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MGI phenotype An unpublished knockout mutation is reported to have no overt phenotypic consequences.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
Gene GO
Golgi membrane; integral to membrane; protein glycosylation; polypeptide N-acetylgalactosaminyltransferase activity; carbohydrate binding
Homolog in other species GALNT5
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026828
Chromosome 2
Coordinate 58,025,393     (Assembly: GRCm38)    
Ref Base A
Codon Change Ata/Tta
Var Base T
Zygosity Heterozygous
Read Depth 20
Allele Frequency
Amino Acid Position 654
Amino Acid Change I->L (Isoleucine -> Leucine)
Sample ID IGL01152
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 56 Other Mutations

Polyphen Score 0.45
Polyphen Prediction Possibly damaging
Sift Score 0.48
Sift Prediction tolerated

 Protein domains 
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Glycosyl transferase, family 2 Glyco_trans_2 IPR001173 ENSMUSP00000108235 Pfam 489
669 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved