Incidental Mutation 'R6067:Rad23b'
ID 512208
Institutional Source Beutler Lab
Gene Symbol Rad23b
Ensembl Gene ENSMUSG00000028426
Gene Name RAD23 homolog B, nucleotide excision repair protein
Synonyms mHR23B, 0610007D13Rik
MMRRC Submission 044231-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6067 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 55350043-55392237 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 55370400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 142 (A142V)
Ref Sequence ENSEMBL: ENSMUSP00000030134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030134]
AlphaFold P54728
PDB Structure The Mouse PNGase-HR23 Complex Reveals a Complete Remodulation of the Protein-Protein Interface Compared to its Yeast Orthologs [X-RAY DIFFRACTION]
The Mouse PNGase-HR23 Complex Reveals a Complete Remodulation of the Protein-Protein Interface Compared to its Yeast Orthologs [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000030134
AA Change: A142V

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030134
Gene: ENSMUSG00000028426
AA Change: A142V

DomainStartEndE-ValueType
UBQ 1 75 8.79e-24 SMART
low complexity region 79 143 N/A INTRINSIC
UBA 190 227 3.1e-11 SMART
low complexity region 257 270 N/A INTRINSIC
STI1 274 317 3.37e-10 SMART
UBA 373 410 6.35e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127266
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156263
Meta Mutation Damage Score 0.0671 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (42/43)
MGI Phenotype 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
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 C T 8: 41,277,630 (GRCm39) A7V probably benign Het
Cbfa2t3 T C 8: 123,370,236 (GRCm39) H53R probably benign Het
Fam90a1b T C X: 93,400,191 (GRCm39) N213S probably benign Het
Insm2 T C 12: 55,646,799 (GRCm39) I181T probably damaging Het
Kitl G A 10: 99,912,768 (GRCm39) probably null Het
Muc4 T A 16: 32,575,621 (GRCm39) probably benign Het
Muc4 C A 16: 32,754,529 (GRCm38) H1468N probably benign Het
Nop14 T C 5: 34,815,295 (GRCm39) D85G probably damaging Het
Pgk1 C A X: 105,238,098 (GRCm39) L85I possibly damaging Het
Satl1 T C X: 111,315,613 (GRCm39) T281A probably benign Het
Spmap2 A G 10: 79,420,589 (GRCm39) S159P probably damaging Het
Tbx5 T C 5: 120,021,211 (GRCm39) S406P probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Zfp1 T C 8: 112,396,975 (GRCm39) F299S probably damaging Het
Other mutations in Rad23b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Rad23b APN 4 55,366,774 (GRCm39) splice site probably benign
IGL01326:Rad23b APN 4 55,383,601 (GRCm39) missense possibly damaging 0.95
IGL02398:Rad23b APN 4 55,350,360 (GRCm39) utr 5 prime probably benign
IGL02506:Rad23b APN 4 55,382,511 (GRCm39) missense probably benign 0.01
IGL02538:Rad23b APN 4 55,370,457 (GRCm39) missense possibly damaging 0.67
Saguaro UTSW 4 55,370,474 (GRCm39) critical splice donor site probably null
R0278:Rad23b UTSW 4 55,383,575 (GRCm39) splice site probably null
R1846:Rad23b UTSW 4 55,383,637 (GRCm39) nonsense probably null
R2198:Rad23b UTSW 4 55,385,497 (GRCm39) missense possibly damaging 0.68
R2425:Rad23b UTSW 4 55,385,438 (GRCm39) missense probably damaging 0.99
R3774:Rad23b UTSW 4 55,382,589 (GRCm39) missense possibly damaging 0.95
R3781:Rad23b UTSW 4 55,382,586 (GRCm39) missense probably damaging 1.00
R4197:Rad23b UTSW 4 55,385,455 (GRCm39) missense probably damaging 0.98
R5911:Rad23b UTSW 4 55,370,474 (GRCm39) critical splice donor site probably null
R6056:Rad23b UTSW 4 55,382,540 (GRCm39) missense probably benign 0.01
R6078:Rad23b UTSW 4 55,370,400 (GRCm39) missense probably damaging 0.97
R6079:Rad23b UTSW 4 55,370,400 (GRCm39) missense probably damaging 0.97
R7426:Rad23b UTSW 4 55,370,469 (GRCm39) missense probably benign 0.00
U15987:Rad23b UTSW 4 55,370,400 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CTGTGCTGTTTAACACATCCAG -3'
(R):5'- CAGACACAAGTGCATGATTCAG -3'

Sequencing Primer
(F):5'- AGTGACCACAGCAGTGC -3'
(R):5'- GACACAAGTGCATGATTCAGATTTC -3'
Posted On 2018-04-12