Incidental Mutation 'R4810:Polk'
ID 371028
Institutional Source Beutler Lab
Gene Symbol Polk
Ensembl Gene ENSMUSG00000021668
Gene Name polymerase (DNA directed), kappa
Synonyms Dinb1
MMRRC Submission 042429-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R4810 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 96617198-96679087 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96620003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 732 (S732R)
Ref Sequence ENSEMBL: ENSMUSP00000152647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022172] [ENSMUST00000091387] [ENSMUST00000220977] [ENSMUST00000221645] [ENSMUST00000221899] [ENSMUST00000222075] [ENSMUST00000222389] [ENSMUST00000222143]
AlphaFold Q9QUG2
Predicted Effect possibly damaging
Transcript: ENSMUST00000022172
AA Change: S812R

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022172
Gene: ENSMUSG00000021668
AA Change: S812R

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 possibly damaging
Transcript: ENSMUST00000091387
AA Change: S753R

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000088950
Gene: ENSMUSG00000021668
AA Change: S753R

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 benign
Transcript: ENSMUST00000221645
Predicted Effect possibly damaging
Transcript: ENSMUST00000221899
AA Change: S732R

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000222075
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222268
Predicted Effect probably benign
Transcript: ENSMUST00000222389
Predicted Effect probably benign
Transcript: ENSMUST00000222143
Meta Mutation Damage Score 0.0743 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 99% (93/94)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,236,216 (GRCm39) V1189A possibly damaging Het
A3galt2 T C 4: 128,649,356 (GRCm39) probably null Het
Abca12 T C 1: 71,342,771 (GRCm39) D903G probably benign Het
Abcc12 T C 8: 87,287,471 (GRCm39) M125V probably damaging Het
Adad1 A G 3: 37,146,183 (GRCm39) N517S probably damaging Het
Ankrd44 A G 1: 54,774,302 (GRCm39) probably benign Het
Armc7 A G 11: 115,379,787 (GRCm39) I162V probably benign Het
Art3 T A 5: 92,562,108 (GRCm39) V343D possibly damaging Het
Bcl9l A G 9: 44,419,650 (GRCm39) T1106A probably damaging Het
Ccdc141 T C 2: 76,876,099 (GRCm39) N644D possibly damaging Het
Ccdc154 T C 17: 25,382,472 (GRCm39) L98S probably damaging Het
Ccne1 A G 7: 37,799,018 (GRCm39) W237R probably damaging Het
Cd33 T C 7: 43,182,134 (GRCm39) I104V probably damaging Het
Ceacam1 A T 7: 25,173,945 (GRCm39) *237K probably null Het
Ces1e T A 8: 93,935,259 (GRCm39) I398F probably benign Het
Cfap44 T C 16: 44,271,898 (GRCm39) I1217T probably damaging Het
Clns1a T C 7: 97,363,224 (GRCm39) S199P probably benign Het
Cntn4 C A 6: 106,632,572 (GRCm39) T532K probably benign Het
Col11a2 C T 17: 34,276,086 (GRCm39) S470L probably damaging Het
Cst5 A T 2: 149,247,463 (GRCm39) R60* probably null Het
Cxcr6 A T 9: 123,639,227 (GRCm39) D83V probably damaging Het
Dis3l2 T C 1: 86,975,296 (GRCm39) V774A probably damaging Het
Dusp15 A G 2: 152,787,374 (GRCm39) L79P probably damaging Het
Elapor1 T A 3: 108,377,327 (GRCm39) probably benign Het
Eml6 A T 11: 29,705,011 (GRCm39) V1511E possibly damaging Het
Epha5 C T 5: 84,253,750 (GRCm39) D548N possibly damaging Het
Fam227b A G 2: 125,829,859 (GRCm39) F450L probably benign Het
Fam91a1 T A 15: 58,306,589 (GRCm39) L452Q probably damaging Het
Fbxo44 T C 4: 148,240,903 (GRCm39) Y199C probably damaging Het
Fgd3 A G 13: 49,443,126 (GRCm39) S149P probably benign Het
Gabra4 T C 5: 71,781,325 (GRCm39) E362G probably damaging Het
Galnt14 T C 17: 73,819,116 (GRCm39) I325V probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gm10088 G T 16: 18,847,081 (GRCm39) noncoding transcript Het
