Mutagenetix > Incidental Mutation

Incidental Mutation 'R8962:Fbp1'

682420

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

068796-MU

Accession Numbers

Essential gene?

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

Stock #

R8962 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63012567-63036096 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 63023067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 77 (L77F)

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: L77F

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000090564
Gene: ENSMUSG00000069805
AA Change: L77F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

99% (86/87)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,220,173 (GRCm39)	M120L	probably benign	Het
Abat	A	G	16: 8,396,166 (GRCm39)	T48A	probably damaging	Het
Abca8a	A	T	11: 109,969,634 (GRCm39)	I314N	probably damaging	Het
Abr	A	T	11: 76,352,155 (GRCm39)	V108D	probably damaging	Het
Adamts17	T	G	7: 66,725,057 (GRCm39)	L162V	probably damaging	Het
Adamts6	A	T	13: 104,433,899 (GRCm39)	K109N	probably damaging	Het
Ago3	A	G	4: 126,241,595 (GRCm39)	F68S	probably damaging	Het
Aifm3	T	C	16: 17,324,200 (GRCm39)		probably null	Het
Ankrd26	T	C	6: 118,512,104 (GRCm39)	E506G	probably benign	Het
Apaf1	A	G	10: 90,903,066 (GRCm39)	L185P	probably damaging	Het
Atp8b3	G	T	10: 80,355,896 (GRCm39)	T1272K	probably benign	Het
Cars2	A	G	8: 11,587,304 (GRCm39)	V193A	probably benign	Het
Ccn5	C	T	2: 163,667,160 (GRCm39)	R54*	probably null	Het
Ccr8	A	T	9: 119,923,613 (GRCm39)	I243F	possibly damaging	Het
Col12a1	A	G	9: 79,538,901 (GRCm39)	V2465A	probably damaging	Het
Ctbp1	T	C	5: 33,416,616 (GRCm39)	N127S	probably benign	Het
Ddx10	A	G	9: 53,149,377 (GRCm39)	S117P	probably damaging	Het
Dgkb	T	C	12: 38,189,494 (GRCm39)		probably null	Het
Dnah11	T	A	12: 117,916,273 (GRCm39)	D3520V	probably damaging	Het
Dnah11	C	T	12: 117,918,630 (GRCm39)	D1530N	probably damaging	Het
Dock5	T	C	14: 67,994,640 (GRCm39)	T1807A	probably benign	Het
Drd3	C	T	16: 43,641,842 (GRCm39)	T386I	probably damaging	Het
Dsg1b	A	G	18: 20,542,316 (GRCm39)	N941S	probably damaging	Het
Enpp3	T	C	10: 24,696,513 (GRCm39)	T141A	probably benign	Het
Esyt1	A	T	10: 128,356,566 (GRCm39)	C360S	possibly damaging	Het
Ethe1	T	A	7: 24,305,682 (GRCm39)	V143D	probably damaging	Het
Fam170b	A	G	14: 32,557,336 (GRCm39)	D57G	probably benign	Het
Fam53c	T	C	18: 34,901,229 (GRCm39)	S49P	probably damaging	Het
Gm17093	A	G	14: 44,758,149 (GRCm39)	E110G		Het
Gm21976	G	T	13: 98,423,821 (GRCm39)		silent	Het
Golgb1	T	C	16: 36,733,978 (GRCm39)	I1075T	probably damaging	Het
Grip2	T	C	6: 91,754,391 (GRCm39)	D628G	probably damaging	Het
Gtpbp1	G	T	15: 79,601,929 (GRCm39)	L557F	probably benign	Het
Ighv12-3	A	T	12: 114,330,204 (GRCm39)	F97Y	probably benign	Het
Itga8	T	C	2: 12,196,045 (GRCm39)	H635R	possibly damaging	Het
Itgb7	A	G	15: 102,127,037 (GRCm39)	L466S	probably damaging	Het
Klc2	T	C	19: 5,161,864 (GRCm39)	D277G	probably benign	Het
Ktn1	A	G	14: 47,901,248 (GRCm39)	E2G	probably damaging	Het
Lcmt1	T	A	7: 123,000,669 (GRCm39)	Y68N	probably damaging	Het
