Csgalnact1 - SNV Details



 Gene Information 
Gene Name Csgalnact1
Old Gene Names for Csgalnact1 4732435n03rik
Gene Description chondroitin sulfate N-acetylgalactosaminyltransferase 1 [Source:MGI Symbol;Acc:MGI:2442354]
MGI phenotype Mice homozygous for a knock-out allele exhibit decreased body weight and length, short limbs, and abnormal cartilage.
Uniprot Name
CCDS Name
Gene GO
chondroitin sulfate metabolic process; chondroitin sulfate proteoglycan biosynthetic process
polysaccharide chain biosynthetic process; glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity; integral to membrane; transferase activity
transferring hexosyl groups; metal ion binding; Golgi cisterna membrane; peptidoglycan glycosyltransferase activity; UDP-N-acetylgalactosamine metabolic process; UDP-glucuronate metabolic process; chondroitin sulfate biosynthetic process; endochondral ossification; extracellular matrix organization; glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity; glucuronosyltransferase activity; acetylgalactosaminyltransferase activity; cartilage development
Homolog in other species CSGALNACT1
Immgen Expression
MEDIAN(HIGHER IN MYELOID GROUP, DC GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000036356
Chromosome 8
Coordinate 68,401,492     (Assembly: GRCm38)    
Ref Base C
Codon Change gGc/gTc
Var Base A
Zygosity Heterozygous
Read Depth 19
Allele Frequency
C:R0.58
A:V0.42
Amino Acid Position 219
Amino Acid Change G->V (Glycine -> Valine)
Sample ID IGL02214
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

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

 Availability Details 
Availability Progeny Cryopreserved