Incidental Mutation 'R9700:Polh'
ID 729536
Institutional Source Beutler Lab
Gene Symbol Polh
Ensembl Gene ENSMUSG00000023953
Gene Name polymerase (DNA directed), eta (RAD 30 related)
Synonyms RAD30A
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R9700 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 46482281-46513567 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46510414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 14 (M14K)
Ref Sequence ENSEMBL: ENSMUSP00000024749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024749] [ENSMUST00000087031]
AlphaFold Q9JJN0
Predicted Effect probably damaging
Transcript: ENSMUST00000024749
AA Change: M14K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024749
Gene: ENSMUSG00000023953
AA Change: M14K

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
Predicted Effect probably benign
Transcript: ENSMUST00000087031
SMART Domains Protein: ENSMUSP00000084257
Gene: ENSMUSG00000067150

DomainStartEndE-ValueType
IBN_N 33 100 6.73e-3 SMART
Pfam:Xpo1 109 271 1.4e-34 PFAM
low complexity region 326 342 N/A INTRINSIC
low complexity region 770 779 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 C T 15: 11,311,442 (GRCm39) S1233F probably benign Het
Aldh1a2 G T 9: 71,123,228 (GRCm39) E34* probably null Het
Arhgap39 T C 15: 76,611,617 (GRCm39) T856A probably damaging Het
Arpin A G 7: 79,578,015 (GRCm39) V138A probably damaging Het
Art3 T G 5: 92,562,120 (GRCm39) S373A unknown Het
AU018091 A T 7: 3,208,165 (GRCm39) I514N probably benign Het
BC034090 C T 1: 155,101,982 (GRCm39) R94H probably damaging Het
C2cd6 T G 1: 59,117,089 (GRCm39) M135L probably benign Het
Cdc42ep2 T C 19: 5,968,097 (GRCm39) M203V probably damaging Het
Cftr T C 6: 18,268,359 (GRCm39) Y803H probably damaging Het
Dcaf1 C T 9: 106,735,524 (GRCm39) T824I probably benign Het
Ddr1 A T 17: 35,993,288 (GRCm39) D906E probably damaging Het
Dhx8 G A 11: 101,624,015 (GRCm39) probably null Het
Dpysl5 C T 5: 30,904,417 (GRCm39) Q88* probably null Het
Ercc6l2 A G 13: 63,967,525 (GRCm39) T42A probably benign Het
Faf1 A G 4: 109,748,179 (GRCm39) K495E possibly damaging Het
Hr T C 14: 70,804,616 (GRCm39) V928A probably benign Het
Ints14 C T 9: 64,880,007 (GRCm39) R174* probably null Het
Jam3 T C 9: 27,010,183 (GRCm39) Y267C probably damaging Het
Lpin3 A T 2: 160,740,565 (GRCm39) N370I probably benign Het
Mad2l1 C A 6: 66,512,955 (GRCm39) N29K probably damaging Het
Myt1 A G 2: 181,452,177 (GRCm39) K838R probably damaging Het
Ninj2 T C 6: 120,174,873 (GRCm39) S15P probably benign Het
Or14a256 A T 7: 86,265,618 (GRCm39) N78K probably benign Het
Or1j14 T A 2: 36,418,313 (GRCm39) D296E probably benign Het
Or6b9 A G 7: 106,555,630 (GRCm39) V171A probably benign Het
Or9a2 T A 6: 41,749,076 (GRCm39) K52N probably benign Het
Osgin2 A G 4: 16,006,455 (GRCm39) S80P probably damaging Het
Pcdha5 A G 18: 37,094,447 (GRCm39) N319D probably benign Het
Phkb A G 8: 86,567,696 (GRCm39) K14E probably benign Het
Pip5k1b T C 19: 24,281,460 (GRCm39) Y518C probably benign Het
Prtg A G 9: 72,762,313 (GRCm39) D480G probably benign Het
Ptprk T C 10: 28,456,495 (GRCm39) V1099A probably damaging Het
Pum2 T C 12: 8,779,044 (GRCm39) F539L probably damaging Het
Rac3 A T 11: 120,613,399 (GRCm39) T58S probably damaging Het
Setd1a A T 7: 127,385,752 (GRCm39) I820F possibly damaging Het
Six2 A G 17: 85,994,867 (GRCm39) F172L probably damaging Het
Spic T A 10: 88,515,757 (GRCm39) I22F probably benign Het
Tex30 T C 1: 44,130,374 (GRCm39) probably null Het
Tgfbi T C 13: 56,778,411 (GRCm39) I394T probably benign Het
Tnc A G 4: 63,933,186 (GRCm39) F693L probably damaging Het
Ubr4 T A 4: 139,119,388 (GRCm39) V189E probably damaging Het
Vegfa G A 17: 46,342,713 (GRCm39) P35L probably damaging Het
Zan T C 5: 137,454,836 (GRCm39) H1400R unknown Het
Zfp36l2 A G 17: 84,494,184 (GRCm39) I151T possibly damaging Het
Zfp809 T C 9: 22,154,470 (GRCm39) C396R unknown Het
Zfp93 G A 7: 23,974,894 (GRCm39) G293D 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
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
R9732:Polh UTSW 17 46,498,997 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACACAACTACTGACTTTCCATAGA -3'
(R):5'- GTTGTGGCTCATCAATTAGAATGT -3'

Sequencing Primer
(F):5'- GAGCTTCAGGTTCAATGACAGACTC -3'
(R):5'- TGTAAAACTGAAAGATCTGCCTGCC -3'
Posted On 2022-10-06