Incidental Mutation 'R4608:Fpgt'
Institutional Source Beutler Lab
Gene Symbol Fpgt
Ensembl Gene ENSMUSG00000053870
Gene Namefucose-1-phosphate guanylyltransferase
MMRRC Submission 041819-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #R4608 (G1)
Quality Score225
Status Validated
Chromosomal Location155084918-155093403 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 155086696 bp
Amino Acid Change Glutamine to Stop codon at position 565 (Q565*)
Ref Sequence ENSEMBL: ENSMUSP00000068939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066568]
Predicted Effect probably null
Transcript: ENSMUST00000066568
AA Change: Q565*
SMART Domains Protein: ENSMUSP00000068939
Gene: ENSMUSG00000053870
AA Change: Q565*

low complexity region 82 92 N/A INTRINSIC
Pfam:Fucokinase 106 524 1.8e-147 PFAM
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (80/80)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930022D16Rik A G 11: 109,418,029 I74V unknown Het
Acss3 T A 10: 106,967,029 I452F possibly damaging Het
Adam10 T C 9: 70,743,891 L66P probably damaging Het
Adamts18 A T 8: 113,737,613 C738S probably damaging Het
Adamts7 T G 9: 90,174,540 S221A probably damaging Het
Adrm1 A G 2: 180,174,855 probably benign Het
Aqp1 T C 6: 55,336,639 V50A possibly damaging Het
Aqp4 T C 18: 15,398,126 I193V probably benign Het
B130006D01Rik A T 11: 95,726,240 probably benign Het
Bbs10 T G 10: 111,300,820 I598S probably damaging Het
Bbs10 A G 10: 111,301,134 K703E probably benign Het
Ccnl1 C T 3: 65,946,710 probably benign Het
Crocc2 G A 1: 93,168,794 V24M possibly damaging Het
Dab1 C T 4: 104,731,751 A524V probably benign Het
Dcdc2a T A 13: 25,061,240 L100* probably null Het
Eif4g3 G T 4: 138,126,458 R618L probably benign Het
F5 C T 1: 164,209,029 P1920S probably benign Het
Fam187b T A 7: 30,977,745 N226K probably benign Het
Fancc C A 13: 63,331,823 probably benign Het
Fastk G T 5: 24,443,119 P233H probably damaging Het
Fbn1 A C 2: 125,306,500 D2609E probably benign Het
Fes G A 7: 80,387,211 R42W probably damaging Het
Fmnl2 T A 2: 53,103,716 N374K possibly damaging Het
Gckr A G 5: 31,307,797 D370G probably damaging Het
Ggt6 T C 11: 72,437,943 M385T probably benign Het
Gm26657 C A 4: 56,741,114 H100N probably benign Het
Gm6588 A G 5: 112,449,898 S104G possibly damaging Het
Gsg1l T A 7: 125,958,549 I136F probably damaging Het
Hhip C T 8: 79,997,563 R350Q probably damaging Het
Ints1 C T 5: 139,759,844 S1353N probably benign Het
Ints10 G A 8: 68,810,619 R394Q probably damaging Het
Ints6 T G 14: 62,703,229 R557S probably damaging Het
Ints9 T A 14: 65,032,280 I473N possibly damaging Het
Itih4 G A 14: 30,901,669 G915R probably damaging Het
Kif1a C A 1: 93,024,646 A1304S possibly damaging Het
Kif21b C T 1: 136,148,186 probably benign Het
Klk13 C A 7: 43,713,860 C10* probably null Het
Krtap4-8 C T 11: 99,780,495 probably benign Het
Lef1 T C 3: 131,184,733 S167P probably benign Het
Leng8 T A 7: 4,144,797 I607N probably damaging Het
Lrch4 T A 5: 137,639,146 L526* probably null Het
Memo1 G A 17: 74,258,461 Q36* probably null Het
Nod1 C A 6: 54,943,756 A526S probably damaging Het
Nostrin G A 2: 69,183,899 V400M possibly damaging Het
Nrip1 T C 16: 76,293,032 T546A probably benign Het
Nxf1 A G 19: 8,762,763 D98G probably benign Het
Olfr1219 G T 2: 89,074,312 P260T probably benign Het
Olfr303 A T 7: 86,394,510 probably null Het
Olfr31 A G 14: 14,328,887 M259V probably benign Het
Olfr365 T A 2: 37,202,082 Y280* probably null Het
Olfr538 A G 7: 140,574,641 M163V probably benign Het
Olfr753-ps1 A T 17: 37,170,282 V20E probably damaging Het
Osgep T C 14: 50,917,921 Y60C probably damaging Het
P2ry6 A G 7: 100,938,304 Y283H probably damaging Het
Pcdha7 A T 18: 36,975,817 S632C possibly damaging Het
Pms1 T A 1: 53,194,938 R806S possibly damaging Het
Qars T A 9: 108,509,426 probably null Het
Rxfp1 T C 3: 79,686,889 N66S probably damaging Het
Slc12a5 A T 2: 164,973,765 N67I probably damaging Het
Slc1a4 G T 11: 20,304,348 T506K probably damaging Het
Tlr9 T A 9: 106,224,974 I488N probably damaging Het
Tmem110 C A 14: 30,872,533 probably benign Het
Tmem74 G T 15: 43,867,158 T163K probably damaging Het
Uba2 T C 7: 34,154,596 D307G probably damaging Het
Uty C T Y: 1,131,134 R924Q probably damaging Het
Wdr7 C T 18: 63,777,580 T681I probably benign Het
Xab2 A G 8: 3,618,105 S158P probably benign Het
Ythdc1 T C 5: 86,822,808 S418P probably damaging Het
Zfand4 T A 6: 116,328,234 C207* probably null Het
Zfp367 C T 13: 64,135,424 D305N probably damaging Het
Zfp804b C T 5: 6,772,584 V160I probably benign 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
IGL02136:Fpgt APN 3 155093352 missense probably benign
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-10-08