Incidental Mutation 'IGL01609:Pole2'
ID91921
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 #IGL01609
Quality Score
Status
Chromosome12
Chromosomal Location69201773-69228195 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 69207857 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021359] [ENSMUST00000221411] [ENSMUST00000222699]
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 probably null
Transcript: ENSMUST00000221411
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221986
Predicted Effect probably benign
Transcript: ENSMUST00000222699
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A G 18: 61,822,021 V299A probably benign Het
Actr5 T C 2: 158,636,802 probably null Het
Arhgap18 A G 10: 26,880,748 D448G possibly damaging Het
Bcl9 T C 3: 97,208,975 E801G probably benign Het
Bin1 A G 18: 32,419,925 N232S probably damaging Het
Brf1 A C 12: 112,963,591 Y459D probably damaging Het
Clca4a T A 3: 144,953,780 I772F probably damaging Het
Cyp2a4 G A 7: 26,308,663 probably null Het
Dync1i2 T A 2: 71,247,008 probably benign Het
Frem3 T A 8: 80,612,704 M542K probably benign Het
Gm9992 A G 17: 7,369,739 V130A probably damaging Het
Gpbp1 T C 13: 111,439,202 T256A possibly damaging Het
Ighm T C 12: 113,421,234 probably benign Het
Igkv3-12 A G 6: 70,518,248 probably benign Het
Kdm4d A G 9: 14,464,418 V48A probably damaging Het
Lama2 T C 10: 27,344,421 S483G probably benign Het
Lbp A C 2: 158,328,412 Q464P probably damaging Het
Lipo4 T C 19: 33,499,254 T365A probably benign Het
Mark3 T C 12: 111,627,522 F274S probably damaging Het
Mcm3 A T 1: 20,814,680 probably benign Het
Mrpl9 T A 3: 94,444,694 F137I probably damaging Het
Msh4 G T 3: 153,897,397 A93E probably damaging Het
Mthfd1l T A 10: 4,018,567 D407E probably benign Het
Olfr101 C T 17: 37,299,738 R228H probably benign Het
Olfr1357 A C 10: 78,612,126 S172A probably benign Het
Olfr1406 G A 1: 173,184,276 H53Y probably benign Het
Pcsk2 G T 2: 143,801,158 V452L possibly damaging Het
Pcsk6 G A 7: 66,035,273 probably null Het
Pmfbp1 A G 8: 109,527,716 E461G probably benign Het
Postn T C 3: 54,369,228 M176T probably damaging Het
Prss12 T A 3: 123,482,834 C371S probably damaging Het
Rnf11 T A 4: 109,456,976 Q72L possibly damaging Het
Rrad A G 8: 104,629,824 probably null Het
Slitrk3 T A 3: 73,050,237 I401F probably damaging Het
Themis A G 10: 28,668,753 probably benign Het
Tmem45a A G 16: 56,811,565 I230T probably benign Het
Tnni1 C A 1: 135,805,496 probably null Het
Trpa1 A T 1: 14,912,383 I83N probably damaging Het
Uggt1 T C 1: 36,182,474 Y54C probably damaging Het
Umodl1 C T 17: 30,998,826 T1202I possibly damaging Het
Usp37 G A 1: 74,475,040 A324V probably benign Het
Zfp808 T A 13: 62,173,209 C751S 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
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 On2013-12-09