|Institutional Source||Beutler Lab|
|Gene Name||ubiquitin specific peptidase 15|
|Synonyms||Gcap18, 4921514G19Rik, E430033I05Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5387 (G1)|
|Chromosomal Location||123105006-123196995 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 123131286 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Threonine at position 405 (I405T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000151244 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020334] [ENSMUST00000220377]|
AA Change: I376T
PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
AA Change: I376T
AA Change: I405T
PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|Meta Mutation Damage Score||0.2307|
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
FUNCTION: The protein encoded by this gene is a member of the large ubiquitin specific protease (Usp) family of proteins. These proteins are known to cleave ubiquitin, and contain a conserved cysteine residue (Cys box) and two conserved histidine residues (His box) that are thought to form part of the active site of the protease. This protein has been shown to cleave both the ubiquitin-proline and the ubiquitin-methionine bonds in vitro. This protein is thought to regulate many cellular processes through its deubiquitination activity, including the transforming growth factor beta (TGF-beta) pathway. Cardiac-specific overexpression of the human ortholog of this gene in mice causes enlargement of the heart that is more pronounced in the atrium than in the ventricle. This gene has two pseudogenes on chromosome 14. Alternative splicing results in multiple transcript variants that encode multiple protein isoforms.[provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a knock-out allele or ENU induced allele exhibit resistance to pathological neuroinflammation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Usp15||
(F):5'- CGTAGACTTGAAAAGGCCATGG -3'
(R):5'- TAAACTGAGAGCAAGCATGTGC -3'
(F):5'- GCCATGGAATATGTCTACTATGATGG -3'
(R):5'- CATGTGCTTTTTCAGGAGCC -3'