Galnt2,Gm20388 - SNV Details



 Gene Information 
Gene Name Galnt2 , Gm20388
Old Gene Names for Galnt2 Ai480629
Gene Description predicted gene 20388 [Source:MGI Symbol;Acc:MGI:5141853],UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 [Source:MGI Symbol;Acc:MGI:894694]
Uniprot Name
CCDS Name
Gene GO
integral to membrane; Golgi cisterna membrane; protein glycosylation; polypeptide N-acetylgalactosaminyltransferase activity; carbohydrate binding; extracellular region
Homolog in other species GALNT2,NO_HOMOLOG
Omim NO_OMIM,http://omim.org/entry/602274
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP),NO_IMMGEN
Gnf Expression
HIGH(LOWER IN FERTILIZEDEGG, PANCREAS, BROWNFAT, THYROID),NO_GNF
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000092329
Chromosome 8
Coordinate 124,231,579     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 19
Allele Frequency
G:R0.63
A:V0.37
Amino Acid Change G->D (Glycine -> Aspartic acid)
Sample ID IGL02638
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved