Mutagenetix > Incidental Mutation

Incidental Mutation 'R4991:Fbp1'

386215

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

042585-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.293) question?

Stock #

R4991 (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 (GRCm38)

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

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: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.0%

Validation Efficiency

95% (73/77)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	G	T	14: 55,773,465 (GRCm38)	T665K	probably benign	Het
Adgrf3	C	T	5: 30,199,148 (GRCm38)	V369M	probably benign	Het
Als2	T	C	1: 59,207,768 (GRCm38)	K571E	probably benign	Het
Amer3	A	C	1: 34,588,741 (GRCm38)	D687A	probably benign	Het
Asb14	T	C	14: 26,915,058 (GRCm38)	S586P	probably damaging	Het
Chmp4b	A	G	2: 154,692,625 (GRCm38)	E187G	probably benign	Het
Cox6b2	T	C	7: 4,752,161 (GRCm38)	D38G	probably damaging	Het
Cpm	G	A	10: 117,668,103 (GRCm38)	C138Y	probably damaging	Het
Csmd3	G	T	15: 48,001,478 (GRCm38)	P785Q	probably damaging	Het
Cstf1	A	G	2: 172,377,800 (GRCm38)	Y277C	probably damaging	Het
Cstf2t	T	A	19: 31,084,583 (GRCm38)	N506K	probably damaging	Het
Dmpk	C	G	7: 19,088,019 (GRCm38)	L301V	probably benign	Het
Ebf2	A	T	14: 67,389,657 (GRCm38)	T265S	possibly damaging	Het
Elmo1	T	C	13: 20,342,519 (GRCm38)	F413S	probably damaging	Het
Gm13212	C	A	4: 145,622,334 (GRCm38)	Q114K	probably benign	Het
Gm14548	T	G	7: 3,895,572 (GRCm38)	Q292H	probably benign	Het
Gm16432	A	C	1: 178,098,421 (GRCm38)	I218L	probably benign	Het
Gm19684	A	G	17: 36,127,472 (GRCm38)		probably benign	Het
Gm29106	T	C	1: 118,178,391 (GRCm38)	M37T	probably benign	Het
Grem2	A	G	1: 174,836,813 (GRCm38)	C157R	probably damaging	Het
Hdac5	T	A	11: 102,205,624 (GRCm38)	E252D	probably damaging	Het
Ifitm3	A	T	7: 141,010,459 (GRCm38)	F63I	probably damaging	Het
Igkv4-80	A	C	6: 69,016,665 (GRCm38)	S81A	probably benign	Het
Irx4	G	T	13: 73,265,507 (GRCm38)	R32L	probably benign	Het
Itgb1bp1	C	T	12: 21,274,848 (GRCm38)	G69D	probably damaging	Het
Kcnh3	A	G	15: 99,232,756 (GRCm38)	D418G	probably benign	Het
Kif1a	T	C	1: 93,078,808 (GRCm38)	T46A	probably benign	Het
Klk1b26	T	A	7: 44,016,249 (GRCm38)		probably null	Het
Lca5l	T	C	16: 96,159,732 (GRCm38)	E510G	possibly damaging	Het
Lrriq1	A	G	10: 103,200,559 (GRCm38)	I911T	probably damaging	Het
Mios	T	G	6: 8,215,847 (GRCm38)	S348A	probably benign	Het
Mog	T	C	17: 37,017,489 (GRCm38)		probably null	Het
Mtmr7	A	G	8: 40,554,345 (GRCm38)	S516P	probably damaging	Het
Nat8f4	T	C	6: 85,901,140 (GRCm38)	K134E	probably benign	Het
Nbeal2	C	T	9: 110,638,767 (GRCm38)	C451Y	probably damaging	Het
Nkx2-1	T	C	12: 56,534,939 (GRCm38)	Y41C	possibly damaging	Het
Nmnat1	G	A	4: 149,469,127 (GRCm38)	T176M	possibly damaging	Het
Nrxn3	T	A	12: 89,260,474 (GRCm38)	I293N	probably damaging	Het
Olfr1031	A	G	2: 85,992,287 (GRCm38)	M157V	probably damaging	Het
Olfr1447	T	G	19: 12,901,451 (GRCm38)	T110P	probably damaging	Het
Olfr313	T	C	11: 58,817,718 (GRCm38)	S237P	probably damaging	Het
Osgin1	A	G	8: 119,445,289 (GRCm38)	E274G	probably damaging	Het
Otof	G	A	5: 30,394,181 (GRCm38)	R343W	probably damaging	Het
Pcdha9	A	T	18: 36,998,345 (GRCm38)	I156F	probably damaging	Het
Pcsk4	A	G	10: 80,325,381 (GRCm38)	I233T	possibly damaging	Het
Samd4	A	T	14: 47,074,010 (GRCm38)	S262C	probably damaging	Het
Snap91	T	C	9: 86,790,154 (GRCm38)		probably null	Het
Spata31d1a	T	C	13: 59,703,151 (GRCm38)	N388D	probably benign	Het
St3gal4	A	G	9: 35,053,136 (GRCm38)	V190A	possibly damaging	Het
Sv2b	T	C	7: 75,117,722 (GRCm38)	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810 (GRCm38)	I561K	probably benign	Het
Tmem201	A	T	4: 149,728,155 (GRCm38)	Y235N	possibly damaging	Het
Tpx2	T	C	2: 152,869,724 (GRCm38)	S60P	probably benign	Het
Trpa1	T	C	1: 14,910,746 (GRCm38)	Y144C	probably benign	Het
U90926	G	A	5: 92,210,020 (GRCm38)	P91S	probably benign	Het
Utp20	G	T	10: 88,746,934 (GRCm38)	H2780Q	probably benign	Het
Vmn1r215	T	G	13: 23,076,527 (GRCm38)	F246V	probably damaging	Het
Vmn2r72	A	G	7: 85,751,130 (GRCm38)	L237S	probably damaging	Het
Washc5	A	G	15: 59,344,080 (GRCm38)	S817P	probably damaging	Het
Zbtb24	A	G	10: 41,456,618 (GRCm38)		probably null	Het
Zfp212	G	A	6: 47,926,862 (GRCm38)	R127H	probably damaging	Het
Zfp740	G	T	15: 102,208,279 (GRCm38)		probably null	Het

