|Institutional Source||Beutler Lab|
|Gene Name||vacuolar protein sorting 13D|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7339 (G1)|
|Chromosomal Location||144972622-145195005 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 145121368 bp|
|Amino Acid Change||Valine to Isoleucine at position 2478 (V2478I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043240 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020441] [ENSMUST00000036579]|
|Predicted Effect||probably benign
AA Change: V2472I
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: V2472I
AA Change: V2478I
|Predicted Effect||probably damaging
AA Change: V1299I
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|Meta Mutation Damage Score||0.0869|
|Coding Region Coverage||
|Validation Efficiency||100% (61/61)|
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'- GATGCTTGTCTCTGGAACCC -3'
(R):5'- GTCAGAGAGGAGCTAATTCTGATCC -3'
(F):5'- ACCCGACATGTAATGCTGTG -3'
(R):5'- AGGAGCTAATTCTGATCCTCTCTG -3'