Incidental Mutation 'IGL02538:Rad23b'
ID297595
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rad23b
Ensembl Gene ENSMUSG00000028426
Gene NameRAD23 homolog B, nucleotide excision repair protein
Synonyms0610007D13Rik, mHR23B
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02538
Quality Score
Status
Chromosome4
Chromosomal Location55350043-55392237 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 55370457 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 161 (P161Q)
Ref Sequence ENSEMBL: ENSMUSP00000030134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030134]
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 possibly damaging
Transcript: ENSMUST00000030134
AA Change: P161Q

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000030134
Gene: ENSMUSG00000028426
AA Change: P161Q

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
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,306,605 I171L possibly damaging Het
Amdhd1 C T 10: 93,527,246 V327I probably damaging Het
Ankrd1 T C 19: 36,115,056 H257R probably damaging Het
Ano5 G A 7: 51,583,775 R595H probably damaging Het
Atg2a A G 19: 6,257,628 T1531A probably benign Het
Bsn A G 9: 108,105,236 S1001P unknown Het
Btn1a1 T C 13: 23,459,215 T355A possibly damaging Het
Cd22 G T 7: 30,877,560 N107K probably benign Het
Ceacam10 A G 7: 24,778,483 H141R probably damaging Het
Chil3 T C 3: 106,164,129 D73G probably damaging Het
Cit C T 5: 115,986,989 Q1536* probably null Het
Dmgdh T A 13: 93,708,753 I418K possibly damaging Het
Efcab6 T A 15: 84,054,521 probably benign Het
Eif4g2 T C 7: 111,079,316 I110V probably benign Het
Fam217a T C 13: 34,911,113 Y221C probably damaging Het
Fezf1 T A 6: 23,246,558 K342N probably damaging Het
Git2 A T 5: 114,730,986 probably benign Het
Gm4951 A T 18: 60,245,872 K160* probably null Het
Gm8126 A T 14: 43,259,590 R63W probably benign Het
Ica1l T C 1: 60,010,186 K203E probably benign Het
Inpp5d A G 1: 87,695,366 M393V probably null Het
Kbtbd11 A G 8: 15,028,841 D480G probably damaging Het
Klhl1 T C 14: 96,240,213 N473S probably benign Het
Krt2 A G 15: 101,811,154 S694P unknown Het
Lhfp C T 3: 53,043,311 A2V probably benign Het
Lipk T A 19: 34,046,879 L354Q probably damaging Het
Luzp2 T A 7: 55,211,798 L225* probably null Het
Mknk1 C T 4: 115,860,091 Q58* probably null Het
Mut A T 17: 40,938,619 I162F probably damaging Het
Nol11 T A 11: 107,173,373 M518L probably benign Het
Nubpl T C 12: 52,310,694 probably benign Het
Nup35 T A 2: 80,644,219 S93R possibly damaging Het
Olfr330 T C 11: 58,529,990 probably benign Het
Olfr992 T A 2: 85,400,303 I77F probably damaging Het
Pex3 T C 10: 13,535,600 E178G possibly damaging Het
Sipa1l2 A G 8: 125,451,977 S1128P probably damaging Het
Terb2 T C 2: 122,204,808 probably benign Het
Trim72 A G 7: 128,004,770 Y96C probably damaging Het
Tyk2 T C 9: 21,111,043 D830G possibly damaging Het
Uri1 A G 7: 37,965,491 S259P probably benign Het
Usp38 A T 8: 80,985,558 L616H probably damaging Het
Uspl1 T A 5: 149,188,459 C73S probably damaging Het
Wdr7 C A 18: 63,796,235 D1047E probably benign Het
Other mutations in Rad23b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01301:Rad23b APN 4 55366774 splice site probably benign
IGL01326:Rad23b APN 4 55383601 missense possibly damaging 0.95
IGL02398:Rad23b APN 4 55350360 utr 5 prime probably benign
IGL02506:Rad23b APN 4 55382511 missense probably benign 0.01
Saguaro UTSW 4 55370474 critical splice donor site probably null
R0278:Rad23b UTSW 4 55383575 splice site probably null
R1846:Rad23b UTSW 4 55383637 nonsense probably null
R2198:Rad23b UTSW 4 55385497 missense possibly damaging 0.68
R2425:Rad23b UTSW 4 55385438 missense probably damaging 0.99
R3774:Rad23b UTSW 4 55382589 missense possibly damaging 0.95
R3781:Rad23b UTSW 4 55382586 missense probably damaging 1.00
R4197:Rad23b UTSW 4 55385455 missense probably damaging 0.98
R5911:Rad23b UTSW 4 55370474 critical splice donor site probably null
R6056:Rad23b UTSW 4 55382540 missense probably benign 0.01
R6067:Rad23b UTSW 4 55370400 missense probably damaging 0.97
R6078:Rad23b UTSW 4 55370400 missense probably damaging 0.97
R6079:Rad23b UTSW 4 55370400 missense probably damaging 0.97
R7426:Rad23b UTSW 4 55370469 missense probably benign 0.00
U15987:Rad23b UTSW 4 55370400 missense probably damaging 0.97
Posted On2015-04-16