Incidental Mutation 'R5817:Pole'
ID 449089
Institutional Source Beutler Lab
Gene Symbol Pole
Ensembl Gene ENSMUSG00000007080
Gene Name polymerase (DNA directed), epsilon
Synonyms pol-epsilon
MMRRC Submission 043397-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5817 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 110434185-110485319 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 110460838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 1176 (D1176N)
Ref Sequence ENSEMBL: ENSMUSP00000007296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007296]
AlphaFold Q9WVF7
Predicted Effect probably damaging
Transcript: ENSMUST00000007296
AA Change: D1176N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000007296
Gene: ENSMUSG00000007080
AA Change: D1176N

DomainStartEndE-ValueType
POLBc 267 870 9.42e-97 SMART
Blast:POLBc 903 970 1e-28 BLAST
Blast:POLBc 1014 1073 2e-22 BLAST
Blast:POLBc 1195 1266 7e-21 BLAST
low complexity region 1275 1294 N/A INTRINSIC
Blast:DUF1744 1401 1430 2e-7 BLAST
DUF1744 1524 1924 1.9e-236 SMART
coiled coil region 1936 1963 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131887
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182442
Meta Mutation Damage Score 0.5851 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit increased incidence of tumors and premature death. Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A G 4: 144,349,497 (GRCm39) I251M probably benign Het
Abcf3 T C 16: 20,367,833 (GRCm39) V63A possibly damaging Het
Agpat4 C T 17: 12,434,097 (GRCm39) probably benign Het
Ahcyl2 G A 6: 29,890,720 (GRCm39) V292M probably damaging Het
Ahnak2 A T 12: 112,740,437 (GRCm39) F406I probably damaging Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgef5 G A 6: 43,252,038 (GRCm39) D930N probably benign Het
Cc2d2a G A 5: 43,869,760 (GRCm39) R887Q probably damaging Het
Ceacam18 A G 7: 43,291,265 (GRCm39) T236A probably benign Het
Chst15 A T 7: 131,870,873 (GRCm39) Y221N probably damaging Het
Chst15 G A 7: 131,870,876 (GRCm39) L220F probably damaging Het
Cntn2 G A 1: 132,446,486 (GRCm39) T784I probably benign Het
D630003M21Rik A G 2: 158,038,413 (GRCm39) L1011P probably damaging Het
Dync2h1 T A 9: 6,996,905 (GRCm39) D3894V probably damaging Het
Eif1ad19 G T 12: 87,740,201 (GRCm39) D119E probably benign Het
Fam13b T C 18: 34,590,850 (GRCm39) M443V possibly damaging Het
Fam20a T A 11: 109,564,244 (GRCm39) Q503L possibly damaging Het
Ftdc2 T C 16: 58,457,156 (GRCm39) I89V probably benign Het
Gm11677 C T 11: 111,615,537 (GRCm39) noncoding transcript Het
Gm5454 T A 13: 103,493,140 (GRCm39) noncoding transcript Het
Gm5581 A G 6: 131,144,132 (GRCm39) noncoding transcript Het
Gm6619 A G 6: 131,463,400 (GRCm39) I6V unknown Het
Gmcl1 A G 6: 86,691,230 (GRCm39) M255T probably damaging Het
Golm2 T A 2: 121,736,525 (GRCm39) S231T probably benign Het
Gprc5c T A 11: 114,754,450 (GRCm39) C42* probably null Het
Hmcn1 T A 1: 150,613,275 (GRCm39) E1384V possibly damaging Het
Il6 A G 5: 30,223,006 (GRCm39) I91V probably benign Het
Kmt2d A T 15: 98,760,244 (GRCm39) S1005T unknown Het
Map1a A T 2: 121,129,391 (GRCm39) H143L possibly damaging Het
Mical2 A T 7: 111,922,866 (GRCm39) T624S probably benign Het
Msh3 A T 13: 92,422,508 (GRCm39) N549K possibly damaging Het
Ncr1 T A 7: 4,343,894 (GRCm39) I164N possibly damaging Het
