Incidental Mutation 'IGL03056:Fh1'
ID 409238
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fh1
Ensembl Gene ENSMUSG00000026526
Gene Name fumarate hydratase 1
Synonyms fumarase
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03056
Quality Score
Status
Chromosome 1
Chromosomal Location 175428944-175453201 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 175433728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 374 (C374S)
Ref Sequence ENSEMBL: ENSMUSP00000027810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027810]
AlphaFold P97807
Predicted Effect probably damaging
Transcript: ENSMUST00000027810
AA Change: C374S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027810
Gene: ENSMUSG00000026526
AA Change: C374S

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000130996
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133218
Predicted Effect unknown
Transcript: ENSMUST00000176740
AA Change: C33S
Coding Region Coverage
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,647,862 (GRCm39) H1118R probably damaging Het
Aff1 G A 5: 103,958,947 (GRCm39) V339I probably damaging Het
Ank1 G T 8: 23,631,195 (GRCm39) V107F probably damaging Het
Aox3 T C 1: 58,198,180 (GRCm39) probably null Het
Cd160 T C 3: 96,713,127 (GRCm39) T46A probably benign Het
Cimip2a T A 2: 25,111,367 (GRCm39) M232K possibly damaging Het
Col20a1 A T 2: 180,636,682 (GRCm39) Y221F probably damaging Het
Ddx18 C T 1: 121,492,264 (GRCm39) A148T probably benign Het
Dennd5b A G 6: 148,956,570 (GRCm39) M307T probably damaging Het
Fam216b G A 14: 78,320,223 (GRCm39) H86Y probably benign Het
Fkbp14 A G 6: 54,556,529 (GRCm39) V207A probably benign Het
Gucy1a1 T C 3: 82,020,594 (GRCm39) K101R probably benign Het
Kcnk2 G T 1: 189,027,908 (GRCm39) Q116K possibly damaging Het
Kdm5b C A 1: 134,515,717 (GRCm39) Q114K probably damaging Het
Kif12 C T 4: 63,085,193 (GRCm39) R516Q probably null Het
Lca5l C T 16: 95,962,551 (GRCm39) C463Y probably benign Het
Lgsn T A 1: 31,242,705 (GRCm39) Y262* probably null Het
Lig4 A G 8: 10,022,580 (GRCm39) I400T possibly damaging Het
Mink1 T A 11: 70,503,409 (GRCm39) probably null Het
Mprip T A 11: 59,662,518 (GRCm39) I2243N probably damaging Het
Myo1f A T 17: 33,804,574 (GRCm39) Y426F probably damaging Het
Naip2 T A 13: 100,298,795 (GRCm39) S414C possibly damaging Het
Nrg1 T C 8: 32,311,451 (GRCm39) I363V possibly damaging Het
Or4f54 A T 2: 111,123,517 (GRCm39) R301S possibly damaging Het
Or52r1b A T 7: 102,690,958 (GRCm39) I86L possibly damaging Het
Serpinb9d T C 13: 33,386,736 (GRCm39) V268A probably damaging Het
Slc15a1 A G 14: 121,728,695 (GRCm39) F17L possibly damaging Het
Slc9a3 T A 13: 74,298,938 (GRCm39) V119E probably damaging Het
Sspo T A 6: 48,447,472 (GRCm39) M2346K probably benign Het
Tcf4 G T 18: 69,784,283 (GRCm39) probably benign Het
Trabd2b T C 4: 114,266,535 (GRCm39) V183A probably damaging Het
Ust T C 10: 8,083,326 (GRCm39) H350R probably benign Het
Zfp952 T A 17: 33,221,740 (GRCm39) V35E probably damaging Het
Other mutations in Fh1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7862:Fh1 UTSW 1 175,442,400 (GRCm39) missense probably damaging 0.97
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
Posted On 2016-08-02