Incidental Mutation 'R6670:Polk'
ID 527112
Institutional Source Beutler Lab
Gene Symbol Polk
Ensembl Gene ENSMUSG00000021668
Gene Name polymerase (DNA directed), kappa
Synonyms Dinb1
MMRRC Submission 044790-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R6670 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 96617198-96679087 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 96633138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 302 (Q302*)
Ref Sequence ENSEMBL: ENSMUSP00000152178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022172] [ENSMUST00000091387] [ENSMUST00000220977] [ENSMUST00000221645] [ENSMUST00000221899] [ENSMUST00000222075] [ENSMUST00000222143] [ENSMUST00000222389]
AlphaFold Q9QUG2
Predicted Effect probably null
Transcript: ENSMUST00000022172
AA Change: Q302*
SMART Domains Protein: ENSMUSP00000022172
Gene: ENSMUSG00000021668
AA Change: Q302*

DomainStartEndE-ValueType
Pfam:IMS 105 324 1.7e-47 PFAM
Pfam:IMS_C 406 525 5.5e-22 PFAM
PDB:2LSJ|B 559 582 9e-8 PDB
ZnF_Rad18 619 645 2.89e-9 SMART
ZnF_Rad18 761 787 2.31e-8 SMART
low complexity region 828 839 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091387
SMART Domains Protein: ENSMUSP00000088950
Gene: ENSMUSG00000021668

