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|Institutional Source||Beutler Lab|
|Gene Name||ubiquitin specific peptidase 25|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4408 (G1)|
|Chromosomal Location||77013706-77116780 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 77115453 bp|
|Amino Acid Change||Lysine to Threonine at position 1020 (K1020T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023580 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023580]|
|PDB Structure||Solution Structure of RSGI RUH-013, a UBA domain in Mouse cDNA [SOLUTION NMR]|
|Predicted Effect||probably damaging
AA Change: K1020T
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: K1020T
|Meta Mutation Damage Score||0.1050|
|Coding Region Coverage||
|Validation Efficiency||97% (35/36)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin (MIM 191339) is a highly conserved 76-amino acid protein involved in regulation of intracellular protein breakdown, cell cycle regulation, and stress response. Ubiquitin is released from degraded proteins by disassembly of the polyubiquitin chains, which is mediated by ubiquitin-specific proteases (USPs), such as USP25 (Valero et al., 1999 [PubMed 10644437]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit increased severity of IL17-induced pulmonary inflammation and MOG-induced experimental autoimmune encephalomyelitis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Usp25||
(F):5'- CAAGTGCACATTTCCGTTGCC -3'
(R):5'- TGGCTAAGGTCGGCATAGTC -3'
(F):5'- GCACATTTCCGTTGCCATGTATG -3'
(R):5'- GTTAAAAACTCTAGCAGCAGCAAG -3'