Incidental Mutation 'IGL01986:Polk'
ID181898
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polk
Ensembl Gene ENSMUSG00000021668
Gene Namepolymerase (DNA directed), kappa
SynonymsDinb1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.237) question?
Stock #IGL01986
Quality Score
Status
Chromosome13
Chromosomal Location96480690-96542579 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 96483823 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 623 (D623G)
Ref Sequence ENSEMBL: ENSMUSP00000152647 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022172] [ENSMUST00000091387] [ENSMUST00000220977] [ENSMUST00000221645] [ENSMUST00000221899] [ENSMUST00000222075] [ENSMUST00000222143] [ENSMUST00000222389]
Predicted Effect probably benign
Transcript: ENSMUST00000022172
AA Change: D703G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000022172
Gene: ENSMUSG00000021668
AA Change: D703G

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: D644G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000088950
Gene: ENSMUSG00000021668
AA Change: D644G

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 probably benign
Transcript: ENSMUST00000221899
AA Change: D623G

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000222075
Predicted Effect probably benign
Transcript: ENSMUST00000222143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222268
Predicted Effect probably benign
Transcript: ENSMUST00000222389
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 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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A T 2: 152,441,036 I245F possibly damaging Het
Abca3 G A 17: 24,408,114 G1263D probably damaging Het
Arap2 A T 5: 62,621,922 S1442T probably damaging Het
Arl15 C A 13: 113,922,366 S56R possibly damaging Het
C530008M17Rik T A 5: 76,858,610 S939R unknown Het
Ccdc38 A T 10: 93,579,843 N415Y probably damaging Het
Ccny G A 18: 9,377,817 R81C probably damaging Het
Csmd3 T C 15: 47,659,195 T2693A possibly damaging Het
Fancm C T 12: 65,126,655 Q1914* probably null Het
Fuk T C 8: 110,883,257 T1042A probably benign Het
Gm18856 G A 13: 13,964,828 probably benign Het
Gramd1a A T 7: 31,134,009 L610Q possibly damaging Het
Hsd17b4 C A 18: 50,160,126 probably benign Het
Hspa12a A G 19: 58,799,402 S663P probably benign Het
Insr C T 8: 3,158,817 V1215I probably damaging Het
Kdr A G 5: 75,952,859 V783A probably benign Het
Klhl9 T C 4: 88,721,779 D75G probably damaging Het
Lmntd1 A G 6: 145,419,807 S53P probably damaging Het
Lrrc41 T A 4: 116,089,322 F411L probably benign Het
Lyst G A 13: 13,775,627 probably null Het
Mmp17 A G 5: 129,596,628 H257R probably damaging Het
Nkiras1 G A 14: 18,280,071 R154Q probably damaging Het
Olfr1123 A G 2: 87,418,536 I163V probably benign Het
Olfr1182 C T 2: 88,446,495 V148I probably benign Het
Olfr124 A G 17: 37,806,066 K307R probably damaging Het
Olfr285 T C 15: 98,312,779 Y257C probably damaging Het
Pcsk6 G A 7: 65,927,877 R60H probably damaging Het
Rlf A T 4: 121,148,106 C1226S probably damaging Het
Rpa2 C T 4: 132,771,880 P87S probably benign Het
Rpa2 C T 4: 132,771,881 P87L probably benign Het
Sema5a T C 15: 32,682,360 probably benign Het
Sis A T 3: 72,945,212 M529K probably damaging Het
Sspo T C 6: 48,483,303 M3375T probably benign Het
Syne3 A T 12: 104,968,000 L83Q probably damaging Het
Tec A T 5: 72,782,005 Y222* probably null Het
Tfap2d C T 1: 19,119,159 probably benign Het
Trak1 G A 9: 121,472,967 A930T probably benign Het
Ugt2b34 G T 5: 86,901,252 H305N probably benign Het
Vmn2r95 A G 17: 18,440,211 N295S probably benign Het
Other mutations in Polk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Polk APN 13 96496760 missense probably benign 0.25
IGL01803:Polk APN 13 96504522 missense probably damaging 1.00
IGL01949:Polk APN 13 96483538 missense probably benign 0.10
IGL02073:Polk APN 13 96504551 missense probably damaging 1.00
IGL03165:Polk APN 13 96516688 missense probably benign 0.23
IGL03184:Polk APN 13 96483983 missense probably benign 0.04
IGL03353:Polk APN 13 96489211 missense probably damaging 1.00
R0019:Polk UTSW 13 96504616 missense probably damaging 1.00
R0029:Polk UTSW 13 96516670 missense probably damaging 1.00
R0200:Polk UTSW 13 96496822 missense probably benign 0.11
R0357:Polk UTSW 13 96504597 missense probably damaging 0.99
R0485:Polk UTSW 13 96483764 missense probably benign 0.05
R0555:Polk UTSW 13 96484179 missense probably damaging 0.97
R0687:Polk UTSW 13 96484017 missense probably damaging 1.00
R0980:Polk UTSW 13 96483764 missense probably benign 0.05
R1065:Polk UTSW 13 96508252 missense probably damaging 1.00
R1396:Polk UTSW 13 96484208 missense probably benign 0.02
R1710:Polk UTSW 13 96489204 missense probably damaging 1.00
R1770:Polk UTSW 13 96495442 missense probably damaging 1.00
R1789:Polk UTSW 13 96496632 missense probably damaging 1.00
R1977:Polk UTSW 13 96489228 missense probably damaging 1.00
R2301:Polk UTSW 13 96484144 missense probably benign 0.09
R3797:Polk UTSW 13 96486982 splice site probably benign
R3934:Polk UTSW 13 96501635 missense possibly damaging 0.56
R4082:Polk UTSW 13 96483673 missense probably benign 0.17
R4307:Polk UTSW 13 96496666 missense possibly damaging 0.79
R4472:Polk UTSW 13 96493905 missense probably damaging 1.00
R4779:Polk UTSW 13 96496491 critical splice donor site probably null
R4795:Polk UTSW 13 96489256 missense probably benign 0.01
R4796:Polk UTSW 13 96489256 missense probably benign 0.01
R4810:Polk UTSW 13 96483495 missense possibly damaging 0.90
R5002:Polk UTSW 13 96489244 missense probably damaging 1.00
R5271:Polk UTSW 13 96483539 missense probably benign 0.09
R5415:Polk UTSW 13 96483955 missense probably benign
R5459:Polk UTSW 13 96495476 missense probably damaging 1.00
R5535:Polk UTSW 13 96495497 missense probably damaging 1.00
R5619:Polk UTSW 13 96483556 missense probably damaging 1.00
R5757:Polk UTSW 13 96484252 missense probably benign 0.03
R5801:Polk UTSW 13 96483586 missense probably damaging 1.00
R5923:Polk UTSW 13 96495415 missense probably damaging 1.00
R6365:Polk UTSW 13 96484009 missense probably damaging 1.00
R6670:Polk UTSW 13 96496630 nonsense probably null
R6831:Polk UTSW 13 96495491 missense possibly damaging 0.87
R6932:Polk UTSW 13 96516681 missense probably damaging 1.00
R7216:Polk UTSW 13 96508220 missense probably benign 0.32
R7654:Polk UTSW 13 96496813 missense probably benign 0.02
Posted On2014-05-07