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|Institutional Source||Beutler Lab|
|Gene Name||mannoside acetylglucosaminyltransferase 3|
|Is this an essential gene?||Possibly non essential (E-score: 0.393)|
|Stock #||R5083 (G1)|
|Chromosomal Location||80173721-80215519 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 80211298 bp|
|Amino Acid Change||Valine to Methionine at position 109 (V109M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000043077 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044970]|
|Predicted Effect||possibly damaging
AA Change: V109M
PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: V109M
|Coding Region Coverage||
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'- TCTGGAACAATGCCCCTGTC -3'
(R):5'- TGGAATACTGCACCACCGTG -3'
(F):5'- GAACAATGCCCCTGTCACTCC -3'
(R):5'- AACCCACTTGCGCCTAGTG -3'