Gne - SNV Details



 Human Rare Diseases 
Sialuria
Distal myopathy, Nonaka type

 Gene Information 
Gene Name Gne
Old Gene Names for Gne 2310066h07rik , Uae1
Gene Description glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [Source:MGI Symbol;Acc:MGI:1354951]
MGI phenotype Homozygotes for a targeted null mutation have a block in sialic acid biosynthesis and die before embryonic day 10.5.
Uniprot Name
CCDS Name
Gene GO
catalytic activity; N-acylmannosamine kinase activity; cytoplasm; metal ion binding; N-acetylneuraminate metabolic process; UDP-N-acetylglucosamine 2-epimerase activity; cytosol; UDP-N-acetylglucosamine metabolic process; ATP binding; N-acetylneuraminate biosynthetic process; lipopolysaccharide biosynthetic process; N-acetylglucosamine biosynthetic process
Homolog in other species GNE
Omim http://omim.org/entry/603824
Immgen Expression
MEDIAN(HIGH IN BCELL GROUP, DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
MEDIAN(HIGH IN KIDNEY, LIVER, IMM GROUP, OSTEO GROUP, PROSTATE)
MEDIAN(HIGH IN KIDNEY, LIVER, IMM GROUP, OSTEO GROUP, PROSTATE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028479
Chromosome 4
Coordinate 44,044,761     (Assembly: GRCm38)    
Ref Base T
Codon Change Aag/Gag
Var Base C
Zygosity Heterozygous
Read Depth 48
Allele Frequency
T:R0.48
C:V0.52
Amino Acid Position 458
Amino Acid Change K->E (Lysine -> Glutamic acid)
Sample ID IGL02216
Median Base Quality 37.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 54 Other Mutations

 Predictions 
Polyphen Score 0.06
Polyphen Prediction Benign
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved