Incidental Mutation 'R4795:Polk'
ID 368968
Institutional Source Beutler Lab
Gene Symbol Polk
Ensembl Gene ENSMUSG00000021668
Gene Name polymerase (DNA directed), kappa
Synonyms Dinb1
MMRRC Submission 041996-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R4795 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 96617198-96679087 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96625764 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 347 (T347A)
Ref Sequence ENSEMBL: ENSMUSP00000152192 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022172] [ENSMUST00000091387] [ENSMUST00000165358] [ENSMUST00000220977] [ENSMUST00000221645] [ENSMUST00000221899] [ENSMUST00000222389] [ENSMUST00000222075] [ENSMUST00000222143]
AlphaFold Q9QUG2
Predicted Effect probably benign
Transcript: ENSMUST00000022172
AA Change: T427A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022172
Gene: ENSMUSG00000021668
AA Change: T427A

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
AA Change: T368A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000088950
Gene: ENSMUSG00000021668
AA Change: T368A

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: ENSMUST00000165358
Predicted Effect probably benign
Transcript: ENSMUST00000220977
AA Change: T347A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000221645
AA Change: T427A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000221899
AA Change: T347A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222389
AA Change: T347A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000222075
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222268
Predicted Effect probably benign
Transcript: ENSMUST00000222143
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 98% (123/125)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T G 3: 121,969,772 (GRCm39) L2259R probably damaging Het
Acd A G 8: 106,427,647 (GRCm39) S2P possibly damaging Het
Acsf3 A G 8: 123,506,896 (GRCm39) Y63C possibly damaging Het
Adam21 T C 12: 81,607,748 (GRCm39) I5V probably benign Het
Adamts6 C A 13: 104,580,636 (GRCm39) S783* probably null Het
Adamtsl1 T C 4: 86,162,006 (GRCm39) probably null Het
Adck2 T A 6: 39,553,327 (GRCm39) S313T probably benign Het
Adgb A G 10: 10,233,616 (GRCm39) I1285T probably benign Het
Angptl1 T A 1: 156,688,153 (GRCm39) M485K possibly damaging Het
Ank3 G A 10: 69,694,095 (GRCm39) V289I probably benign Het
Atp13a4 A G 16: 29,308,826 (GRCm39) probably null Het
Atp1a1 A G 3: 101,491,091 (GRCm39) L648P probably benign Het
Atp2a3 A G 11: 72,863,855 (GRCm39) I194V probably benign Het
Bglap A C 3: 88,291,712 (GRCm39) I4S unknown Het
Cacna1b T A 2: 24,527,499 (GRCm39) T1621S possibly damaging Het
Ccdc112 T A 18: 46,420,739 (GRCm39) Q337L probably benign Het
Ccdc121rt3 A G 5: 112,503,165 (GRCm39) S180P possibly damaging Het
Cd34 T G 1: 194,633,319 (GRCm39) S194A probably damaging Het
Cdh20 A G 1: 104,868,989 (GRCm39) D160G probably damaging Het
Clock T C 5: 76,413,763 (GRCm39) K44R probably damaging Het
Commd9 A G 2: 101,729,241 (GRCm39) N116D probably benign Het
Dab2 C A 15: 6,459,092 (GRCm39) P335T probably benign Het
Epb41l3 T A 17: 69,555,714 (GRCm39) probably null Het
Epha2 A G 4: 141,049,727 (GRCm39) probably null Het
Fam78b T C 1: 166,906,216 (GRCm39) V125A probably benign Het
Fars2 A T 13: 36,721,400 (GRCm39) E448V probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Glyr1 A C 16: 4,865,622 (GRCm39) V44G probably benign Het
Gm1527 A G 3: 28,974,812 (GRCm39) I542V possibly damaging Het
Gm18856 C A 13: 14,139,793 (GRCm39) probably benign Het
Gm44501 A G 17: 40,889,605 (GRCm39) K40E probably benign Het
Hdhd5 T C 6: 120,500,407 (GRCm39) H97R probably benign Het
Hmcn1 A G 1: 150,629,362 (GRCm39) V965A probably benign Het
Hsf5 A G 11: 87,526,446 (GRCm39) M373V probably benign Het
Igbp1b C T 6: 138,634,803 (GRCm39) E214K probably benign Het
Iigp1 T A 18: 60,522,964 (GRCm39) F27L probably benign Het
Isl1 T C 13: 116,441,966 (GRCm39) N89S probably benign Het
Itga1 C A 13: 115,171,921 (GRCm39) W61C probably damaging Het
Itga5 T C 15: 103,256,187 (GRCm39) R922G probably benign Het
Kbtbd3 G A 9: 4,331,073 (GRCm39) W482* probably null Het
