Incidental Mutation 'IGL00940:Pole2'
ID28751
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 #IGL00940
Quality Score
Status
Chromosome12
Chromosomal Location69201773-69228195 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 69215360 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 148 (T148I)
Ref Sequence ENSEMBL: ENSMUSP00000152262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021359] [ENSMUST00000221411]
Predicted Effect probably damaging
Transcript: ENSMUST00000021359
AA Change: T148I

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021359
Gene: ENSMUSG00000020974
AA Change: T148I

DomainStartEndE-ValueType
Pfam:Dpoe2NT 2 74 1.9e-32 PFAM
Pfam:DNA_pol_E_B 287 489 1.4e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000221411
AA Change: T148I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221806
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anks1 A G 17: 28,057,354 N1024D probably damaging Het
Cts7 A G 13: 61,356,909 probably null Het
Dock3 T A 9: 106,911,377 probably benign Het
Fbxo6 A G 4: 148,146,110 F232L probably benign Het
Hsd3b6 A T 3: 98,806,624 F120I probably damaging Het
Il4ra G A 7: 125,569,175 probably null Het
Irs4 A T X: 141,722,144 F1019I unknown Het
Klc1 A G 12: 111,787,498 T464A probably damaging Het
Mical3 T C 6: 121,022,410 T660A possibly damaging Het
Ndufs7 T A 10: 80,255,121 V158E probably damaging Het
Nhs T A X: 161,837,230 N1510I probably damaging Het
Olfr1085 T G 2: 86,657,726 H244P probably damaging Het
Olfr78 A G 7: 102,742,262 V247A probably damaging Het
Pramel1 T A 4: 143,397,556 L267H probably damaging Het
Rag1 T C 2: 101,642,388 E803G probably damaging Het
Rassf1 G T 9: 107,558,311 probably benign Het
Rnf220 T C 4: 117,307,675 K210R probably benign Het
Setd7 T A 3: 51,533,038 D194V probably damaging Het
Snd1 T C 6: 28,745,175 probably benign Het
Ssb T A 2: 69,870,835 probably null Het
Tex37 C A 6: 70,913,388 R140L probably benign Het
Tlr5 T C 1: 182,974,196 V355A possibly damaging Het
Ush2a A T 1: 188,357,961 R414* probably null Het
Zfyve26 A G 12: 79,280,900 S559P probably benign Het
Other mutations in Pole2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00930:Pole2 APN 12 69226445 splice site probably benign
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
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 On2013-04-17