Incidental Mutation 'R1789:Polk'
ID 201656
Institutional Source Beutler Lab
Gene Symbol Polk
Ensembl Gene ENSMUSG00000021668
Gene Name polymerase (DNA directed), kappa
Synonyms Dinb1
MMRRC Submission 039820-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.169) question?
Stock # R1789 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 96480690-96542579 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96496632 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 301 (E301G)
Ref Sequence ENSEMBL: ENSMUSP00000022172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022172] [ENSMUST00000091387] [ENSMUST00000220977] [ENSMUST00000221645] [ENSMUST00000221899] [ENSMUST00000222075] [ENSMUST00000222143] [ENSMUST00000222389]
AlphaFold Q9QUG2
PDB Structure Solution structure of the mouse Rev1 CTD in complex with the Rev1-interacting Region (RIR)of Pol Kappa [SOLUTION NMR]
Structure of the Rev1 CTD-Rev3/7-Pol kappa RIR complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000022172
AA Change: E301G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000022172
Gene: ENSMUSG00000021668
AA Change: E301G

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 possibly damaging
Transcript: ENSMUST00000221645
AA Change: E301G

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000221899
Predicted Effect probably benign
Transcript: ENSMUST00000222075
Predicted Effect probably benign
Transcript: ENSMUST00000222143
Predicted Effect probably benign
Transcript: ENSMUST00000222389
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.1%
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,365,951 (GRCm38) P986L probably damaging Het
Acad10 A T 5: 121,631,393 (GRCm38) Y667N possibly damaging Het
Ahi1 G A 10: 20,963,115 (GRCm38) G121D probably benign Het
Ampd1 T A 3: 103,099,126 (GRCm38) I690N possibly damaging Het
Amy1 C A 3: 113,558,165 (GRCm38) W425L possibly damaging Het
Arhgap27 A T 11: 103,333,005 (GRCm38) V823E probably damaging Het
Arhgef17 A G 7: 100,929,870 (GRCm38) S624P probably damaging Het
Arid5b T C 10: 68,186,067 (GRCm38) H231R probably damaging Het
Aspscr1 C A 11: 120,688,560 (GRCm38) T78N probably damaging Het
Auts2 T A 5: 131,472,450 (GRCm38) T42S probably damaging Het
Ccdc171 A G 4: 83,554,808 (GRCm38) D158G probably damaging Het
Ces4a G A 8: 105,138,097 (GRCm38) G69S probably damaging Het
Cfap61 T C 2: 145,939,993 (GRCm38) probably null Het
Chrna5 T C 9: 55,004,651 (GRCm38) V245A possibly damaging Het
Cntnap5c G A 17: 58,013,921 (GRCm38) G163R probably damaging Het
Col5a2 A G 1: 45,378,305 (GRCm38) probably null Het
Col5a2 T C 1: 45,394,776 (GRCm38) Q759R probably damaging Het
Comp A G 8: 70,377,146 (GRCm38) D340G probably benign Het
Cyfip1 T A 7: 55,926,395 (GRCm38) D1104E probably damaging Het
Dnah11 A T 12: 118,038,780 (GRCm38) S308T probably damaging Het
Dnah5 A G 15: 28,270,426 (GRCm38) H958R probably benign Het
Elp3 A G 14: 65,547,919 (GRCm38) Y478H probably damaging Het
Fat3 T C 9: 16,376,985 (GRCm38) Y414C probably benign Het
Fbxo10 C A 4: 45,046,389 (GRCm38) A574S probably damaging Het
Fsip2 G T 2: 82,977,562 (GRCm38) L1408F probably benign Het
Fubp3 T C 2: 31,611,735 (GRCm38) V425A possibly damaging Het
Gm7168 A T 17: 13,949,584 (GRCm38) R404S probably benign Het
Gm8773 A T 5: 5,575,652 (GRCm38) Q116L possibly damaging Het
Gpd1 T G 15: 99,723,202 (GRCm38) F299C probably damaging Het
Gpr137 C T 19: 6,942,057 (GRCm38) probably benign Het
Grin3b T C 10: 79,973,408 (GRCm38) S331P probably benign Het
Grk3 T A 5: 112,941,718 (GRCm38) I281F probably damaging Het
Hoxb7 T A 11: 96,286,781 (GRCm38) S18R probably damaging Het
Igf1r C T 7: 68,214,933 (GRCm38) R1160* probably null Het
Itfg1 A G 8: 85,725,512 (GRCm38) probably null Het
Itgb8 T C 12: 119,202,455 (GRCm38) I114V probably benign Het
Kcnk1 A G 8: 126,025,384 (GRCm38) E243G possibly damaging Het
Kif27 A G 13: 58,344,008 (GRCm38) L439P probably damaging Het
Kif2c T A 4: 117,167,361 (GRCm38) Q279L probably benign Het
Kmt2d A T 15: 98,852,074 (GRCm38) probably benign Het
L3mbtl1 A G 2: 162,974,502 (GRCm38) T821A probably benign Het
Lrrc24 A T 15: 76,722,578 (GRCm38) M206K probably benign Het
Mamdc4 T G 2: 25,567,622 (GRCm38) K460Q possibly damaging Het
Maml2 C G 9: 13,697,345 (GRCm38) L30V probably damaging Het
Mc5r C G 18: 68,338,670 (GRCm38) probably null Het
Myo10 T G 15: 25,726,525 (GRCm38) probably null Het
Myo1e T A 9: 70,338,784 (GRCm38) L419Q probably damaging Het
Myo6 C A 9: 80,300,572 (GRCm38) H1115Q probably damaging Het
Myo7a A G 7: 98,107,095 (GRCm38) V10A probably damaging Het
Myoz2 C T 3: 123,026,127 (GRCm38) R61H probably damaging Het
Ncdn G A 4: 126,752,003 (GRCm38) R38C probably damaging Het
Nckap1 T A 2: 80,520,556 (GRCm38) T736S probably benign Het
Ncor2 G A 5: 125,019,890 (GRCm38) A2325V probably damaging Het
Nid2 T A 14: 19,752,431 (GRCm38) V140E possibly damaging Het
Nlrp9c C A 7: 26,380,490 (GRCm38) D704Y probably benign Het
Notch3 T A 17: 32,158,725 (GRCm38) S126C probably damaging Het
Olfr1128 A T 2: 87,544,983 (GRCm38) L187H probably damaging Het
Olfr130 T C 17: 38,067,948 (GRCm38) I259T probably damaging Het
Olfr215 A C 6: 116,582,697 (GRCm38) F83C probably damaging Het
Olfr484 A G 7: 108,124,915 (GRCm38) F116S probably benign Het
Olfr804 T C 10: 129,705,607 (GRCm38) M243T possibly damaging Het
Olfr818 A T 10: 129,945,582 (GRCm38) L160* probably null Het
Pdzd7 A G 19: 45,039,228 (GRCm38) I269T probably damaging Het
Phf3 A T 1: 30,806,206 (GRCm38) D1299E probably damaging Het
Pitx2 T A 3: 129,218,754 (GRCm38) Y271N probably damaging Het
Prkdc C A 16: 15,739,524 (GRCm38) N2230K probably damaging Het
Prlr A G 15: 10,322,536 (GRCm38) E170G probably benign Het
Prss55 A G 14: 64,075,730 (GRCm38) I235T probably damaging Het
