Eogt - SNV Details



 Gene Information 
Gene Name Eogt
Old Gene Names for Eogt A130022j15rik , Ai447490 , Aw214473 , Aw259391
Gene Description EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase [Source:MGI Symbol;Acc:MGI:2141669]
Uniprot Name
CCDS Name
Gene GO
protein N-acetylglucosaminyltransferase activity; protein O-linked glycosylation; metabolic process; endoplasmic reticulum lumen; cellular_component; transferase activity
transferring glycosyl groups
Omim http://omim.org/entry/614789
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000035245
Chromosome 6
Coordinate 97,144,027     (Assembly: GRCm38)    
Ref Base T
Codon Change aAt/aTt
Var Base A
Zygosity Heterozygous
Read Depth 13
Allele Frequency
T:R0.54
A:V0.46
Amino Acid Position 75
Amino Acid Change N->I (Asparagine -> Isoleucine)
Sample ID IGL01292
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

 Predictions 
Polyphen Score 0.06
Polyphen Prediction Benign
Sift Score 0.12
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved