|Institutional Source||Beutler Lab|
|Gene Name||polymerase (DNA directed), eta (RAD 30 related)|
|Is this an essential gene?||Possibly non essential (E-score: 0.438)|
|Stock #||R6345 (G1)|
|Chromosomal Location||46172004-46202625 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 46182738 bp|
|Amino Acid Change||Isoleucine to Valine at position 318 (I318V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024749 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024749]|
|Predicted Effect||probably benign
AA Change: I318V
PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: I318V
|Meta Mutation Damage Score||0.12|
|Coding Region Coverage||
|Validation Efficiency||100% (61/61)|
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||
|Other mutations in Polh||
(F):5'- TGCAGCCAGTCCTATTTTACAC -3'
(R):5'- AGGATCACAATTAGAGGCCAGTTG -3'
(F):5'- AGTCTGATGACAGCTCCAGTGTAC -3'
(R):5'- TGAATGAACGGTGAGACCTTCTC -3'