|Institutional Source||Beutler Lab|
|Gene Name||sorting nexin 6|
|Synonyms||2810425K19Rik, 2010006G21Rik, 2610032J07Rik|
|Is this an essential gene?||Probably essential (E-score: 0.756)|
|Stock #||R6287 (G1)|
|Chromosomal Location||54746349-54795703 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 54747028 bp|
|Amino Acid Change||Alanine to Glutamic Acid at position 284 (A284E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000151488 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005798] [ENSMUST00000218934]|
|Predicted Effect||probably benign
AA Change: A400E
PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: A400E
|Predicted Effect||possibly damaging
AA Change: A284E
PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
|Coding Region Coverage||
|Validation Efficiency||94% (34/36)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein associates with the long isoform of the leptin receptor, the transforming growth factor-beta family of receptor serine-threonine kinases, and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor. This protein may form oligomeric complexes with family member proteins through interactions of both the PX domain and the coiled coil regions of the molecules. Translocation of this protein from the cytoplasm to the nucleus occurs after binding to proviral integration site 1 protein. This gene results in two transcripts encoding two distinct isoforms. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Snx6||
(F):5'- TGCTCCACTGTCTCTCAGAAG -3'
(R):5'- ATAGAGATGTTTCCAGAATTGTGAC -3'
(F):5'- CACTGTCTCTCAGAAGAAGAGCTG -3'
(R):5'- TGTTTCCAGAATTGTGACATTAGAG -3'