Slc7a5,Gm20388 - SNV Details



 Gene Information 
Gene Name Slc7a5 , Gm20388
Old Gene Names for Slc7a5 D0h16s474e
Gene Description predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853],solute carrier family 7 (cationic amino acid transporter, y+ system), member 5 [Source:MGI Symbol;Acc:MGI:1298205]
Uniprot Name
CCDS Name
Gene GO
cell differentiation; amino acid transmembrane transporter activity; membrane; nervous system development; integral to membrane; apical plasma membrane; amino acid transmembrane transport; cytosol; transport; L-amino acid transport; transmembrane transport; L-amino acid transmembrane transporter activity; amino acid transport
integral to membrane; Golgi cisterna membrane; protein glycosylation; polypeptide N-acetylgalactosaminyltransferase activity; carbohydrate binding; extracellular region
Homolog in other species NO_HOMOLOG,SLC7A5
Omim http://omim.org/entry/600182,NO_OMIM
Immgen Expression
MEDIAN(LOW IN GN.BM, HIGH IN B.GC.SP, PROB.FRBC.FL),NO_IMMGEN
Gnf Expression
MEDIAN(HIGH IN M1),NO_GNF
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000092329
Chromosome 8
Coordinate 121,886,390     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 22
Allele Frequency
A:R0.55
G:V0.46
Amino Acid Change Disrupted splicing
Splice Position 7
Sample ID IGL02192
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 61 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved