|Institutional Source||Beutler Lab|
|Gene Name||VPS18 CORVET/HOPS core subunit|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5857 (G1)|
|Chromosomal Location||119288740-119298453 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 119297533 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Histidine at position 946 (Y946H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036915 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000037280]|
AA Change: Y946H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y946H
|Meta Mutation Damage Score||0.6277|
|Coding Region Coverage||
|Validation Efficiency||95% (55/58)|
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 encodes the human homolog of yeast class C Vps18 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: Mice homozygous for a reporter allele exhibit preweaning lethality. Mice homozygous for a conditional allele activated in the nervous system exhibit impaired neuron migration and neurodegeneration associated with increased apoptosis and impaired autophagy and endocytosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vps18||
(F):5'- TACAAGCAGGCCAGACTTG -3'
(R):5'- TGAAAACCTCCCGGCTGAAG -3'
(F):5'- CCAGACTTGAGGAACTGCAGC -3'
(R):5'- AAGCTTGGCTGCAACCC -3'