Incidental Mutation 'R6435:Pold1'
ID 518745
Institutional Source Beutler Lab
Gene Symbol Pold1
Ensembl Gene ENSMUSG00000038644
Gene Name polymerase (DNA directed), delta 1, catalytic subunit
Synonyms 125kDa
MMRRC Submission 044573-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R6435 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44182168-44198239 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44188202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 559 (R559C)
Ref Sequence ENSEMBL: ENSMUSP00000117157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049343] [ENSMUST00000145956] [ENSMUST00000151793]
AlphaFold P52431
Predicted Effect probably damaging
Transcript: ENSMUST00000049343
AA Change: R559C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644
AA Change: R559C

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 noncoding transcript
Transcript: ENSMUST00000132268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136225
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141742
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 probably damaging
Transcript: ENSMUST00000151793
AA Change: R559C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644
AA Change: R559C

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147503
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184044
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 100% (32/32)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A T 2: 31,691,561 (GRCm39) T1027S possibly damaging Het
Ablim1 T C 19: 57,049,787 (GRCm39) I159V possibly damaging Het
Adcy1 A G 11: 7,111,367 (GRCm39) N886S possibly damaging Het
Baz1b G A 5: 135,266,799 (GRCm39) D1203N probably damaging Het
Chmp2a A T 7: 12,766,701 (GRCm39) Y72* probably null Het
Col6a1 A T 10: 76,546,957 (GRCm39) I755N unknown Het
Defa24 T A 8: 22,224,690 (GRCm39) F46L possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Gcn1 A T 5: 115,749,081 (GRCm39) probably null Het
Gfpt2 A G 11: 49,726,478 (GRCm39) S628G probably benign Het
Hsdl2 C A 4: 59,610,668 (GRCm39) Q222K unknown Het
Ighv1-9 T A 12: 114,547,206 (GRCm39) I111F probably benign Het
Itch G A 2: 155,051,049 (GRCm39) D579N probably benign Het
Jdp2 A T 12: 85,655,132 (GRCm39) K65M probably damaging Het
Kif15 A T 9: 122,815,556 (GRCm39) E222V probably damaging Het
Map1b A G 13: 99,652,871 (GRCm39) V42A probably damaging Het
Mecom T A 3: 30,034,398 (GRCm39) E426V probably damaging Het
Meiosin T C 7: 18,834,844 (GRCm39) probably benign Het
Mfsd6 G T 1: 52,748,603 (GRCm39) Y87* probably null Het
Mybpc2 A G 7: 44,155,481 (GRCm39) V924A possibly damaging Het
Naip6 A T 13: 100,431,249 (GRCm39) M1196K probably benign Het
Nscme3l T C 19: 5,553,446 (GRCm39) I112V probably benign Het
Or52n5 A G 7: 104,588,041 (GRCm39) M103V probably damaging Het
Pcdh9 G A 14: 94,125,280 (GRCm39) P297S probably benign Het
Rgs21 A G 1: 144,395,565 (GRCm39) F108L probably damaging Het
Runx1 A T 16: 92,441,183 (GRCm39) S209T possibly damaging Het
Sdccag8 G T 1: 176,642,428 (GRCm39) probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Srgap1 T C 10: 121,636,732 (GRCm39) D741G possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Homo
Tsc1 G A 2: 28,566,464 (GRCm39) V627M probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp612 A G 8: 110,815,952 (GRCm39) I347M probably 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
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
R7049:Pold1 UTSW 7 44,190,795 (GRCm39) missense possibly damaging 0.95
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'- TTGAGGGGCTCAATGACTG -3'
(R):5'- AGGACGTTCAGCACAGCATC -3'

Sequencing Primer
(F):5'- TCAATGACTGTGGCTCCCGTG -3'
(R):5'- TGAGCCCCTGACTGACTGAG -3'
Posted On 2018-05-24