Kcnq1 A G 7: 142,736,494 (GRCm39) T168A probably benign Het
Lrch3 A G 16: 32,826,074 (GRCm39) N631S probably damaging Het
Lrrk1 T A 7: 65,912,413 (GRCm39) I1716F possibly damaging Het
Ly75 T C 2: 60,180,284 (GRCm39) E631G probably benign Het
Map4 T C 9: 109,864,331 (GRCm39) S519P probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Mrtfa C T 15: 80,901,234 (GRCm39) S419N probably damaging Het
Muc5b A G 7: 141,403,304 (GRCm39) E755G unknown Het
Ncaph2 T G 15: 89,255,010 (GRCm39) V478G probably damaging Het
Ncbp1 A G 4: 46,152,967 (GRCm39) R247G possibly damaging Het
Necab1 G T 4: 15,111,208 (GRCm39) D73E possibly damaging Het
Nedd9 T C 13: 41,471,376 (GRCm39) K208E probably benign Het
Nfyb A T 10: 82,588,202 (GRCm39) probably benign Het
Nol4 T C 18: 23,054,944 (GRCm39) Q162R probably damaging Het
Nwd2 G A 5: 63,962,776 (GRCm39) D787N probably benign Het
Olfr908 T A 9: 38,427,799 (GRCm39) M157K probably damaging Het
Or10a5 A T 7: 106,636,121 (GRCm39) Y253F probably benign Het
Or11g7 A C 14: 50,690,874 (GRCm39) M122L probably damaging Het
Or13a22 A G 7: 140,072,920 (GRCm39) D123G probably damaging Het
Or5ac23 C T 16: 59,149,213 (GRCm39) V220I probably benign Het
Or6a2 C T 7: 106,600,542 (GRCm39) G175D probably damaging Het
Or6e1 A G 14: 54,520,004 (GRCm39) M116T probably damaging Het
Orai3 T C 7: 127,373,060 (GRCm39) V187A probably benign Het
Parn T C 16: 13,424,066 (GRCm39) T444A probably benign Het
Pcdh11x A C X: 119,309,937 (GRCm39) N460T probably damaging Het
Pcnt C T 10: 76,205,858 (GRCm39) R2516H probably benign Het
Pde4d T A 13: 110,074,705 (GRCm39) probably benign Het
Pdgfra A G 5: 75,349,972 (GRCm39) N952S probably benign Het
Pgm2 A G 5: 64,261,217 (GRCm39) Y237C probably damaging Het
Plcb2 A G 2: 118,541,605 (GRCm39) V975A probably benign Het
Ppp6r1 C T 7: 4,644,053 (GRCm39) V430M possibly damaging Het
Ptges2 C A 2: 32,286,334 (GRCm39) C16* probably null Het
Relb A T 7: 19,353,764 (GRCm39) I38N probably damaging Het
Runx1t1 T A 4: 13,837,767 (GRCm39) N51K probably damaging Het
Samsn1 A G 16: 75,680,733 (GRCm39) probably benign Het
Scrn1 A G 6: 54,497,754 (GRCm39) V279A possibly damaging Het
Sec31b A G 19: 44,520,185 (GRCm39) S200P probably benign Het
Selp A G 1: 163,972,475 (GRCm39) T705A probably benign Het
Slc2a1 G A 4: 118,989,642 (GRCm39) R61Q probably damaging Het
Slit3 G A 11: 35,542,647 (GRCm39) probably null Het
Smo T A 6: 29,755,573 (GRCm39) V415E probably damaging Het
Spag8 C A 4: 43,652,035 (GRCm39) V350L possibly damaging Het
Tbck T G 3: 132,413,559 (GRCm39) L132R possibly damaging Het
Thnsl1 T A 2: 21,216,856 (GRCm39) C203* probably null Het
Tm9sf2 T A 14: 122,387,252 (GRCm39) probably null Het
Tmem131 A G 1: 36,880,757 (GRCm39) V171A probably damaging Het
Tmem209 T C 6: 30,501,954 (GRCm39) T83A probably benign Het
Tmem63a T C 1: 180,782,416 (GRCm39) Y138H probably damaging Het
Trim80 A G 11: 115,338,769 (GRCm39) Y533C probably damaging Het
Trpv2 A G 11: 62,472,006 (GRCm39) D66G possibly damaging Het
Trrap T A 5: 144,769,298 (GRCm39) I2620N probably benign Het
Ttyh3 A T 5: 140,620,541 (GRCm39) I232N probably damaging Het
Ube2dnl1 G A X: 113,815,482 (GRCm39) C119Y possibly damaging Het
Unc13c T A 9: 73,839,469 (GRCm39) S461C probably damaging Het
Unc80 T G 1: 66,567,100 (GRCm39) I902S probably damaging Het
Usp42 C A 5: 143,709,692 (GRCm39) G170W probably damaging Het
Vldlr T C 19: 27,216,252 (GRCm39) probably null Het
Ywhab A G 2: 163,857,265 (GRCm39) Y180C probably damaging Het
Zan A T 5: 137,379,112 (GRCm39) C5329* probably null Het
Zbtb40 C T 4: 136,725,953 (GRCm39) M535I probably benign Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfp318 A G 17: 46,722,988 (GRCm39) T1664A probably benign Het
Zfp7 T A 15: 76,775,546 (GRCm39) C529* probably null Het
Zfp768 T C 7: 126,942,547 (GRCm39) Q527R possibly damaging Het
Zfp975 T A 7: 42,314,570 (GRCm39) probably null 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
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
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'- AGACGTCAGACTCTCTGTTTCTG -3'
(R):5'- TGCCTATGCAAATGGCTTTTG -3'

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