Incidental Mutation 'R6712:Polh'
ID 529187
Institutional Source Beutler Lab
Gene Symbol Polh
Ensembl Gene ENSMUSG00000023953
Gene Name polymerase (DNA directed), eta (RAD 30 related)
Synonyms RAD30A
MMRRC Submission 044830-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R6712 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 46482281-46513567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46501655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 179 (S179G)
Ref Sequence ENSEMBL: ENSMUSP00000024749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024749]
AlphaFold Q9JJN0
Predicted Effect probably benign
Transcript: ENSMUST00000024749
AA Change: S179G

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000024749
Gene: ENSMUSG00000023953
AA Change: S179G

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
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 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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l G A 17: 32,551,862 (GRCm39) T443M probably damaging Het
Ankmy1 A T 1: 92,798,644 (GRCm39) V950D probably damaging Het
Cep350 T C 1: 155,733,852 (GRCm39) K3014E possibly damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Dmxl2 A G 9: 54,318,908 (GRCm39) Y1586H probably damaging Het
Dnah11 A T 12: 118,014,457 (GRCm39) I2010N probably damaging Het
Dock10 T A 1: 80,514,583 (GRCm39) M1446L probably benign Het
Fcmr T C 1: 130,805,588 (GRCm39) L274P probably damaging Het
Foxn1 T G 11: 78,252,085 (GRCm39) D382A probably damaging Het
Gpr179 T C 11: 97,226,993 (GRCm39) R1721G possibly damaging Het
H2aj A G 6: 136,785,524 (GRCm39) I63V probably benign Het
Mfsd9 T C 1: 40,825,601 (GRCm39) probably null Het
Mis18a T C 16: 90,524,045 (GRCm39) E39G possibly damaging Het
Mmp27 A T 9: 7,572,177 (GRCm39) T126S probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Myo5a A C 9: 75,120,182 (GRCm39) D1635A probably benign Het
Ngdn T C 14: 55,253,645 (GRCm39) V11A probably benign Het
Nlrc4 A T 17: 74,753,831 (GRCm39) M184K probably damaging Het
Or10h28 T G 17: 33,488,242 (GRCm39) H181Q possibly damaging Het
Or52e15 A T 7: 104,645,625 (GRCm39) I162K possibly damaging Het
Peli2 C A 14: 48,488,051 (GRCm39) Q81K probably benign Het
Pfdn2 T A 1: 171,185,419 (GRCm39) I97K probably damaging Het
Pknox1 C A 17: 31,814,290 (GRCm39) T205K probably benign Het
Ppp4r4 G A 12: 103,562,702 (GRCm39) R557Q probably damaging Het
Sipa1 A T 19: 5,710,847 (GRCm39) D54E possibly damaging Het
Tmc8 C A 11: 117,675,639 (GRCm39) N185K probably benign Het
Tns1 C A 1: 74,118,460 (GRCm39) E57* probably null Het
Tyro3 G A 2: 119,635,335 (GRCm39) A209T probably null Het
Ube2f T A 1: 91,204,171 (GRCm39) C116S possibly damaging Het
Vmn1r231 T C 17: 21,109,992 (GRCm39) T308A possibly damaging Het
Wwc2 T A 8: 48,353,838 (GRCm39) M99L probably benign Het
Zfp516 C T 18: 82,975,433 (GRCm39) R544C probably damaging Het
Zfp764l1 A T 7: 126,991,482 (GRCm39) H168Q probably damaging 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
R6545:Polh UTSW 17 46,493,685 (GRCm39) missense possibly damaging 0.74
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'- CTCTGAATACCCACCAATATCCTTG -3'
(R):5'- GCCCTTGAGCAAATATTGTGTG -3'

Sequencing Primer
(F):5'- AATACCCACCAATATCCTTGTTGTAC -3'
(R):5'- ACCTTTAATTCCGACACTTGGGAGG -3'
Posted On 2018-07-24