Ugcg - SNV Details



 Gene Information 
Gene Name Ugcg
Old Gene Names for Ugcg Au043821 , C80537 , Ugcgl
Gene Description UDP-glucose ceramide glucosyltransferase [Source:MGI Symbol;Acc:MGI:1332243]
MGI phenotype At embryonic day 7.5, embryos homozygous for a null mutation exhibit decreased size, markedly reduced extraembryonic tissues and a large increase in cells undergoing apoptosis. Mutants die by embryonic day 8.5.
Uniprot Name
CCDS Name
Gene GO
Golgi membrane; ceramide glucosyltransferase activity; integral to membrane; sphingolipid metabolic process
Homolog in other species UGCG
Omim http://omim.org/entry/602874
Immgen Expression
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
MEDIAN(HIGH IN IMM.G1, IMM.G3)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000028381
Chromosome 4
Coordinate 59,217,216     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 38
Allele Frequency
T:R0.61
C:V0.40
Amino Acid Change Disrupted splicing
Splice Position 2
Sample ID IGL01768
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved