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000021356] [ENSMUST00000021359] [ENSMUST00000221411] [ENSMUST00000222699]
AlphaFold O54956
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: 51,191,801 (GRCm39) probably benign Het
6030468B19Rik T A 11: 117,689,244 (GRCm39) probably benign Het
Ankra2 G A 13: 98,409,882 (GRCm39) probably benign Het
Astn1 C A 1: 158,436,911 (GRCm39) A823E possibly damaging Het
Cfap43 T C 19: 47,740,362 (GRCm39) probably benign Het
Clec4b2 T A 6: 123,181,156 (GRCm39) N180K probably damaging Het
Col7a1 A G 9: 108,813,143 (GRCm39) probably benign Het
Dhrs7c T C 11: 67,706,693 (GRCm39) F284L probably benign Het
Dock1 T C 7: 134,678,860 (GRCm39) probably benign Het
Entpd5 A T 12: 84,433,752 (GRCm39) probably null Het
Heatr5b A T 17: 79,139,020 (GRCm39) probably benign Het
Kdm3a A G 6: 71,577,101 (GRCm39) V738A probably damaging Het
Klf10 A T 15: 38,297,085 (GRCm39) F318L probably damaging Het
Mcc A C 18: 44,582,366 (GRCm39) I770S probably damaging Het
Muc19 C T 15: 91,778,292 (GRCm39) noncoding transcript Het
Or9a4 A T 6: 40,548,317 (GRCm39) probably benign Het
Pcdh17 A G 14: 84,770,635 (GRCm39) T1038A probably benign Het
Polr2c A G 8: 95,584,394 (GRCm39) R36G probably damaging Het
Ptgs2 A G 1: 149,979,430 (GRCm39) probably null Het
Scart1 A T 7: 139,803,399 (GRCm39) H321L probably benign Het
Taf5 A G 19: 47,070,917 (GRCm39) D747G probably damaging Het
Tll1 T G 8: 64,507,001 (GRCm39) K580T possibly damaging Het
Tmc3 A T 7: 83,269,203 (GRCm39) N768I possibly damaging Het
Top1 G T 2: 160,546,893 (GRCm39) probably null Het
Ubtf T C 11: 102,204,994 (GRCm39) K97E probably damaging Het
Vcl T C 14: 21,057,355 (GRCm39) V509A probably benign Het
Vmn2r110 A T 17: 20,804,062 (GRCm39) probably benign Het
Zfp106 A G 2: 120,364,712 (GRCm39) V565A possibly damaging Het
Zfp458 A T 13: 67,406,098 (GRCm39) C111S probably damaging Het
Other mutations in Pole2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00930:Pole2 APN 12 69,273,219 (GRCm39) splice site probably benign
IGL00940:Pole2 APN 12 69,262,134 (GRCm39) missense probably damaging 1.00
IGL01593:Pole2 APN 12 69,269,873 (GRCm39) splice site probably null
IGL01609:Pole2 APN 12 69,254,631 (GRCm39) critical splice donor site probably null
IGL01717:Pole2 APN 12 69,260,623 (GRCm39) missense probably damaging 1.00
IGL02208:Pole2 APN 12 69,269,936 (GRCm39) missense possibly damaging 0.91
IGL02966:Pole2 APN 12 69,256,649 (GRCm39) missense probably damaging 1.00
PIT4504001:Pole2 UTSW 12 69,256,759 (GRCm39) nonsense probably null
R0069:Pole2 UTSW 12 69,256,661 (GRCm39) missense probably damaging 1.00
R0069:Pole2 UTSW 12 69,256,661 (GRCm39) missense probably damaging 1.00
R0396:Pole2 UTSW 12 69,269,160 (GRCm39) splice site probably benign
R0574:Pole2 UTSW 12 69,258,231 (GRCm39) splice site probably benign
R0620:Pole2 UTSW 12 69,256,653 (GRCm39) missense probably damaging 1.00
R0685:Pole2 UTSW 12 69,258,187 (GRCm39) missense probably damaging 0.98
R0791:Pole2 UTSW 12 69,254,703 (GRCm39) missense probably benign 0.06
R1452:Pole2 UTSW 12 69,254,703 (GRCm39) missense probably benign 0.06
R1453:Pole2 UTSW 12 69,254,703 (GRCm39) missense probably benign 0.06
R1455:Pole2 UTSW 12 69,254,703 (GRCm39) missense probably benign 0.06
R1912:Pole2 UTSW 12 69,256,764 (GRCm39) missense probably damaging 0.99
R2067:Pole2 UTSW 12 69,274,926 (GRCm39) missense probably benign 0.01
R2929:Pole2 UTSW 12 69,256,712 (GRCm39) missense probably benign 0.13
R3016:Pole2 UTSW 12 69,268,836 (GRCm39) missense probably benign 0.14
R4504:Pole2 UTSW 12 69,269,242 (GRCm39) missense probably benign 0.00
R4765:Pole2 UTSW 12 69,268,826 (GRCm39) missense possibly damaging 0.49
R4790:Pole2 UTSW 12 69,273,139 (GRCm39) missense probably benign 0.00
R4896:Pole2 UTSW 12 69,269,924 (GRCm39) missense probably damaging 0.97
R6998:Pole2 UTSW 12 69,260,680 (GRCm39) missense possibly damaging 0.82
R7257:Pole2 UTSW 12 69,249,684 (GRCm39) missense probably damaging 1.00
R7535:Pole2 UTSW 12 69,269,203 (GRCm39) missense probably benign 0.10
R7841:Pole2 UTSW 12 69,251,032 (GRCm39) missense probably damaging 1.00
R8437:Pole2 UTSW 12 69,250,961 (GRCm39) nonsense probably null
R8506:Pole2 UTSW 12 69,255,734 (GRCm39) missense probably benign
R9467:Pole2 UTSW 12 69,255,719 (GRCm39) missense probably benign 0.40
R9494:Pole2 UTSW 12 69,249,731 (GRCm39) missense possibly damaging 0.73
Posted On 2015-04-16