|Institutional Source||Beutler Lab|
|Gene Name||SEC14-like lipid binding 3|
|Is this an essential gene?||Probably non essential (E-score: 0.162)|
|Stock #||R7845 (G1)|
|Chromosomal Location||4064841-4077736 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 4067972 bp|
|Amino Acid Change||Methionine to Lysine at position 84 (M84K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065084 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000068322]|
|Predicted Effect||probably benign
AA Change: M84K
PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: M84K
|Coding Region Coverage||
|Validation Efficiency||96% (43/45)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the protein encoded by the Saccharomyces cerevisiae SEC14 gene. The SEC14 protein is a phophatidylinositol transfer protein that is essential for biogenesis of Golgi-derived transport vesicles, and thus is required for the export of yeast secretory proteins from the Golgi complex. The specific function of this protein has not yet been determined. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sec14l3||
(F):5'- GACCAATATGCCCTGAAGCCTG -3'
(R):5'- TCTGTCTGCAGGTCACACTC -3'
(F):5'- TGTATTCACAGCTGTAAACAAGGCC -3'
(R):5'- TCATGCAGGATACGTTCACAGTC -3'