|Institutional Source||Beutler Lab|
|Synonyms||L-fucose kinase, 1110046B12Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.163)|
|Stock #||R5009 (G1)|
|Chromosomal Location||110882456-110902488 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 110887830 bp|
|Amino Acid Change||Cysteine to Tyrosine at position 609 (C609Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000039271 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000041382] [ENSMUST00000212971]|
|Predicted Effect||probably damaging
AA Change: C609Y
PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
AA Change: C609Y
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.8174|
|Coding Region Coverage||
|Validation Efficiency||100% (91/91)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the GHMP (galacto-, homoserine, mevalonate and phosphomevalonate) kinase family and catalyzes the phosphorylation of L-fucose to form beta-L-fucose 1-phosphate. This enzyme catalyzes the first step in the utilization of free L-fucose in glycoprotein and glycolipid synthesis. L-fucose may be important in mediating a number of cell-cell interactions such as blood group antigen recognition, inflammation, and metastatis. While several transcript variants may exist for this gene, the full-length nature of only one has been described to date. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fuk||
(F):5'- CAGATGGCTCCTTGACAGATTCTAG -3'
(R):5'- TGCTAGGGTGCATTCACAGG -3'
(F):5'- GACAGATTCTAGTTTGATTCACACCC -3'
(R):5'- TGCATTCACAGGCAGGG -3'