|Institutional Source||Beutler Lab|
|Gene Name||solute carrier family 1 (glial high affinity glutamate transporter), member 3|
|Synonyms||GLAST, MGluT1, Gmt1, B430115D02Rik, Eaat1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8041 (G1)|
|Chromosomal Location||8634124-8710764 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 8636199 bp|
|Amino Acid Change||Proline to Leucine at position 522 (P522L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000005493 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005493]|
|Predicted Effect||probably benign
AA Change: P522L
PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: P522L
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display no abnormalities with respect to appearance or survival but do display functional abnormalities related to the central nervous system. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Slc1a3||
(F):5'- TCCAATCCTATCAGAGTAGGGAGG -3'
(R):5'- AGCCAACTCACGATAGGTGC -3'
(F):5'- TCCTATCAGAGTAGGGAGGAAAGAG -3'
(R):5'- ACTCACGATAGGTGCTGGGATC -3'