|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 6 (neurotransmitter transporter, GABA), member 11|
|Synonyms||Gabt4, E130202I16Rik, Gat3, D930045G19Rik, GAT4|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6150 (G1)|
|Chromosomal Location||114131241-114249952 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 114245618 bp|
|Amino Acid Change||Phenylalanine to Isoleucine at position 525 (F525I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032451 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032451]|
|Predicted Effect||probably benign
AA Change: F525I
PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: F525I
|Coding Region Coverage||
|Validation Efficiency||97% (56/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a targeted mutation display postnatal lethality. Mice heterozygous for a targeted mutation display resistance to pharmacologically induced seizures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc6a11||
(F):5'- CCTAAGGCAAACTCCTGAGTG -3'
(R):5'- GAGCCTTCCTCCATCAACTG -3'
(F):5'- CAAACTCCTGAGTGGGCAG -3'
(R):5'- ATCAACTGCTCACCTCGGG -3'