Mutagenetix > Incidental Mutations

Incidental Mutation 'R0656:Fbp1'

226151

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

038841-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R0656 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

62864753-62888282 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 62871285 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 150 (E150K)

Ref Sequence

ENSEMBL: ENSMUSP00000090564 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000092888
AA Change: E150K

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000090564
Gene: ENSMUSG00000069805
AA Change: E150K

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
AA Change: E31K

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000117146
Gene: ENSMUSG00000069805
AA Change: E31K

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

0.1028

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.2%

Validation Efficiency

98% (92/94)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533K18Rik	T	A	10: 70,868,800		noncoding transcript	Het
4931409K22Rik	C	T	5: 24,549,762	V337M	possibly damaging	Het
Alox5	A	G	6: 116,423,330		probably benign	Het
Anxa11	T	A	14: 25,873,997	D203E	probably damaging	Het
Atp12a	A	T	14: 56,374,481	N371Y	probably damaging	Het
Bloc1s6	A	G	2: 122,742,623	I39M	probably benign	Het
Celsr3	A	C	9: 108,834,655	I1688L	possibly damaging	Het
Cgn	T	C	3: 94,774,894		probably benign	Het
Chd4	A	T	6: 125,102,967	I453F	probably damaging	Het
Dbnl	A	G	11: 5,797,321	T247A	probably benign	Het
Dpysl3	T	C	18: 43,438,071	E46G	possibly damaging	Het
Dsg1a	T	C	18: 20,335,892		probably benign	Het
Flnb	T	A	14: 7,927,352	L1854Q	probably damaging	Het
Gcn1l1	C	T	5: 115,589,303	T714M	probably benign	Het
Gm12216	A	T	11: 53,813,336		probably benign	Het
Gpr82	T	C	X: 13,665,590	S126P	probably benign	Het
Hmbs	T	A	9: 44,337,360	H256L	probably benign	Het
Ibsp	A	T	5: 104,310,020		probably null	Het
Ints13	A	G	6: 146,552,461	V240A	probably benign	Het
Kalrn	T	C	16: 34,032,467	D343G	probably damaging	Het
Kin	T	C	2: 10,085,720		probably benign	Het
Klhdc1	T	C	12: 69,258,030	V192A	probably benign	Het
Lpar3	T	A	3: 146,240,671	C35S	possibly damaging	Het
Lrrtm4	A	G	6: 80,021,970	I122V	possibly damaging	Het
Mfsd13a	C	T	19: 46,366,504	T40I	probably benign	Het
Mgat4c	T	C	10: 102,388,591	M222T	probably damaging	Het
Muc4	C	A	16: 32,751,670	S516Y	possibly damaging	Het
Myo1e	A	T	9: 70,367,674	Q703L	probably damaging	Het
Neb	A	G	2: 52,225,558		probably benign	Het
Necab3	T	G	2: 154,546,303	E239A	probably null	Het
Npr1	G	T	3: 90,461,369	N461K	probably benign	Het
Olfr1294	T	C	2: 111,537,627	I221V	probably damaging	Het
Pcdhb2	A	G	18: 37,295,490	Y172C	probably damaging	Het
Pcdhb7	A	G	18: 37,341,901	D30G	probably benign	Het
Phf12	A	C	11: 78,029,332	Q898P	probably benign	Het
Plekhn1	T	C	4: 156,225,364	E132G	possibly damaging	Het
Ptpn3	A	G	4: 57,270,075	V29A	probably benign	Het
Rundc3b	T	A	5: 8,569,529	I143F	probably damaging	Het
Ryr3	T	G	2: 112,648,306		probably benign	Het
Sash1	A	G	10: 8,751,137		probably null	Het
Slc4a2	A	G	5: 24,431,259	D201G	probably benign	Het
Tecpr1	T	A	5: 144,214,053		probably null	Het
Timm21	T	C	18: 84,949,201	H150R	probably damaging	Het
Tmem79	T	C	3: 88,332,934	T236A	probably damaging	Het
Usp34	G	T	11: 23,472,967	V3095F	probably damaging	Het
Vmn1r8	A	T	6: 57,036,588	Q208L	probably benign	Het

Other mutations in Fbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02199:Fbp1	APN	13	62867379	missense	probably damaging	0.99
IGL02224:Fbp1	APN	13	62888007	missense	probably damaging	1.00
IGL02751:Fbp1	APN	13	62875143	splice site	probably null
IGL02887:Fbp1	APN	13	62869080	missense	probably benign
fruko	UTSW	13	62875261	missense	probably damaging	1.00
PIT4362001:Fbp1	UTSW	13	62867380	missense	probably damaging	0.99
R0400:Fbp1	UTSW	13	62865068	missense	probably benign	0.04
R1672:Fbp1	UTSW	13	62867431	missense	probably damaging	0.98
R2420:Fbp1	UTSW	13	62871306	missense	probably benign	0.00
R2422:Fbp1	UTSW	13	62871306	missense	probably benign	0.00
R3859:Fbp1	UTSW	13	62865116	missense	probably damaging	1.00
R4474:Fbp1	UTSW	13	62875261	missense	probably damaging	1.00
R4990:Fbp1	UTSW	13	62865074	missense	probably benign	0.09
R4991:Fbp1	UTSW	13	62865074	missense	probably benign	0.09
R4992:Fbp1	UTSW	13	62865074	missense	probably benign	0.09
R5656:Fbp1	UTSW	13	62875196	missense	probably damaging	0.97
R6463:Fbp1	UTSW	13	62865010	missense	possibly damaging	0.52
R7381:Fbp1	UTSW	13	62865053	missense	probably benign	0.01
R7448:Fbp1	UTSW	13	62872750	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TTGTCACGCCCCAAGCAATCTC -3'
(R):5'- TCCGTGAAAACAGTGGGTTCCACC -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- ttacaacaggaggaagagtacag -3'

Posted On

2014-09-17