Incidental Mutation 'IGL02136:Fpgt'
ID281333
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fpgt
Ensembl Gene ENSMUSG00000053870
Gene Namefucose-1-phosphate guanylyltransferase
Synonyms1700016E03Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL02136
Quality Score
Status
Chromosome3
Chromosomal Location155084918-155093403 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 155093352 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 2 (A2E)
Ref Sequence ENSEMBL: ENSMUSP00000068939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029833] [ENSMUST00000066568] [ENSMUST00000192383] [ENSMUST00000194376]
Predicted Effect probably benign
Transcript: ENSMUST00000029833
SMART Domains Protein: ENSMUSP00000029833
Gene: ENSMUSG00000028182

DomainStartEndE-ValueType
SCOP:d1dcea3 36 155 3e-14 SMART
Blast:LRR 71 94 3e-6 BLAST
Blast:LRR 96 118 1e-5 BLAST
IQ 214 236 3.68e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066568
AA Change: A2E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068939
Gene: ENSMUSG00000053870
AA Change: A2E

DomainStartEndE-ValueType
low complexity region 82 92 N/A INTRINSIC
Pfam:Fucokinase 106 524 1.8e-147 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192247
Predicted Effect probably benign
Transcript: ENSMUST00000192383
SMART Domains Protein: ENSMUSP00000141372
Gene: ENSMUSG00000028182

DomainStartEndE-ValueType
Pfam:LRR_8 50 109 9e-9 PFAM
Pfam:LRR_4 72 117 1.9e-8 PFAM
Pfam:LRR_1 73 94 5.1e-3 PFAM
IQ 214 236 3.68e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194095
Predicted Effect probably benign
Transcript: ENSMUST00000194376
SMART Domains Protein: ENSMUSP00000142127
Gene: ENSMUSG00000028182

DomainStartEndE-ValueType
Pfam:LRR_8 50 109 7.2e-9 PFAM
Pfam:LRR_4 72 117 1.5e-8 PFAM
Pfam:LRR_1 73 94 4.2e-3 PFAM
IQ 214 236 3.68e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195505
Coding Region Coverage
Validation Efficiency
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
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,247,142 T2511K probably damaging Het
Acta2 T A 19: 34,251,830 D53V probably damaging Het
Banf1 G A 19: 5,365,070 A71V probably benign Het
Cacng5 A T 11: 107,881,731 I97N probably benign Het
Clec14a T A 12: 58,268,629 E69V probably damaging Het
Cracr2a T C 6: 127,629,930 probably benign Het
Dysf A G 6: 84,108,167 R845G probably benign Het
Dzip3 T C 16: 48,927,582 N949S possibly damaging Het
Eprs T G 1: 185,384,983 W408G probably damaging Het
Fgf14 G A 14: 123,980,372 P240S possibly damaging Het
Galntl5 T A 5: 25,220,062 S392R probably benign Het
Gatd1 A G 7: 141,408,960 *221Q probably null Het
Gcsam T A 16: 45,610,533 M1K probably null Het
Ksr2 A G 5: 117,616,894 N351S possibly damaging Het
Map1a T C 2: 121,300,212 V503A probably damaging Het
Myl12a T A 17: 70,996,856 K9* probably null Het
Ncapg2 A T 12: 116,460,583 M1129L probably benign Het
Olfr228 T C 2: 86,483,465 I92M probably damaging Het
Olfr744 T C 14: 50,618,251 S10P possibly damaging Het
Otof T C 5: 30,373,992 K1691E possibly damaging Het
Pdk4 A T 6: 5,486,715 M353K probably damaging Het
Pkhd1 A T 1: 20,275,615 W2730R probably damaging Het
Pkn2 T A 3: 142,853,590 K58I probably damaging Het
Plk5 T C 10: 80,363,167 probably null Het
Prkcq T C 2: 11,260,668 F399L probably benign Het
Ptprz1 G A 6: 22,972,822 V244M probably damaging Het
Rpusd2 T C 2: 119,038,178 F361L probably damaging Het
Rttn T A 18: 89,046,128 L1168I possibly damaging Het
S100a9 T C 3: 90,692,768 H107R probably benign Het
Serpinb3a T A 1: 107,046,285 M299L probably benign Het
Slfn8 G A 11: 83,003,465 Q783* probably null Het
Smc3 T C 19: 53,635,716 I721T probably benign Het
Top2b C A 14: 16,407,103 probably benign Het
Uvssa T A 5: 33,391,848 W351R probably damaging Het
Vmn2r107 G T 17: 20,374,906 V574L probably benign Het
Wdr3 G A 3: 100,138,725 R931* probably null Het
Other mutations in Fpgt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Fpgt APN 3 155091492 missense possibly damaging 0.92
IGL01412:Fpgt APN 3 155086722 missense probably benign 0.06
IGL01860:Fpgt APN 3 155086846 missense probably benign 0.38
IGL01977:Fpgt APN 3 155088018 missense probably damaging 0.99
IGL02331:Fpgt APN 3 155087862 missense possibly damaging 0.90
IGL03106:Fpgt APN 3 155087122 missense probably damaging 1.00
PIT4431001:Fpgt UTSW 3 155086785 missense possibly damaging 0.95
R2072:Fpgt UTSW 3 155087874 missense probably damaging 1.00
R4287:Fpgt UTSW 3 155091360 unclassified probably benign
R4607:Fpgt UTSW 3 155086696 nonsense probably null
R4608:Fpgt UTSW 3 155086696 nonsense probably null
R4873:Fpgt UTSW 3 155087913 missense probably damaging 1.00
R4875:Fpgt UTSW 3 155087913 missense probably damaging 1.00
R5973:Fpgt UTSW 3 155087403 missense probably damaging 1.00
R7134:Fpgt UTSW 3 155091483 missense probably damaging 1.00
R7300:Fpgt UTSW 3 155086975 missense probably damaging 0.98
R7505:Fpgt UTSW 3 155086776 missense possibly damaging 0.92
R7521:Fpgt UTSW 3 155087128 missense possibly damaging 0.96
R7690:Fpgt UTSW 3 155087830 missense probably damaging 1.00
R7736:Fpgt UTSW 3 155087110 missense probably benign 0.34
R7815:Fpgt UTSW 3 155086652 missense probably benign 0.00
R8061:Fpgt UTSW 3 155087266 missense probably benign 0.00
Posted On2015-04-16