|Institutional Source||Beutler Lab|
|Gene Name||ubiquitin specific peptidase 8|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2127 (G1)|
|Chromosomal Location||126707328-126759297 bp(+) (GRCm38)|
|Type of Mutation||splice site (20 bp from exon)|
|DNA Base Change (assembly)||T to G at 126737575 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000106046 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028841] [ENSMUST00000110416] [ENSMUST00000136319]|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||98% (93/95)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Embryos homozygous for a knock-out allele appear severely growth retarded and disorganized at E9.5 and die in utero due to ventral-folding defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Usp8||
(F):5'- TTTGCTGTCAAGAGACTGTCC -3'
(R):5'- AAGGGCAATCACCACTGTC -3'
(F):5'- GTCAAGAGACTGTCCCGTCTTAAAG -3'
(R):5'- GGGCAATCACCACTGTCTTAAAG -3'