|Institutional Source||Beutler Lab|
|Gene Name||vacuolar protein sorting 33B|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R9165 (G1)|
|Chromosomal Location||80269649-80291754 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (1 bp from exon)|
|DNA Base Change (assembly)||G to A at 80274686 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000032749 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032749] [ENSMUST00000135053] [ENSMUST00000150585]|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a conditional allele activated by an inducible cre exhibit dry scaly skin, hair loss, thrombocytosis, abnormal alpha-granule development, extramedullary hematopoiesis, abnormal platelets and megakaryocytes, and defects in tail tendon collagen I structure. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vps33b||
(F):5'- AAGACAGTCAGCTCACCTGG -3'
(R):5'- GCAGACTAACAATCTGAGTGCC -3'
(F):5'- ATTTTAGTGGGATGAGAACAGACTG -3'
(R):5'- GTGCCATATTATTTAACAACCAGTGC -3'