Incidental Mutation 'R7690:Fpgt'
ID 593322
Institutional Source Beutler Lab
Gene Symbol Fpgt
Ensembl Gene ENSMUSG00000053870
Gene Name fucose-1-phosphate guanylyltransferase
Synonyms 1700016E03Rik
MMRRC Submission 045754-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R7690 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 154790552-154799024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 154793467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 187 (S187P)
Ref Sequence ENSEMBL: ENSMUSP00000068939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066568]
AlphaFold G5E8F4
Predicted Effect probably damaging
Transcript: ENSMUST00000066568
AA Change: S187P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068939
Gene: ENSMUSG00000053870
AA Change: S187P

DomainStartEndE-ValueType
low complexity region 82 92 N/A INTRINSIC
Pfam:Fucokinase 106 524 1.8e-147 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (57/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,353,313 (GRCm39) T710S probably benign Het
Adgrl2 A G 3: 148,522,934 (GRCm39) L430P Het
Agap1 T C 1: 89,770,793 (GRCm39) S648P probably benign Het
Alox5 T C 6: 116,392,417 (GRCm39) H368R probably damaging Het
Ano2 T C 6: 125,990,161 (GRCm39) F761L probably damaging Het
Aox4 T C 1: 58,303,076 (GRCm39) V1169A probably damaging Het
Apbb1ip T A 2: 22,706,996 (GRCm39) M11K unknown Het
Arl5a G T 2: 52,302,077 (GRCm39) H112Q possibly damaging Het
Ccdc18 C T 5: 108,376,528 (GRCm39) T1323I probably benign Het
Cmtm5 G A 14: 55,173,938 (GRCm39) probably benign Het
Cul2 T C 18: 3,419,420 (GRCm39) Y194H probably benign Het
Daglb T C 5: 143,479,938 (GRCm39) I415T possibly damaging Het
Ddx28 A G 8: 106,736,963 (GRCm39) V365A probably damaging Het
Dnah6 T C 6: 73,146,063 (GRCm39) probably null Het
Eppk1 T A 15: 75,995,946 (GRCm39) T312S probably benign Het
Erich4 C A 7: 25,314,710 (GRCm39) V68L possibly damaging Het
Fam171a2 G A 11: 102,328,660 (GRCm39) P700S probably benign Het
Fat3 T C 9: 15,909,477 (GRCm39) N2175S probably damaging Het
Fcrl6 T G 1: 172,426,223 (GRCm39) R191S probably damaging Het
Gapvd1 T G 2: 34,619,134 (GRCm39) T80P possibly damaging Het
Gclm A G 3: 122,039,705 (GRCm39) N24S probably damaging Het
Gdf15 A G 8: 71,083,997 (GRCm39) I89T possibly damaging Het
Gpn2 A G 4: 133,318,693 (GRCm39) E306G probably damaging Het
Iars2 A T 1: 185,053,194 (GRCm39) L359Q probably damaging Het
Kbtbd4 T G 2: 90,736,240 (GRCm39) C84G possibly damaging Het
Manea A G 4: 26,327,910 (GRCm39) V377A probably benign Het
Map4 C T 9: 109,828,861 (GRCm39) T82I probably damaging Het
Mocos C T 18: 24,797,082 (GRCm39) H81Y probably damaging Het
Mtx1 T A 3: 89,120,088 (GRCm39) T87S Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Myom2 A T 8: 15,161,717 (GRCm39) probably null Het
Mzt1 C T 14: 99,278,024 (GRCm39) C48Y probably damaging Het
Nlrp9b C A 7: 19,758,295 (GRCm39) P511T probably benign Het
Noc2l A G 4: 156,322,088 (GRCm39) E135G probably benign Het
Nova1 G A 12: 46,767,549 (GRCm39) P124L unknown Het
Pax8 T A 2: 24,331,682 (GRCm39) T134S probably benign Het
Pde4a T A 9: 21,077,300 (GRCm39) L26Q probably damaging Het
Pde6b G A 5: 108,567,384 (GRCm39) E254K probably damaging Het
