Mutagenetix > Incidental Mutations

Incidental Mutation 'R4990:Fbp1'

386155

Institutional Source

Beutler Lab

Gene Symbol

Fbp1

Ensembl Gene

ENSMUSG00000069805

Gene Name

fructose bisphosphatase 1

Synonyms

Fbp-2, FBPase brain isoform, Fbp3, FBPase liver

MMRRC Submission

042584-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

R4990 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62864753-62888282 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62865074 bp

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]

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,294,939	I1135V	possibly damaging	Het
Abca14	G	A	7: 120,312,165	R1324K	probably benign	Het
Amer3	A	C	1: 34,588,741	D687A	probably benign	Het
Aplnr	G	A	2: 85,137,377	V249M	probably damaging	Het
Atg16l1	A	G	1: 87,789,369	K471R	probably benign	Het
Cacna1b	A	G	2: 24,678,874		probably null	Het
Ccdc152	A	G	15: 3,301,157	I12T	probably benign	Het
Cds1	A	G	5: 101,798,379	Y148C	probably damaging	Het
Cenpe	T	A	3: 135,256,640	L1989Q	probably damaging	Het
Cep295	T	C	9: 15,332,138	Q1674R	probably damaging	Het
D930020B18Rik	C	G	10: 121,654,761	P89A	probably damaging	Het
D930020B18Rik	C	T	10: 121,654,762	P89L	probably damaging	Het
Dock2	T	C	11: 34,695,251	M535V	probably damaging	Het
Dscam	A	G	16: 96,825,515	V398A	probably benign	Het
Elmo1	T	C	13: 20,342,519	F413S	probably damaging	Het
Emb	T	A	13: 117,264,510	N198K	probably damaging	Het
Eno3	A	G	11: 70,658,647	D98G	probably damaging	Het
Fbxw18	T	C	9: 109,688,393	E414G	probably damaging	Het
Gm16432	A	C	1: 178,098,421	I218L	probably benign	Het
Gm5861	A	T	5: 11,186,414	E138V	probably damaging	Het
Grem2	A	G	1: 174,836,813	C157R	probably damaging	Het
Hnrnpr	A	G	4: 136,329,379	E230G	probably damaging	Het
Hnrnpr	G	A	4: 136,336,298	V239I	probably damaging	Het
Ipo11	A	T	13: 106,860,887	I688K	probably benign	Het
Irx4	G	T	13: 73,265,507	R32L	probably benign	Het
Kcnh7	T	C	2: 62,734,288	N876D	probably benign	Het
Klk1b26	T	A	7: 44,016,249		probably null	Het
Lrp2	G	T	2: 69,481,388	T2582K	probably benign	Het
Lrriq1	A	G	10: 103,200,559	I911T	probably damaging	Het
Megf6	A	G	4: 154,267,226	E1132G	possibly damaging	Het
Mesp1	A	G	7: 79,792,921	Y203H	probably damaging	Het
Ms4a4a	T	C	19: 11,378,837	S29P	probably benign	Het
Nbeal2	A	C	9: 110,634,803	C1174G	probably benign	Het
Neb	C	T	2: 52,255,546	V2989I	probably benign	Het
Nkx2-1	T	C	12: 56,534,939	Y41C	possibly damaging	Het
Nrxn3	T	A	12: 89,260,474	I293N	probably damaging	Het
Nt5e	A	G	9: 88,355,593	N192S	probably benign	Het
Ntng1	A	T	3: 110,135,261		probably null	Het
Olfr1215	A	T	2: 89,001,472	I272K	probably damaging	Het
Olfr1229	A	T	2: 89,283,327		probably null	Het
Olfr411	A	G	11: 74,347,197	I129T	probably damaging	Het
Olfr45	G	A	7: 140,691,447	E181K	probably damaging	Het
Panx1	A	G	9: 15,010,217	Y121H	probably damaging	Het
Pcsk4	A	G	10: 80,325,381	I233T	possibly damaging	Het
Pgm3	T	A	9: 86,558,412	I409F	probably damaging	Het
Plg	T	C	17: 12,411,510	Y645H	probably benign	Het
Pon3	T	C	6: 5,221,619	H337R	probably benign	Het
Rasa2	A	G	9: 96,591,989	I162T	probably benign	Het
Ror1	A	G	4: 100,441,964	I845V	probably benign	Het
Rpl4	T	C	9: 64,174,885	V22A	probably benign	Het
Ryr3	G	T	2: 112,635,777	Q4746K	probably damaging	Het
Ryr3	T	C	2: 112,909,973	N531S	probably damaging	Het
Sbno1	A	T	5: 124,400,165	F571I	probably damaging	Het
Scarf1	T	C	11: 75,526,015	V761A	probably benign	Het
Sec22b	T	G	3: 97,921,111		probably null	Het
Slc45a2	A	G	15: 11,001,150	M112V	probably benign	Het
Snai3	G	A	8: 122,456,332	T158M	possibly damaging	Het
Spata31d1a	T	C	13: 59,703,151	N388D	probably benign	Het
Sv2b	T	C	7: 75,117,722	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810	I561K	probably benign	Het
Trappc11	A	T	8: 47,490,895	D1127E	probably benign	Het
Triobp	C	A	15: 78,967,005	A453D	probably benign	Het
Tubd1	T	C	11: 86,557,839	L295P	probably damaging	Het
Ulk4	C	T	9: 121,192,786	V620I	probably benign	Het
Vmn2r39	A	G	7: 9,023,676	I442T	probably benign	Het
Wwc1	T	C	11: 35,876,566	T413A	probably benign	Het
Zfp131	A	C	13: 119,782,913	V77G	probably damaging	Het
Zfyve26	T	C	12: 79,287,833	D137G	probably damaging	Het

Other mutations in Fbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02199:Fbp1	APN	13	62867379	missense	probably damaging	0.99
IGL02224:Fbp1	APN	13	62888007	missense	probably damaging	1.00
IGL02751:Fbp1	APN	13	62875143	splice site	probably null
IGL02887:Fbp1	APN	13	62869080	missense	probably benign
fruko	UTSW	13	62875261	missense	probably damaging	1.00
PIT4362001:Fbp1	UTSW	13	62867380	missense	probably damaging	0.99
R0400:Fbp1	UTSW	13	62865068	missense	probably benign	0.04
R0656:Fbp1	UTSW	13	62871285	missense	probably benign	0.23
R1672:Fbp1	UTSW	13	62867431	missense	probably damaging	0.98
R2420:Fbp1	UTSW	13	62871306	missense	probably benign	0.00
R2422:Fbp1	UTSW	13	62871306	missense	probably benign	0.00
R3859:Fbp1	UTSW	13	62865116	missense	probably damaging	1.00
R4474:Fbp1	UTSW	13	62875261	missense	probably damaging	1.00
R4991:Fbp1	UTSW	13	62865074	missense	probably benign	0.09
R4992:Fbp1	UTSW	13	62865074	missense	probably benign	0.09
R5656:Fbp1	UTSW	13	62875196	missense	probably damaging	0.97
R6463:Fbp1	UTSW	13	62865010	missense	possibly damaging	0.52
R7381:Fbp1	UTSW	13	62865053	missense	probably benign	0.01
R7448:Fbp1	UTSW	13	62872750	missense	possibly damaging	0.83
R8309:Fbp1	UTSW	13	62869017	missense	probably benign
R8318:Fbp1	UTSW	13	62865011	missense	probably benign	0.00

Predicted Primers

Posted On

2016-05-10