Mutagenetix > Incidental Mutation

Incidental Mutation 'R5656:Fbp1'

442348

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

043302-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

R5656 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62864753-62888282 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 62875196 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 96 (V96L)

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: V96L

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090564
Gene: ENSMUSG00000069805
AA Change: V96L

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 105,709,512	S139G	probably benign	Het
Adrb3	T	C	8: 27,227,377	D348G	probably damaging	Het
Atg2b	A	G	12: 105,621,328	V1959A	probably benign	Het
Bicral	G	A	17: 46,808,369	T742M	probably damaging	Het
Bub1b	T	A	2: 118,605,431	I60N	probably damaging	Het
Ccdc162	A	G	10: 41,569,934	V414A	probably benign	Het
Cd22	T	G	7: 30,869,773	Y612S	probably damaging	Het
Cd68	T	A	11: 69,664,421	I320F	probably damaging	Het
Clca3a2	A	T	3: 144,797,632	N852K	probably benign	Het
Cpa6	T	A	1: 10,329,514	H363L	probably benign	Het
Ddx18	A	T	1: 121,561,358	L320Q	probably damaging	Het
Dnah5	A	G	15: 28,421,064	D3849G	probably benign	Het
Eci1	T	A	17: 24,437,309	N164K	probably damaging	Het
Efs	T	C	14: 54,917,127	T552A	probably damaging	Het
Gtf3c1	T	A	7: 125,662,654	N1139I	probably benign	Het
Gucy1b2	T	C	14: 62,422,981	Y152C	probably damaging	Het
Gxylt1	A	T	15: 93,245,661	L362Q	probably damaging	Het
Iqcd	A	G	5: 120,605,126		probably null	Het
Klhl41	T	A	2: 69,683,532	I585N	possibly damaging	Het
Map6	A	G	7: 99,336,298	K470E	probably damaging	Het
Mast3	T	C	8: 70,786,221	T496A	probably damaging	Het
Mbd6	A	T	10: 127,285,286		probably benign	Het
Melk	A	G	4: 44,312,237	K183R	possibly damaging	Het
Mta1	T	C	12: 113,123,139	V152A	probably damaging	Het
Naa35	G	A	13: 59,622,866		probably benign	Het
Nav3	A	C	10: 109,764,633	S1378A	probably damaging	Het
Ncapd3	T	A	9: 27,051,645	D415E	possibly damaging	Het
Nlrp4f	G	A	13: 65,190,871	R651*	probably null	Het
Olfr1480	A	G	19: 13,530,380	T280A	probably benign	Het
Olfr397	T	A	11: 73,964,710	M34K	probably damaging	Het
Olfr497	A	G	7: 108,422,618	I16V	probably benign	Het
P2rx7	A	T	5: 122,673,717	R364W	probably damaging	Het
Phactr2	T	C	10: 13,388,703	D2G	probably benign	Het
Phc3	G	T	3: 30,965,866	S28R	probably damaging	Het
Ppfia1	A	T	7: 144,519,974		probably null	Het
Prdm10	C	T	9: 31,353,417	T667M	probably benign	Het
Pwwp2b	T	A	7: 139,255,971	S443T	possibly damaging	Het
Pzp	T	C	6: 128,490,072	T1113A	probably damaging	Het
Rapgef6	A	G	11: 54,636,136	E551G	possibly damaging	Het
Sec23ip	A	G	7: 128,776,784	Y774C	probably damaging	Het
Setdb2	T	C	14: 59,419,118	D266G	probably damaging	Het
Shank1	T	C	7: 44,352,886	V1343A	probably benign	Het
Slf2	T	A	19: 44,973,235	D1064E	probably benign	Het
Slu7	A	G	11: 43,443,418	K424E	probably benign	Het
Smg1	A	T	7: 118,154,664		probably benign	Het
Sptlc2	A	T	12: 87,346,761	L264Q	probably damaging	Het
Sra1	A	G	18: 36,678,407	S93P	probably damaging	Het
Sult1c1	T	C	17: 53,964,652	E169G	probably benign	Het
Sv2a	A	G	3: 96,185,572	D196G	probably damaging	Het
Tbc1d22b	A	G	17: 29,594,780	I362M	probably damaging	Het
Tenm3	T	C	8: 48,228,762	D2611G	probably damaging	Het
Tmem43	T	C	6: 91,480,708	F191L	probably benign	Het
Trbv13-2	T	A	6: 41,121,694	Y68N	probably benign	Het
Ttn	T	G	2: 76,774,654	D18312A	possibly damaging	Het
Ublcp1	A	G	11: 44,465,606	V95A	probably damaging	Het
Usp17ld	A	G	7: 103,250,840	V295A	probably damaging	Het
Vmn1r29	T	A	6: 58,308,167	L291M	possibly damaging	Het
Vsig10l	C	T	7: 43,464,151	R176*	probably null	Het
Zbtb46	A	G	2: 181,423,417		probably null	Het
Zfp644	A	G	5: 106,637,982	V233A	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
R0656:Fbp1	UTSW	13	62871285	missense	probably benign	0.23
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
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
R8309:Fbp1	UTSW	13	62869017	missense	probably benign
R8318:Fbp1	UTSW	13	62865011	missense	probably benign	0.00
R8781:Fbp1	UTSW	13	62869017	missense	probably benign
R8962:Fbp1	UTSW	13	62875253	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- TCAATGCAACCTCTGGGACTAAG -3'
(R):5'- TTCATGGTTGCTCTCATCGAGG -3'

Sequencing Primer
(F):5'- TGCAACCTCTGGGACTAAGGTAAG -3'
(R):5'- CTCTCATCGAGGCTCTGGTG -3'

Posted On

2016-11-09