|Institutional Source||Beutler Lab|
|Gene Name||UDP-glucose ceramide glucosyltransferase|
|Synonyms||Epcs21, Ugcgl, GlcT-1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0384 (G1)|
|Chromosomal Location||59189257-59222833 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 59220387 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 393 (D393E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030074 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030074]|
|Predicted Effect||possibly damaging
AA Change: D393E
PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: D393E
|Meta Mutation Damage Score||0.0947|
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the first glycosylation step in the biosynthesis of glycosphingolipids, which are membrane components containing lipid and sugar moieties. The product of this reaction is glucosylceramide, which is the core structure of many glycosphingolipids. [provided by RefSeq, Dec 2014]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ugcg||
(F):5'- TTGAACTTGGTCGTCAGGCTTCC -3'
(R):5'- TTTTCACAGATGCAAGTGCCATGC -3'
(F):5'- GTACCTTTAATCTGACAGGCAGTC -3'
(R):5'- GTGCCATGCAAATAAATTAAAGAGC -3'