Incidental Mutation 'R2072:Fpgt'
ID 227204
Institutional Source Beutler Lab
Gene Symbol Fpgt
Ensembl Gene ENSMUSG00000053870
Gene Name fucose-1-phosphate guanylyltransferase
Synonyms 1700016E03Rik
MMRRC Submission 040077-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R2072 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 154790552-154799024 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154793511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 172 (Y172C)
Ref Sequence ENSEMBL: ENSMUSP00000068939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066568]
AlphaFold G5E8F4
Predicted Effect probably damaging
Transcript: ENSMUST00000066568
AA Change: Y172C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068939
Gene: ENSMUSG00000053870
AA Change: Y172C

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 noncoding transcript
Transcript: ENSMUST00000192959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193071
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195505
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G C 5: 64,056,080 (GRCm39) R272P possibly damaging Het
Ablim3 A T 18: 61,990,159 (GRCm39) D83E possibly damaging Het
Aco1 G A 4: 40,183,605 (GRCm39) G508S probably damaging Het
Adamts13 C A 2: 26,895,437 (GRCm39) T1176N probably benign Het
Adgre5 T C 8: 84,454,433 (GRCm39) T357A probably benign Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Ankrd33 T C 15: 101,017,517 (GRCm39) V310A probably benign Het
Armh3 A T 19: 45,953,820 (GRCm39) I188K probably damaging Het
Bnipl C T 3: 95,151,522 (GRCm39) G232E probably damaging Het
Btbd17 A T 11: 114,682,778 (GRCm39) probably null Het
Cacna1s G A 1: 136,007,242 (GRCm39) V173I probably benign Het
Ccdc122 T C 14: 77,306,391 (GRCm39) probably null Het
Ces1a T A 8: 93,774,703 (GRCm39) N12Y probably benign Het
Chrdl1 T C X: 142,086,414 (GRCm39) I231V probably benign Het
Ciita C T 16: 10,336,217 (GRCm39) T958I probably benign Het
Cnot1 G T 8: 96,466,461 (GRCm39) T1592K possibly damaging Het
Dcaf15 T C 8: 84,828,370 (GRCm39) D240G probably damaging Het
Dlgap1 C T 17: 70,969,765 (GRCm39) R524C probably damaging Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
Dsg1c A G 18: 20,408,309 (GRCm39) M453V probably benign Het
Ednrb G T 14: 104,054,535 (GRCm39) N432K probably benign Het
Fcgbp G A 7: 27,819,814 (GRCm39) G2514S probably damaging Het
Fez1 A G 9: 36,779,241 (GRCm39) K306R probably benign Het
Fmo4 A G 1: 162,637,456 (GRCm39) V12A probably benign Het
Fsip2 T A 2: 82,839,159 (GRCm39) F6976I possibly damaging Het
Galnt12 C T 4: 47,108,477 (GRCm39) R205* probably null Het
Grik5 A T 7: 24,714,738 (GRCm39) M752K possibly damaging Het
Herc2 A G 7: 55,876,712 (GRCm39) N4516S probably damaging Het
Ifrd2 A T 9: 107,469,744 (GRCm39) D439V probably damaging Het
Igsf3 A G 3: 101,346,831 (GRCm39) T609A probably benign Het
Kif5a T C 10: 127,081,238 (GRCm39) D232G probably damaging Het
Lgi2 A G 5: 52,695,847 (GRCm39) S371P probably damaging Het
Marchf3 A T 18: 56,944,925 (GRCm39) V56E possibly damaging Het