Or10ak11 T G 4: 118,687,296 (GRCm39) T115P probably damaging Het
Or51a5 A T 7: 102,771,115 (GRCm39) M292K possibly damaging Het
Or52m1 A G 7: 102,289,585 (GRCm39) N44S probably damaging Het
Or8d2b A G 9: 38,788,673 (GRCm39) D67G probably damaging Het
Palmd T C 3: 116,712,272 (GRCm39) I541M probably benign Het
Pcsk7 A T 9: 45,837,331 (GRCm39) M552L probably benign Het
Plekhh2 A G 17: 84,879,154 (GRCm39) E626G possibly damaging Het
Polr2f T C 15: 79,035,869 (GRCm39) I110T probably damaging Het
Pomt1 A T 2: 32,138,691 (GRCm39) I436F probably damaging Het
Prag1 A C 8: 36,570,857 (GRCm39) Q480P probably damaging Het
Qars1 C T 9: 108,387,441 (GRCm39) probably benign Het
Ralgapa2 G A 2: 146,175,406 (GRCm39) S1797L probably damaging Het
Rbm26 T C 14: 105,366,039 (GRCm39) T832A probably damaging Het
Rnf169 A G 7: 99,574,976 (GRCm39) S540P probably benign Het
Serpini1 T A 3: 75,520,631 (GRCm39) M76K probably benign Het
Shq1 A G 6: 100,550,681 (GRCm39) L419S probably damaging Het
Slc25a17 G A 15: 81,211,261 (GRCm39) T225M probably damaging Het
Slc6a5 C A 7: 49,606,239 (GRCm39) L716I probably benign Het
Smc1b A G 15: 84,951,984 (GRCm39) V1149A probably damaging Het
Trappc1 A T 11: 69,215,060 (GRCm39) Q26L possibly damaging Het
Trpm2 C A 10: 77,801,814 (GRCm39) G84W probably damaging Het
Ttn G A 2: 76,573,010 (GRCm39) T24215M probably damaging Het
Ubn2 C A 6: 38,456,088 (GRCm39) T337K probably damaging Het
Ubr4 A G 4: 139,196,158 (GRCm39) K1265E probably damaging Het
Vmn1r214 T G 13: 23,219,491 (GRCm39) I328M probably damaging Het
Xcr1 C T 9: 123,684,922 (GRCm39) C280Y possibly damaging Het
Zc3h13 A G 14: 75,565,572 (GRCm39) E895G probably damaging Het
Other mutations in Pole
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Pole APN 5 110,451,431 (GRCm39) splice site probably benign
IGL00475:Pole APN 5 110,438,962 (GRCm39) nonsense probably null
IGL00837:Pole APN 5 110,449,875 (GRCm39) missense possibly damaging 0.91
IGL00976:Pole APN 5 110,471,438 (GRCm39) missense probably benign 0.00
IGL01081:Pole APN 5 110,485,106 (GRCm39) missense possibly damaging 0.92
IGL01503:Pole APN 5 110,451,750 (GRCm39) missense probably damaging 1.00
IGL01640:Pole APN 5 110,446,132 (GRCm39) missense probably null 0.08
IGL01987:Pole APN 5 110,485,098 (GRCm39) missense probably benign 0.01
IGL02429:Pole APN 5 110,447,666 (GRCm39) missense probably benign
IGL02733:Pole APN 5 110,460,594 (GRCm39) splice site probably benign
IGL03102:Pole APN 5 110,444,939 (GRCm39) missense probably damaging 1.00
IGL03157:Pole APN 5 110,441,619 (GRCm39) missense probably benign
IGL03186:Pole APN 5 110,447,786 (GRCm39) critical splice donor site probably null
IGL03271:Pole APN 5 110,466,185 (GRCm39) missense probably benign
IGL03351:Pole APN 5 110,449,864 (GRCm39) splice site probably benign
IGL03408:Pole APN 5 110,442,426 (GRCm39) missense probably damaging 1.00
IGL03410:Pole APN 5 110,472,425 (GRCm39) missense probably benign
ANU74:Pole UTSW 5 110,437,236 (GRCm39) missense probably benign 0.44
PIT4495001:Pole UTSW 5 110,451,780 (GRCm39) missense probably damaging 1.00
R0053:Pole UTSW 5 110,441,206 (GRCm39) missense probably damaging 1.00
R0053:Pole UTSW 5 110,441,206 (GRCm39) missense probably damaging 1.00
R0124:Pole UTSW 5 110,451,858 (GRCm39) missense probably damaging 0.96
R0145:Pole UTSW 5 110,472,291 (GRCm39) missense probably damaging 0.99
