|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 7 (cationic amino acid transporter, y+ system), member 14|
|Is this an essential gene?||Probably non essential (E-score: 0.233)|
|Stock #||R8903 (G1)|
|Chromosomal Location||31202858-31310378 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 31223446 bp (GRCm38)|
|Amino Acid Change||Leucine to Glutamine at position 670 (L670Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000103880 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000091259] [ENSMUST00000108245]|
AA Change: L670Q
PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: L670Q
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal eye electrophysiology, thin retinal outer nuclear and decreased total retinal thickness. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc7a14||
(F):5'- ATTCTCACACAAGAAGAGCTTTCAG -3'
(R):5'- TGTAATCCTGCAGCAGCCAG -3'
(F):5'- AATGGATTGATAGGCATCGTTCTTCC -3'
(R):5'- TGCAGCAGCCAGAGAAC -3'