Incidental Mutation 'R6545:Polh'
ID 521149
Institutional Source Beutler Lab
Gene Symbol Polh
Ensembl Gene ENSMUSG00000023953
Gene Name polymerase (DNA directed), eta (RAD 30 related)
Synonyms RAD30A
MMRRC Submission 044671-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R6545 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 46482281-46513567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 46493685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 311 (P311S)
Ref Sequence ENSEMBL: ENSMUSP00000024749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024749]
AlphaFold Q9JJN0
Predicted Effect possibly damaging
Transcript: ENSMUST00000024749
AA Change: P311S

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000024749
Gene: ENSMUSG00000023953
AA Change: P311S

DomainStartEndE-ValueType
Pfam:IMS 12 227 9.7e-53 PFAM
Pfam:IMS_C 308 435 5.8e-15 PFAM
low complexity region 515 529 N/A INTRINSIC
low complexity region 540 561 N/A INTRINSIC
PDB:2I5O|A 606 643 7e-15 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 95% (42/44)
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 Y family of specialized DNA polymerases. It copies undamaged DNA with a lower fidelity than other DNA-directed polymerases. However, it accurately replicates UV-damaged DNA; when thymine dimers are present, this polymerase inserts the complementary nucleotides in the newly synthesized DNA, thereby bypassing the lesion and suppressing the mutagenic effect of UV-induced DNA damage. This polymerase is thought to be involved in hypermutation during immunoglobulin class switch recombination. Mutations in this gene result in XPV, a variant type of xeroderma pigmentosum. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous inactivation of this gene causes increased susceptibility to UV-induced skin tumors and results in reduced immunoglobulin gene mutations at A-T base pairs with a G-C biased mutation pattern. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,348,145 (GRCm39) A58T possibly damaging Het
Ago4 T A 4: 126,405,811 (GRCm39) Q366L probably benign Het
Card10 C A 15: 78,661,010 (GRCm39) G950V probably damaging Het
Ceacam1 A T 7: 25,173,279 (GRCm39) V303D probably damaging Het
Cfap54 C T 10: 92,672,319 (GRCm39) R2917H probably benign Het
Cit A G 5: 115,984,493 (GRCm39) S22G probably null Het
Cog4 A G 8: 111,607,577 (GRCm39) E666G probably damaging Het
Crocc2 A G 1: 93,140,659 (GRCm39) D1103G probably benign Het
Cttnbp2 A T 6: 18,405,278 (GRCm39) probably null Het
Dctn3 T C 4: 41,723,084 (GRCm39) E16G probably damaging Het
Dnah6 A G 6: 73,021,715 (GRCm39) S3536P probably damaging Het
Eef2 T A 10: 81,016,948 (GRCm39) I675N probably damaging Het
Gga3 A G 11: 115,477,995 (GRCm39) F531S possibly damaging Het
Gm19410 A G 8: 36,257,652 (GRCm39) R697G possibly damaging Het
Gm3173 T A 14: 15,728,395 (GRCm39) M18K possibly damaging Het
Gm5800 A T 14: 51,949,419 (GRCm39) S175R possibly damaging Het
Gria2 T C 3: 80,648,451 (GRCm39) K95R probably damaging Het
Gstm6 A G 3: 107,849,681 (GRCm39) I76T probably damaging Het
Harbi1 T G 2: 91,542,640 (GRCm39) Y34D probably damaging Het
Hectd2 C A 19: 36,564,778 (GRCm39) Q20K probably benign Het
Inpp5f C A 7: 128,296,280 (GRCm39) A250D possibly damaging Het
Irf9 T C 14: 55,842,684 (GRCm39) F59L probably damaging Het
Itgam T A 7: 127,707,044 (GRCm39) M625K probably damaging Het
Kcnh5 C T 12: 75,054,432 (GRCm39) R504Q probably damaging Het
Lama2 T C 10: 27,052,793 (GRCm39) T1389A probably benign Het
Lin54 T A 5: 100,632,996 (GRCm39) probably null Het
Mettl23 A G 11: 116,740,042 (GRCm39) D171G possibly damaging Het
Mgll A G 6: 88,802,685 (GRCm39) N296S probably benign Het
Mpv17 T A 5: 31,302,041 (GRCm39) probably benign Het
Myof A T 19: 37,930,745 (GRCm39) M1001K possibly damaging Het
Myom1 A T 17: 71,389,300 (GRCm39) Q850L probably benign Het
Or10ab5 A T 7: 108,245,662 (GRCm39) N40K probably damaging Het
Pias2 A G 18: 77,217,781 (GRCm39) I328V possibly damaging Het
Prss34 A T 17: 25,517,809 (GRCm39) R61S probably benign Het
Rassf2 A T 2: 131,840,237 (GRCm39) M280K probably damaging Het
Rpsa A G 9: 119,959,323 (GRCm39) H47R probably benign Het
Rtp3 A G 9: 110,815,894 (GRCm39) V219A possibly damaging Het
Smarcc2 T C 10: 128,319,997 (GRCm39) I790T probably benign Het
Stag3 A G 5: 138,296,614 (GRCm39) T491A possibly damaging Het
Svil C T 18: 5,108,621 (GRCm39) H2007Y probably benign Het
Togaram1 T G 12: 65,024,981 (GRCm39) C750G possibly damaging Het
Vmn2r13 A T 5: 109,304,806 (GRCm39) probably null Het
Vmn2r4 A T 3: 64,313,777 (GRCm39) D401E possibly damaging Het
Wdr97 C T 15: 76,247,578 (GRCm39) R1585C probably damaging Het
Wsb1 A T 11: 79,141,881 (GRCm39) D45E probably damaging Het
Zfp808 T A 13: 62,319,709 (GRCm39) Y313N probably benign Het
Other mutations in Polh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Polh APN 17 46,483,169 (GRCm39) unclassified probably benign
IGL00585:Polh APN 17 46,483,169 (GRCm39) unclassified probably benign
IGL01812:Polh APN 17 46,483,837 (GRCm39) missense probably benign 0.04
IGL01996:Polh APN 17 46,483,927 (GRCm39) missense probably benign 0.00
IGL02578:Polh APN 17 46,505,218 (GRCm39) nonsense probably null
IGL02829:Polh APN 17 46,483,828 (GRCm39) missense possibly damaging 0.82
IGL03003:Polh APN 17 46,505,292 (GRCm39) missense possibly damaging 0.57
R1435:Polh UTSW 17 46,505,181 (GRCm39) missense probably damaging 1.00
R2091:Polh UTSW 17 46,492,380 (GRCm39) splice site probably benign
R2129:Polh UTSW 17 46,499,014 (GRCm39) nonsense probably null
R4226:Polh UTSW 17 46,483,520 (GRCm39) missense probably benign
R4227:Polh UTSW 17 46,483,520 (GRCm39) missense probably benign
R5483:Polh UTSW 17 46,483,671 (GRCm39) missense probably benign 0.01
R5878:Polh UTSW 17 46,505,251 (GRCm39) missense probably damaging 0.99
R6039:Polh UTSW 17 46,498,959 (GRCm39) missense probably benign 0.00
R6039:Polh UTSW 17 46,498,959 (GRCm39) missense probably benign 0.00
R6177:Polh UTSW 17 46,495,670 (GRCm39) missense possibly damaging 0.94
R6345:Polh UTSW 17 46,493,664 (GRCm39) missense probably benign 0.03
R6712:Polh UTSW 17 46,501,655 (GRCm39) missense probably benign 0.12
R7054:Polh UTSW 17 46,509,642 (GRCm39) missense probably benign 0.24
R7708:Polh UTSW 17 46,483,626 (GRCm39) missense probably benign 0.00
R7855:Polh UTSW 17 46,486,174 (GRCm39) missense probably damaging 1.00
R9700:Polh UTSW 17 46,510,414 (GRCm39) missense probably damaging 1.00
R9732:Polh UTSW 17 46,498,997 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCAGCCAGTCCTATTTTACAC -3'
(R):5'- TCGAATCTATAGGCCTGGTAGG -3'

Sequencing Primer
(F):5'- AGTCTGATGACAGCTCCAGTGTAC -3'
(R):5'- ATCTATAGGCCTGGTAGGATCAC -3'
Posted On 2018-06-06