Mutagenetix > Incidental Mutation

Incidental Mutation 'R9605:Fbp1'

726456

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

Accession Numbers

Essential gene?

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

Stock #

R9605 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63012567-63036096 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 63019023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 175 (V175G)

Ref Sequence

ENSEMBL: ENSMUSP00000090564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092888] [ENSMUST00000134814] [ENSMUST00000150013]

AlphaFold

Q9QXD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000092888
AA Change: V175G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090564
Gene: ENSMUSG00000069805
AA Change: V175G

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

unknown
Transcript: ENSMUST00000150013
AA Change: V56G

SMART Domains

Protein: ENSMUSP00000117146
Gene: ENSMUSG00000069805
AA Change: V56G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,872,380 (GRCm39)	V103I	possibly damaging	Het
Aatk	T	C	11: 119,902,209 (GRCm39)	E729G	possibly damaging	Het
Acaa2	A	G	18: 74,932,230 (GRCm39)	T290A	probably benign	Het
Acaca	C	T	11: 84,183,842 (GRCm39)	T1240I	probably benign	Het
Adgre1	A	G	17: 57,718,083 (GRCm39)	N365S	probably benign	Het
Adipor1	A	G	1: 134,352,553 (GRCm39)	D108G	probably damaging	Het
Aebp2	A	G	6: 140,593,736 (GRCm39)	Q462R	probably damaging	Het
Afg2a	C	T	3: 37,505,930 (GRCm39)	P670S	probably damaging	Het
Arhgef4	A	G	1: 34,761,745 (GRCm39)	T334A	unknown	Het
Art5	T	C	7: 101,746,412 (GRCm39)	E280G	probably benign	Het
Bloc1s3	A	G	7: 19,241,457 (GRCm39)	S24P	possibly damaging	Het
C2	T	A	17: 35,081,958 (GRCm39)	N720I	possibly damaging	Het
Caprin2	T	C	6: 148,744,332 (GRCm39)	D1031G	probably damaging	Het
Catsper1	A	G	19: 5,387,785 (GRCm39)	T355A	probably benign	Het
Cd19	T	A	7: 126,010,057 (GRCm39)	E398D	possibly damaging	Het
Cdca8	T	C	4: 124,830,384 (GRCm39)	E31G	probably damaging	Het
Ceacam5	G	A	7: 17,493,520 (GRCm39)	V848M	probably damaging	Het
Chd8	A	T	14: 52,457,055 (GRCm39)	L971Q	probably damaging	Het
Ciao1	G	A	2: 127,087,684 (GRCm39)	T217I	probably damaging	Het
Cldn1	A	T	16: 26,181,924 (GRCm39)	I95N	probably damaging	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Cluh	C	T	11: 74,558,772 (GRCm39)	R1253C	possibly damaging	Het
Cngb3	A	T	4: 19,505,187 (GRCm39)	Q640L	probably benign	Het
Cspg4b	T	C	13: 113,456,503 (GRCm39)	S850P		Het
Cyp2c40	A	T	19: 39,766,443 (GRCm39)	V384D	probably damaging	Het
Cyp2d26	T	A	15: 82,674,672 (GRCm39)	M437L	probably benign	Het
D430041D05Rik	A	G	2: 104,087,189 (GRCm39)	S596P	probably benign	Het
Dagla	A	T	19: 10,233,053 (GRCm39)	V448D	probably damaging	Het
Ddx59	A	T	1: 136,344,594 (GRCm39)	E88D	probably benign	Het
Dock1	T	A	7: 134,384,141 (GRCm39)	F671I	possibly damaging	Het
Dtna	T	A	18: 23,764,454 (GRCm39)	V541D	probably damaging	Het
Eef2k	T	C	7: 120,491,170 (GRCm39)	F552S	probably damaging	Het
Erbb2	T	C	11: 98,311,746 (GRCm39)	V94A	possibly damaging	Het
Etl4	A	T	2: 20,771,345 (GRCm39)	I607F	possibly damaging	Het
Ets2	G	T	16: 95,516,121 (GRCm39)	E234*	probably null	Het
Fmn2	C	T	1: 174,436,194 (GRCm39)	Q722*	probably null	Het
Fnip1	G	T	11: 54,381,713 (GRCm39)	R288L	probably benign	Het
Ghr	G	A	15: 3,362,993 (GRCm39)	P160S	probably damaging	Het
Glipr1	A	G	10: 111,832,801 (GRCm39)	S46P	probably damaging	Het
Kif19b	A	T	5: 140,455,461 (GRCm39)	T356S	probably benign	Het
Kif9	G	A	9: 110,346,710 (GRCm39)	R616H	probably benign	Het
