|Institutional Source||Beutler Lab|
|Gene Name||polymerase (DNA directed), eta (RAD 30 related)|
|Is this an essential gene?||Possibly non essential (E-score: 0.427)|
|Stock #||R5878 (G1)|
|Chromosomal Location||46172004-46202625 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 46194325 bp|
|Amino Acid Change||Threonine to Serine at position 122 (T122S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024749 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024749]|
|Predicted Effect||probably damaging
AA Change: T122S
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: T122S
|Meta Mutation Damage Score||0.7158|
|Coding Region Coverage||
|Validation Efficiency||99% (66/67)|
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'- TCAGCTTAGCCACGAAAAGC -3'
(R):5'- TGTTGCATCTCTATTAAGCCACTTG -3'
(F):5'- CTTAGCCACGAAAAGCAGCAGG -3'
(R):5'- GCCACTTGCTACTTGCTTATGG -3'