|Institutional Source||Beutler Lab|
|Gene Name||xeroderma pigmentosum, complementation group A|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1863 (G1)|
|Chromosomal Location||46155347-46196311 bp(-) (GRCm38)|
|Type of Mutation||intron|
|DNA Base Change (assembly)||A to G at 46155730 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000030014 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030014] [ENSMUST00000058232]|
|Predicted Effect||probably benign
AA Change: V256A
AA Change: V256A
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein involved in DNA excision repair. The encoded protein is part of the NER (nucleotide excision repair) complext which is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens. Mutations in this gene are associated with xeroderma pigmentosum complementation group A. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous null mutants are highly susceptible to tumors induced by UV (skin and ocular tumors), 7,12-dimethylbenz[a]anthracene (skin tumors), benzo[a]pyrene (pulmonary tumors), 4-nitroquinoline-1-oxide (tongue tumors) and aflatoxin B(1) (liver tumors). [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Xpa||
(F):5'- ACCCACAAGTGTTCTCTGC -3'
(R):5'- AAAGAACCACGGTGCCTTCC -3'
(F):5'- CCATACACAATGCATGGATAGATG -3'
(R):5'- CTACCCCCTTTAGAGTACTGCAGAG -3'