|Institutional Source||Beutler Lab|
|Gene Name||LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase|
|Essential gene?||Probably essential (E-score: 0.930)|
|Stock #||R9803 (G1)|
|Chromosomal Location||140607320-140615545 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 140607773 bp (GRCm38)|
|Amino Acid Change||Threonine to Alanine at position 120 (T120A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031555 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031555]|
AA Change: T120A
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: T120A
|Coding Region Coverage||
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 manic fringe genes. They all encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define 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. This gene product is predicted to be a single-pass type II Golgi membrane protein but it may also be secreted and proteolytically processed like the related proteins in mouse and Drosophila (PMID: 9187150). Mutations in this gene have been associated with autosomal recessive spondylocostal dysostosis 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a short tail and abnormal rib, somite, and lung development. Mice homozygous mice exhibit reduced female fertility, abnormal hair cells, and abnormal axial skeleton morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lfng||
(F):5'- TAGATATTACGTGCGGCCGC -3'
(R):5'- AAGCAATTAACGCATCGGGAAC -3'
(F):5'- TGTCTCCTGGTGCTCACGG -3'
(R):5'- GGAACCGCTATCGTCAGTCAC -3'