R0523:Pole UTSW 5 110,451,459 (GRCm39) missense probably damaging 0.96
R0590:Pole UTSW 5 110,465,792 (GRCm39) missense probably benign
R0625:Pole UTSW 5 110,473,416 (GRCm39) missense possibly damaging 0.50
R0707:Pole UTSW 5 110,446,854 (GRCm39) missense probably damaging 1.00
R1160:Pole UTSW 5 110,443,119 (GRCm39) missense possibly damaging 0.85
R1320:Pole UTSW 5 110,456,995 (GRCm39) frame shift probably null
R1384:Pole UTSW 5 110,471,530 (GRCm39) missense possibly damaging 0.81
R1626:Pole UTSW 5 110,441,235 (GRCm39) missense probably benign 0.25
R1643:Pole UTSW 5 110,465,711 (GRCm39) missense probably damaging 1.00
R1655:Pole UTSW 5 110,483,788 (GRCm39) missense probably damaging 1.00
R1668:Pole UTSW 5 110,445,235 (GRCm39) missense probably damaging 1.00
R1783:Pole UTSW 5 110,445,296 (GRCm39) missense probably damaging 1.00
R1843:Pole UTSW 5 110,478,701 (GRCm39) critical splice donor site probably null
R1853:Pole UTSW 5 110,454,719 (GRCm39) missense possibly damaging 0.95
R1867:Pole UTSW 5 110,482,063 (GRCm39) missense probably benign 0.08
R1874:Pole UTSW 5 110,471,530 (GRCm39) missense possibly damaging 0.81
R1891:Pole UTSW 5 110,480,408 (GRCm39) missense probably damaging 1.00
R1928:Pole UTSW 5 110,475,644 (GRCm39) missense probably benign
R2073:Pole UTSW 5 110,473,417 (GRCm39) missense probably damaging 0.99
R2341:Pole UTSW 5 110,478,829 (GRCm39) missense possibly damaging 0.67
R2448:Pole UTSW 5 110,444,958 (GRCm39) missense probably damaging 1.00
R2504:Pole UTSW 5 110,438,368 (GRCm39) splice site probably null
R3053:Pole UTSW 5 110,437,661 (GRCm39) missense probably damaging 1.00
R3892:Pole UTSW 5 110,484,305 (GRCm39) missense probably damaging 1.00
R3964:Pole UTSW 5 110,460,648 (GRCm39) missense probably damaging 1.00
R3965:Pole UTSW 5 110,460,648 (GRCm39) missense probably damaging 1.00
R4374:Pole UTSW 5 110,485,071 (GRCm39) missense possibly damaging 0.89
R4376:Pole UTSW 5 110,485,071 (GRCm39) missense possibly damaging 0.89
R4377:Pole UTSW 5 110,485,071 (GRCm39) missense possibly damaging 0.89
R4520:Pole UTSW 5 110,445,790 (GRCm39) missense probably damaging 1.00
R4670:Pole UTSW 5 110,454,253 (GRCm39) missense probably benign 0.01
R4778:Pole UTSW 5 110,478,698 (GRCm39) missense probably benign 0.00
R4887:Pole UTSW 5 110,472,619 (GRCm39) missense probably damaging 0.99
R4898:Pole UTSW 5 110,438,090 (GRCm39) critical splice acceptor site probably null
R5184:Pole UTSW 5 110,442,800 (GRCm39) missense possibly damaging 0.91
R5359:Pole UTSW 5 110,480,354 (GRCm39) missense probably benign 0.03
R5483:Pole UTSW 5 110,442,434 (GRCm39) missense probably damaging 1.00
R5529:Pole UTSW 5 110,480,332 (GRCm39) missense probably benign 0.20
R5576:Pole UTSW 5 110,459,931 (GRCm39) nonsense probably null
R5877:Pole UTSW 5 110,480,329 (GRCm39) missense probably benign
R5956:Pole UTSW 5 110,485,153 (GRCm39) unclassified probably benign
R5990:Pole UTSW 5 110,450,010 (GRCm39) missense probably damaging 1.00
R6019:Pole UTSW 5 110,472,381 (GRCm39) missense probably benign 0.01
R6019:Pole UTSW 5 110,472,380 (GRCm39) missense probably benign 0.01
R6093:Pole UTSW 5 110,459,956 (GRCm39) missense probably benign 0.01
R6376:Pole UTSW 5 110,484,240 (GRCm39) missense probably damaging 0.99
R6494:Pole UTSW 5 110,472,588 (GRCm39) missense possibly damaging 0.86
R6535:Pole UTSW 5 110,472,673 (GRCm39) missense probably damaging 1.00
