Mutagenetix > Incidental Mutation

Incidental Mutation 'R7862:Fh1'

607557

Institutional Source

Beutler Lab

Gene Symbol

Fh1

Ensembl Gene

ENSMUSG00000026526

Gene Name

fumarate hydratase 1

Synonyms

fumarase

MMRRC Submission

045915-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7862 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

175428944-175453201 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 175442400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 150 (V150E)

Ref Sequence

ENSEMBL: ENSMUSP00000027810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027810] [ENSMUST00000154956]

AlphaFold

P97807

Predicted Effect

probably damaging
Transcript: ENSMUST00000027810
AA Change: V150E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027810
Gene: ENSMUSG00000026526
AA Change: V150E

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
Pfam:Lyase_1	55	386	1.8e-124	PFAM
Pfam:FumaraseC_C	452	505	2.5e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154956

SMART Domains

Protein: ENSMUSP00000135140
Gene: ENSMUSG00000026526

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC

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.] The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele fail to develop past the egg-cylinder stage and die at E6.0. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	C	3: 145,649,624 (GRCm39)	*181S	probably null	Het
Abcc10	G	T	17: 46,626,458 (GRCm39)	S661*	probably null	Het
Abtb2	C	T	2: 103,532,626 (GRCm39)	R475W	probably damaging	Het
Cep97	T	C	16: 55,726,084 (GRCm39)	D673G	probably benign	Het
Chaf1b	T	C	16: 93,684,983 (GRCm39)	M144T	possibly damaging	Het
Chd8	T	C	14: 52,451,734 (GRCm39)	D1372G	probably damaging	Het
Chmp6	G	A	11: 119,807,836 (GRCm39)		probably null	Het
Cst12	T	C	2: 148,631,495 (GRCm39)	V72A	probably damaging	Het
D1Pas1	G	A	1: 186,700,349 (GRCm39)	G93R	probably damaging	Het
Dhx34	C	A	7: 15,944,448 (GRCm39)	V589F	probably damaging	Het
Dlg5	G	A	14: 24,295,280 (GRCm39)	P80L	probably damaging	Het
Dmrta1	C	A	4: 89,576,561 (GRCm39)	H6N	probably benign	Het
Dop1b	T	C	16: 93,546,851 (GRCm39)	L285P	probably damaging	Het
Dpy19l1	T	C	9: 24,386,730 (GRCm39)	Y188C	probably damaging	Het
Ehbp1l1	C	T	19: 5,770,851 (GRCm39)	R230Q	probably benign	Het
Ep300	T	G	15: 81,534,954 (GRCm39)	V2337G	probably damaging	Het
Fkbp11	G	A	15: 98,624,389 (GRCm39)	R122*	probably null	Het
Fkbp5	C	T	17: 28,631,013 (GRCm39)	E251K	probably damaging	Het
Fmnl1	A	G	11: 103,071,756 (GRCm39)	K88E	probably damaging	Het
Frrs1	T	C	3: 116,685,529 (GRCm39)	V300A	possibly damaging	Het
Glud1	T	G	14: 34,047,479 (GRCm39)	L198V	possibly damaging	Het
Gsdmc	A	T	15: 63,649,845 (GRCm39)	W349R	possibly damaging	Het
Hacd1	T	C	2: 14,050,013 (GRCm39)	H64R	probably damaging	Het
Haus2	T	A	2: 120,443,570 (GRCm39)	D75E	probably benign	Het
Hmcn1	A	T	1: 150,682,172 (GRCm39)	F459L	probably damaging	Het
Ighe	A	T	12: 113,235,428 (GRCm39)	V272E		Het
Iqgap1	C	T	7: 80,393,636 (GRCm39)	R647H	probably benign	Het
Jmy	T	C	13: 93,635,703 (GRCm39)	I38V	possibly damaging	Het
Kcnh1	G	T	1: 191,873,167 (GRCm39)		probably benign	Het
Kctd20	C	T	17: 29,181,849 (GRCm39)	A167V	probably damaging	Het
Klhl38	A	T	15: 58,178,395 (GRCm39)	V525E	probably damaging	Het
Krit1	A	G	5: 3,862,788 (GRCm39)	D259G	probably damaging	Het
Med1	A	T	11: 98,052,036 (GRCm39)	C443S	probably benign	Het
Mllt6	T	C	11: 97,556,631 (GRCm39)	V107A	probably benign	Het
Myl7	A	G	11: 5,847,157 (GRCm39)	M132T	probably benign	Het
Myo10	T	C	15: 25,666,522 (GRCm39)	V11A	probably damaging	Het
Nipbl	T	C	15: 8,355,236 (GRCm39)	I1642V	probably benign	Het
Or4a47	T	C	2: 89,665,468 (GRCm39)	T274A	probably benign	Het
Or6c214	T	C	10: 129,591,224 (GRCm39)	T32A	probably benign	Het
Or7g25	C	A	9: 19,160,736 (GRCm39)		probably benign	Het
Or8b3b	C	T	9: 38,584,624 (GRCm39)	V39M	probably benign	Het
Pcdhb2	C	T	18: 37,429,113 (GRCm39)	A362V	probably benign	Het
Pnp2	A	T	14: 51,201,016 (GRCm39)	D167V	possibly damaging	Het
Rasa1	G	A	13: 85,403,530 (GRCm39)	T282I	probably damaging	Het
Rp1l1	A	G	14: 64,265,476 (GRCm39)	D354G	probably damaging	Het
Rpap1	C	T	2: 119,605,893 (GRCm39)		probably null	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Shank3	A	G	15: 89,389,648 (GRCm39)	D415G	possibly damaging	Het
Slc12a1	A	G	2: 125,003,014 (GRCm39)	I182V	probably damaging	Het
Slc6a13	A	G	6: 121,312,589 (GRCm39)	Y441C	probably damaging	Het
Sltm	G	T	9: 70,479,446 (GRCm39)	E193*	probably null	Het
Spag9	T	C	11: 94,002,892 (GRCm39)	I1134T	possibly damaging	Het
Spta1	G	A	1: 174,025,351 (GRCm39)		probably null	Het
Stk3	A	G	15: 35,115,732 (GRCm39)	V29A	possibly damaging	Het
Tgfbr1	A	T	4: 47,403,489 (GRCm39)	I365F	probably damaging	Het
Thpo	C	T	16: 20,547,540 (GRCm39)	V24I	probably benign	Het
Tle1	A	C	4: 72,117,552 (GRCm39)	L36R	probably damaging	Het
Togaram2	T	C	17: 71,996,168 (GRCm39)	V57A	probably benign	Het
Ttll9	C	T	2: 152,848,895 (GRCm39)	A459V	probably benign	Het
Ush1c	T	C	7: 45,870,848 (GRCm39)	I330V	probably damaging	Het
Usp34	T	C	11: 23,414,718 (GRCm39)	M2906T		Het
Vmn2r28	A	T	7: 5,493,613 (GRCm39)	M111K	probably benign	Het
Vmn2r97	T	C	17: 19,167,416 (GRCm39)	C557R	probably damaging	Het
Zfp873	T	A	10: 81,896,109 (GRCm39)	I280K	probably benign	Het

Other mutations in Fh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01723:Fh1	APN	1	175,429,108 (GRCm39)	missense	probably damaging	1.00
IGL02637:Fh1	APN	1	175,437,332 (GRCm39)	missense	probably benign	0.00
IGL02954:Fh1	APN	1	175,437,301 (GRCm39)	missense	probably damaging	1.00
IGL03056:Fh1	APN	1	175,433,728 (GRCm39)	missense	probably damaging	1.00
IGL03309:Fh1	APN	1	175,431,609 (GRCm39)	missense	probably benign	0.01
R0729:Fh1	UTSW	1	175,442,383 (GRCm39)	missense	probably damaging	1.00
R1240:Fh1	UTSW	1	175,431,581 (GRCm39)	missense	probably damaging	1.00
R1327:Fh1	UTSW	1	175,437,310 (GRCm39)	missense	probably benign	0.32
R1576:Fh1	UTSW	1	175,435,385 (GRCm39)	missense	probably null	1.00
R1779:Fh1	UTSW	1	175,428,990 (GRCm39)	makesense	probably null
R1823:Fh1	UTSW	1	175,444,114 (GRCm39)	missense	probably damaging	1.00
R1851:Fh1	UTSW	1	175,435,452 (GRCm39)	missense	probably damaging	1.00
R1943:Fh1	UTSW	1	175,437,344 (GRCm39)	missense	probably benign
R2163:Fh1	UTSW	1	175,442,406 (GRCm39)	missense	possibly damaging	0.80
R3766:Fh1	UTSW	1	175,442,316 (GRCm39)	missense	probably damaging	1.00
R4193:Fh1	UTSW	1	175,442,407 (GRCm39)	missense	possibly damaging	0.51
R4672:Fh1	UTSW	1	175,431,617 (GRCm39)	missense	probably benign	0.07
R4812:Fh1	UTSW	1	175,429,025 (GRCm39)	missense	probably damaging	0.99
R4849:Fh1	UTSW	1	175,448,072 (GRCm39)	missense	probably benign	0.00
R4905:Fh1	UTSW	1	175,446,639 (GRCm39)	missense	probably damaging	1.00
R4978:Fh1	UTSW	1	175,431,533 (GRCm39)	missense	probably damaging	1.00
R6645:Fh1	UTSW	1	175,442,442 (GRCm39)	missense	possibly damaging	0.94
R6681:Fh1	UTSW	1	175,446,690 (GRCm39)	missense	probably null	0.71
R7075:Fh1	UTSW	1	175,435,421 (GRCm39)	missense	probably benign	0.00
R7646:Fh1	UTSW	1	175,442,479 (GRCm39)	missense	probably benign	0.03
R7783:Fh1	UTSW	1	175,439,744 (GRCm39)	missense	probably damaging	1.00
R7991:Fh1	UTSW	1	175,437,337 (GRCm39)	missense	probably damaging	1.00
R8694:Fh1	UTSW	1	175,448,126 (GRCm39)	missense	probably benign	0.00
R8765:Fh1	UTSW	1	175,435,378 (GRCm39)	intron	probably benign
R8882:Fh1	UTSW	1	175,437,353 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- AGCAGGCATGATCCCTAAGTC -3'
(R):5'- CTAAGATAGTTCTGTAAGCAGGGC -3'

Sequencing Primer
(F):5'- GATCCCTAAGTCTTCTCTAGCGGAG -3'
(R):5'- CAGGGCTTTGCTCAATCATG -3'

Posted On

2019-12-20