|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 6 (neurotransmitter transporter, taurine), member 6|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2656 (G1)|
|Chromosomal Location||91684053-91759066 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 91741048 bp|
|Amino Acid Change||Tyrosine to Histidine at position 323 (Y323H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032185 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032185]|
|Predicted Effect||probably damaging
AA Change: Y323H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y323H
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous mutant mice have impaired vision associated with retinal degeneration. In addition to the visual defects, mutant mice exhibit reduced female fertility and decreased levels of taurine in a variety of tissues. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc6a6||
(F):5'- TCTGGGGTTCTAGATCTGCC -3'
(R):5'- CACAAAACTGGTACCACTGTTCAG -3'
(F):5'- AGATCTGCCTCTGGGGTTCC -3'
(R):5'- AACTGGTACCACTGTTCAGGCATC -3'