|Institutional Source||Beutler Lab|
|Gene Name||MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase|
|Is this an essential gene?||Possibly non essential (E-score: 0.272)|
|Stock #||R6012 (G1)|
|Chromosomal Location||78755882-78773475 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 78756640 bp|
|Amino Acid Change||Arginine to Cysteine at position 302 (R302C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018313 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018313]|
|Predicted Effect||probably damaging
AA Change: R302C
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: R302C
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.396|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the fringe gene family which also includes radical and lunatic fringe genes. They all encode evolutionarily conserved secreted proteins that act in the Notch receptor pathway to demarcate boundaries during embryonic development. While their genomic structure is distinct from other glycosyltransferases, fringe proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a null mutation exhibit normal pancreatic development, morphology and physiology. Mice homozygous for a different knock-out allele exhibit altered lymphocyte numbers, abnormal circulating factors II, VII, IX and XI, and decreased prothrombin and partial thromboplastin time. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mfng||
(F):5'- AGCAGTGTCCATATCGTAGC -3'
(R):5'- GAGGGTCTCAAATCAGGGGTTG -3'
(F):5'- AGCAGTGTCCATATCGTAGCCTTTC -3'
(R):5'- CTCAAATCAGGGGTTGTTTGCCAG -3'