Galnt5 - SNV Details



 Gene Information 
Gene Name Galnt5
Gene Description UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 [Source:MGI Symbol;Acc:MGI:2179403]
MGI phenotype An unpublished knockout mutation is reported to have no overt phenotypic consequences.
Uniprot Name
CCDS Name
Gene GO
Golgi membrane; integral to membrane; protein glycosylation; polypeptide N-acetylgalactosaminyltransferase activity; carbohydrate binding
Homolog in other species GALNT5
Immgen Expression
LOW
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026828
Chromosome 2
Coordinate 57,998,939     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 90
Allele Frequency
A:R0.53
G:V0.47
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL00973
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.15
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved