St6galnac1 - SNV Details



 Gene Information 
Gene Name St6galnac1
Old Gene Names for St6galnac1 Siat7a
Gene Description ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 [Source:MGI Symbol;Acc:MGI:1341826]
Uniprot Name
CCDS Name
Gene GO
ganglioside biosynthetic process; protein glycosylation; oligosaccharide biosynthetic process; alpha-N-acetylgalactosaminide alpha-2
6-sialyltransferase activity; sialyltransferase activity; integral to Golgi membrane
Homolog in other species ST6GALNAC1
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP AND DC.LC.SK)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000009588
Chromosome 11
Coordinate 116,767,702     (Assembly: GRCm38)    
Ref Base T
Codon Change gAc/gGc
Var Base C
Zygosity Heterozygous
Read Depth 33
Allele Frequency
T:R0.45
C:V0.55
Amino Acid Position 312
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02569
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 31 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000009732:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Glycosyl transferase, family 29 Glyco_trans_29 IPR001675 ENSMUSP00000009732 Pfam 230
518 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved