Incidental Mutation 'IGL00551:Usp26'
ID 5647
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp26
Ensembl Gene ENSMUSG00000055780
Gene Name ubiquitin specific peptidase 26
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL00551
Quality Score
Status
Chromosome X
Chromosomal Location 50842836-50890110 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50846182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 31 (V31A)
Ref Sequence ENSEMBL: ENSMUSP00000110519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069509] [ENSMUST00000114869]
AlphaFold Q99MX1
Predicted Effect probably benign
Transcript: ENSMUST00000069509
AA Change: V31A

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000069140
Gene: ENSMUSG00000055780
AA Change: V31A

DomainStartEndE-ValueType
PDB:3U12|B 6 122 1e-11 PDB
Pfam:UCH 285 813 3.2e-46 PFAM
Pfam:UCH_1 286 554 4.6e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114869
AA Change: V31A

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110519
Gene: ENSMUSG00000055780
AA Change: V31A

DomainStartEndE-ValueType
Pfam:UCH_N 1 104 8.5e-42 PFAM
Pfam:UCH 285 813 9.7e-45 PFAM
Pfam:UCH_1 286 552 7.5e-12 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases and is a deubiquitinating enzyme (DUB) with His and Cys domains. It is specifically expressed in testis tissue. Mutations in this gene have been associated with Sertoli cell-only syndrome and male infertility. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b C T 7: 101,229,776 (GRCm39) C41Y probably damaging Het
Btk A G X: 133,474,683 (GRCm39) Y42H probably damaging Het
Cacna1e T C 1: 154,279,429 (GRCm39) D1720G probably damaging Het
Ccr5 T C 9: 123,924,625 (GRCm39) I76T probably damaging Het
Chd3 A G 11: 69,237,455 (GRCm39) V1913A probably damaging Het
Dmxl2 A G 9: 54,358,122 (GRCm39) Y526H probably damaging Het
Dnah8 A T 17: 30,882,452 (GRCm39) K675* probably null Het
Eif2b1 A G 5: 124,714,932 (GRCm39) F115L probably damaging Het
Erlin1 T C 19: 44,047,585 (GRCm39) D112G probably damaging Het
Fabp12 A G 3: 10,311,115 (GRCm39) probably benign Het
Fam47c A G X: 77,782,060 (GRCm39) E214G probably damaging Het
Fkbp5 G T 17: 28,620,020 (GRCm39) probably benign Het
H1f2 C A 13: 23,922,828 (GRCm39) probably benign Het
Kidins220 G T 12: 25,088,559 (GRCm39) probably benign Het
Limd2 T C 11: 106,050,031 (GRCm39) E15G probably benign Het
Mga T A 2: 119,750,295 (GRCm39) C696S possibly damaging Het
Naa16 A G 14: 79,593,169 (GRCm39) F468L probably damaging Het
Ndufaf1 A G 2: 119,490,950 (GRCm39) S37P probably damaging Het
Phrf1 A G 7: 140,838,790 (GRCm39) probably benign Het
Prr14 A G 7: 127,073,819 (GRCm39) T228A probably benign Het
Rfc1 A T 5: 65,453,352 (GRCm39) F265L probably benign Het
Selenos A G 7: 65,736,942 (GRCm39) E137G probably benign Het
Tars1 T C 15: 11,388,307 (GRCm39) probably null Het
Tpcn1 A G 5: 120,698,390 (GRCm39) I44T probably benign Het
Other mutations in Usp26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03057:Usp26 APN X 50,846,135 (GRCm39) missense possibly damaging 0.51
Posted On 2012-04-20