|Institutional Source||Beutler Lab|
|Gene Name||xeroderma pigmentosum, complementation group C|
|Is this an essential gene?||Possibly non essential (E-score: 0.445)|
|Stock #||R0535 (G1)|
|Chromosomal Location||91489305-91515888 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 91504578 bp|
|Amino Acid Change||Valine to Isoleucine at position 254 (V254I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032182 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032182] [ENSMUST00000206476]|
|Predicted Effect||possibly damaging
AA Change: V254I
PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: V254I
AA Change: V252I
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||96% (52/54)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation. Mutations in this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous mutants are highly susceptible to ultraviolet-induced skin tumors and exhibit a 30-fold higher somatic frequency of gene mutations at one year of age. Mutant cells exhibit impaired nucleotide excision repair. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Xpc||
(F):5'- AGCTAGTGCTCACCATCACTGACC -3'
(R):5'- AAGCACAGCCAGTGTTCTCTGTCC -3'
(F):5'- TCACACTAGCCTGAGTATGCG -3'
(R):5'- CAGACCATCTGAACTGGGCAG -3'