|Institutional Source||Beutler Lab|
|Gene Name||sorting nexin 9|
|Is this an essential gene?||Probably essential (E-score: 0.751)|
|Stock #||R1421 (G1)|
|Chromosomal Location||5841329-5931954 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 5902484 bp|
|Amino Acid Change||Glycine to Aspartic acid at position 197 (G197D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002436 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002436]|
|Predicted Effect||probably benign
AA Change: G197D
PolyPhen 2 Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: G197D
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||96% (54/56)|
|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 phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein does not contain a coiled coil region, like some family members, but does contain a SRC homology domain near its N-terminus. The encoded protein is reported to have a variety of interaction partners, including of adaptor protein 2 , dynamin, tyrosine kinase non-receptor 2, Wiskott-Aldrich syndrome-like, and ARP3 actin-related protein 3. The encoded protein is implicated in several stages of intracellular trafficking, including endocytosis, macropinocytosis, and F-actin nucleation. [provided by RefSeq, Jul 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Snx9||
(F):5'- CCTTAATGCCGACTGCAAAGCCTG -3'
(R):5'- TTCTTACATTGCACGCACGCAC -3'
(F):5'- TGCAAAGCCTGTGCTCTAAAG -3'
(R):5'- cgcacgcacgctcatac -3'