|Institutional Source||Beutler Lab|
|Gene Name||vacuolar protein sorting 4B|
|Is this an essential gene?||Possibly non essential (E-score: 0.275)|
|Stock #||R5044 (G1)|
|Chromosomal Location||106764071-106796728 bp(-) (GRCm38)|
|Type of Mutation||splice site (3 bp from exon)|
|DNA Base Change (assembly)||T to C at 106796418 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000108356 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000094646] [ENSMUST00000112736]|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||96% (73/76)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 18; the gene for the other resides on chromosome 16. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vps4b||
(F):5'- GCCCAAACTCCGCTGTTTTG -3'
(R):5'- AGTTCCTGCTGGATTTACGGC -3'
(F):5'- CACAGACCTTGAGGCTGAG -3'
(R):5'- CTGGATTTACGGCTCCGGAG -3'