Incidental Mutation 'R9449:Pole3'
ID 714119
Institutional Source Beutler Lab
Gene Symbol Pole3
Ensembl Gene ENSMUSG00000028394
Gene Name polymerase (DNA directed), epsilon 3 (p17 subunit)
Synonyms 1810034K18Rik, YBL1
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.926) question?
Stock # R9449 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 62440889-62443305 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 62442277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 114 (D114E)
Ref Sequence ENSEMBL: ENSMUSP00000030091 (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: D114E
SMART Domains Protein: ENSMUSP00000030091
Gene: ENSMUSG00000028394
AA Change: D114E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Aarsd1 A C 11: 101,301,597 (GRCm39) S262A probably benign Het
Abhd17c A G 7: 83,763,637 (GRCm39) Y189H probably damaging Het
Adam33 T C 2: 130,895,606 (GRCm39) R570G possibly damaging Het
Alpk2 G A 18: 65,424,464 (GRCm39) R1441W probably damaging Het
Arhgap21 A G 2: 20,885,464 (GRCm39) V581A probably benign Het
Bcat2 T C 7: 45,234,980 (GRCm39) V226A possibly damaging Het
Cdh10 A G 15: 19,013,521 (GRCm39) N707S possibly damaging Het
Chd9 T C 8: 91,659,174 (GRCm39) F45L unknown Het
Clec1a T C 6: 129,428,606 (GRCm39) T25A probably benign Het
Cps1 T C 1: 67,259,671 (GRCm39) F1338L probably damaging Het
Cthrc1 A G 15: 38,947,868 (GRCm39) T196A probably benign Het
Ctsm A T 13: 61,686,299 (GRCm39) V228D probably damaging Het
Dennd3 A T 15: 73,429,477 (GRCm39) D920V probably damaging Het
Dnah17 A G 11: 117,987,452 (GRCm39) I1286T probably benign Het
Dnah3 T A 7: 119,551,473 (GRCm39) T2949S probably benign Het
Dram1 C T 10: 88,192,703 (GRCm39) V28M probably benign Het
Eml5 A G 12: 98,827,554 (GRCm39) Y559H probably damaging Het
Ermard C T 17: 15,273,554 (GRCm39) R380C possibly damaging Het
Fam181a A G 12: 103,282,107 (GRCm39) D4G probably damaging Het
Gabrd C A 4: 155,472,803 (GRCm39) V127L probably damaging Het
Galnt12 T A 4: 47,104,163 (GRCm39) Y140* probably null Het
Gpr161 A T 1: 165,146,389 (GRCm39) K442* probably null Het
Haus6 A T 4: 86,513,665 (GRCm39) N332K probably benign Het
Igsf3 T A 3: 101,358,322 (GRCm39) Y738N probably damaging Het
Itsn1 T A 16: 91,625,264 (GRCm39) *622R probably null Het
Kcna2 T A 3: 107,012,887 (GRCm39) Y489* probably null Het
Limk1 A G 5: 134,701,864 (GRCm39) probably null Het
Manba A T 3: 135,255,079 (GRCm39) D479V probably benign Het
Myh6 A T 14: 55,189,779 (GRCm39) I1089N possibly damaging Het
Npas4 T A 19: 5,038,492 (GRCm39) D142V probably damaging Het
Nr4a1 T C 15: 101,168,053 (GRCm39) F30L probably benign Het
Numbl C T 7: 26,976,327 (GRCm39) R336C Het
Or10x4 G A 1: 174,218,742 (GRCm39) A36T probably benign Het
Or5p4 T C 7: 107,680,040 (GRCm39) I13T Het
Parp9 T C 16: 35,777,234 (GRCm39) S393P probably damaging Het
Pcdha11 A G 18: 37,145,484 (GRCm39) E525G probably damaging Het
Pdia2 T C 17: 26,416,174 (GRCm39) T298A probably benign Het
Per3 G A 4: 151,094,945 (GRCm39) T946I probably benign Het
Pla2r1 A T 2: 60,258,902 (GRCm39) V1162D probably damaging Het
Plxnd1 T A 6: 115,932,730 (GRCm39) N1917Y probably damaging Het
Ppil3 T C 1: 58,470,397 (GRCm39) D151G probably benign Het
Psd3 A T 8: 68,165,833 (GRCm39) M365K unknown Het
Psme2b T G 11: 48,836,566 (GRCm39) H127P probably damaging Het
Ric8a C G 7: 140,437,393 (GRCm39) R4G probably benign Het
Rock2 A T 12: 17,027,763 (GRCm39) D1360V probably damaging Het
Simc1 A G 13: 54,674,192 (GRCm39) T847A probably benign Het
Slc12a1 T A 2: 125,028,144 (GRCm39) V480E probably damaging Het
Slc32a1 T C 2: 158,456,241 (GRCm39) F299L probably benign Het
Slc44a2 A G 9: 21,258,333 (GRCm39) Y500C Het
Ssbp2 A G 13: 91,823,157 (GRCm39) D192G probably benign Het
Stat5b T C 11: 100,681,674 (GRCm39) K527E probably benign Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Usp50 A G 2: 126,619,817 (GRCm39) probably null Het
Vegfc A T 8: 54,610,053 (GRCm39) M70L probably benign Het
Vmn1r40 A G 6: 89,691,854 (GRCm39) T224A probably benign Het
Vmn2r116 A G 17: 23,605,919 (GRCm39) D277G probably benign Het
Vti1a T A 19: 55,612,278 (GRCm39) I197N possibly damaging Het
Zfyve9 C A 4: 108,576,435 (GRCm39) L215F probably damaging Het
Znrf3 A T 11: 5,288,710 (GRCm39) Y19* probably null 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
R6394:Pole3 UTSW 4 62,442,263 (GRCm39) utr 3 prime probably benign
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
Predicted Primers PCR Primer
(F):5'- GGGAAAGCCTTCACACAGAC -3'
(R):5'- CAGTATCAGTGCCATTAAGTCCCG -3'

Sequencing Primer
(F):5'- CAGACATGTCTCAGGATCTCAGG -3'
(R):5'- GTCCCGTTCAATAATACAGGACTGG -3'
Posted On 2022-06-15