Incidental Mutation 'IGL03309:Fh1'
ID416504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fh1
Ensembl Gene ENSMUSG00000026526
Gene Namefumarate hydratase 1
Synonymsfumarase
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03309
Quality Score
Status
Chromosome1
Chromosomal Location175600374-175625635 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 175604043 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 426 (S426T)
Ref Sequence ENSEMBL: ENSMUSP00000027810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027810]
Predicted Effect probably benign
Transcript: ENSMUST00000027810
AA Change: S426T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000027810
Gene: ENSMUSG00000026526
AA Change: S426T

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: S85T
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
Aadac A G 3: 60,039,882 T334A possibly damaging Het
Armc9 A G 1: 86,274,433 E771G possibly damaging Het
Cd207 G T 6: 83,677,753 T16K possibly damaging Het
Cd44 C T 2: 102,814,177 E421K probably damaging Het
Cfap221 A G 1: 119,934,601 Y584H probably damaging Het
Clock A G 5: 76,231,394 probably null Het
Clpx T G 9: 65,322,692 L474R probably damaging Het
Cntd1 T C 11: 101,284,764 V143A probably damaging Het
Cttnbp2 A G 6: 18,381,036 V877A probably damaging Het
Dlx6 G T 6: 6,867,289 M158I possibly damaging Het
Fank1 A G 7: 133,862,173 T33A probably damaging Het
Fbf1 A G 11: 116,147,811 L828P probably damaging Het
Gabrg3 G T 7: 56,982,685 Q172K probably damaging Het
Glipr1l1 A G 10: 112,072,236 probably benign Het
Hypk T A 2: 121,458,192 L113* probably null Het
Hypk G T 2: 121,458,193 L113F probably damaging Het
Ipo5 G A 14: 120,920,004 V85I probably benign Het
Kif1a A T 1: 93,058,857 Y575* probably null Het
Morf4l1 T A 9: 90,103,745 E60V probably benign Het
Olfr655 A G 7: 104,597,041 F47L probably benign Het
Olfr782 A T 10: 129,351,309 T249S probably benign Het
Parp4 A T 14: 56,587,808 T130S probably benign Het
Prkd1 A G 12: 50,388,424 Y507H probably damaging Het
Psme2b A C 11: 48,945,799 probably null Het
Rbm44 T C 1: 91,168,840 probably null Het
Rngtt C A 4: 33,339,091 R299S probably damaging Het
Ros1 A G 10: 52,118,261 S1308P possibly damaging Het
Rpl3l A G 17: 24,736,024 K398E possibly damaging Het
Scube3 C T 17: 28,164,357 R374* probably null Het
Srcap A G 7: 127,530,793 T616A probably damaging Het
Stk3 G A 15: 35,099,551 probably benign Het
Tas2r124 A T 6: 132,754,935 D69V probably benign Het
Zbtb41 T A 1: 139,432,078 probably null Het
Other mutations in Fh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01723:Fh1 APN 1 175601542 missense probably damaging 1.00
IGL02637:Fh1 APN 1 175609766 missense probably benign 0.00
IGL02954:Fh1 APN 1 175609735 missense probably damaging 1.00
IGL03056:Fh1 APN 1 175606162 missense probably damaging 1.00
R0729:Fh1 UTSW 1 175614817 missense probably damaging 1.00
R1240:Fh1 UTSW 1 175604015 missense probably damaging 1.00
R1327:Fh1 UTSW 1 175609744 missense probably benign 0.32
R1576:Fh1 UTSW 1 175607819 missense probably null 1.00
R1779:Fh1 UTSW 1 175601424 makesense probably null
R1823:Fh1 UTSW 1 175616548 missense probably damaging 1.00
R1851:Fh1 UTSW 1 175607886 missense probably damaging 1.00
R1943:Fh1 UTSW 1 175609778 missense probably benign
R2163:Fh1 UTSW 1 175614840 missense possibly damaging 0.80
R3766:Fh1 UTSW 1 175614750 missense probably damaging 1.00
R4193:Fh1 UTSW 1 175614841 missense possibly damaging 0.51
R4672:Fh1 UTSW 1 175604051 missense probably benign 0.07
R4812:Fh1 UTSW 1 175601459 missense probably damaging 0.99
R4849:Fh1 UTSW 1 175620506 missense probably benign 0.00
R4905:Fh1 UTSW 1 175619073 missense probably damaging 1.00
R4978:Fh1 UTSW 1 175603967 missense probably damaging 1.00
R6645:Fh1 UTSW 1 175614876 missense possibly damaging 0.94
R6681:Fh1 UTSW 1 175619124 missense probably null 0.71
R7075:Fh1 UTSW 1 175607855 missense probably benign 0.00
R7646:Fh1 UTSW 1 175614913 missense probably benign 0.03
R7783:Fh1 UTSW 1 175612178 missense probably damaging 1.00
R7862:Fh1 UTSW 1 175614834 missense probably damaging 0.97
R7945:Fh1 UTSW 1 175614834 missense probably damaging 0.97
Posted On2016-08-02