Psd3 T C 8: 67,960,565 (GRCm38) I724V probably benign Het
Rabep2 A G 7: 126,438,799 (GRCm38) T248A possibly damaging Het
Rbm26 T A 14: 105,117,073 (GRCm38) K949N probably benign Het
Rnf213 T A 11: 119,440,221 (GRCm38) D2085E probably damaging Het
Serpinb7 A T 1: 107,450,273 (GRCm38) H232L possibly damaging Het
Slu7 A G 11: 43,445,242 (GRCm38) Q484R probably benign Het
Smg1 A G 7: 118,145,798 (GRCm38) S3044P possibly damaging Het
Snrnp48 A G 13: 38,221,360 (GRCm38) D248G possibly damaging Het
Snrpc C A 17: 27,845,219 (GRCm38) P66Q unknown Het
Snrpn T A 7: 59,983,459 (GRCm38) probably benign Het
Spag17 T A 3: 99,939,356 (GRCm38) S65R possibly damaging Het
Srsf6 C A 2: 162,934,488 (GRCm38) probably benign Het
Stil T A 4: 115,041,782 (GRCm38) M1203K probably benign Het
Syt17 T C 7: 118,436,838 (GRCm38) T106A probably benign Het
Tbx15 C T 3: 99,352,246 (GRCm38) Q478* probably null Het
Tg A T 15: 66,737,548 (GRCm38) Q319L probably benign Het
Thada A G 17: 84,448,033 (GRCm38) L243P probably damaging Het
Thada G T 17: 84,448,034 (GRCm38) L243I probably damaging Het
Tnnt3 A G 7: 142,512,364 (GRCm38) R211G probably damaging Het
Togaram1 A T 12: 65,002,635 (GRCm38) Q1282L possibly damaging Het
Tpm3-rs7 T G 14: 113,314,947 (GRCm38) M91R probably damaging Het
Trappc9 G A 15: 73,025,967 (GRCm38) R377W probably damaging Het
Ttll7 T G 3: 146,915,780 (GRCm38) L378R probably damaging Het
Tyw1 T G 5: 130,258,993 (GRCm38) I22R probably damaging Het
Ubr3 T C 2: 70,016,367 (GRCm38) S1645P possibly damaging Het
Ubr4 T C 4: 139,393,053 (GRCm38) L263P probably damaging Het
Unc13c T C 9: 73,756,339 (GRCm38) E1071G possibly damaging Het
Vmn2r44 G T 7: 8,380,123 (GRCm38) D157E possibly damaging Het
Vps16 C T 2: 130,443,600 (GRCm38) T821I probably benign Het
Washc4 T C 10: 83,579,525 (GRCm38) V793A possibly damaging Het
Wdr35 G T 12: 8,977,435 (GRCm38) probably null Het
Zfp277 A G 12: 40,364,085 (GRCm38) F254L probably benign Het
Other mutations in Polk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Polk APN 13 96,496,760 (GRCm38) missense probably benign 0.25
IGL01803:Polk APN 13 96,504,522 (GRCm38) missense probably damaging 1.00
IGL01949:Polk APN 13 96,483,538 (GRCm38) missense probably benign 0.10
IGL01986:Polk APN 13 96,483,823 (GRCm38) missense probably benign 0.09
IGL02073:Polk APN 13 96,504,551 (GRCm38) missense probably damaging 1.00
IGL03165:Polk APN 13 96,516,688 (GRCm38) missense probably benign 0.23
IGL03184:Polk APN 13 96,483,983 (GRCm38) missense probably benign 0.04
IGL03353:Polk APN 13 96,489,211 (GRCm38) missense probably damaging 1.00
R0019:Polk UTSW 13 96,504,616 (GRCm38) missense probably damaging 1.00
R0029:Polk UTSW 13 96,516,670 (GRCm38) missense probably damaging 1.00
R0200:Polk UTSW 13 96,496,822 (GRCm38) missense probably benign 0.11
R0357:Polk UTSW 13 96,504,597 (GRCm38) missense probably damaging 0.99
R0485:Polk UTSW 13 96,483,764 (GRCm38) missense probably benign 0.05
