|Institutional Source||Beutler Lab|
|Gene Name||sorting nexin 4|
|Is this an essential gene?||Probably non essential (E-score: 0.157)|
|Stock #||R1613 (G1)|
|Chromosomal Location||33251442-33300269 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 33286046 bp|
|Amino Acid Change||Methionine to Arginine at position 283 (M283R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023502 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023502] [ENSMUST00000231389]|
|Predicted Effect||probably damaging
AA Change: M283R
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: M283R
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6671|
|Coding Region Coverage||
|Validation Efficiency||82% (69/84)|
|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 associated with the long isoform of the leptin receptor and with receptor tyrosine kinases for platelet-derived growth factor, insulin, and epidermal growth factor in cell cultures, but its function is unknown. This protein may form oligomeric complexes with family members. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Nov 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Snx4||
(F):5'- ACCAATGGACTTGCATCACAGACAG -3'
(R):5'- AAGGACTCAGCCAGTTTTCCCTGC -3'
(F):5'- GGACTTGCATCACAGACAGTAAATC -3'
(R):5'- cttctgtcactacatgaattagacc -3'