Krt87	G	T	15: 101,336,484 (GRCm39)	C56*	probably null	Het
Ldlr	A	G	9: 21,646,626 (GRCm39)	D264G	probably damaging	Het
Lrrk2	A	T	15: 91,621,420 (GRCm39)	D998V	probably benign	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mrc1	A	G	2: 14,324,110 (GRCm39)	N1149S	probably benign	Het
Myo1c	T	A	11: 75,559,899 (GRCm39)	V661E	probably benign	Het
N4bp2	T	C	5: 65,963,879 (GRCm39)	S643P	probably benign	Het
Nbl1	T	A	4: 138,812,608 (GRCm39)	T75S	probably benign	Het
Ndn	C	T	7: 61,998,337 (GRCm39)	P61L	possibly damaging	Het
Nqo2	T	A	13: 34,156,361 (GRCm39)	V25E	possibly damaging	Het
Oma1	G	T	4: 103,210,726 (GRCm39)	V411L	possibly damaging	Het
Or12e13	T	G	2: 87,663,478 (GRCm39)	F32V	probably benign	Het
Or5v1	T	A	17: 37,810,331 (GRCm39)	I263N	probably damaging	Het
Or8b12i	A	G	9: 20,082,093 (GRCm39)	V258A	probably damaging	Het
Osgin2	G	T	4: 15,998,427 (GRCm39)	H398Q	probably damaging	Het
Pepd	A	C	7: 34,743,218 (GRCm39)	D419A	probably benign	Het
Pikfyve	A	T	1: 65,303,561 (GRCm39)	S1694C	probably benign	Het
Pirb	G	A	7: 3,720,617 (GRCm39)	R294C	possibly damaging	Het
Plec	A	T	15: 76,065,213 (GRCm39)	L1619Q	unknown	Het
Polq	A	G	16: 36,843,173 (GRCm39)	I236V	probably benign	Het
Pphln1-ps1	A	G	16: 13,495,087 (GRCm39)	D62G	probably benign	Het
Prkag3	T	G	1: 74,786,378 (GRCm39)	Q189P	probably damaging	Het
Prkcg	A	T	7: 3,359,360 (GRCm39)	M136L	probably benign	Het
Ptprn2	T	C	12: 117,125,278 (GRCm39)	L604P	probably benign	Het
Rab6b	A	T	9: 103,017,601 (GRCm39)	T31S	probably benign	Het
Rnf213	A	G	11: 119,359,879 (GRCm39)	N4424S		Het
Ryr3	A	T	2: 112,491,966 (GRCm39)	L3795Q	probably damaging	Het
Scg2	A	G	1: 79,412,936 (GRCm39)	Y556H	probably damaging	Het
Serpina3j	A	G	12: 104,286,093 (GRCm39)	N416S	probably damaging	Het
Sik3	T	A	9: 46,120,117 (GRCm39)	H735Q	probably benign	Het
Slain1	A	C	14: 103,902,112 (GRCm39)	T60P		Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc46a2	A	T	4: 59,914,056 (GRCm39)	V289E	probably damaging	Het
Sorcs3	A	T	19: 48,711,364 (GRCm39)	Y643F	probably damaging	Het
Sox30	A	G	11: 45,875,640 (GRCm39)	N464S	possibly damaging	Het
Spta1	A	G	1: 174,035,880 (GRCm39)	Y1062C	probably damaging	Het
Srrm3	A	G	5: 135,881,105 (GRCm39)	D135G	probably damaging	Het
Stat5b	T	A	11: 100,699,276 (GRCm39)	H25L	possibly damaging	Het
Synj2	A	G	17: 6,063,794 (GRCm39)	I513V	probably benign	Het
Syt11	T	A	3: 88,669,325 (GRCm39)	Q189L	probably benign	Het
Tbc1d1	G	A	5: 64,443,350 (GRCm39)	R523Q	probably damaging	Het
Traf3ip2	T	A	10: 39,521,772 (GRCm39)	D443E	probably benign	Het
Traf6	G	T	2: 101,524,625 (GRCm39)	C235F	probably damaging	Het
Treh	A	G	9: 44,592,416 (GRCm39)	D47G	probably damaging	Het
Trpc4	C	A	3: 54,225,550 (GRCm39)	H966Q	probably benign	Het
Ttbk1	A	T	17: 46,784,516 (GRCm39)	D316E	possibly damaging	Het
Txndc16	A	T	14: 45,442,799 (GRCm39)	F132Y	probably damaging	Het
Uggt1	A	T	1: 36,273,886 (GRCm39)		probably null	Het
Usp25	A	T	16: 76,874,046 (GRCm39)	I541F	probably damaging	Het
Xirp1	A	T	9: 119,847,274 (GRCm39)	D536E	possibly damaging	Het
Zfp51	A	G	17: 21,684,291 (GRCm39)	E302G	probably damaging	Het
Zfp648	A	T	1: 154,080,110 (GRCm39)	T90S	probably benign	Het
Zfp84	A	G	7: 29,476,264 (GRCm39)	T319A	possibly 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
R8781:Fbp1	UTSW	13	63,016,831 (GRCm39)	missense	probably benign
R8962:Fbp1	UTSW	13	63,023,067 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- AATCTCTCACCATGCTGTGC -3'
(R):5'- ATCCTGTGGATGGCTGAAC -3'

Sequencing Primer
(F):5'- GTTAGAGAGATAGTTCAGCACTTGC -3'
(R):5'- CTGAACTGGGAAAAAGGACCAC -3'

Posted On

2022-10-06