|Institutional Source||Beutler Lab|
|Gene Name||UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 6|
|Is this an essential gene?||Probably non essential (E-score: 0.247)|
|Stock #||R1487 (G1)|
|Chromosomal Location||20684599-20746404 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 20706514 bp|
|Amino Acid Change||Valine to Alanine at position 121 (V121A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066515 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070080]|
|Predicted Effect||possibly damaging
AA Change: V121A
PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: V121A
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype with reduced lactosylceramide synthase in MEFs. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in B4galt6||
(F):5'- TGCTGGACCCAACTGAAAACAAGG -3'
(R):5'- AGGAGTAGCCCATACTGTCCATCAC -3'
(F):5'- CTCTCAGTTCCAGAAACTGGTGG -3'
(R):5'- ATCACTCTGTGACTGATGCTG -3'