Slc1a1 - SNV Details



 Gene Information 
Gene Name Slc1a1
Old Gene Names for Slc1a1 D130048g10rik
Gene Description solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 [Source:MGI Symbol;Acc:MGI:105083]
MGI phenotype Mice homozygous for disruptions in this gene display reduced locomotor activity and excessive excretion of glutamate and aspartate.
Uniprot Name
CCDS Name
Gene GO
dicarboxylic acid transport; glutamate binding; membrane; L-glutamate transport; protein binding; integral component of membrane; sodium:dicarboxylate symporter activity; L-glutamate import; extracellular vesicular exosome; glutamate:sodium symporter activity; L-glutamate transmembrane transporter activity; protein homooligomerization; transmembrane transport; plasma membrane; D-aspartate import
Homolog in other species SLC1A1
Omim http://omim.org/entry/133550
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN CEREBELLUM, OLFACTORYBULB, DORSALROOTGANGLION, HIPPOCAMPUS, AMYGDALA, FRONTALCORTEX, CEREBRALCORTEX, CORTEX, PREOPTIC, SUBSTANTIANIGRA, HYPOTHALAMUS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024935
Chromosome 19
Coordinate 28,911,769     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 120
Allele Frequency
G:R0.46
A:V0.54
Amino Acid Change V->M (Valine -> Methionine)
Sample ID IGL02726
Median Base Quality 39
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 45 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved , Line Propagating