Incidental Mutation 'R4670:Pole'
ID 348351
Institutional Source Beutler Lab
Gene Symbol Pole
Ensembl Gene ENSMUSG00000007080
Gene Name polymerase (DNA directed), epsilon
Synonyms pol-epsilon
MMRRC Submission 041926-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4670 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 110434185-110485319 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110454253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 923 (T923A)
Ref Sequence ENSEMBL: ENSMUSP00000007296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007296]
AlphaFold Q9WVF7
Predicted Effect probably benign
Transcript: ENSMUST00000007296
AA Change: T923A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000007296
Gene: ENSMUSG00000007080
AA Change: T923A

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
Meta Mutation Damage Score 0.0929 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (69/71)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 T A 7: 119,130,983 (GRCm39) probably null Het
Alb T A 5: 90,610,665 (GRCm39) S82T probably benign Het
Arf4 A G 14: 26,374,248 (GRCm39) probably benign Het
Arhgap22 T C 14: 33,084,500 (GRCm39) C260R probably damaging Het
Arhgap32 A G 9: 32,081,441 (GRCm39) E153G probably benign Het
Arhgef18 T A 8: 3,484,897 (GRCm39) M200K probably damaging Het
Atp1a4 T A 1: 172,062,567 (GRCm39) N647Y probably benign Het
Atp5f1c A T 2: 10,064,428 (GRCm39) L226Q probably damaging Het
Bcas1 T C 2: 170,226,245 (GRCm39) K310R probably damaging Het
Cadm3 T A 1: 173,174,013 (GRCm39) T67S probably damaging Het
Cartpt C T 13: 100,036,588 (GRCm39) probably null Het
Cenpj A T 14: 56,790,840 (GRCm39) V403E possibly damaging Het
Chst7 C A X: 19,927,110 (GRCm39) R386S probably damaging Het
Cyp4f37 A T 17: 32,844,126 (GRCm39) M77L probably benign Het
Dnah7b A T 1: 46,117,684 (GRCm39) D50V probably damaging Het
Galnt4 A G 10: 98,945,160 (GRCm39) D295G possibly damaging Het
Gin1 C T 1: 97,712,565 (GRCm39) P154S probably damaging Het
Gm6471 G A 7: 142,385,360 (GRCm39) noncoding transcript Het
Gm6818 T A 7: 38,101,981 (GRCm39) noncoding transcript Het
Gm9271 T A 7: 39,013,734 (GRCm39) noncoding transcript Het
Gpam A G 19: 55,084,551 (GRCm39) probably null Het
Gpr183 T C 14: 122,192,149 (GRCm39) D124G probably damaging Het
Ift140 C A 17: 25,317,935 (GRCm39) probably benign Het
Itih5 A C 2: 10,195,180 (GRCm39) I191L probably benign Het
Jcad A G 18: 4,674,175 (GRCm39) T646A probably benign Het
Kank1 T C 19: 25,387,944 (GRCm39) M511T probably benign Het
Krt74 A T 15: 101,667,304 (GRCm39) noncoding transcript Het
Lrrc37a A G 11: 103,395,363 (GRCm39) S21P probably benign Het
Lrrc8c G A 5: 105,756,240 (GRCm39) V672I probably benign Het
Lypd4 T C 7: 24,566,151 (GRCm39) R58G probably benign Het
Magi1 A T 6: 93,663,624 (GRCm39) probably null Het
Mefv T A 16: 3,526,071 (GRCm39) L745F possibly damaging Het
Myh13 A T 11: 67,255,564 (GRCm39) K1645* probably null Het
Naip6 A G 13: 100,431,239 (GRCm39) probably null Het
Nlrp1c-ps T C 11: 71,171,382 (GRCm39) noncoding transcript Het
Nsmce3 A T 7: 64,522,530 (GRCm39) L46Q probably benign Het
Or51aa2 A G 7: 103,188,393 (GRCm39) V16A possibly damaging Het
Or6k6 T A 1: 173,945,427 (GRCm39) M52L probably benign Het
Or8k37 T C 2: 86,469,512 (GRCm39) D180G possibly damaging Het
P2ry12 T C 3: 59,125,325 (GRCm39) probably null Het
Pcx T A 19: 4,669,916 (GRCm39) V861E probably damaging Het
Pkp3 C T 7: 140,662,612 (GRCm39) P75S probably benign Het
Plscr4 T C 9: 92,364,920 (GRCm39) probably null Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Rhot2 A C 17: 26,060,305 (GRCm39) probably benign Het
Rsrp1 A G 4: 134,651,488 (GRCm39) Y84C unknown Het
Sbf2 T C 7: 109,934,606 (GRCm39) K1348E probably damaging Het
Sgip1 A T 4: 102,726,951 (GRCm39) N53Y probably damaging Het
Snapc2 A G 8: 4,304,998 (GRCm39) T127A possibly damaging Het
Snx8 A G 5: 140,341,713 (GRCm39) probably null Het
Spag8 A G 4: 43,653,378 (GRCm39) probably benign Het
Srebf2 T C 15: 82,076,503 (GRCm39) F718L probably damaging Het
Szt2 C G 4: 118,233,026 (GRCm39) probably benign Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Tubgcp4 T A 2: 121,004,146 (GRCm39) Y62* probably null Het
Usp29 T A 7: 6,965,914 (GRCm39) S586T possibly damaging Het
Vasp T C 7: 18,998,350 (GRCm39) N108S probably benign Het
Vmn1r214 A G 13: 23,219,141 (GRCm39) M212V probably benign Het
Wipi2 G C 5: 142,645,345 (GRCm39) A194P probably benign Het
Zbtb4 T A 11: 69,667,355 (GRCm39) I220N probably damaging Het
Zcchc2 A T 1: 105,917,996 (GRCm39) probably benign Het
Zfp729a T A 13: 67,769,534 (GRCm39) K232* probably null Het
Zfp995 A T 17: 22,106,320 (GRCm39) M1K probably null 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
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
R5817:Pole UTSW 5 110,460,838 (GRCm39) missense probably damaging 1.00
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'- GTGTTGCTGTCAAAACCCTC -3'
(R):5'- ATGCATTGAGGGACCACTGC -3'

Sequencing Primer
(F):5'- GTGTTGCTGTCAAAACCCTCTACTAG -3'
(R):5'- ATTGAGGGACCACTGCTCCTC -3'
Posted On 2015-10-08