Other mutations in Fbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02199:Fbp1	APN	13	62,867,379 (GRCm38)	missense	probably damaging	0.99
IGL02224:Fbp1	APN	13	62,888,007 (GRCm38)	missense	probably damaging	1.00
IGL02751:Fbp1	APN	13	62,875,143 (GRCm38)	splice site	probably null
IGL02887:Fbp1	APN	13	62,869,080 (GRCm38)	missense	probably benign
fruko	UTSW	13	62,875,261 (GRCm38)	missense	probably damaging	1.00
PIT4362001:Fbp1	UTSW	13	62,867,380 (GRCm38)	missense	probably damaging	0.99
R0400:Fbp1	UTSW	13	62,865,068 (GRCm38)	missense	probably benign	0.04
R0656:Fbp1	UTSW	13	62,871,285 (GRCm38)	missense	probably benign	0.23
R1672:Fbp1	UTSW	13	62,867,431 (GRCm38)	missense	probably damaging	0.98
R2420:Fbp1	UTSW	13	62,871,306 (GRCm38)	missense	probably benign	0.00
R2422:Fbp1	UTSW	13	62,871,306 (GRCm38)	missense	probably benign	0.00
R3859:Fbp1	UTSW	13	62,865,116 (GRCm38)	missense	probably damaging	1.00
R4474:Fbp1	UTSW	13	62,875,261 (GRCm38)	missense	probably damaging	1.00
R4990:Fbp1	UTSW	13	62,865,074 (GRCm38)	missense	probably benign	0.09
R4992:Fbp1	UTSW	13	62,865,074 (GRCm38)	missense	probably benign	0.09
R5656:Fbp1	UTSW	13	62,875,196 (GRCm38)	missense	probably damaging	0.97
R6463:Fbp1	UTSW	13	62,865,010 (GRCm38)	missense	possibly damaging	0.52
R7381:Fbp1	UTSW	13	62,865,053 (GRCm38)	missense	probably benign	0.01
R7448:Fbp1	UTSW	13	62,872,750 (GRCm38)	missense	possibly damaging	0.83
R8309:Fbp1	UTSW	13	62,869,017 (GRCm38)	missense	probably benign
R8318:Fbp1	UTSW	13	62,865,011 (GRCm38)	missense	probably benign	0.00
R8781:Fbp1	UTSW	13	62,869,017 (GRCm38)	missense	probably benign
R8962:Fbp1	UTSW	13	62,875,253 (GRCm38)	missense	probably benign	0.37
R9605:Fbp1	UTSW	13	62,871,209 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

Posted On

2016-05-10