|Institutional Source||Beutler Lab|
|Gene Name||fucose-1-phosphate guanylyltransferase|
|Is this an essential gene?||Probably non essential (E-score: 0.109)|
|Stock #||R7300 (G1)|
|Chromosomal Location||155084918-155093403 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 155086975 bp|
|Amino Acid Change||Valine to Isoleucine at position 472 (V472I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000068939 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000066568]|
|Predicted Effect||probably damaging
AA Change: V472I
PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: V472I
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||94% (45/48)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] L-fucose is a key sugar in glycoproteins and other complex carbohydrates since it may be involved in many of the functional roles of these macromolecules, such as in cell-cell recognition. The fucosyl donor for these fucosylated oligosaccharides is GDP-beta-L-fucose. There are two alternate pathways for the biosynthesis of GDP-fucose; the major pathway converts GDP-alpha-D-mannose to GDP-beta-L-fucose. The protein encoded by this gene participates in an alternate pathway that is present in certain mammalian tissues, such as liver and kidney, and appears to function as a salvage pathway to reutilize L-fucose arising from the turnover of glycoproteins and glycolipids. This pathway involves the phosphorylation of L-fucose to form beta-L-fucose-1-phosphate, and then condensation of the beta-L-fucose-1-phosphate with GTP by fucose-1-phosphate guanylyltransferase to form GDP-beta-L-fucose. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream TNNI3 interacting kinase (TNNI3K) gene. [provided by RefSeq, Dec 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fpgt||
(F):5'- ATGCTGTAGCCGACTCACTC -3'
(R):5'- ACAGTATAGTGGATTCAGGATGC -3'
(F):5'- TCACTCAGAGATGAACAGACAG -3'
(R):5'- CCCTGGCTCAGTGGTAGAGTATTC -3'