Incidental Mutation 'IGL02578:Polh'
ID 299262
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polh
Ensembl Gene ENSMUSG00000023953
Gene Name polymerase (DNA directed), eta (RAD 30 related)
Synonyms RAD30A
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # IGL02578
Quality Score
Status
Chromosome 17
Chromosomal Location 46482281-46513567 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 46505218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 133 (Q133*)
Ref Sequence ENSEMBL: ENSMUSP00000024749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024749]
AlphaFold Q9JJN0
Predicted Effect probably null
Transcript: ENSMUST00000024749
AA Change: Q133*
SMART Domains Protein: ENSMUSP00000024749
Gene: ENSMUSG00000023953
AA Change: Q133*

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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 G A 7: 120,023,179 (GRCm39) probably null Het
Ago1 T A 4: 126,333,324 (GRCm39) D545V probably benign Het
Arid2 T C 15: 96,270,116 (GRCm39) S1410P probably benign Het
Cbfa2t3 T A 8: 123,360,187 (GRCm39) D488V possibly damaging Het
Cdx2 T C 5: 147,240,094 (GRCm39) D194G probably damaging Het
Cyp4a32 A G 4: 115,466,939 (GRCm39) Q208R possibly damaging Het
Degs1 A C 1: 182,106,592 (GRCm39) Y222* probably null Het
Dnah7a T A 1: 53,472,074 (GRCm39) E3564D probably benign Het
Dsg4 A T 18: 20,604,250 (GRCm39) I906F possibly damaging Het
Elovl3 A G 19: 46,123,132 (GRCm39) H236R possibly damaging Het
Foxp2 A G 6: 15,376,814 (GRCm39) probably benign Het
Gm9892 A T 8: 52,649,328 (GRCm39) noncoding transcript Het
Herc2 A G 7: 55,756,283 (GRCm39) probably null Het
Hhat A G 1: 192,376,221 (GRCm39) V304A probably damaging Het
Il16 C T 7: 83,327,194 (GRCm39) probably null Het
Kansl1l G A 1: 66,840,848 (GRCm39) Q151* probably null Het
Kmt2c G T 5: 25,571,198 (GRCm39) probably benign Het
Krt39 T C 11: 99,412,032 (GRCm39) N18S probably benign Het
Lcor G T 19: 41,547,589 (GRCm39) G391V probably damaging Het
Mical2 A T 7: 111,950,580 (GRCm39) T845S probably benign Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Mphosph8 C T 14: 56,911,667 (GRCm39) A230V probably benign Het
Myh2 T A 11: 67,077,517 (GRCm39) M884K probably benign Het
Nlrp3 T C 11: 59,439,227 (GRCm39) L268P probably damaging Het
Ntng1 T A 3: 110,042,710 (GRCm39) T39S probably benign Het
Or10ag58 T A 2: 87,265,401 (GRCm39) I190K probably damaging Het
Or1j14 A C 2: 36,418,156 (GRCm39) H244P probably damaging Het
Or5al7 A T 2: 85,993,073 (GRCm39) Y73* probably null Het
Pde4b T A 4: 102,112,494 (GRCm39) M26K possibly damaging Het
Postn A T 3: 54,284,625 (GRCm39) N647I possibly damaging Het
Scimp T A 11: 70,682,387 (GRCm39) I110F possibly damaging Het
Sell A G 1: 163,893,165 (GRCm39) D127G probably damaging Het
Serpinb12 G A 1: 106,883,220 (GRCm39) probably null Het
She A G 3: 89,739,373 (GRCm39) E188G probably damaging Het
Shisal2a C T 4: 108,225,225 (GRCm39) M112I probably benign Het
Slc22a1 T C 17: 12,886,126 (GRCm39) Y169C probably damaging Het
Slco2a1 C T 9: 102,923,957 (GRCm39) T57I probably damaging Het
Sox2 A T 3: 34,704,745 (GRCm39) M61L probably benign Het
Sra1 G A 18: 36,803,150 (GRCm39) Q32* probably null Het
Syne2 T A 12: 76,069,053 (GRCm39) S4340T possibly damaging Het
Ucn A C 5: 31,295,738 (GRCm39) W43G possibly damaging Het
Xdh C T 17: 74,213,241 (GRCm39) M836I probably damaging Het
Xirp2 T A 2: 67,341,591 (GRCm39) D1277E 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
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
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
Posted On 2015-04-16