Incidental Mutation 'IGL01723:Fh1'
ID105169
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 #IGL01723
Quality Score
Status
Chromosome1
Chromosomal Location175600374-175625635 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 175601542 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Aspartic acid at position 469 (A469D)
Ref Sequence ENSEMBL: ENSMUSP00000027810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027810]
Predicted Effect probably damaging
Transcript: ENSMUST00000027810
AA Change: A469D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027810
Gene: ENSMUSG00000026526
AA Change: A469D

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: A128D
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,314,168 A705V probably benign Het
Abcc10 A T 17: 46,313,745 C728S probably damaging Het
Alms1 G A 6: 85,628,094 R1773Q probably benign Het
BC067074 A T 13: 113,367,557 Q198L possibly damaging Het
C030048H21Rik A G 2: 26,254,768 S1316P possibly damaging Het
Cd86 A G 16: 36,607,124 L281S probably benign Het
Cdon C T 9: 35,503,338 P1170S probably benign Het
Col11a2 T A 17: 34,061,280 probably benign Het
Cyp2j12 A G 4: 96,102,126 V401A possibly damaging Het
Cyp7a1 A T 4: 6,272,442 I257N probably damaging Het
Ddhd2 A T 8: 25,735,011 L593* probably null Het
Dnah8 T C 17: 30,708,471 L1367S probably damaging Het
Dsg4 G A 18: 20,466,510 V728M probably damaging Het
Dsp G A 13: 38,179,084 V447M probably damaging Het
Epx C T 11: 87,869,402 R462H probably damaging Het
Fgf18 T C 11: 33,134,332 T41A probably damaging Het
Hcn1 A C 13: 117,976,055 S852R probably damaging Het
Hmcn1 A T 1: 150,744,960 S1166R probably benign Het
Krt78 C T 15: 101,951,798 G228S possibly damaging Het
Lrrn4 T C 2: 132,870,061 E614G possibly damaging Het
Mettl9 T C 7: 121,052,269 I180T possibly damaging Het
Mgat2 A G 12: 69,185,641 T330A probably damaging Het
Myh13 T C 11: 67,369,219 probably benign Het
Nipbl G A 15: 8,335,071 T1283I possibly damaging Het
Nxpe4 A G 9: 48,398,598 D387G probably benign Het
Olfr1110 A G 2: 87,135,478 V281A probably benign Het
Olfr382 T A 11: 73,516,626 D191V probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Pcnt C T 10: 76,418,499 R832H possibly damaging Het
Ptprd A C 4: 76,243,673 S108R probably damaging Het
Ryr3 C T 2: 112,650,111 probably null Het
Slc22a4 C T 11: 53,988,845 V463M probably benign Het
Soga1 T C 2: 157,030,614 M938V probably benign Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Vmn2r44 T A 7: 8,377,916 H326L probably damaging Het
Vps13d A T 4: 145,173,145 M188K possibly damaging Het
Other mutations in Fh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03309:Fh1 APN 1 175604043 missense probably benign 0.01
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 On2014-01-21