|Institutional Source||Beutler Lab|
|Gene Name||UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1|
|Synonyms||GalT, Ggtb, beta 1,4-Galactosyltransferase I, Ggtb2, beta-1,4-GalT1, b1,4-Galactosyltransferase I, B-1,4-GalT1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5903 (G1)|
|Chromosomal Location||40804602-40854005 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 40807760 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 347 (D347G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030121 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030121] [ENSMUST00000108096]|
|Predicted Effect||probably damaging
AA Change: D347G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D347G
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.5087|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
FUNCTION: This gene encodes two distinct enzyme isoforms, a long membrane-bound form and a short soluble form. These alternate isoforms are thought to be produced through alternative nested transcription initiation and different in-frame start codon usage. These enzymes catalyze the transfer of galactose to acceptor sugars, such as N-acetylglucosamine and glucose. The long form of this enzyme is localized to the trans-Golgi membrane and is involved in glycoconjugate biosynthesis. The short form functions in lactose biosynthesis though formation of a heterodimer with alpha-lactalbumin. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygotes for targeted null mutations exhibit growth retardation, low viability, excessive epithelial cell proliferation of skin and small intestine, sperm with reduced fertilizing capacity, birthing difficulty, and mammary gland defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in B4galt1||
(F):5'- AAAAGCCTGACTTACAGCCTG -3'
(R):5'- TTTGTGCTTCATGAACAGCG -3'
(F):5'- AGTGGATCACATCTCCAGTGC -3'
(R):5'- TCATGAACAGCGTTTAGGCC -3'