Incidental Mutation 'R7049:Pold1'
ID 547483
Institutional Source Beutler Lab
Gene Symbol Pold1
Ensembl Gene ENSMUSG00000038644
Gene Name polymerase (DNA directed), delta 1, catalytic subunit
Synonyms 125kDa
MMRRC Submission 045147-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R7049 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44182168-44198239 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44190795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 290 (W290R)
Ref Sequence ENSEMBL: ENSMUSP00000039776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049343] [ENSMUST00000145956] [ENSMUST00000151793]
AlphaFold P52431
Predicted Effect possibly damaging
Transcript: ENSMUST00000049343
AA Change: W290R

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
AA Change: W290R

DomainStartEndE-ValueType
coiled coil region 34 58 N/A INTRINSIC
Blast:POLBc 65 108 1e-7 BLAST
low complexity region 212 225 N/A INTRINSIC
Blast:POLBc 227 279 1e-19 BLAST
POLBc 306 763 2.53e-161 SMART
Blast:POLBc 790 837 1e-18 BLAST
Pfam:zf-C4pol 1010 1080 5.1e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145956
SMART Domains Protein: ENSMUSP00000117844
Gene: ENSMUSG00000038644

DomainStartEndE-ValueType
coiled coil region 34 58 N/A INTRINSIC
Blast:POLBc 65 108 2e-8 BLAST
PDB:3IAY|A 76 151 7e-8 PDB
SCOP:d1tgoa1 117 153 3e-10 SMART
Blast:POLBc 130 153 7e-7 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000151793
AA Change: W290R