DomainStartEndE-ValueType
Pfam:IMS 105 265 1.1e-37 PFAM
Pfam:IMS_C 346 469 8.8e-19 PFAM
PDB:2LSJ|B 500 523 9e-8 PDB
ZnF_Rad18 560 586 2.89e-9 SMART
ZnF_Rad18 702 728 2.31e-8 SMART
low complexity region 769 780 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000220977
Predicted Effect probably null
Transcript: ENSMUST00000221645
AA Change: Q302*
Predicted Effect probably benign
Transcript: ENSMUST00000221899
Predicted Effect probably benign
Transcript: ENSMUST00000222075
Predicted Effect probably benign
Transcript: ENSMUST00000222143
Predicted Effect probably benign
Transcript: ENSMUST00000222389
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.6%
Validation Efficiency 100% (38/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNA polymerase type-Y family of proteins. The encoded protein is a specialized DNA polymerase that catalyzes translesion DNA synthesis, which allows DNA replication in the presence of DNA lesions. Human cell lines lacking a functional copy of this gene exhibit impaired genome integrity and enhanced susceptibility to oxidative damage. Mutations in this gene that impair enzyme activity may be associated with prostate cancer in human patients. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous mutation of this gene that results in a truncated transcript results in a higher rate of spontaneous germline expanded simple tandem repeat mutations. Homozyogus null mice exhibit normal immunoglobulin gene somatic hypermutation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,827,850 (GRCm39) 1544 probably benign Het
Acsm3 T A 7: 119,379,978 (GRCm39) probably null Het
AW551984 T C 9: 39,504,292 (GRCm39) D558G probably damaging Het
Bcl9l GTGAACATGAACATGAACATGAAC GTGAACATGAACATGAACATGAACATGAAC 9: 44,418,369 (GRCm39) probably benign Het
Brd8dc A G 18: 34,719,319 (GRCm39) V167A possibly damaging Het
Ccdc12 T G 9: 110,537,595 (GRCm39) probably null Het
Ctsl T C 13: 64,511,916 (GRCm39) probably null Het
Cul1 T A 6: 47,494,068 (GRCm39) D460E probably damaging Het
Dnttip2 T A 3: 122,069,870 (GRCm39) S362T probably damaging Het
Fbxw16 T A 9: 109,267,280 (GRCm39) D317V probably damaging Het
Fbxw9 T A 8: 85,788,839 (GRCm39) N196K possibly damaging Het
Grap A G 11: 61,551,064 (GRCm39) D32G probably damaging Het
Hhatl T C 9: 121,618,137 (GRCm39) D206G probably damaging Het
Hrnr A T 3: 93,239,192 (GRCm39) Q3143H unknown Het
Ighv1-62-1 T C 12: 115,350,529 (GRCm39) Y46C probably damaging Het
Krtap16-3 A T 16: 88,759,540 (GRCm39) Y58N unknown Het
Mef2c A G 13: 83,810,716 (GRCm39) K384R probably damaging Het
Nalcn A G 14: 123,702,084 (GRCm39) Y476H possibly damaging Het
Oxgr1 A T 14: 120,259,669 (GRCm39) N179K probably damaging Het
Rab3gap1 T A 1: 127,858,512 (GRCm39) S540R probably benign Het
Samd5 A T 10: 9,504,808 (GRCm39) probably null Het
Sema6d GTGATAC G 2: 124,496,762 (GRCm39) probably benign Het
Slc1a6 C A 10: 78,623,646 (GRCm39) A15D probably benign Het
Slc8a1 A G 17: 81,956,883 (GRCm39) C52R probably damaging Het
Sod2 T A 17: 13,227,252 (GRCm39) Y69N possibly damaging Het
Tank T C 2: 61,474,768 (GRCm39) probably null Het
Tbc1d23 A T 16: 57,034,580 (GRCm39) I73N probably benign Het
Tnf A C 17: 35,420,800 (GRCm39) M6R possibly damaging Het
Trmt2a C T 16: 18,068,341 (GRCm39) A16V possibly damaging Het
Ttn A G 2: 76,556,055 (GRCm39) Y21990H probably damaging Het
Uaca C T 9: 60,779,306 (GRCm39) S1231L probably benign Het
Ubr1 A G 2: 120,754,611 (GRCm39) probably null Het
Unc13b A G 4: 43,255,562 (GRCm39) D3849G probably damaging Het
Vmn2r75 T A 7: 85,797,644 (GRCm39) D723V probably damaging Het
Wnt2 C A 6: 18,028,091 (GRCm39) V48L possibly damaging Het
Other mutations in Polk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Polk APN 13 96,633,268 (GRCm39) missense probably benign 0.25
IGL01803:Polk APN 13 96,641,030 (GRCm39) missense probably damaging 1.00
IGL01949:Polk APN 13 96,620,046 (GRCm39) missense probably benign 0.10
IGL01986:Polk APN 13 96,620,331 (GRCm39) missense probably benign 0.09
IGL02073:Polk APN 13 96,641,059 (GRCm39) missense probably damaging 1.00
IGL03165:Polk APN 13 96,653,196 (GRCm39) missense probably benign 0.23
IGL03184:Polk APN 13 96,620,491 (GRCm39) missense probably benign 0.04
IGL03353:Polk APN 13 96,625,719 (GRCm39) missense probably damaging 1.00
R0019:Polk UTSW 13 96,641,124 (GRCm39) missense probably damaging 1.00
R0029:Polk UTSW 13 96,653,178 (GRCm39) missense probably damaging 1.00
R0200:Polk UTSW 13 96,633,330 (GRCm39) missense probably benign 0.11
R0357:Polk UTSW 13 96,641,105 (GRCm39) missense probably damaging 0.99
R0485:Polk UTSW 13 96,620,272 (GRCm39) missense probably benign 0.05
R0555:Polk UTSW 13 96,620,687 (GRCm39) missense probably damaging 0.97
R0687:Polk UTSW 13 96,620,525 (GRCm39) missense probably damaging 1.00
R0980:Polk UTSW 13 96,620,272 (GRCm39) missense probably benign 0.05
R1065:Polk UTSW 13 96,644,760 (GRCm39) missense probably damaging 1.00
R1396:Polk UTSW 13 96,620,716 (GRCm39) missense probably benign 0.02
R1710:Polk UTSW 13 96,625,712 (GRCm39) missense probably damaging 1.00
R1770:Polk UTSW 13 96,631,950 (GRCm39) missense probably damaging 1.00
R1789:Polk UTSW 13 96,633,140 (GRCm39) missense probably damaging 1.00
R1977:Polk UTSW 13 96,625,736 (GRCm39) missense probably damaging 1.00
R2301:Polk UTSW 13 96,620,652 (GRCm39) missense probably benign 0.09
R3797:Polk UTSW 13 96,623,490 (GRCm39) splice site probably benign
R3934:Polk UTSW 13 96,638,143 (GRCm39) missense possibly damaging 0.56
R4082:Polk UTSW 13 96,620,181 (GRCm39) missense probably benign 0.17
R4307:Polk UTSW 13 96,633,174 (GRCm39) missense possibly damaging 0.79
R4472:Polk UTSW 13 96,630,413 (GRCm39) missense probably damaging 1.00
R4779:Polk UTSW 13 96,632,999 (GRCm39) critical splice donor site probably null
R4795:Polk UTSW 13 96,625,764 (GRCm39) missense probably benign 0.01
R4796:Polk UTSW 13 96,625,764 (GRCm39) missense probably benign 0.01
R4810:Polk UTSW 13 96,620,003 (GRCm39) missense possibly damaging 0.90
R5002:Polk UTSW 13 96,625,752 (GRCm39) missense probably damaging 1.00
R5271:Polk UTSW 13 96,620,047 (GRCm39) missense probably benign 0.09
R5415:Polk UTSW 13 96,620,463 (GRCm39) missense probably benign
R5459:Polk UTSW 13 96,631,984 (GRCm39) missense probably damaging 1.00
R5535:Polk UTSW 13 96,632,005 (GRCm39) missense probably damaging 1.00
R5619:Polk UTSW 13 96,620,064 (GRCm39) missense probably damaging 1.00
R5757:Polk UTSW 13 96,620,760 (GRCm39) missense probably benign 0.03
R5801:Polk UTSW 13 96,620,094 (GRCm39) missense probably damaging 1.00
R5923:Polk UTSW 13 96,631,923 (GRCm39) missense probably damaging 1.00
R6365:Polk UTSW 13 96,620,517 (GRCm39) missense probably damaging 1.00
R6831:Polk UTSW 13 96,631,999 (GRCm39) missense possibly damaging 0.87
R6932:Polk UTSW 13 96,653,189 (GRCm39) missense probably damaging 1.00
R7216:Polk UTSW 13 96,644,728 (GRCm39) missense probably benign 0.32
R7654:Polk UTSW 13 96,633,321 (GRCm39) missense probably benign 0.02
R8122:Polk UTSW 13 96,620,291 (GRCm39) missense probably benign 0.01
R8222:Polk UTSW 13 96,632,023 (GRCm39) missense possibly damaging 0.95
R9024:Polk UTSW 13 96,623,340 (GRCm39) missense probably benign 0.00
R9500:Polk UTSW 13 96,630,349 (GRCm39) missense probably damaging 0.99
R9789:Polk UTSW 13 96,630,403 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGACCTGTGATAGCTTTTGTGC -3'
(R):5'- TGTTTGTGATCCAGACACACC -3'

Sequencing Primer
(F):5'- GCTTGATTACAGCTTACCTGGAG -3'
(R):5'- ACTGAGTATGAGCGGTCCATCTC -3'
Posted On 2018-07-23