Incidental Mutation 'R6394:Pole3'
ID 515924
Institutional Source Beutler Lab
Gene Symbol Pole3
Ensembl Gene ENSMUSG00000028394
Gene Name polymerase (DNA directed), epsilon 3 (p17 subunit)
Synonyms 1810034K18Rik, YBL1
MMRRC Submission 044543-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # R6394 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 62440889-62443305 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 62442263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030090] [ENSMUST00000030091] [ENSMUST00000062145] [ENSMUST00000107444] [ENSMUST00000128100]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030090
SMART Domains Protein: ENSMUSP00000030090
Gene: ENSMUSG00000028393

DomainStartEndE-ValueType
ALAD 2 327 1.56e-185 SMART
Predicted Effect unknown
Transcript: ENSMUST00000030091
AA Change: D119G
SMART Domains Protein: ENSMUSP00000030091
Gene: ENSMUSG00000028394
AA Change: D119G

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 8 73 1.8e-16 PFAM
low complexity region 95 142 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000062145
SMART Domains Protein: ENSMUSP00000050465
Gene: ENSMUSG00000058046

DomainStartEndE-ValueType
Pfam:DUF4647 22 481 7.3e-182 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107444
SMART Domains Protein: ENSMUSP00000103068
Gene: ENSMUSG00000028393

DomainStartEndE-ValueType
ALAD 2 327 1.56e-185 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128100
SMART Domains Protein: ENSMUSP00000114486
Gene: ENSMUSG00000028394

