|Institutional Source||Beutler Lab|
|Gene Name||VPS41 HOPS complex subunit|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7022 (G1)|
|Chromosomal Location||18717286-18866811 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 18842268 bp|
|Amino Acid Change||Threonine to Lysine at position 512 (T512K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000072729 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000072961]|
|Predicted Effect||possibly damaging
AA Change: T512K
PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: T512K
|Coding Region Coverage||
|Validation Efficiency||100% (75/75)|
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 ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele die by E9 exhibiting morphological and functional alteration of late endocytic compartments, and abnormal triploblastic development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vps41||
(F):5'- CTTTAATGGCCTGCACTGGG -3'
(R):5'- ACACCATTCCTCTGGCAGAC -3'
(F):5'- GCAGATTGAAACCCAGCTGTG -3'
(R):5'- TGGCAGACAGATCTCACTATAATGC -3'