Grid1 - SNV Details



 Gene Information 
Gene Name Grid1
Gene Description glutamate receptor, ionotropic, delta 1 [Source:MGI Symbol;Acc:MGI:95812]
MGI phenotype Homozygotes for a targeted null mutation display a significant high-frequency hearing loss, associated with reductions of both cochlear outer hair cell function and endolymphatic potential, as well as increased vulnerability to acoustic injury.
Uniprot Name
CCDS Name
Gene GO
postsynaptic membrane; synaptic transmission
glutamatergic; membrane; extracellular-glutamate-gated ion channel activity; transporter activity; ion transmembrane transport; ionotropic glutamate receptor complex; cell junction; extracellular vesicular exosome; transport; social behavior; ionotropic glutamate receptor activity; dendrite; ionotropic glutamate receptor signaling pathway
Homolog in other species GRID1
Omim http://omim.org/entry/610659
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000041078
Chromosome 14
Coordinate 35,520,685     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 58
Allele Frequency
T:R0.43
A:V0.57
Amino Acid Change Disrupted splicing
Splice Position 4
Sample ID IGL03286
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved