Incidental Mutation 'R4990:Fbp1'
ID 386155
Institutional Source Beutler Lab
Gene Symbol Fbp1
Ensembl Gene ENSMUSG00000069805
Gene Name fructose bisphosphatase 1
Synonyms Fbp3, FBPase brain isoform, Fbp-2, FBPase liver
MMRRC Submission 042584-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R4990 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 63012567-63036096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 63012888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 102 (V102I)
Ref Sequence ENSEMBL: ENSMUSP00000117146 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092888] [ENSMUST00000150013]
AlphaFold Q9QXD6
Predicted Effect probably benign
Transcript: ENSMUST00000092888
AA Change: V307I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000090564
Gene: ENSMUSG00000069805
AA Change: V307I

DomainStartEndE-ValueType
Pfam:FBPase 12 334 7.3e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150013
AA Change: V102I

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000117146
Gene: ENSMUSG00000069805
AA Change: V102I

DomainStartEndE-ValueType
Pfam:FBPase 1 71 5.3e-35 PFAM
Pfam:FBPase 70 130 2.7e-26 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fructose-1,6-bisphosphatase 1, a gluconeogenesis regulatory enzyme, catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate and inorganic phosphate. Fructose-1,6-diphosphatase deficiency is associated with hypoglycemia and metabolic acidosis. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,334,098 (GRCm39) I1135V possibly damaging Het
Abca14 G A 7: 119,911,388 (GRCm39) R1324K probably benign Het
Amer3 A C 1: 34,627,822 (GRCm39) D687A probably benign Het
Aplnr G A 2: 84,967,721 (GRCm39) V249M probably damaging Het
Atg16l1 A G 1: 87,717,091 (GRCm39) K471R probably benign Het
Cacna1b A G 2: 24,568,886 (GRCm39) probably null Het
Catspere2 A C 1: 177,925,987 (GRCm39) I218L probably benign Het
Ccdc152 A G 15: 3,330,639 (GRCm39) I12T probably benign Het
Cds1 A G 5: 101,946,245 (GRCm39) Y148C probably damaging Het
Cenpe T A 3: 134,962,401 (GRCm39) L1989Q probably damaging Het
Cep295 T C 9: 15,243,434 (GRCm39) Q1674R probably damaging Het
D930020B18Rik C G 10: 121,490,666 (GRCm39) P89A probably damaging Het
D930020B18Rik C T 10: 121,490,667 (GRCm39) P89L probably damaging Het
Dock2 T C 11: 34,586,078 (GRCm39) M535V probably damaging Het
Dscam A G 16: 96,626,715 (GRCm39) V398A probably benign Het
Elmo1 T C 13: 20,526,689 (GRCm39) F413S probably damaging Het
Emb T A 13: 117,401,046 (GRCm39) N198K probably damaging Het
Eno3 A G 11: 70,549,473 (GRCm39) D98G probably damaging Het
Fbxw18 T C 9: 109,517,461 (GRCm39) E414G probably damaging Het
Grem2 A G 1: 174,664,379 (GRCm39) C157R probably damaging Het
Hnrnpr G A 4: 136,063,609 (GRCm39) V239I probably damaging Het
Hnrnpr A G 4: 136,056,690 (GRCm39) E230G probably damaging Het
Ipo11 A T 13: 106,997,395 (GRCm39) I688K probably benign Het
Irx4 G T 13: 73,413,626 (GRCm39) R32L probably benign Het
Kcnh7 T C 2: 62,564,632 (GRCm39) N876D probably benign Het
Klk1b26 T A 7: 43,665,673 (GRCm39) probably null Het
Lrp2 G T 2: 69,311,732 (GRCm39) T2582K probably benign Het
Lrriq1 A G 10: 103,036,420 (GRCm39) I911T probably damaging Het
Megf6 A G 4: 154,351,683 (GRCm39) E1132G possibly damaging Het
Mesp1 A G 7: 79,442,669 (GRCm39) Y203H probably damaging Het
Ms4a4a T C 19: 11,356,201 (GRCm39) S29P probably benign Het
Nbeal2 A C 9: 110,463,871 (GRCm39) C1174G probably benign Het
Neb C T 2: 52,145,558 (GRCm39) V2989I probably benign Het
Nkx2-1 T C 12: 56,581,724 (GRCm39) Y41C possibly damaging Het
Nrxn3 T A 12: 89,227,244 (GRCm39) I293N probably damaging Het
Nt5e A G 9: 88,237,646 (GRCm39) N192S probably benign Het
Ntng1 A T 3: 110,042,577 (GRCm39) probably null Het
Or13a17 G A 7: 140,271,360 (GRCm39) E181K probably damaging Het
Or3a1d A G 11: 74,238,023 (GRCm39) I129T probably damaging Het
Or4c110 A T 2: 88,831,816 (GRCm39) I272K probably damaging Het
Or4c15b A T 2: 89,113,671 (GRCm39) probably null Het
Panx1 A G 9: 14,921,513 (GRCm39) Y121H probably damaging Het
Pcsk4 A G 10: 80,161,215 (GRCm39) I233T possibly damaging Het
Pgm3 T A 9: 86,440,465 (GRCm39) I409F probably damaging Het
Plg T C 17: 12,630,397 (GRCm39) Y645H probably benign Het
Pon3 T C 6: 5,221,619 (GRCm39) H337R probably benign Het
Rasa2 A G 9: 96,474,042 (GRCm39) I162T probably benign Het
Ror1 A G 4: 100,299,161 (GRCm39) I845V probably benign Het
Rpl4 T C 9: 64,082,167 (GRCm39) V22A probably benign Het
Ryr3 T C 2: 112,740,318 (GRCm39) N531S probably damaging Het
Ryr3 G T 2: 112,466,122 (GRCm39) Q4746K probably damaging Het
Sbno1 A T 5: 124,538,228 (GRCm39) F571I probably damaging Het
Scarf1 T C 11: 75,416,841 (GRCm39) V761A probably benign Het
Sec22b T G 3: 97,828,427 (GRCm39) probably null Het
Slc45a2 A G 15: 11,001,236 (GRCm39) M112V probably benign Het
Snai3 G A 8: 123,183,071 (GRCm39) T158M possibly damaging Het
Spata31d1a T C 13: 59,850,965 (GRCm39) N388D probably benign Het
Speer1e A T 5: 11,236,381 (GRCm39) E138V probably damaging Het
Sv2b T C 7: 74,767,470 (GRCm39) N642S possibly damaging Het
Svil T A 18: 5,056,810 (GRCm39) I561K probably benign Het
Trappc11 A T 8: 47,943,930 (GRCm39) D1127E probably benign Het
Triobp C A 15: 78,851,205 (GRCm39) A453D probably benign Het
Tubd1 T C 11: 86,448,665 (GRCm39) L295P probably damaging Het
Ulk4 C T 9: 121,021,852 (GRCm39) V620I probably benign Het
Vmn2r39 A G 7: 9,026,675 (GRCm39) I442T probably benign Het
Wwc1 T C 11: 35,767,393 (GRCm39) T413A probably benign Het
Zfp131 A C 13: 120,244,449 (GRCm39) V77G probably damaging Het
Zfyve26 T C 12: 79,334,607 (GRCm39) D137G probably damaging Het
Other mutations in Fbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02199:Fbp1 APN 13 63,015,193 (GRCm39) missense probably damaging 0.99
IGL02224:Fbp1 APN 13 63,035,821 (GRCm39) missense probably damaging 1.00
IGL02751:Fbp1 APN 13 63,022,957 (GRCm39) splice site probably null
IGL02887:Fbp1 APN 13 63,016,894 (GRCm39) missense probably benign
fruko UTSW 13 63,023,075 (GRCm39) missense probably damaging 1.00
PIT4362001:Fbp1 UTSW 13 63,015,194 (GRCm39) missense probably damaging 0.99
R0400:Fbp1 UTSW 13 63,012,882 (GRCm39) missense probably benign 0.04
R0656:Fbp1 UTSW 13 63,019,099 (GRCm39) missense probably benign 0.23
R1672:Fbp1 UTSW 13 63,015,245 (GRCm39) missense probably damaging 0.98
R2420:Fbp1 UTSW 13 63,019,120 (GRCm39) missense probably benign 0.00
R2422:Fbp1 UTSW 13 63,019,120 (GRCm39) missense probably benign 0.00
R3859:Fbp1 UTSW 13 63,012,930 (GRCm39) missense probably damaging 1.00
R4474:Fbp1 UTSW 13 63,023,075 (GRCm39) missense probably damaging 1.00
R4991:Fbp1 UTSW 13 63,012,888 (GRCm39) missense probably benign 0.09
R4992:Fbp1 UTSW 13 63,012,888 (GRCm39) missense probably benign 0.09
R5656:Fbp1 UTSW 13 63,023,010 (GRCm39) missense probably damaging 0.97
R6463:Fbp1 UTSW 13 63,012,824 (GRCm39) missense possibly damaging 0.52
R7381:Fbp1 UTSW 13 63,012,867 (GRCm39) missense probably benign 0.01
R7448:Fbp1 UTSW 13 63,020,564 (GRCm39) missense possibly damaging 0.83
R8309:Fbp1 UTSW 13 63,016,831 (GRCm39) missense probably benign
R8318:Fbp1 UTSW 13 63,012,825 (GRCm39) missense probably benign 0.00
R8781:Fbp1 UTSW 13 63,016,831 (GRCm39) missense probably benign
R8962:Fbp1 UTSW 13 63,023,067 (GRCm39) missense probably benign 0.37
R9605:Fbp1 UTSW 13 63,019,023 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2016-05-10