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MGI phenotype An unpublished knockout mutation is reported to have no overt phenotypic consequences.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 58,025,393     (Assembly: GRCm38)    
Ref Base A
Codon Change Ata/Tta
Var Base T
Zygosity Heterozygous
Read Depth 20
Allele Frequency
A:R0.35
T:V0.65
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

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

 Protein domains 
ENSMUSP00000108235:
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