|Institutional Source||Beutler Lab|
|Gene Name||VPS33A CORVET/HOPS core subunit|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8139 (G1)|
|Chromosomal Location||123528659-123573038 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 123533952 bp|
|Amino Acid Change||Lysine to Arginine at position 451 (K451R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031388 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031388]|
|Predicted Effect||probably benign
AA Change: K451R
PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
AA Change: K451R
|Coding Region Coverage||
|Validation Efficiency||100% (84/84)|
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 it encodes a protein similar to the yeast class C Vps33 protein. The mammalian class C VPS proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene produce hypopigmentation, an extended bleeeding time and abnormal kidney function. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vps33a||
(F):5'- ACACACATGCACTGCTTTGC -3'
(R):5'- CAAGAGTCTCAGCGTGAGTG -3'
(F):5'- GGAACCAACTCCTGCAGGTTTC -3'
(R):5'- GCACTCTCCACTCTCAGGG -3'