Marchf10	G	T	11: 105,280,815 (GRCm39)	S490*	probably null	Het
Mterf1b	A	T	5: 4,246,437 (GRCm39)	Y26F	probably benign	Het
Myo18b	T	A	5: 113,006,346 (GRCm39)	I855F	probably benign	Het
Nek4	G	A	14: 30,675,915 (GRCm39)	M83I	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	T	C	5: 118,017,405 (GRCm39)	V256A	probably benign	Het
Nr1h2	T	C	7: 44,201,463 (GRCm39)	T50A	probably benign	Het
Or14c42-ps1	T	A	7: 86,211,317 (GRCm39)	*126K	probably null	Het
Or4n4	A	C	14: 50,518,816 (GRCm39)	M298R	possibly damaging	Het
Ovol2	G	C	2: 144,147,834 (GRCm39)	R172G	probably damaging	Het
Parp14	A	G	16: 35,677,187 (GRCm39)	I927T	probably damaging	Het
Pcdhga7	T	A	18: 37,848,879 (GRCm39)	H295Q	probably benign	Het
Pkhd1l1	C	T	15: 44,400,291 (GRCm39)	T2145I	probably damaging	Het
Plekhs1	C	T	19: 56,461,680 (GRCm39)	T139I	possibly damaging	Het
Rab11fip3	T	A	17: 26,231,007 (GRCm39)	D746V	probably damaging	Het
Rnf214	A	C	9: 45,809,728 (GRCm39)		probably null	Het
Rtn4ip1	A	T	10: 43,822,415 (GRCm39)		probably null	Het
S1pr1	T	C	3: 115,505,569 (GRCm39)	R342G		Het
Serpina1f	T	C	12: 103,656,131 (GRCm39)	S366G	probably benign	Het
Sestd1	A	T	2: 77,042,708 (GRCm39)	M282K	probably benign	Het
Siglecf	T	G	7: 43,001,140 (GRCm39)	V36G	probably damaging	Het
Slc1a1	T	C	19: 28,886,869 (GRCm39)	V410A	probably damaging	Het
Slc38a4	C	A	15: 96,917,684 (GRCm39)	D14Y	probably benign	Het
Slk	C	T	19: 47,610,748 (GRCm39)	T806M	probably damaging	Het
Slurp2	C	A	15: 74,615,249 (GRCm39)	V48F	possibly damaging	Het
Socs1	A	G	16: 10,602,642 (GRCm39)	S32P	possibly damaging	Het
Son	T	C	16: 91,455,057 (GRCm39)	V1268A	possibly damaging	Het
Sp7	C	A	15: 102,274,880 (GRCm39)		probably benign	Het
Speer4a2	T	G	5: 26,290,745 (GRCm39)	E142A	probably benign	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Tet2	T	C	3: 133,193,804 (GRCm39)	N210S	probably benign	Het
Tkfc	T	C	19: 10,570,700 (GRCm39)	D492G	probably damaging	Het
Tmc7	G	A	7: 118,160,228 (GRCm39)	P203L	probably benign	Het
Trmt9b	A	G	8: 36,972,729 (GRCm39)	K60E	probably damaging	Het
Tshz2	C	A	2: 169,726,524 (GRCm39)	F373L	probably damaging	Het
Ttc29	T	A	8: 79,042,336 (GRCm39)	L307Q	probably damaging	Het
Tubd1	G	A	11: 86,439,659 (GRCm39)	M1I	probably null	Het
Vmn1r62	T	A	7: 5,678,601 (GRCm39)	M94K	probably damaging	Het
Vmn2r125	T	C	4: 156,703,186 (GRCm39)	I188T	possibly damaging	Het
Vmn2r5	T	C	3: 64,398,564 (GRCm39)	D805G	probably damaging	Het
Vmn2r6	A	T	3: 64,463,576 (GRCm39)	D419E	probably damaging	Het
Vps39	A	T	2: 120,174,687 (GRCm39)	Y98*	probably null	Het
Zdbf2	G	A	1: 63,347,162 (GRCm39)	G1847D	probably benign	Het
Zdhhc6	T	C	19: 55,287,239 (GRCm39)	E407G	probably benign	Het
Zfp407	A	G	18: 84,577,057 (GRCm39)	I1352T	probably damaging	Het
Zfp607a	A	G	7: 27,578,786 (GRCm39)	K619E	possibly damaging	Het
Zfp811	A	T	17: 33,017,622 (GRCm39)	N139K	probably benign	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
R9605:Fbp1	UTSW	13	63,019,023 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATCTTCCATGAAGCTGAGAAGG -3'
(R):5'- GAGCTTTCCAAACAGTGTCTC -3'

Sequencing Primer
(F):5'- CTTCCATGAAGCTGAGAAGGAAAATG -3'
(R):5'- GCAAGTCCACCCTCCGTTG -3'

Posted On

2021-08-31