|Institutional Source||Beutler Lab|
|Gene Name||ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)|
|Is this an essential gene?||Probably non essential (E-score: 0.118)|
|Stock #||R5186 (G1)|
|Chromosomal Location||101653967-101696125 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 101695917 bp (GRCm38)|
|Amino Acid Change||Cysteine to Serine at position 209 (C209S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002289 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002289]|
AA Change: C209S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: C209S
AA Change: C243S
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into five classes, depending on the mechanism of catalysis. This protein may hydrolyze the ubiquitinyl-N-epsilon amide bond of ubiquitinated proteins to regenerate ubiquitin for another catalytic cycle. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous null animals show degeneration in dorsal root ganglia. Mice display postnatal progressive retinal degeneration and muscular degeneration. In combination with a knockout of ubiquitin C-terminal hydrolase L1, neurological effects of each are accelerated, mice are dysphagic and die younger. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Uchl3||
(F):5'- GGGAAATTACTTGCCTGGCTAC -3'
(R):5'- CAGCCAGAGAAATCTACTGGGG -3'
(F):5'- TGGCTACAGAGAGAGTTTATCAACC -3'
(R):5'- ACAGGTAGAGTCAAAGTTTATTCAC -3'