Grik5 T C 7: 24,714,922 (GRCm39) N691D probably damaging Het
Grm1 C G 10: 10,658,438 (GRCm39) D351H probably damaging Het
Grm8 T C 6: 27,761,295 (GRCm39) S310G possibly damaging Het
Gtf2h2 A G 13: 100,617,510 (GRCm39) probably null Het
Hhex G T 19: 37,428,103 (GRCm39) L49F probably damaging Het
Hkdc1 T A 10: 62,247,304 (GRCm39) R159S probably benign Het
Iqcm A G 8: 76,615,281 (GRCm39) Y454C probably damaging Het
Kcnh8 G A 17: 53,212,248 (GRCm39) probably null Het
Larp4b A G 13: 9,208,627 (GRCm39) T427A probably benign Het
Mtmr3 A T 11: 4,448,046 (GRCm39) N297K probably benign Het
Nek8 G A 11: 78,058,629 (GRCm39) T557I probably benign Het
Nlrp9c A C 7: 26,077,602 (GRCm39) probably null Het
Nmrk1 T A 19: 18,617,273 (GRCm39) D48E probably benign Het
Npepps G A 11: 97,131,759 (GRCm39) T365I probably damaging Het
Obscn G A 11: 58,922,417 (GRCm39) T5921M possibly damaging Het
Or8b44 C A 9: 38,410,620 (GRCm39) Y218* probably null Het
Or8c9 A G 9: 38,241,690 (GRCm39) E269G probably benign Het
Otud7b C T 3: 96,043,918 (GRCm39) A23V probably damaging Het
Pcdhga9 G A 18: 37,871,601 (GRCm39) A477T possibly damaging Het
Plekha7 A T 7: 115,744,173 (GRCm39) I663N probably damaging Het
Plscr1l1 A G 9: 92,236,683 (GRCm39) D190G probably damaging Het
Ppfia2 A G 10: 106,751,551 (GRCm39) I1166V probably benign Het
Ppp2r5a C T 1: 191,088,589 (GRCm39) probably benign Het
Prkaa2 T C 4: 104,897,011 (GRCm39) K401E probably damaging Het
Ptpn23 A G 9: 110,218,204 (GRCm39) Y611H possibly damaging Het
Rab31 C T 17: 66,028,998 (GRCm39) probably null Het
Rad51ap2 T A 12: 11,507,406 (GRCm39) C443S probably damaging Het
Ralgapa1 A G 12: 55,841,778 (GRCm39) probably null Het
Rev3l T C 10: 39,699,721 (GRCm39) L1406P probably benign Het
Rnaset2b T A 17: 7,259,167 (GRCm39) D48E probably benign Het
Rnf13 G T 3: 57,703,693 (GRCm39) M105I probably damaging Het
Rnf150 T C 8: 83,716,991 (GRCm39) V166A possibly damaging Het
Rps6kc1 C A 1: 190,541,160 (GRCm39) R381L probably damaging Het
Rspo2 C T 15: 43,033,216 (GRCm39) R2H probably benign Het
Septin8 A G 11: 53,425,416 (GRCm39) D103G probably damaging Het
Sirt4 A G 5: 115,618,508 (GRCm39) W189R probably damaging Het
Slco6d1 T C 1: 98,350,979 (GRCm39) V110A possibly damaging Het
Sncaip C A 18: 53,040,271 (GRCm39) Q822K possibly damaging Het
Spg11 A C 2: 121,890,277 (GRCm39) F2070V probably damaging Het
Sptb A T 12: 76,669,971 (GRCm39) Y452* probably null Het
Srsf4 C T 4: 131,627,413 (GRCm39) probably benign Het
Tead1 C A 7: 112,441,073 (GRCm39) probably null Het
Tmem156 G T 5: 65,248,790 (GRCm39) probably benign Het
Tmem169 A G 1: 72,337,311 (GRCm39) D82G probably benign Het
Tmem260 A G 14: 48,709,930 (GRCm39) E51G probably damaging Het
Trim36 G T 18: 46,305,536 (GRCm39) N470K probably benign Het
Trps1 T A 15: 50,685,692 (GRCm39) T158S probably benign Het
Ube2c A G 2: 164,614,482 (GRCm39) *180W probably null Het
Ube2i T C 17: 25,484,121 (GRCm39) D45G probably benign Het
Uggt2 A C 14: 119,250,933 (GRCm39) L1188R probably damaging Het
Uroc1 T C 6: 90,340,135 (GRCm39) I680T probably damaging Het
Vmn2r2 T A 3: 64,044,883 (GRCm39) M88L probably damaging Het
Zfp248 G A 6: 118,406,807 (GRCm39) R261C possibly damaging Het
Zfp418 G T 7: 7,185,846 (GRCm39) R603L possibly damaging Het
Zmpste24 T A 4: 120,918,251 (GRCm39) Y457F probably 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
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
R6670:Polk UTSW 13 96,633,138 (GRCm39) nonsense probably null
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'- TTCTAGCCAGGGTAAAGGTAAC -3'
(R):5'- TCCAGCCTTGTACAGATGAGG -3'

Sequencing Primer
(F):5'- ACCGTGAGTGTGTGAAGCC -3'
(R):5'- CAGCCTTGTACAGATGAGGTAGTAAC -3'
Posted On 2016-02-04