Incidental Mutation 'R0656:Fbp1'
ID 226151
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 038841-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R0656 (G1)
Quality Score 64
Status Validated
Chromosome 13
Chromosomal Location 63012567-63036096 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 63019099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 150 (E150K)
Ref Sequence ENSEMBL: ENSMUSP00000090564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092888] [ENSMUST00000134814] [ENSMUST00000150013]
AlphaFold Q9QXD6
Predicted Effect probably benign
Transcript: ENSMUST00000092888
AA Change: E150K

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000090564
Gene: ENSMUSG00000069805
AA Change: E150K

DomainStartEndE-ValueType
Pfam:FBPase 12 334 7.3e-145 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134814
SMART Domains Protein: ENSMUSP00000115703
Gene: ENSMUSG00000069805

DomainStartEndE-ValueType
Pfam:FBPase 12 57 3.6e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150013
AA Change: E31K

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000117146
Gene: ENSMUSG00000069805
AA Change: E31K

DomainStartEndE-ValueType
Pfam:FBPase 1 71 5.3e-35 PFAM
Pfam:FBPase 70 130 2.7e-26 PFAM
Meta Mutation Damage Score 0.1028 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.2%
Validation Efficiency 98% (92/94)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik T A 10: 70,704,630 (GRCm39) noncoding transcript Het
Alox5 A G 6: 116,400,291 (GRCm39) probably benign Het
Anxa11 T A 14: 25,874,421 (GRCm39) D203E probably damaging Het
Atp12a A T 14: 56,611,938 (GRCm39) N371Y probably damaging Het
Bloc1s6 A G 2: 122,584,543 (GRCm39) I39M probably benign Het
Celsr3 A C 9: 108,711,854 (GRCm39) I1688L possibly damaging Het
Cgn T C 3: 94,682,204 (GRCm39) probably benign Het
Chd4 A T 6: 125,079,930 (GRCm39) I453F probably damaging Het
Dbnl A G 11: 5,747,321 (GRCm39) T247A probably benign Het
Dpysl3 T C 18: 43,571,136 (GRCm39) E46G possibly damaging Het
Dsg1a T C 18: 20,468,949 (GRCm39) probably benign Het
Flnb T A 14: 7,927,352 (GRCm38) L1854Q probably damaging Het
Gcn1 C T 5: 115,727,362 (GRCm39) T714M probably benign Het
Gm12216 A T 11: 53,704,162 (GRCm39) probably benign Het
Gpr82 T C X: 13,531,829 (GRCm39) S126P probably benign Het
Hmbs T A 9: 44,248,657 (GRCm39) H256L probably benign Het
Ibsp A T 5: 104,457,886 (GRCm39) probably null Het
Ints13 A G 6: 146,453,959 (GRCm39) V240A probably benign Het
Iqca1l C T 5: 24,754,760 (GRCm39) V337M possibly damaging Het
Kalrn T C 16: 33,852,837 (GRCm39) D343G probably damaging Het
Kin T C 2: 10,090,531 (GRCm39) probably benign Het
Klhdc1 T C 12: 69,304,804 (GRCm39) V192A probably benign Het
Lpar3 T A 3: 145,946,426 (GRCm39) C35S possibly damaging Het
Lrrtm4 A G 6: 79,998,953 (GRCm39) I122V possibly damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mgat4c T C 10: 102,224,452 (GRCm39) M222T probably damaging Het
Muc4 C A 16: 32,570,488 (GRCm39) S516Y possibly damaging Het
Myo1e A T 9: 70,274,956 (GRCm39) Q703L probably damaging Het
Neb A G 2: 52,115,570 (GRCm39) probably benign Het
Necab3 T G 2: 154,388,223 (GRCm39) E239A probably null Het
Npr1 G T 3: 90,368,676 (GRCm39) N461K probably benign Het
Or4k44 T C 2: 111,367,972 (GRCm39) I221V probably damaging Het
Pcdhb2 A G 18: 37,428,543 (GRCm39) Y172C probably damaging Het
Pcdhb7 A G 18: 37,474,954 (GRCm39) D30G probably benign Het
Phf12 A C 11: 77,920,158 (GRCm39) Q898P probably benign Het
Plekhn1 T C 4: 156,309,821 (GRCm39) E132G possibly damaging Het
Ptpn3 A G 4: 57,270,075 (GRCm39) V29A probably benign Het
Rundc3b T A 5: 8,619,529 (GRCm39) I143F probably damaging Het
Ryr3 T G 2: 112,478,651 (GRCm39) probably benign Het
Sash1 A G 10: 8,626,901 (GRCm39) probably null Het
Slc4a2 A G 5: 24,636,257 (GRCm39) D201G probably benign Het
Tecpr1 T A 5: 144,150,871 (GRCm39) probably null Het
Timm21 T C 18: 84,967,326 (GRCm39) H150R probably damaging Het
Tmem79 T C 3: 88,240,241 (GRCm39) T236A probably damaging Het
Usp34 G T 11: 23,422,967 (GRCm39) V3095F probably damaging Het
Vmn1r8 A T 6: 57,013,573 (GRCm39) Q208L probably benign 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
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
R4990:Fbp1 UTSW 13 63,012,888 (GRCm39) missense probably benign 0.09
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 PCR Primer
(F):5'- TTGTCACGCCCCAAGCAATCTC -3'
(R):5'- TCCGTGAAAACAGTGGGTTCCACC -3'

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