|Institutional Source||Beutler Lab|
|Gene Name||RAD23 homolog B, nucleotide excision repair protein|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2198 (G1)|
|Chromosomal Location||55350043-55392237 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 55385497 bp|
|Amino Acid Change||Glycine to Arginine at position 345 (G345R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030134 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030134]|
|Predicted Effect||possibly damaging
AA Change: G345R
PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: G345R
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.042|
|Coding Region Coverage||
|Validation Efficiency||98% (60/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a disruption in this gene usually die around the time of birth. Those that survive show growth retardation, eye, reproductive, behavioral, and digestive system abnormalities. They usually die within 1 year of birth. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rad23b||
(F):5'- CATCATTTACCTTTCAGAACTGTTGTG -3'
(R):5'- TGGTAGCAGGAGCCACTAGC -3'
(F):5'- CTGGAATTAAAGTGTGACTCCCCG -3'
(R):5'- AGCCACTAGCCCAGGTG -3'