|Institutional Source||Beutler Lab|
|Gene Name||ubiquitin carboxy-terminal hydrolase L1|
|Synonyms||PGP 9.5, PGP9.5|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6990 (G1)|
|Chromosomal Location||66676091-66687234 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 66682475 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 120 (E120G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031131 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031131]|
|Predicted Effect||possibly damaging
AA Change: E120G
PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: E120G
|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 belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for one allele show ataxia beginning at 80 days of age, followed by progressive tremors, impaired locomotion, atrophy of hind limb muscles, and death by 5-6 months. Mice homozygous for a second allele exhibit defects in motor coordinationand decreases in thermal pain sensation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Uchl1||
(F):5'- TGATTTCAGCAGCAGGGAG -3'
(R):5'- GTATTTACCCGACACTGGCC -3'
(F):5'- AGCCGTTGGGAAGCTAGC -3'
(R):5'- CGACACTGGCCCTCCTG -3'