|Institutional Source||Beutler Lab|
|Gene Name||fumarate hydratase 1|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R1823 (G1)|
|Chromosomal Location||175600374-175625635 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 175616548 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Lysine at position 117 (I117K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027810 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027810] [ENSMUST00000140474] [ENSMUST00000154956]|
AA Change: I117K
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I117K
|Meta Mutation Damage Score||0.9750|
|Coding Region Coverage||
|Validation Efficiency||98% (87/89)|
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||
|Other mutations in Fh1||
(F):5'- CCAAGATGTTTCGAGCACTG -3'
(R):5'- ACACAGAAGCAAGTTTTCTCTG -3'
(F):5'- GTTTCGAGCACTGAGTAATAACG -3'
(R):5'- AGAACCTTGGTACCATTTTTGC -3'