Incidental Mutation 'IGL03350:Rad23a'
ID419687
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rad23a
Ensembl Gene ENSMUSG00000003813
Gene NameRAD23 homolog A, nucleotide excision repair protein
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.267) question?
Stock #IGL03350
Quality Score
Status
Chromosome8
Chromosomal Location84834019-84840665 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84837479 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 265 (E265G)
Ref Sequence ENSEMBL: ENSMUSP00000115664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003911] [ENSMUST00000003912] [ENSMUST00000036734] [ENSMUST00000109761] [ENSMUST00000128035]
Predicted Effect probably benign
Transcript: ENSMUST00000003911
AA Change: E264G

PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000003911
Gene: ENSMUSG00000003813
AA Change: E264G

DomainStartEndE-ValueType
UBQ 3 77 3.28e-23 SMART
low complexity region 123 151 N/A INTRINSIC
UBA 163 200 8.76e-11 SMART
STI1 229 272 5.7e-8 SMART
low complexity region 296 307 N/A INTRINSIC
UBA 319 356 9.11e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000003912
SMART Domains Protein: ENSMUSP00000003912
Gene: ENSMUSG00000003814

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Calreticulin 23 258 2.7e-64 PFAM
Pfam:Calreticulin 257 332 3.3e-24 PFAM
low complexity region 358 407 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000036734
SMART Domains Protein: ENSMUSP00000037783
Gene: ENSMUSG00000033751

DomainStartEndE-ValueType
Pfam:CR6_interact 1 211 1.5e-79 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109761
AA Change: E265G

PolyPhen 2 Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105383
Gene: ENSMUSG00000003813
AA Change: E265G

DomainStartEndE-ValueType
UBQ 3 77 3.28e-23 SMART
low complexity region 123 151 N/A INTRINSIC
UBA 163 200 8.76e-11 SMART
STI1 230 273 5.7e-8 SMART
low complexity region 297 308 N/A INTRINSIC
UBA 320 357 9.11e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125711
Predicted Effect possibly damaging
Transcript: ENSMUST00000128035
AA Change: E265G

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115664
Gene: ENSMUSG00000003813
AA Change: E265G

DomainStartEndE-ValueType
UBQ 3 77 3.28e-23 SMART
low complexity region 123 151 N/A INTRINSIC
UBA 163 200 8.76e-11 SMART
STI1 230 273 5.7e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134395
Predicted Effect unknown
Transcript: ENSMUST00000144675
AA Change: E78G
SMART Domains Protein: ENSMUSP00000114431
Gene: ENSMUSG00000003813
AA Change: E78G

DomainStartEndE-ValueType
SCOP:d1ifya_ 2 18 3e-3 SMART
STI1 44 87 5.7e-8 SMART
low complexity region 111 122 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144994
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 nucleotide excision repair. Proteins in this family have a modular domain structure consisting of an ubiquitin-like domain (UbL), ubiquitin-associated domain 1 (UbA1), XPC-binding domain and UbA2. The protein encoded by this gene plays an important role in nucleotide excision repair and also in delivery of polyubiquitinated proteins to the proteasome. Alternative splicing results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Jun 2012]
PHENOTYPE: Mice with a targeted disruption of this gene show no obvious phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4922502D21Rik C A 6: 129,331,023 V28L probably benign Het
Adam26a A T 8: 43,569,552 Y300* probably null Het
Adgre1 T A 17: 57,401,908 V33E probably benign Het
AI987944 A G 7: 41,393,237 probably benign Het
Atp4a T C 7: 30,720,867 L813P probably damaging Het
Blmh A G 11: 76,971,948 N396D probably damaging Het
Brat1 T C 5: 140,705,995 L9P probably damaging Het
Ccdc171 T C 4: 83,681,378 I810T possibly damaging Het
Cyp2a22 T C 7: 26,934,854 T292A possibly damaging Het
Ecm2 C T 13: 49,520,944 T280I probably benign Het
Fa2h C T 8: 111,349,296 V232I probably benign Het
Fbxw24 T C 9: 109,607,013 D317G probably damaging Het
Flt4 C A 11: 49,634,793 S722* probably null Het
Fryl T C 5: 73,133,306 Q85R probably damaging Het
Gm3239 A G 14: 4,667,115 R188G possibly damaging Het
Hspa13 A T 16: 75,757,829 S456R probably damaging Het
Htr1b T C 9: 81,632,122 Y144C probably damaging Het
Hydin A G 8: 110,312,224 H198R possibly damaging Het
Krt78 A T 15: 101,946,517 M953K probably benign Het
Lgr5 G T 10: 115,471,988 T255K probably damaging Het
Lrp2 T A 2: 69,438,453 D4162V probably damaging Het
Map3k2 A G 18: 32,212,148 D342G probably damaging Het
Miip A G 4: 147,862,522 V258A probably benign Het
Muc6 T C 7: 141,652,059 H52R probably damaging Het
Nfs1 T C 2: 156,127,740 E329G probably benign Het
Npsr1 T C 9: 24,098,309 V37A probably benign Het
Olfr1107 A C 2: 87,071,560 D191E probably damaging Het
Olfr23 A T 11: 73,940,838 L197F probably damaging Het
Olfr356 T C 2: 36,937,583 Y155H probably damaging Het
Pex16 T A 2: 92,377,497 M98K probably damaging Het
Pla2r1 C T 2: 60,455,173 C699Y probably damaging Het
Plcd4 A T 1: 74,549,301 D103V probably damaging Het
Pnpla1 A G 17: 28,876,992 D129G probably damaging Het
Rbm11 C T 16: 75,600,808 P209S probably benign Het
Ribc2 T A 15: 85,135,502 W162R probably damaging Het
Rnf4 A G 5: 34,346,860 E32G possibly damaging Het
Rpe65 A T 3: 159,614,517 S269C possibly damaging Het
Slc7a14 T A 3: 31,237,409 Y240F probably benign Het
Sorbs2 C T 8: 45,805,807 P1047L probably damaging Het
Ttn T C 2: 76,749,822 I23576V probably damaging Het
Usp24 T G 4: 106,371,079 Y780* probably null Het
Wee2 T C 6: 40,449,731 S145P probably damaging Het
Zcchc7 A G 4: 44,931,188 T126A probably benign Het
Zpld1 A G 16: 55,241,329 probably benign Het
Zufsp G A 10: 33,928,111 R456C probably benign Het
Other mutations in Rad23a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Rad23a APN 8 84835895 missense probably damaging 1.00
IGL01974:Rad23a APN 8 84838939 missense probably damaging 1.00
R3620:Rad23a UTSW 8 84840564 start codon destroyed probably null 1.00
R5967:Rad23a UTSW 8 84838939 missense probably damaging 1.00
R6281:Rad23a UTSW 8 84838110 missense probably damaging 1.00
R7577:Rad23a UTSW 8 84838479 missense probably benign
X0028:Rad23a UTSW 8 84838886 missense probably damaging 1.00
Posted On2016-08-02