Incidental Mutation 'IGL01593:Pole2'
ID 91662
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 # IGL01593
Quality Score
Status
Chromosome 12
Chromosomal Location 69248547-69274969 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 69269873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021359] [ENSMUST00000221411]
AlphaFold O54956
Predicted Effect probably null
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 null
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 87,284,279 (GRCm39) I310N probably damaging Het
Abtb3 T A 10: 85,490,339 (GRCm39) probably benign Het
Ackr4 C T 9: 103,963,130 (GRCm39) probably benign Het
Ankib1 A T 5: 3,782,590 (GRCm39) D346E probably benign Het
Asap2 G T 12: 21,263,203 (GRCm39) A273S probably null Het
Atp6v0d2 C A 4: 19,881,436 (GRCm39) R219L probably damaging Het
Atp6v1e2 A T 17: 87,251,727 (GRCm39) F224I probably damaging Het
Bnc2 T C 4: 84,194,478 (GRCm39) probably null Het
Cd33 A G 7: 43,179,705 (GRCm39) L241P possibly damaging Het
Clec4g A T 8: 3,769,474 (GRCm39) probably null Het
Dym C T 18: 75,247,852 (GRCm39) probably benign Het
Enpp5 A G 17: 44,391,612 (GRCm39) T14A probably benign Het
Ggt1 T C 10: 75,421,121 (GRCm39) probably null Het
Gm17541 T A 12: 4,739,868 (GRCm39) probably benign Het
Gpr39 A T 1: 125,605,188 (GRCm39) I39F probably benign Het
Kcnb1 G T 2: 166,948,127 (GRCm39) F240L probably damaging Het
Kcnt1 T A 2: 25,788,766 (GRCm39) V400E probably damaging Het
Klhdc7a A G 4: 139,694,125 (GRCm39) I274T probably damaging Het
Lrwd1 A T 5: 136,163,483 (GRCm39) L71Q probably damaging Het
Mycbp2 A T 14: 103,528,723 (GRCm39) probably null Het
Nckap1 A T 2: 80,350,914 (GRCm39) M725K probably benign Het
Odad2 T C 18: 7,127,345 (GRCm39) K956R probably benign Het
Or2b7 T A 13: 21,739,389 (GRCm39) I268F probably damaging Het
Prss32 A G 17: 24,074,982 (GRCm39) T111A probably benign Het
Rgs9 A G 11: 109,139,875 (GRCm39) probably benign Het
Slc2a4 A G 11: 69,835,654 (GRCm39) C361R probably damaging Het
Ston1 G A 17: 88,944,438 (GRCm39) G615R probably null Het
Tas2r139 T G 6: 42,117,891 (GRCm39) W8G probably benign Het
Tmem101 A T 11: 102,046,704 (GRCm39) L55Q probably damaging Het
Tnni3k T C 3: 154,646,666 (GRCm39) probably null Het
Uba2 A G 7: 33,845,689 (GRCm39) V478A probably damaging Het
Vps13a T C 19: 16,739,545 (GRCm39) D52G 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
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
IGL02168:Pole2 APN 12 69,248,660 (GRCm39) unclassified probably benign
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 2013-12-09