|Institutional Source||Beutler Lab|
|Gene Name||mannoside acetylglucosaminyltransferase 3|
|Is this an essential gene?||Possibly non essential (E-score: 0.277)|
|Stock #||R4992 (G1)|
|Chromosomal Location||80173721-80215519 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 80212542 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 523 (D523E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043077 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044970]|
|AlphaFold||no structure available at present|
AA Change: D523E
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: D523E
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||98% (84/86)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are believed to be over 100 different glycosyltransferases involved in the synthesis of protein-bound and lipid-bound oligosaccharides. The enzyme encoded by this gene transfers a GlcNAc residue to the beta-linked mannose of the trimannosyl core of N-linked oligosaccharides and produces a bisecting GlcNAc. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced DEN and PB-induced hepatic tumors and reduced hepatocyte proliferation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mgat3||
(F):5'- TTACATCCGCAGCTTGATCCG -3'
(R):5'- CCTGACCCTTAATTCTAGAGGCC -3'
(F):5'- AGCTTGATCCGCACTGGG -3'
(R):5'- CTTAATTCTAGAGGCCTGAGCACAG -3'