|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 32 (GABA vesicular transporter), member 1|
|Synonyms||Viaat, R75019, VGAT|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8194 (G1)|
|Chromosomal Location||158610767-158615748 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 158613841 bp|
|Amino Acid Change||Tyrosine to Histidine at position 139 (Y139H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036299 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045738]|
|Predicted Effect||probably damaging
AA Change: Y139H
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: Y139H
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice been independently reported to die perinatally exhibiting a hunched posture, respiratory failure, cleft secondary palate due to failure of palate shelf elevation, umbilical hernia or omphalocele, and loss of neurotransmitter release in both GABAergic and glycinergic neurons. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc32a1||
(F):5'- TCTTTCACGAGGATTCACCC -3'
(R):5'- TGATCTGCGCCACATTGACC -3'
(F):5'- CGAGGATTCACCCCCATTC -3'
(R):5'- GCCACATTGACCACGCG -3'