Incidental Mutation 'R9613:Pole4'
ID 724376
Institutional Source Beutler Lab
Gene Symbol Pole4
Ensembl Gene ENSMUSG00000030042
Gene Name polymerase (DNA-directed), epsilon 4 (p12 subunit)
Synonyms 2400007P05Rik, 5830430F06Rik
MMRRC Submission
Accession Numbers
Essential gene? Not available question?
Stock # R9613 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 82593513-82629985 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 82629099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 89 (Q89R)
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: Q89R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000093462
Gene: ENSMUSG00000030042
AA Change: Q89R

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 probably benign
Transcript: ENSMUST00000160281
AA Change: Q89R

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124357
Gene: ENSMUSG00000030042
AA Change: Q89R

DomainStartEndE-ValueType
Pfam:Histone 11 107 4e-14 PFAM
Pfam:CBFD_NFYB_HMF 40 104 9.8e-17 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G A 3: 137,771,126 (GRCm39) R105H probably damaging Het
Baz2b A T 2: 59,731,824 (GRCm39) N2071K probably benign Het
Chd9 C A 8: 91,683,150 (GRCm39) S530* probably null Het
Col6a6 G A 9: 105,616,401 (GRCm39) H1558Y probably benign Het
Cyp7a1 A G 4: 6,272,587 (GRCm39) F209L probably damaging Het
D430041D05Rik A G 2: 104,060,737 (GRCm39) Y702H probably benign Het
Ddx46 T A 13: 55,787,749 (GRCm39) probably null Het
Dgat2 C G 7: 98,831,692 (GRCm39) G10R probably benign Het
Dync2h1 T A 9: 7,075,769 (GRCm39) M3033L probably damaging Het
Eef1g A G 19: 8,955,018 (GRCm39) N367S probably benign Het
Eef2kmt T G 16: 5,067,272 (GRCm39) E94A possibly damaging Het
Ermp1 C A 19: 29,617,256 (GRCm39) probably null Het
Ewsr1 A C 11: 5,028,924 (GRCm39) D346E unknown Het
Fam227a G A 15: 79,518,284 (GRCm39) T340M probably benign Het
Fxr1 G A 3: 34,100,352 (GRCm39) V104I probably benign Het
Gm6176 A G 7: 21,750,529 (GRCm39) V134A possibly damaging Het
Igdcc4 G A 9: 65,027,522 (GRCm39) V195I possibly damaging Het
Ighv2-5 A G 12: 113,649,189 (GRCm39) I88T Het
Irf8 A T 8: 121,481,207 (GRCm39) T355S probably benign Het
Kif20b T A 19: 34,919,934 (GRCm39) S751T possibly damaging Het
Kitl A G 10: 99,916,781 (GRCm39) N195D probably damaging Het
Kmt2d CTGTTG CTG 15: 98,743,057 (GRCm39) probably benign Het
Macf1 A G 4: 123,420,288 (GRCm39) F322S probably benign Het
Map6 T C 7: 98,918,384 (GRCm39) S386P possibly damaging Het
Nup214 A G 2: 31,901,035 (GRCm39) D906G possibly damaging Het
Oacyl A C 18: 65,864,524 (GRCm39) T356P probably damaging Het
Or1e28-ps1 A T 11: 73,615,639 (GRCm39) D70E probably damaging Het
Or2at1 A G 7: 99,416,536 (GRCm39) T56A probably benign Het
Plekha1 C A 7: 130,479,488 (GRCm39) P2H probably damaging Het
Plekhg4 T A 8: 106,107,620 (GRCm39) D1050E probably damaging Het
Plxnb2 T C 15: 89,048,496 (GRCm39) T638A probably benign Het
Prg4 T C 1: 150,331,660 (GRCm39) T338A unknown Het
Prpf3 G A 3: 95,758,931 (GRCm39) R74* probably null Het
Prss44 C A 9: 110,643,806 (GRCm39) A150E probably damaging Het
Prss51 T A 14: 64,332,461 (GRCm39) V2E possibly damaging Het
Ptpn12 A G 5: 21,203,621 (GRCm39) Y386H probably damaging Het
Septin4 A T 11: 87,469,823 (GRCm39) H3L possibly damaging Het
Spata16 G A 3: 26,932,814 (GRCm39) V347M probably damaging Het
Spata31f1e A G 4: 42,792,992 (GRCm39) V380A probably benign Het
Spinkl T A 18: 44,301,212 (GRCm39) Y42F probably damaging Het
Suds3 A T 5: 117,243,234 (GRCm39) M168K possibly damaging Het
Tdrd6 A G 17: 43,939,518 (GRCm39) I510T probably damaging Het
Tnfrsf22 T C 7: 143,198,583 (GRCm39) H44R probably benign Het
Trh G A 6: 92,219,840 (GRCm39) R159* probably null Het
Ubr4 C A 4: 139,149,073 (GRCm39) S457R Het
Usp54 T C 14: 20,600,438 (GRCm39) Y1433C probably damaging Het
Vmn1r120 G A 7: 20,787,046 (GRCm39) L222F probably benign Het
Vmn2r22 T C 6: 123,615,075 (GRCm39) I172V probably damaging Het
Vmn2r84 A G 10: 130,226,591 (GRCm39) S416P probably damaging Het
Wapl T C 14: 34,453,520 (GRCm39) V855A probably benign Het
Zmynd19 A G 2: 24,848,217 (GRCm39) I177V Het
Zscan4e G A 7: 11,040,898 (GRCm39) Q325* probably null 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
R5741:Pole4 UTSW 6 82,628,447 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CATGTGGAAGGGTTACCAGG -3'
(R):5'- CTCACACAGAACTTGAAGGGG -3'

Sequencing Primer
(F):5'- GGTTACCAGGTAGACAAATAAACC -3'
(R):5'- TGGGCTAGAGTCCACTAA -3'
Posted On 2022-09-12