Incidental Mutation 'IGL01433:Pold1'
ID 84258
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pold1
Ensembl Gene ENSMUSG00000038644
Gene Name polymerase (DNA directed), delta 1, catalytic subunit
Synonyms 125kDa
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # IGL01433
Quality Score
Status
Chromosome 7
Chromosomal Location 44182168-44198239 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 44192656 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049343] [ENSMUST00000145956] [ENSMUST00000151793]
AlphaFold P52431
Predicted Effect probably benign
Transcript: ENSMUST00000049343
SMART Domains Protein: ENSMUSP00000039776
Gene: ENSMUSG00000038644

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: ENSMUST00000138746
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 benign
Transcript: ENSMUST00000151793
SMART Domains Protein: ENSMUSP00000117157
Gene: ENSMUSG00000038644

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: ENSMUST00000208368
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt3 C T 3: 30,652,188 (GRCm39) G302D probably damaging Het
Adam19 T C 11: 46,003,610 (GRCm39) L146P probably damaging Het
Adcy8 T A 15: 64,609,263 (GRCm39) Y852F possibly damaging Het
Arfgef1 T C 1: 10,223,657 (GRCm39) T1520A probably damaging Het
Atp8b1 C T 18: 64,706,590 (GRCm39) V199I probably benign Het
Avl9 A G 6: 56,730,382 (GRCm39) D575G probably damaging Het
Bcam C A 7: 19,494,107 (GRCm39) V395L possibly damaging Het
Bltp1 T G 3: 36,941,919 (GRCm39) S241R probably damaging Het
Ccdc198 G T 14: 49,473,341 (GRCm39) T128K probably benign Het
Cgn T A 3: 94,686,769 (GRCm39) N178Y probably damaging Het
D5Ertd579e A T 5: 36,776,098 (GRCm39) D168E probably damaging Het
Dnah17 G T 11: 117,940,760 (GRCm39) T3288K probably damaging Het
Ednrb A T 14: 104,080,626 (GRCm39) I96N probably damaging Het
Gdpd3 A G 7: 126,370,356 (GRCm39) I264V possibly damaging Het
Itih4 T C 14: 30,617,405 (GRCm39) V575A probably benign Het
Jhy G A 9: 40,828,512 (GRCm39) R465C possibly damaging Het
Kcna4 C T 2: 107,127,078 (GRCm39) S604F probably damaging Het
Kcnj6 A G 16: 94,633,814 (GRCm39) V99A probably benign Het
Kdm2a A G 19: 4,392,888 (GRCm39) I489T possibly damaging Het
Kif13a A G 13: 46,926,384 (GRCm39) S241P probably damaging Het
Lax1 T C 1: 133,608,137 (GRCm39) I201M probably benign Het
Lzic T A 4: 149,572,604 (GRCm39) S65T probably benign Het
Marchf9 T C 10: 126,892,562 (GRCm39) T309A probably benign Het
Ndufc1 T C 3: 51,314,797 (GRCm39) K70E possibly damaging Het
Optn T C 2: 5,031,955 (GRCm39) K504R probably benign Het
Or51q1 A T 7: 103,628,539 (GRCm39) I53F probably damaging Het
Pagr1a A G 7: 126,614,647 (GRCm39) probably benign Het
Ptprq A G 10: 107,412,741 (GRCm39) I1786T probably damaging Het
Rgs20 T C 1: 5,140,300 (GRCm39) D34G possibly damaging Het
Rnps1 T C 17: 24,643,519 (GRCm39) probably null Het
Rpgrip1 T C 14: 52,363,834 (GRCm39) V261A probably damaging Het
Sfxn1 A G 13: 54,247,935 (GRCm39) N220S probably benign Het
Slc35f1 T A 10: 52,949,542 (GRCm39) probably benign Het
Slc5a4b T C 10: 75,906,329 (GRCm39) probably benign Het
Snx19 A G 9: 30,340,067 (GRCm39) I402V possibly damaging Het
Spaca6 T C 17: 18,051,429 (GRCm39) V35A probably benign Het
Taar2 A G 10: 23,816,657 (GRCm39) T66A probably benign Het
Tanc2 C T 11: 105,701,348 (GRCm39) H288Y possibly damaging Het
Tbc1d31 A G 15: 57,804,164 (GRCm39) Q393R probably benign Het
Trpm1 A G 7: 63,854,276 (GRCm39) Y133C probably damaging Het
Vmn2r105 T C 17: 20,448,817 (GRCm39) D120G probably benign Het
Vmn2r56 C A 7: 12,449,541 (GRCm39) M232I probably benign Het
Vps35l A G 7: 118,373,274 (GRCm39) probably null Het
Zfp251 C T 15: 76,738,755 (GRCm39) V113I probably benign Het
Other mutations in Pold1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-11-11