R6723:Pole UTSW 5 110,471,482 (GRCm39) missense probably benign 0.11
R6757:Pole UTSW 5 110,451,476 (GRCm39) missense probably damaging 1.00
R6930:Pole UTSW 5 110,441,156 (GRCm39) missense probably benign 0.01
R6988:Pole UTSW 5 110,477,449 (GRCm39) missense probably damaging 0.97
R6992:Pole UTSW 5 110,480,365 (GRCm39) missense probably damaging 0.99
R7067:Pole UTSW 5 110,482,084 (GRCm39) missense probably damaging 1.00
R7097:Pole UTSW 5 110,472,968 (GRCm39) splice site probably null
R7122:Pole UTSW 5 110,472,968 (GRCm39) splice site probably null
R7202:Pole UTSW 5 110,444,973 (GRCm39) missense possibly damaging 0.94
R7340:Pole UTSW 5 110,482,330 (GRCm39) missense probably benign 0.06
R7345:Pole UTSW 5 110,451,769 (GRCm39) missense possibly damaging 0.82
R7509:Pole UTSW 5 110,478,571 (GRCm39) start gained probably benign
R7557:Pole UTSW 5 110,460,860 (GRCm39) missense probably damaging 1.00
R7740:Pole UTSW 5 110,478,907 (GRCm39) missense probably benign 0.00
R7792:Pole UTSW 5 110,445,332 (GRCm39) splice site probably null
R7832:Pole UTSW 5 110,465,663 (GRCm39) missense probably benign 0.00
R7849:Pole UTSW 5 110,480,414 (GRCm39) missense probably benign 0.04
R7852:Pole UTSW 5 110,454,695 (GRCm39) missense probably damaging 1.00
R7960:Pole UTSW 5 110,437,727 (GRCm39) missense possibly damaging 0.81
R8001:Pole UTSW 5 110,460,600 (GRCm39) missense probably damaging 1.00
R8266:Pole UTSW 5 110,442,786 (GRCm39) missense probably damaging 1.00
R8510:Pole UTSW 5 110,482,312 (GRCm39) missense probably damaging 0.99
R8793:Pole UTSW 5 110,445,614 (GRCm39) missense probably damaging 1.00
R8835:Pole UTSW 5 110,454,775 (GRCm39) missense probably damaging 1.00
R8863:Pole UTSW 5 110,437,233 (GRCm39) missense possibly damaging 0.94
R8929:Pole UTSW 5 110,445,654 (GRCm39) missense probably damaging 0.98
R8968:Pole UTSW 5 110,459,949 (GRCm39) missense possibly damaging 0.78
R8992:Pole UTSW 5 110,471,488 (GRCm39) missense possibly damaging 0.88
R9018:Pole UTSW 5 110,437,675 (GRCm39) missense probably benign 0.37
R9177:Pole UTSW 5 110,480,288 (GRCm39) missense probably benign 0.04
R9250:Pole UTSW 5 110,447,687 (GRCm39) missense possibly damaging 0.88
R9262:Pole UTSW 5 110,473,423 (GRCm39) missense probably damaging 1.00
R9262:Pole UTSW 5 110,473,422 (GRCm39) missense probably damaging 0.99
R9367:Pole UTSW 5 110,444,955 (GRCm39) missense probably damaging 0.99
R9383:Pole UTSW 5 110,438,892 (GRCm39) missense possibly damaging 0.61
R9626:Pole UTSW 5 110,459,959 (GRCm39) missense possibly damaging 0.68
R9676:Pole UTSW 5 110,443,431 (GRCm39) missense probably benign 0.00
R9720:Pole UTSW 5 110,484,909 (GRCm39) missense probably benign 0.01
R9787:Pole UTSW 5 110,465,866 (GRCm39) critical splice donor site probably null
R9794:Pole UTSW 5 110,466,201 (GRCm39) missense probably benign 0.01
X0064:Pole UTSW 5 110,465,770 (GRCm39) nonsense probably null
Y5377:Pole UTSW 5 110,442,757 (GRCm39) critical splice acceptor site probably null
Y5380:Pole UTSW 5 110,442,757 (GRCm39) critical splice acceptor site probably null
Z1088:Pole UTSW 5 110,475,731 (GRCm39) missense possibly damaging 0.66
Z1177:Pole UTSW 5 110,444,875 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGAGTGCCATCCAGAAAATC -3'
(R):5'- GGGCAGAAATCTCAGTTTCACAC -3'

Sequencing Primer
(F):5'- GGAGTGCCATCCAGAAAATCATCAC -3'
(R):5'- TCAGTTTCACACCAGTCATAGGG -3'
Posted On 2016-12-20