Incidental Mutation 'R5741:Pole4'
ID 444788
Institutional Source Beutler Lab
Gene Symbol Pole4
Ensembl Gene ENSMUSG00000030042
Gene Name polymerase (DNA-directed), epsilon 4 (p12 subunit)
Synonyms 2400007P05Rik, 5830430F06Rik
Accession Numbers
Essential gene? Not available question?
Stock # R5741 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 82593513-82629985 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82628447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 105 (E105G)
Ref Sequence ENSEMBL: ENSMUSP00000124357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095786] [ENSMUST00000160281]
AlphaFold Q9CQ36
Predicted Effect probably benign
Transcript: ENSMUST00000095786
AA Change: E105G

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000093462
Gene: ENSMUSG00000030042
AA Change: E105G

DomainStartEndE-ValueType
low complexity region 10 35 N/A INTRINSIC
Pfam:Histone 38 107 2.2e-13 PFAM
Pfam:CBFD_NFYB_HMF 40 104 1.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141138
Predicted Effect probably damaging
Transcript: ENSMUST00000160281
AA Change: E105G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124357
Gene: ENSMUSG00000030042
AA Change: E105G

DomainStartEndE-ValueType
Pfam:Histone 11 107 4e-14 PFAM
Pfam:CBFD_NFYB_HMF 40 104 9.8e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161309
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810010H24Rik T G 11: 106,919,315 (GRCm39) F220C probably damaging Het
Acox3 C T 5: 35,765,668 (GRCm39) H140Y probably benign Het
Ano3 A T 2: 110,488,618 (GRCm39) I938K probably benign Het
Ap3m1 A C 14: 21,095,788 (GRCm39) I14S possibly damaging Het
Arg1 T C 10: 24,793,897 (GRCm39) T127A probably benign Het
Asah2 A G 19: 31,986,015 (GRCm39) Y552H probably damaging Het
Cfap97d2 A T 8: 13,784,835 (GRCm39) Q32L possibly damaging Het
Chst12 A G 5: 140,509,688 (GRCm39) N105S probably benign Het
Cped1 G A 6: 22,123,620 (GRCm39) V458I probably benign Het
Cyld T G 8: 89,471,474 (GRCm39) I786S probably damaging Het
Cyp2j8 C T 4: 96,332,880 (GRCm39) V489I probably benign Het
Dlgap4 T C 2: 156,552,968 (GRCm39) Y462H probably damaging Het
Dnah5 C A 15: 28,246,513 (GRCm39) A617D probably benign Het
Erc2 T A 14: 28,024,826 (GRCm39) probably null Het
Fancm A G 12: 65,148,389 (GRCm39) N668S probably benign Het
Gm5592 A G 7: 40,938,625 (GRCm39) I636V probably benign Het
Gtf2h2 A T 13: 100,617,066 (GRCm39) C247S probably benign Het
Hyal5 T A 6: 24,876,494 (GRCm39) H122Q probably damaging Het
Ints10 G A 8: 69,257,574 (GRCm39) R258K probably damaging Het
Kir3dl1 G A X: 135,427,231 (GRCm39) D56N probably damaging Het
Lrguk T A 6: 34,025,802 (GRCm39) D199E probably damaging Het
Lyst A G 13: 13,808,615 (GRCm39) D95G probably benign Het
Map2k1 A T 9: 64,121,883 (GRCm39) L30Q possibly damaging Het
Nell1 G A 7: 50,210,638 (GRCm39) probably null Het
Nfatc3 T A 8: 106,805,698 (GRCm39) I181N probably damaging Het
Nipbl T C 15: 8,354,133 (GRCm39) K1668R possibly damaging Het
Or5b113 A G 19: 13,342,847 (GRCm39) N285S probably damaging Het
Or7e170 A G 9: 19,794,857 (GRCm39) V248A possibly damaging Het
Or8d2 T A 9: 38,759,899 (GRCm39) L163* probably null Het
Otud7b C T 3: 96,051,615 (GRCm39) T189I probably damaging Het
Pkia A T 3: 7,507,105 (GRCm39) E62D probably benign Het
Plcb3 G A 19: 6,931,790 (GRCm39) Q1154* probably null Het
Ppp1r3a A G 6: 14,719,882 (GRCm39) V344A probably damaging Het
Ptpn21 A T 12: 98,645,548 (GRCm39) L1130Q probably damaging Het
Rapgef5 A G 12: 117,719,764 (GRCm39) D564G probably damaging Het
Samhd1 C T 2: 156,954,751 (GRCm39) R387H probably benign Het
Spag1 A G 15: 36,183,849 (GRCm39) K65E possibly damaging Het
Spata31d1d A T 13: 59,876,500 (GRCm39) V345D possibly damaging Het
Spin1 G A 13: 51,303,171 (GRCm39) V255I possibly damaging Het
Tmem171 A G 13: 98,828,559 (GRCm39) V197A probably benign Het
Tmigd1 T C 11: 76,797,916 (GRCm39) V86A possibly damaging Het
Ttn T C 2: 76,542,417 (GRCm39) D31777G probably damaging Het
Tymp T A 15: 89,260,639 (GRCm39) M60L probably benign Het
Ugdh T C 5: 65,584,866 (GRCm39) T19A probably damaging Het
Vmn1r234 G T 17: 21,449,731 (GRCm39) C215F probably benign Het
Wnt5b T C 6: 119,410,690 (GRCm39) D250G probably damaging Het
Xrn1 T A 9: 95,927,604 (GRCm39) C1463S probably benign Het
Zfp831 T A 2: 174,486,945 (GRCm39) I540N possibly damaging Het
Zmynd8 T C 2: 165,681,937 (GRCm39) D189G probably damaging Het
Other mutations in Pole4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02141:Pole4 APN 6 82,625,015 (GRCm39) missense probably benign 0.06
R1792:Pole4 UTSW 6 82,629,721 (GRCm39) missense unknown
R1792:Pole4 UTSW 6 82,629,720 (GRCm39) missense unknown
R3767:Pole4 UTSW 6 82,599,095 (GRCm39) missense possibly damaging 0.59
R3768:Pole4 UTSW 6 82,599,095 (GRCm39) missense possibly damaging 0.59
R3769:Pole4 UTSW 6 82,599,095 (GRCm39) missense possibly damaging 0.59
R3770:Pole4 UTSW 6 82,599,095 (GRCm39) missense possibly damaging 0.59
R5534:Pole4 UTSW 6 82,629,115 (GRCm39) missense possibly damaging 0.51
R9613:Pole4 UTSW 6 82,629,099 (GRCm39) missense probably benign 0.26
Predicted Primers PCR Primer
(F):5'- TCCCTGTAGAATTTCTAATTCCCCAAG -3'
(R):5'- GCCTTGAACAGCATTTTCGC -3'

Sequencing Primer
(F):5'- AGAATTTCTAATTCCCCAAGAATGG -3'
(R):5'- CTGGCTTTTGAGGTGAGACAG -3'
Posted On 2016-11-21