|Institutional Source||Beutler Lab|
|Gene Name||vacuolar protein sorting 45|
|Is this an essential gene?||Probably essential (E-score: 0.929)|
|Stock #||R5180 (G1)|
|Chromosomal Location||95999832-96058466 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 96046371 bp|
|Amino Acid Change||Isoleucine to Threonine at position 223 (I223T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015891 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015891]|
|Predicted Effect||possibly damaging
AA Change: I223T
PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: I223T
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3596|
|Coding Region Coverage||
|Validation Efficiency||97% (60/62)|
|MGI Phenotype||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 is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vps45||
(F):5'- AGCTGCCTTGATGACAGAGG -3'
(R):5'- TTTTACAGGAGGCCCATGC -3'
(F):5'- CTGCCTTGATGACAGAGGGACAG -3'
(R):5'- CCATGCGGGAGGGAAAACTG -3'