DomainStartEndE-ValueType
Pfam:CBFD_NFYB_HMF 8 50 3.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137448
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] POLE3 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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,760,029 (GRCm39) probably null Het
Alpi T A 1: 87,028,428 (GRCm39) Y154F possibly damaging Het
Als2 A T 1: 59,206,356 (GRCm39) F1635I probably damaging Het
Anxa1 C T 19: 20,361,213 (GRCm39) V60M probably damaging Het
Atp10b A G 11: 43,116,464 (GRCm39) Y937C probably damaging Het
Brd4 C A 17: 32,443,121 (GRCm39) E167* probably null Het
Cacna1h G A 17: 25,606,455 (GRCm39) T1048I probably benign Het
Ccdc113 A G 8: 96,283,820 (GRCm39) D298G probably benign Het
Cfap100 T A 6: 90,394,605 (GRCm39) N74I possibly damaging Het
Chd8 A T 14: 52,440,042 (GRCm39) H4Q possibly damaging Het
Clcn1 A G 6: 42,284,524 (GRCm39) T621A possibly damaging Het
Clcn1 A G 6: 42,290,172 (GRCm39) T843A possibly damaging Het
Clcn3 C T 8: 61,394,325 (GRCm39) R68Q probably damaging Het
Dcaf13 T A 15: 39,007,132 (GRCm39) N355K probably benign Het
Dnah6 A T 6: 73,132,401 (GRCm39) C1100* probably null Het
Dync2h1 A T 9: 7,168,331 (GRCm39) V428E probably damaging Het
E230025N22Rik T C 18: 36,819,839 (GRCm39) E317G probably damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Evc2 C A 5: 37,535,619 (GRCm39) D431E probably damaging Het
Gcm2 T G 13: 41,263,373 (GRCm39) T20P probably damaging Het
Gdf9 A G 11: 53,327,524 (GRCm39) Y160C probably damaging Het
Gm8220 A G 14: 44,523,134 (GRCm39) probably benign Het
Gpalpp1 A T 14: 76,344,852 (GRCm39) S44T possibly damaging Het
Grip2 T C 6: 91,764,182 (GRCm39) Y134C probably damaging Het
Hephl1 A G 9: 14,985,397 (GRCm39) F753S probably benign Het
Herc1 A G 9: 66,302,341 (GRCm39) T727A probably damaging Het
Herc2 A G 7: 55,865,729 (GRCm39) E4232G probably damaging Het
Ifi207 A G 1: 173,556,581 (GRCm39) L726P probably benign Het
Itga11 T A 9: 62,642,548 (GRCm39) probably null Het
Jrkl A C 9: 13,245,495 (GRCm39) Y55* probably null Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Kif18b A G 11: 102,805,236 (GRCm39) V303A probably damaging Het
Klhl29 A T 12: 5,144,830 (GRCm39) C423* probably null Het
Klhl29 T C 12: 5,187,720 (GRCm39) S215G probably benign Het
Lamp5 A G 2: 135,902,929 (GRCm39) D216G possibly damaging Het
Leo1 T A 9: 75,352,752 (GRCm39) D98E probably benign Het
Map3k3 T C 11: 106,039,709 (GRCm39) V283A probably benign Het
Med12l A G 3: 59,142,508 (GRCm39) K902E probably damaging Het
Mmp1b C A 9: 7,386,316 (GRCm39) D202Y probably benign Het
Muc21 A T 17: 35,931,058 (GRCm39) probably benign Het
Onecut3 A G 10: 80,331,847 (GRCm39) I336V probably damaging Het
Oprl1 C T 2: 181,360,795 (GRCm39) R257C probably damaging Het
Or10g9 T C 9: 39,912,001 (GRCm39) Q174R probably benign Het
Or10h1 G A 17: 33,418,487 (GRCm39) G155D probably damaging Het
Or4c11b C T 2: 88,625,296 (GRCm39) T190I probably benign Het
Or56b1 T A 7: 104,284,909 (GRCm39) N9K possibly damaging Het
Or56b1 T C 7: 104,285,234 (GRCm39) S118P possibly damaging Het
Or5p64 C T 7: 107,854,970 (GRCm39) R125H possibly damaging Het
Or6c69 G T 10: 129,747,789 (GRCm39) D119E probably damaging Het
Osbpl6 T C 2: 76,386,298 (GRCm39) V207A probably benign Het
Pde3a A T 6: 141,433,237 (GRCm39) H756L probably damaging Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Phyh A G 2: 4,940,814 (GRCm39) D238G probably benign Het
Pnliprp2 T A 19: 58,750,030 (GRCm39) N92K probably benign Het
Ppm1d T C 11: 85,230,498 (GRCm39) V372A probably benign Het
Prpf40a A T 2: 53,034,890 (GRCm39) I766N probably damaging Het
Prr5 T A 15: 84,583,925 (GRCm39) V175E probably damaging Het
Prss59 A T 6: 40,898,726 (GRCm39) L174* probably null Het
Ptprq T A 10: 107,478,804 (GRCm39) K1280* probably null Het
Rbp2 T A 9: 98,389,873 (GRCm39) V95E possibly damaging Het
Rictor T C 15: 6,798,790 (GRCm39) F346L possibly damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Scn10a T A 9: 119,490,386 (GRCm39) I519F probably benign Het
Setd5 T G 6: 113,092,505 (GRCm39) V295G probably damaging Het
Shcbp1 A T 8: 4,786,176 (GRCm39) M642K probably damaging Het
Slc13a3 C T 2: 165,276,017 (GRCm39) G243E probably damaging Het
Smg9 T C 7: 24,121,732 (GRCm39) Y498H probably damaging Het
Sox5 T C 6: 143,987,039 (GRCm39) D175G probably damaging Het
Stard7 A G 2: 127,126,161 (GRCm39) D71G probably damaging Het
Stxbp5 A T 10: 9,774,975 (GRCm39) Y59* probably null Het
Supt6 G A 11: 78,121,891 (GRCm39) R254C probably damaging Het
Syne2 C T 12: 76,037,269 (GRCm39) T3817I probably benign Het
Tas2r124 T A 6: 132,732,039 (GRCm39) I116N probably damaging Het
Trim9 T A 12: 70,301,987 (GRCm39) E550D possibly damaging Het
Vmn2r50 A G 7: 9,774,253 (GRCm39) S548P probably damaging Het
Zmynd8 C A 2: 165,687,943 (GRCm39) E126* probably null Het
Zswim9 A T 7: 12,994,889 (GRCm39) S422R probably damaging Het
Other mutations in Pole3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02430:Pole3 APN 4 62,443,056 (GRCm39) missense possibly damaging 0.71
R2248:Pole3 UTSW 4 62,443,250 (GRCm39) start gained probably benign
R3969:Pole3 UTSW 4 62,443,198 (GRCm39) missense possibly damaging 0.85
R5568:Pole3 UTSW 4 62,442,668 (GRCm39) missense probably damaging 0.96
R6902:Pole3 UTSW 4 62,442,300 (GRCm39) utr 3 prime probably benign
R7224:Pole3 UTSW 4 62,442,287 (GRCm39) missense unknown
R7689:Pole3 UTSW 4 62,443,060 (GRCm39) missense probably damaging 1.00
R9241:Pole3 UTSW 4 62,442,845 (GRCm39) critical splice donor site probably benign
R9449:Pole3 UTSW 4 62,442,277 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TTTGATCTCAGGCACCAGTG -3'
(R):5'- GACTGGTCATAACTCCCCTCTG -3'

Sequencing Primer
(F):5'- CACCAGTGCCGAAGATGG -3'
(R):5'- CTCTGTTTAGTTGGTACCATCTCGG -3'
Posted On 2018-05-04