R0555:Polk UTSW 13 96,484,179 (GRCm38) missense probably damaging 0.97
R0687:Polk UTSW 13 96,484,017 (GRCm38) missense probably damaging 1.00
R0980:Polk UTSW 13 96,483,764 (GRCm38) missense probably benign 0.05
R1065:Polk UTSW 13 96,508,252 (GRCm38) missense probably damaging 1.00
R1396:Polk UTSW 13 96,484,208 (GRCm38) missense probably benign 0.02
R1710:Polk UTSW 13 96,489,204 (GRCm38) missense probably damaging 1.00
R1770:Polk UTSW 13 96,495,442 (GRCm38) missense probably damaging 1.00
R1977:Polk UTSW 13 96,489,228 (GRCm38) missense probably damaging 1.00
R2301:Polk UTSW 13 96,484,144 (GRCm38) missense probably benign 0.09
R3797:Polk UTSW 13 96,486,982 (GRCm38) splice site probably benign
R3934:Polk UTSW 13 96,501,635 (GRCm38) missense possibly damaging 0.56
R4082:Polk UTSW 13 96,483,673 (GRCm38) missense probably benign 0.17
R4307:Polk UTSW 13 96,496,666 (GRCm38) missense possibly damaging 0.79
R4472:Polk UTSW 13 96,493,905 (GRCm38) missense probably damaging 1.00
R4779:Polk UTSW 13 96,496,491 (GRCm38) critical splice donor site probably null
R4795:Polk UTSW 13 96,489,256 (GRCm38) missense probably benign 0.01
R4796:Polk UTSW 13 96,489,256 (GRCm38) missense probably benign 0.01
R4810:Polk UTSW 13 96,483,495 (GRCm38) missense possibly damaging 0.90
R5002:Polk UTSW 13 96,489,244 (GRCm38) missense probably damaging 1.00
R5271:Polk UTSW 13 96,483,539 (GRCm38) missense probably benign 0.09
R5415:Polk UTSW 13 96,483,955 (GRCm38) missense probably benign
R5459:Polk UTSW 13 96,495,476 (GRCm38) missense probably damaging 1.00
R5535:Polk UTSW 13 96,495,497 (GRCm38) missense probably damaging 1.00
R5619:Polk UTSW 13 96,483,556 (GRCm38) missense probably damaging 1.00
R5757:Polk UTSW 13 96,484,252 (GRCm38) missense probably benign 0.03
R5801:Polk UTSW 13 96,483,586 (GRCm38) missense probably damaging 1.00
R5923:Polk UTSW 13 96,495,415 (GRCm38) missense probably damaging 1.00
R6365:Polk UTSW 13 96,484,009 (GRCm38) missense probably damaging 1.00
R6670:Polk UTSW 13 96,496,630 (GRCm38) nonsense probably null
R6831:Polk UTSW 13 96,495,491 (GRCm38) missense possibly damaging 0.87
R6932:Polk UTSW 13 96,516,681 (GRCm38) missense probably damaging 1.00
R7216:Polk UTSW 13 96,508,220 (GRCm38) missense probably benign 0.32
R7654:Polk UTSW 13 96,496,813 (GRCm38) missense probably benign 0.02
R8122:Polk UTSW 13 96,483,783 (GRCm38) missense probably benign 0.01
R8222:Polk UTSW 13 96,495,515 (GRCm38) missense possibly damaging 0.95
R9024:Polk UTSW 13 96,486,832 (GRCm38) missense probably benign 0.00
R9500:Polk UTSW 13 96,493,841 (GRCm38) missense probably damaging 0.99
R9789:Polk UTSW 13 96,493,895 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTAGACCTGTGATAGCTTTTGTGC -3'
(R):5'- TGTTTGTGATCCAGACACACC -3'

Sequencing Primer
(F):5'- GCTTGATTACAGCTTACCTGGAG -3'
(R):5'- ACTGAGTATGAGCGGTCCATCTC -3'
Posted On 2014-06-23