|Institutional Source||Beutler Lab|
|Gene Name||UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1|
|Synonyms||Brainiac 1, B3galt3, Globoside blood group, Mbrn 1|
|Is this an essential gene?||Probably non essential (E-score: 0.103)|
|Stock #||R7236 (G1)|
|Chromosomal Location||69574158-69598960 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 69575617 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 104 (K104E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000058363 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061826]|
|Predicted Effect||probably benign
AA Change: K104E
PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: K104E
|Coding Region Coverage||
|Validation Efficiency||100% (66/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]
PHENOTYPE: A homozygous null mutation of this gene results in embryonic lethality. Mice homozygous for a second allele appear normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in B3galnt1||
(F):5'- TGGGGCAAAACTCCATTACC -3'
(R):5'- CCCCACTACAATGTGATCGAG -3'
(F):5'- TTACCCACCTGAAAGCCATAATGG -3'
(R):5'- TACAATGTGATCGAGCGCGTC -3'