|Institutional Source||Beutler Lab|
|Gene Name||sorting nexin 1|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1495 (G1)|
|Chromosomal Location||66088133-66126587 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 66096597 bp (GRCm38)|
|Amino Acid Change||Leucine to Phenylalanine at position 255 (L255F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034946 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034946] [ENSMUST00000137542]|
|AlphaFold||no structure available at present|
AA Change: L255F
PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: L255F
|Coding Region Coverage||
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 endosomal protein regulates the cell-surface expression of epidermal growth factor receptor. This protein also has a role in sorting protease-activated receptor-1 from early endosomes to lysosomes. This protein may form oligomeric complexes with family members. This gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable and fertile and do not exhibit any apparent abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Snx1||
(F):5'- TGGGGTCACGCAAACTCACTG -3'
(R):5'- CCCACTGAACGTCATATTTCCTTCTTGA -3'
(F):5'- CACTGGCTACAGCATTTGAG -3'
(R):5'- acccctttaatcccagcac -3'