|Institutional Source||Beutler Lab|
|Gene Name||sorting nexin 9|
|Is this an essential gene?||Possibly essential (E-score: 0.665)|
|Stock #||R5038 (G1)|
|Chromosomal Location||5841329-5931954 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 5887073 bp|
|Amino Acid Change||Valine to Alanine at position 30 (V30A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002436 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002436]|
|Predicted Effect||probably benign
AA Change: V30A
PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: V30A
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1032|
|Coding Region Coverage||
|Validation Efficiency||94% (64/68)|
|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'- GAGCTAGGTGTCCTGAACTGTC -3'
(R):5'- ATGCAGGGGCTGAACTTCTC -3'
(F):5'- GCACTGTCAGGTTCACACAGTTG -3'
(R):5'- AACTTCTCTAGGTGTGCATGTGACAG -3'