Mutagenetix > Incidental Mutation

Incidental Mutation 'R8318:Fbp1'

641826

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

067855-MU

Accession Numbers

Essential gene?

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

Stock #

R8318 (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 G at 63012825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 328 (F328L)

Ref Sequence

ENSEMBL: ENSMUSP00000090564 (fasta)

Gene Model

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

AlphaFold

Q9QXD6

Predicted Effect

probably benign
Transcript: ENSMUST00000092888
AA Change: F328L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000090564
Gene: ENSMUSG00000069805
AA Change: F328L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150013
AA Change: F123L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000117146
Gene: ENSMUSG00000069805
AA Change: F123L

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: 98.9%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank1	T	C	8: 23,605,567 (GRCm39)	V1145A	probably damaging	Het
Ankrd35	G	A	3: 96,592,038 (GRCm39)	V775M	probably damaging	Het
Ankrd63	C	T	2: 118,533,721 (GRCm39)	V67M	unknown	Het
Arhgef5	T	A	6: 43,252,933 (GRCm39)		probably null	Het
Atp13a2	A	T	4: 140,734,335 (GRCm39)	Q1152H	probably benign	Het
Carmil1	A	G	13: 24,220,442 (GRCm39)	L1094P	probably benign	Het
Col7a1	G	A	9: 108,787,442 (GRCm39)	A612T	unknown	Het
Csgalnact1	T	C	8: 68,913,785 (GRCm39)	E140G	probably damaging	Het
Ddx18	G	T	1: 121,493,816 (GRCm39)	A56D	probably benign	Het
Dixdc1	T	C	9: 50,595,709 (GRCm39)		probably null	Het
Dpys	G	A	15: 39,648,061 (GRCm39)	T498I	probably benign	Het
Ear6	A	G	14: 52,091,722 (GRCm39)	I90V	probably benign	Het
Egr1	T	C	18: 34,996,663 (GRCm39)	S482P	probably damaging	Het
Ehbp1	C	T	11: 22,087,980 (GRCm39)	R393Q	probably benign	Het
Enpep	A	G	3: 129,063,986 (GRCm39)	I927T	probably damaging	Het
Ermard	C	T	17: 15,242,334 (GRCm39)	T406I	possibly damaging	Het
Etl4	T	C	2: 20,793,341 (GRCm39)	S971P	probably damaging	Het
Fan1	C	A	7: 63,999,803 (GRCm39)	V861F	probably damaging	Het
Fgd5	T	A	6: 91,964,477 (GRCm39)	F237I	probably benign	Het
Fmn1	T	C	2: 113,195,502 (GRCm39)	S401P	unknown	Het
Gabbr1	G	A	17: 37,373,435 (GRCm39)	E444K	probably benign	Het
Htr3b	C	A	9: 48,876,177 (GRCm39)		probably benign	Het
Ighv1-49	A	G	12: 115,019,051 (GRCm39)	F48S	probably damaging	Het
Kcnh4	A	G	11: 100,643,154 (GRCm39)	L371P	probably damaging	Het
Kcnk15	A	G	2: 163,700,189 (GRCm39)	T143A	probably damaging	Het
Klk1b4	T	G	7: 43,860,335 (GRCm39)	S150A	possibly damaging	Het
Krt6a	A	T	15: 101,602,682 (GRCm39)	M1K	probably null	Het
Lama2	G	A	10: 26,860,334 (GRCm39)	S3051L	probably damaging	Het
Lgals4	T	C	7: 28,533,940 (GRCm39)	M38T	probably benign	Het
Mdn1	T	C	4: 32,735,897 (GRCm39)		probably null	Het
Mindy1	A	G	3: 95,199,936 (GRCm39)	S246G	probably damaging	Het
Myo18a	A	G	11: 77,714,215 (GRCm39)	T770A	probably benign	Het
Or13d1	T	C	4: 52,971,104 (GRCm39)	V161A	probably benign	Het
Or4a81	C	T	2: 89,619,321 (GRCm39)	C125Y	possibly damaging	Het
Or4c116	T	A	2: 88,942,242 (GRCm39)	I205F	probably benign	Het
Pcdhb19	T	A	18: 37,630,999 (GRCm39)	S265T	possibly damaging	Het
Pcna	T	C	2: 132,093,348 (GRCm39)	Y133C	probably damaging	Het
Polr2b	A	G	5: 77,483,576 (GRCm39)	E684G	probably benign	Het
Pon2	T	C	6: 5,265,425 (GRCm39)	I321V	probably benign	Het
Prss54	T	A	8: 96,291,094 (GRCm39)	M169L	probably damaging	Het
Rps3	T	A	7: 99,132,938 (GRCm39)		probably benign	Het
Senp1	T	C	15: 97,962,748 (GRCm39)	D312G	probably damaging	Het
Serpina10	T	A	12: 103,583,107 (GRCm39)	T446S	possibly damaging	Het
Slc2a5	A	G	4: 150,224,115 (GRCm39)	D241G	possibly damaging	Het
Slc7a11	A	G	3: 50,372,435 (GRCm39)		probably null	Het
Tgfbrap1	G	C	1: 43,095,829 (GRCm39)	C536W	probably damaging	Het
Trip11	C	T	12: 101,879,063 (GRCm39)	G9S	unknown	Het
Zfp626	C	A	7: 27,517,670 (GRCm39)	T217K	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
R8781:Fbp1	UTSW	13	63,016,831 (GRCm39)	missense	probably benign
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'- GTGTTATACTGACACAACGCAC -3'
(R):5'- ATCTTGTTTTCCAGCTGCGG -3'

Sequencing Primer
(F):5'- CCTGATACAGTGGCATTATAGCATG -3'
(R):5'- GCTGCTGTATGAGTGCAACC -3'

Posted On

2020-07-28