|Institutional Source||Beutler Lab|
|Gene Name||vacuolar protein sorting 37A|
|Synonyms||D8Ertd531e, 4930592A21Rik, 2210018P21Rik|
|Is this an essential gene?||Possibly non essential (E-score: 0.470)|
|Stock #||R6337 (G1)|
|Chromosomal Location||40511783-40551134 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 40540708 bp|
|Amino Acid Change||Glutamine to Leucine at position 248 (Q248L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096415 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000098817]|
|Predicted Effect||probably benign
AA Change: Q248L
PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: Q248L
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the VPS37 family, and encodes a component of the ESCRT-I (endosomal sorting complex required for transport I) protein complex, required for the sorting of ubiquitinated transmembrane proteins into internal vesicles of multivesicular bodies. Expression of this gene is downregulated in hepatocellular carcinoma, and mutations in this gene are associated with autosomal recessive spastic paraplegia-53. A related pseudogene has been identified on chromosome 5. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Vps37a||
(F):5'- TGACTCAGGCTTGCTCTCTG -3'
(R):5'- CTTCCAAGCTATGTTCCAAAAGG -3'
(F):5'- TGCGGCCTACTCTACAAAGG -3'
(R):5'- TTTTTCCTGGAAGATAAATCTCTGC -3'