Mutagenetix > Incidental Mutation

Incidental Mutation 'R8781:Fbp1'

670270

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

068605-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.269) question?

Stock #

R8781 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63012567-63036096 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 63016831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 224 (I224L)

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: I224L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000090564
Gene: ENSMUSG00000069805
AA Change: I224L

Domain	Start	End	E-Value	Type
Pfam:FBPase	12	334	7.3e-145	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134814

SMART Domains

Protein: ENSMUSP00000115703
Gene: ENSMUSG00000069805

Domain	Start	End	E-Value	Type
Pfam:FBPase	12	57	3.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150013

SMART Domains

Protein: ENSMUSP00000117146
Gene: ENSMUSG00000069805

Domain	Start	End	E-Value	Type
Pfam:FBPase	1	71	5.3e-35	PFAM
Pfam:FBPase	70	130	2.7e-26	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

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
1810055G02Rik	A	G	19: 3,767,538 (GRCm39)	D375G	possibly damaging	Het
Abi3bp	C	T	16: 56,426,512 (GRCm39)	T509I	probably damaging	Het
Atp13a2	T	A	4: 140,723,691 (GRCm39)	C257S	probably benign	Het
Ccdc183	T	A	2: 25,502,208 (GRCm39)		probably benign	Het
Cd109	C	T	9: 78,543,929 (GRCm39)	P158S	probably damaging	Het
Cdh23	C	T	10: 60,167,567 (GRCm39)	E1810K	probably damaging	Het
Cog5	T	A	12: 31,883,249 (GRCm39)	W393R	probably damaging	Het
Cyth1	C	T	11: 118,073,069 (GRCm39)	R277Q	probably damaging	Het
Ddx54	G	T	5: 120,751,217 (GRCm39)	R6L	probably benign	Het
Dnah8	T	A	17: 30,944,078 (GRCm39)	I1765N	probably damaging	Het
Erp27	G	A	6: 136,886,458 (GRCm39)	Q192*	probably null	Het
Fam81a	T	A	9: 70,032,381 (GRCm39)	H37L	probably damaging	Het
Fbn2	A	G	18: 58,194,719 (GRCm39)	S1481P	possibly damaging	Het
Fhit	A	G	14: 10,421,503 (GRCm38)	V32A	probably damaging	Het
Gapvd1	T	A	2: 34,610,698 (GRCm39)	H495L	probably benign	Het
Gas2l3	T	C	10: 89,266,841 (GRCm39)	D33G	probably damaging	Het
Heatr5b	A	T	17: 79,102,738 (GRCm39)	D1213E	probably benign	Het
Hsf2bp	C	G	17: 32,252,241 (GRCm39)	E65Q	possibly damaging	Het
Kif28	G	T	1: 179,525,481 (GRCm39)	T937K	probably benign	Het
Klf6	T	A	13: 5,915,071 (GRCm39)	V170D	probably benign	Het
Kri1	A	T	9: 21,191,748 (GRCm39)	S283T		Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Lct	A	G	1: 128,215,261 (GRCm39)	Y1772H	probably damaging	Het
Lrrc37	T	A	11: 103,508,958 (GRCm39)	E1003D	unknown	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Or2b2b	A	G	13: 21,859,013 (GRCm39)	S34P	probably damaging	Het
Or52j3	T	A	7: 102,836,082 (GRCm39)	D91E	probably benign	Het
Or8c14-ps1	T	G	9: 38,101,385 (GRCm39)	D121E	probably damaging	Het
Parg	T	A	14: 31,936,400 (GRCm39)	D518E	probably benign	Het
Pcx	G	A	19: 4,670,980 (GRCm39)	A1095T	probably damaging	Het
Pde1b	G	A	15: 103,433,727 (GRCm39)	V342M	probably damaging	Het
Pik3r2	C	T	8: 71,222,046 (GRCm39)	G579D	possibly damaging	Het
Pknox1	G	A	17: 31,821,837 (GRCm39)		probably benign	Het
Pla2g3	C	A	11: 3,438,530 (GRCm39)	T60K	probably benign	Het
Ppfia3	C	T	7: 44,997,953 (GRCm39)	E725K	possibly damaging	Het
Ppl	C	T	16: 4,915,800 (GRCm39)	V588I	possibly damaging	Het
Sardh	T	A	2: 27,086,715 (GRCm39)	E815V	possibly damaging	Het
Scn7a	T	C	2: 66,567,775 (GRCm39)	E273G	probably benign	Het
Slc7a8	A	T	14: 54,996,996 (GRCm39)		probably benign	Het
Smg8	G	A	11: 86,971,147 (GRCm39)	P875S	possibly damaging	Het
Sncaip	T	C	18: 53,039,614 (GRCm39)	S603P	probably benign	Het
Speg	G	A	1: 75,383,665 (GRCm39)	G1218S	probably damaging	Het
Stk31	A	T	6: 49,383,709 (GRCm39)	D92V	probably damaging	Het
Suco	A	G	1: 161,645,951 (GRCm39)	V1250A	probably damaging	Het
Tas2r138	A	G	6: 40,589,850 (GRCm39)	V132A	probably benign	Het
Tcp1	T	C	17: 13,143,263 (GRCm39)	I524T	probably damaging	Het
Tenm3	CTGCTGTGAAATG	C	8: 48,795,484 (GRCm39)		probably null	Het
Tln2	C	A	9: 67,163,233 (GRCm39)	V1105L	probably damaging	Het
Tmem19	T	C	10: 115,195,563 (GRCm39)		probably benign	Het
Tmprss4	T	C	9: 45,087,740 (GRCm39)	Y283C	possibly damaging	Het
Trim29	T	A	9: 43,222,615 (GRCm39)	V148D	probably benign	Het
Trip10	C	T	17: 57,562,313 (GRCm39)	A277V	probably benign	Het
Usp12	C	A	5: 146,700,172 (GRCm39)	R61L	probably benign	Het
Vmn1r58	T	G	7: 5,413,482 (GRCm39)	L249F	probably benign	Het
Vmn2r31	C	T	7: 7,387,400 (GRCm39)	V724I	possibly damaging	Het
Vmn2r66	C	T	7: 84,644,355 (GRCm39)	W685*	probably null	Het
Vmn2r8	A	G	5: 108,945,597 (GRCm39)	I670T	possibly damaging	Het
Vmn2r91	T	A	17: 18,305,323 (GRCm39)	M2K	possibly damaging	Het
Wdr12	A	G	1: 60,126,300 (GRCm39)	W172R	probably damaging	Het
Yipf5	A	T	18: 40,340,752 (GRCm39)	V200E	possibly damaging	Het
Zfp608	T	C	18: 55,031,801 (GRCm39)	K713R	probably damaging	Het
Zfp768	A	G	7: 126,942,476 (GRCm39)	S554P	probably damaging	Het

Other mutations in Fbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- ATCTAGGGCTCCATGGTTCC -3'
(R):5'- AATGAGGCGTGGTCATGTC -3'

Sequencing Primer
(F):5'- TCTCTCCATCTCCAGGATAAAATG -3'
(R):5'- AGGCGTGGTCATGTCCCATG -3'

Posted On

2021-04-30