Pdlim7 A G 13: 55,656,744 (GRCm39) I70T probably damaging Het
Pinx1 T A 14: 64,101,660 (GRCm39) probably null Het
Pomt2 C A 12: 87,177,141 (GRCm39) R352L probably damaging Het
Rapgef5 G A 12: 117,685,105 (GRCm39) V519I possibly damaging Het
Rnps1 A G 17: 24,637,168 (GRCm39) E16G unknown Het
Slc4a5 T C 6: 83,262,854 (GRCm39) F782S probably damaging Het
Snap91 A G 9: 86,707,031 (GRCm39) V253A possibly damaging Het
Syce3 T C 15: 89,281,544 (GRCm39) M32V possibly damaging Het
Tcaf3 C A 6: 42,574,069 (GRCm39) V48L probably damaging Het
Tenm4 T C 7: 96,512,740 (GRCm39) V1366A probably benign Het
Tnxb G A 17: 34,908,494 (GRCm39) M1382I probably benign Het
Tnxb G A 17: 34,908,501 (GRCm39) G1385R probably damaging Het
Top3a G T 11: 60,647,206 (GRCm39) L238I probably damaging Het
Trim9 A T 12: 70,295,117 (GRCm39) N742K probably benign Het
Trp63 T A 16: 25,695,483 (GRCm39) Y482N unknown Het
Ttc23 T G 7: 67,319,918 (GRCm39) F192V possibly damaging Het
Uck1 A G 2: 32,148,184 (GRCm39) V180A probably benign Het
Vwa5b1 G A 4: 138,318,244 (GRCm39) T541I probably damaging Het
Zfp456 G T 13: 67,514,913 (GRCm39) H264Q probably damaging Het
Zfpm2 T G 15: 40,818,162 (GRCm39) V165G possibly damaging Het
Zup1 C T 10: 33,806,151 (GRCm39) probably null Het
Other mutations in Fpgt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Fpgt APN 3 154,797,129 (GRCm39) missense possibly damaging 0.92
IGL01412:Fpgt APN 3 154,792,359 (GRCm39) missense probably benign 0.06
IGL01860:Fpgt APN 3 154,792,483 (GRCm39) missense probably benign 0.38
IGL01977:Fpgt APN 3 154,793,655 (GRCm39) missense probably damaging 0.99
IGL02136:Fpgt APN 3 154,798,989 (GRCm39) missense probably benign
IGL02331:Fpgt APN 3 154,793,499 (GRCm39) missense possibly damaging 0.90
IGL03106:Fpgt APN 3 154,792,759 (GRCm39) missense probably damaging 1.00
PIT4431001:Fpgt UTSW 3 154,792,422 (GRCm39) missense possibly damaging 0.95
R2072:Fpgt UTSW 3 154,793,511 (GRCm39) missense probably damaging 1.00
R4287:Fpgt UTSW 3 154,796,997 (GRCm39) unclassified probably benign
R4607:Fpgt UTSW 3 154,792,333 (GRCm39) nonsense probably null
R4608:Fpgt UTSW 3 154,792,333 (GRCm39) nonsense probably null
R4873:Fpgt UTSW 3 154,793,550 (GRCm39) missense probably damaging 1.00
R4875:Fpgt UTSW 3 154,793,550 (GRCm39) missense probably damaging 1.00
R5973:Fpgt UTSW 3 154,793,040 (GRCm39) missense probably damaging 1.00
R7134:Fpgt UTSW 3 154,797,120 (GRCm39) missense probably damaging 1.00
R7300:Fpgt UTSW 3 154,792,612 (GRCm39) missense probably damaging 0.98
R7505:Fpgt UTSW 3 154,792,413 (GRCm39) missense possibly damaging 0.92
R7521:Fpgt UTSW 3 154,792,765 (GRCm39) missense possibly damaging 0.96
R7736:Fpgt UTSW 3 154,792,747 (GRCm39) missense probably benign 0.34
R7815:Fpgt UTSW 3 154,792,289 (GRCm39) missense probably benign 0.00
R8061:Fpgt UTSW 3 154,792,903 (GRCm39) missense probably benign 0.00
R9017:Fpgt UTSW 3 154,792,903 (GRCm39) missense probably benign 0.01
R9298:Fpgt UTSW 3 154,792,695 (GRCm39) nonsense probably null
R9375:Fpgt UTSW 3 154,792,934 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GACAAGTTCTGTTGACCAAAGC -3'
(R):5'- TTCCCAATGCGAGTGCTTTAG -3'

Sequencing Primer
(F):5'- CAAAGCTTCGTTGTCTATGCACAG -3'
(R):5'- GTGCTTTAGGAAAGATCTTCACAGCC -3'
Posted On 2019-11-12