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
AA Change: W290R

DomainStartEndE-ValueType
coiled coil region 34 58 N/A INTRINSIC
Blast:POLBc 66 108 1e-7 BLAST
low complexity region 212 225 N/A INTRINSIC
Blast:POLBc 227 279 1e-19 BLAST
POLBc 306 763 7.8e-164 SMART
Blast:POLBc 790 837 1e-18 BLAST
low complexity region 914 938 N/A INTRINSIC
low complexity region 959 980 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene have an elevated mutation rate as well as an increased incidence of tumors. Median age for these mice is around 10 months. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,941,497 (GRCm39) V447A probably benign Het
Adam6b A G 12: 113,454,122 (GRCm39) D313G probably damaging Het
Adcy10 G T 1: 165,367,443 (GRCm39) C571F probably damaging Het
Anxa1 A G 19: 20,352,635 (GRCm39) V313A probably benign Het
Bpifb6 A T 2: 153,750,733 (GRCm39) probably null Het
Cacna1c C A 6: 118,578,124 (GRCm39) C1713F probably benign Het
Cep135 A G 5: 76,754,585 (GRCm39) N354S probably benign Het
Cers2 A G 3: 95,228,965 (GRCm39) D200G probably damaging Het
Cpne1 A G 2: 155,920,727 (GRCm39) L133P probably damaging Het
Ddhd1 A G 14: 45,840,138 (GRCm39) Y16H probably damaging Het
Depp1 T C 6: 116,629,254 (GRCm39) L199P probably damaging Het
Fastkd2 T C 1: 63,771,009 (GRCm39) F122L probably benign Het
Fastkd5 A T 2: 130,457,431 (GRCm39) D386E probably damaging Het
Gm5134 T A 10: 75,828,292 (GRCm39) C291S probably damaging Het
Gria2 T C 3: 80,596,634 (GRCm39) S811G probably damaging Het
Hcn1 C T 13: 118,111,998 (GRCm39) P654L unknown Het
Hrnr C A 3: 93,230,461 (GRCm39) S233* probably null Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Itgal A T 7: 126,895,573 (GRCm39) probably benign Het
L3mbtl4 G T 17: 68,768,561 (GRCm39) R223L probably benign Het
Mical1 A G 10: 41,358,246 (GRCm39) R420G possibly damaging Het
Mllt6 T A 11: 97,564,637 (GRCm39) L481Q probably damaging Het
Mtdh T A 15: 34,131,311 (GRCm39) N174K probably damaging Het
Nhsl1 A G 10: 18,407,386 (GRCm39) M1507V probably damaging Het
Npm3 A T 19: 45,737,994 (GRCm39) M1K probably null Het
Or1e21 C T 11: 73,344,430 (GRCm39) G203R probably damaging Het
Prss52 C T 14: 64,350,021 (GRCm39) T216I probably damaging Het
Psme4 T C 11: 30,763,904 (GRCm39) probably null Het
Pwwp2a T A 11: 43,597,018 (GRCm39) F453I probably damaging Het
Rttn A G 18: 89,082,340 (GRCm39) N1422S probably damaging Het
Scaf4 A C 16: 90,057,075 (GRCm39) I92R unknown Het
Slc12a1 A G 2: 125,013,177 (GRCm39) K345E probably benign Het
Slc22a28 A T 19: 8,049,270 (GRCm39) N326K probably benign Het
Smgc A G 15: 91,744,576 (GRCm39) E311G possibly damaging Het
Snx7 C T 3: 117,633,680 (GRCm39) R90H possibly damaging Het
Tex101 A G 7: 24,367,683 (GRCm39) I223T probably benign Het
Tnik A T 3: 28,715,853 (GRCm39) K1093* probably null Het
Tnxb T G 17: 34,936,242 (GRCm39) probably null Het
Trio T C 15: 27,749,885 (GRCm39) N2272S possibly damaging Het
Tubal3 T C 13: 3,982,756 (GRCm39) Y179H probably damaging Het
Vmn2r4 C T 3: 64,296,550 (GRCm39) G745D probably benign Het
Vps9d1 A T 8: 123,973,882 (GRCm39) Y300* probably null Het
Zfp646 T A 7: 127,479,199 (GRCm39) C459S possibly damaging Het
Other mutations in Pold1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01433:Pold1 APN 7 44,192,656 (GRCm39) splice site probably benign
IGL01626:Pold1 APN 7 44,182,796 (GRCm39) critical splice donor site probably null
IGL01635:Pold1 APN 7 44,185,401 (GRCm39) missense probably damaging 1.00
IGL02165:Pold1 APN 7 44,187,484 (GRCm39) missense probably damaging 1.00
IGL02197:Pold1 APN 7 44,191,663 (GRCm39) missense probably benign 0.07
IGL02579:Pold1 APN 7 44,192,703 (GRCm39) missense probably damaging 1.00
IGL03104:Pold1 APN 7 44,190,004 (GRCm39) missense probably damaging 1.00
IGL03118:Pold1 APN 7 44,188,824 (GRCm39) missense probably benign 0.17
PIT4243001:Pold1 UTSW 7 44,191,582 (GRCm39) missense possibly damaging 0.77
PIT4431001:Pold1 UTSW 7 44,188,318 (GRCm39) missense probably damaging 1.00
R0184:Pold1 UTSW 7 44,191,139 (GRCm39) missense probably benign 0.32
R0266:Pold1 UTSW 7 44,190,449 (GRCm39) splice site probably benign
R0537:Pold1 UTSW 7 44,184,516 (GRCm39) missense probably damaging 1.00
R1251:Pold1 UTSW 7 44,184,475 (GRCm39) missense probably benign 0.02
R1348:Pold1 UTSW 7 44,184,106 (GRCm39) missense probably benign 0.00
R1376:Pold1 UTSW 7 44,189,986 (GRCm39) missense probably damaging 1.00
R1376:Pold1 UTSW 7 44,189,986 (GRCm39) missense probably damaging 1.00
R1445:Pold1 UTSW 7 44,192,181 (GRCm39) splice site probably benign
R2156:Pold1 UTSW 7 44,188,542 (GRCm39) missense probably damaging 1.00
R2256:Pold1 UTSW 7 44,183,223 (GRCm39) critical splice acceptor site probably null
R2259:Pold1 UTSW 7 44,190,908 (GRCm39) splice site probably benign
R2870:Pold1 UTSW 7 44,192,771 (GRCm39) synonymous silent
R3793:Pold1 UTSW 7 44,190,994 (GRCm39) missense probably damaging 1.00
R4493:Pold1 UTSW 7 44,187,132 (GRCm39) missense probably damaging 1.00
R4583:Pold1 UTSW 7 44,188,337 (GRCm39) missense probably damaging 0.97
R4661:Pold1 UTSW 7 44,182,233 (GRCm39) missense probably damaging 0.99
R4738:Pold1 UTSW 7 44,190,753 (GRCm39) missense probably damaging 0.99
R4769:Pold1 UTSW 7 44,184,495 (GRCm39) missense probably damaging 1.00
R4797:Pold1 UTSW 7 44,191,325 (GRCm39) missense possibly damaging 0.91
R5009:Pold1 UTSW 7 44,183,326 (GRCm39) missense probably benign 0.13
R5150:Pold1 UTSW 7 44,185,256 (GRCm39) missense possibly damaging 0.91
R5534:Pold1 UTSW 7 44,188,043 (GRCm39) missense probably damaging 1.00
R5988:Pold1 UTSW 7 44,190,004 (GRCm39) missense probably damaging 1.00
R6113:Pold1 UTSW 7 44,187,124 (GRCm39) missense probably damaging 1.00
R6127:Pold1 UTSW 7 44,191,545 (GRCm39) missense probably damaging 1.00
R6232:Pold1 UTSW 7 44,190,266 (GRCm39) critical splice donor site probably null
R6435:Pold1 UTSW 7 44,188,202 (GRCm39) missense probably damaging 1.00
R6436:Pold1 UTSW 7 44,188,202 (GRCm39) missense probably damaging 1.00
R6437:Pold1 UTSW 7 44,188,202 (GRCm39) missense probably damaging 1.00
R6930:Pold1 UTSW 7 44,191,630 (GRCm39) missense probably benign
R7158:Pold1 UTSW 7 44,188,290 (GRCm39) missense probably damaging 1.00
R7170:Pold1 UTSW 7 44,191,572 (GRCm39) missense possibly damaging 0.93
R7235:Pold1 UTSW 7 44,191,244 (GRCm39) missense probably benign 0.00
R7372:Pold1 UTSW 7 44,192,847 (GRCm39) missense possibly damaging 0.59
R7511:Pold1 UTSW 7 44,191,614 (GRCm39) missense possibly damaging 0.67
R7797:Pold1 UTSW 7 44,191,213 (GRCm39) missense probably benign 0.00
R9037:Pold1 UTSW 7 44,188,339 (GRCm39) missense probably damaging 1.00
R9479:Pold1 UTSW 7 44,191,079 (GRCm39) missense probably damaging 1.00
Z1176:Pold1 UTSW 7 44,191,656 (GRCm39) missense probably benign
Z1176:Pold1 UTSW 7 44,191,204 (GRCm39) missense probably benign 0.15
Z1177:Pold1 UTSW 7 44,191,382 (GRCm39) missense not run
Predicted Primers PCR Primer
(F):5'- TCTCTCTGTAGGGAGCACTC -3'
(R):5'- CACTCTTCCAGGTTCATGGTGG -3'

Sequencing Primer
(F):5'- GGAGCACTCCTTCCACCC -3'
(R):5'- CTGACATTGTGGGATGCAAC -3'
Posted On 2019-05-13