|Institutional Source||Beutler Lab|
|Gene Name||excision repair cross-complementing rodent repair deficiency, complementation group 5|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7994 (G1)|
|Chromosomal Location||44147744-44181260 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 44178334 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 946 (S946P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027214 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027214]|
|AlphaFold||no structure available at present|
AA Change: S946P
PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: S946P
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous null mice display postnatal mortality, severely retarded postnatal growth, impaired small intestine development, reduced organ size, and hypersensitivity to UV irradiation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ercc5||
(F):5'- GTGTGGCAACTGTAACATCTCCC -3'
(R):5'- TGATTCTATCAGGTCTGCAGC -3'
(F):5'- ATTGCTCCTGTTATCTTACAGAGAG -3'
(R):5'- CTATCAGGTCTGCAGCTGGGATG -3'