|Institutional Source||Beutler Lab|
|Gene Name||vacuolar protein sorting 13D|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7246 (G1)|
|Chromosomal Location||144972622-145195005 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 145156050 bp|
|Amino Acid Change||Arginine to Lysine at position 991 (R991K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043240 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020441] [ENSMUST00000036579]|
|Predicted Effect||probably damaging
AA Change: R985K
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R985K
AA Change: R991K
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0880|
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vps13d||
(F):5'- TCGTTGAGGGTGGTCACATC -3'
(R):5'- GAAGCTTGCAGGATTCAGTAATG -3'
(F):5'- TCACATCAGTTTGGAAGGCC -3'
(R):5'- GCAGGATTCAGTAATGAACTTGACCC -3'