Mib2 T C 4: 155,744,158 (GRCm39) D168G probably damaging Het
Nhs T A X: 160,625,717 (GRCm39) H544L probably damaging Het
Nlrp2 A G 7: 5,328,005 (GRCm39) S683P probably damaging Het
Onecut3 T G 10: 80,330,848 (GRCm39) L3V unknown Het
Or12j2 T C 7: 139,916,566 (GRCm39) S264P possibly damaging Het
Or4c35 C A 2: 89,808,557 (GRCm39) T145K probably benign Het
Or5b102 A T 19: 13,041,044 (GRCm39) M90L probably benign Het
Otogl C T 10: 107,616,904 (GRCm39) C1791Y probably damaging Het
Paip1 T C 13: 119,566,798 (GRCm39) V128A possibly damaging Het
Pcnx2 A T 8: 126,488,481 (GRCm39) C1688S possibly damaging Het
Pdzd2 A G 15: 12,385,905 (GRCm39) L955P probably damaging Het
Phlpp2 T C 8: 110,655,124 (GRCm39) S605P possibly damaging Het
Pkhd1l1 G T 15: 44,422,035 (GRCm39) A3102S probably damaging Het
Plxnb2 G T 15: 89,042,654 (GRCm39) R1545S probably damaging Het
Ppp4c T C 7: 126,386,520 (GRCm39) probably null Het
Prune1 C T 3: 95,162,719 (GRCm39) R318Q probably benign Het
Psg27 T C 7: 18,294,342 (GRCm39) D355G probably damaging Het
Psg27 A G 7: 18,298,934 (GRCm39) L129P probably benign Het
Psmc6 A G 14: 45,567,323 (GRCm39) K7E possibly damaging Het
Reln A T 5: 22,124,175 (GRCm39) V2777E probably damaging Het
Rigi A T 4: 40,224,069 (GRCm39) probably null Het
Scn11a G T 9: 119,640,274 (GRCm39) A207E possibly damaging Het
Slc5a5 C T 8: 71,345,083 (GRCm39) G75R possibly damaging Het
Smarcd2 A T 11: 106,156,133 (GRCm39) L42* probably null Het
Smg1 T C 7: 117,762,389 (GRCm39) probably benign Het
Smurf2 T A 11: 106,732,595 (GRCm39) Q335L probably benign Het
Sspo A T 6: 48,450,451 (GRCm39) H2580L probably benign Het
Stk3 T C 15: 34,959,195 (GRCm39) M256V possibly damaging Het
Syt1 A G 10: 108,419,833 (GRCm39) I276T probably damaging Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Taar9 A T 10: 23,984,877 (GRCm39) C186S probably damaging Het
Tnrc6b C T 15: 80,767,166 (GRCm39) P977L possibly damaging Het
Trp53bp2 A G 1: 182,286,432 (GRCm39) T1091A probably benign Het
Ttn G T 2: 76,768,120 (GRCm39) T2947N probably damaging Het
Ube2q1 T C 3: 89,686,878 (GRCm39) probably null Het
Ube3c A G 5: 29,840,638 (GRCm39) E671G probably benign Het
Upf3a A G 8: 13,835,850 (GRCm39) K56R possibly damaging Het
Vmn2r15 A T 5: 109,434,619 (GRCm39) M695K possibly damaging Het
Vmn2r3 A T 3: 64,182,493 (GRCm39) M402K possibly damaging Het
Zfp354b T A 11: 50,813,279 (GRCm39) R549* probably null Het
Zfp37 A T 4: 62,109,945 (GRCm39) M411K probably damaging Het
Zfp747 T A 7: 126,973,142 (GRCm39) T343S possibly damaging Het
Zfp853 T A 5: 143,275,137 (GRCm39) Q161L unknown 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
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
R7690:Fpgt UTSW 3 154,793,467 (GRCm39) missense probably damaging 1.00
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'- AGACAAGTTCTGTTGACCAAAGC -3'
(R):5'- TTCCCAATGCGAGTGCTTTAGG -3'

Sequencing Primer
(F):5'- CAAAGCTTCGTTGTCTATGCACAG -3'
(R):5'- GTGCTTTAGGAAAGATCTTCACAGCC -3'
Posted On 2014-09-17