|Institutional Source||Beutler Lab|
|Gene Name||USO1 vesicle docking factor|
|Synonyms||Vdp, TAP, transcytosis associated protein p115|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R5665 (G1)|
|Chromosomal Location||92137938-92202798 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 92198337 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Valine at position 793 (E793V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031355 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031355] [ENSMUST00000201642] [ENSMUST00000202155]|
AA Change: E793V
PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: E793V
|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 peripheral membrane protein which recycles between the cytosol and the Golgi apparatus during interphase. It is regulated by phosphorylation: dephosphorylated protein associates with the Golgi membrane and dissociates from the membrane upon phosphorylation. Ras-associated protein 1 recruits this protein to coat protein complex II (COPII) vesicles during budding from the endoplasmic reticulum, where it interacts with a set of COPII vesicle-associated SNAREs to form a cis-SNARE complex that promotes targeting to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality between E3.5 and E8.5 with disruption of Golgi apparatus in blastocyst cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Uso1||
(F):5'- TCTCAGGAAGCAATAGGGATGC -3'
(R):5'- GAAACGGGATGTTACGCCAG -3'
(F):5'- GCAATAGGGATGCATATATAGGTTTC -3'
(R):5'- GGATGTTACGCCAGTGAATTAACC -3'