Incidental Mutation 'IGL02374:Fah'
ID 291028
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fah
Ensembl Gene ENSMUSG00000030630
Gene Name fumarylacetoacetate hydrolase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02374
Quality Score
Status
Chromosome 7
Chromosomal Location 84585159-84606722 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84605701 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 8 (E8G)
Ref Sequence ENSEMBL: ENSMUSP00000032865 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032865] [ENSMUST00000128460]
AlphaFold P35505
PDB Structure CRYSTAL STRUCTURE OF FUMARYLACETOACETATE HYDROLASE COMPLEXED WITH 4-(HYDROXYMETHYLPHOSPHINOYL)-3-OXO-BUTANOIC ACID [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF FUMARYLACETOACETATE HYDROLASE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF FUMARYLACETOACETATE HYDROLASE COMPLEXED WITH FUMARATE AND ACETOACETATE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MOUSE FUMARYLACETOACETATE HYDROLASE REFINED AT 1.55 ANGSTROM RESOLUTION [X-RAY DIFFRACTION]
Mouse fumarylacetoacetate hydrolase complexes with a transition-state mimic of the complete substrate [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000032865
AA Change: E8G

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000032865
Gene: ENSMUSG00000030630
AA Change: E8G

DomainStartEndE-ValueType
Pfam:FAA_hydrolase_N 15 118 1.7e-36 PFAM
Pfam:FAA_hydrolase 123 413 1e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128460
SMART Domains Protein: ENSMUSP00000121439
Gene: ENSMUSG00000030630

DomainStartEndE-ValueType
Pfam:FAA_hydrolase_N 1 48 7.2e-10 PFAM
Pfam:FAA_hydrolase 53 140 7.3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209112
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted, deletion, and ENU-induced mutations die perinatally with liver and kidney dysfunction, hypoglycemia, and grossly altered liver mRNA expression. Mice homozygous for a mutation of this gene exhibit inappropriate bouts of activity during the light period of the circadian cycle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl5b T C 2: 15,068,192 Y35H probably damaging Het
Ccdc144b T C 3: 36,019,959 Q347R possibly damaging Het
Cnksr3 A G 10: 7,120,335 S300P probably damaging Het
Col27a1 T C 4: 63,293,249 S1013P possibly damaging Het
Cyp39a1 A G 17: 43,749,981 probably benign Het
Deptor G T 15: 55,180,961 L174F probably damaging Het
Fastk C A 5: 24,444,249 A47S possibly damaging Het
Foxl2 C T 9: 98,955,832 L58F probably damaging Het
Igf2bp2 G T 16: 22,081,868 H106Q probably benign Het
Igkv12-47 T C 6: 69,750,975 T71A probably benign Het
Ino80d T C 1: 63,086,061 I81V possibly damaging Het
Ints9 G A 14: 65,039,333 E650K probably benign Het
Klc2 T C 19: 5,110,410 N408S possibly damaging Het
Klhl32 A T 4: 24,743,856 probably null Het
Ksr1 C T 11: 79,028,491 G504D probably benign Het
Lonp2 C A 8: 86,709,045 D636E probably damaging Het
Lpin3 G A 2: 160,895,838 probably benign Het
Mcmdc2 C T 1: 9,911,982 A56V possibly damaging Het
Olfr1208 A T 2: 88,897,459 I46N probably damaging Het
Olfr129 A T 17: 38,055,521 V24D probably damaging Het
Pex1 T C 5: 3,635,481 I1163T probably benign Het
Ppp1r3a C T 6: 14,718,600 V772I probably damaging Het
Ptbp2 A T 3: 119,720,693 probably benign Het
Rell1 A T 5: 63,937,808 I105K possibly damaging Het
Sis A T 3: 72,925,456 S1003T probably benign Het
Slc26a3 T A 12: 31,470,833 probably benign Het
Stap1 G A 5: 86,096,551 G264R probably damaging Het
Tmem176b T C 6: 48,834,626 N30D possibly damaging Het
Tmprss15 A T 16: 79,035,168 Y367N probably benign Het
Ttc41 A G 10: 86,775,951 D1061G probably damaging Het
Ufl1 A C 4: 25,259,237 D460E probably benign Het
Vmn2r104 T C 17: 20,042,786 I138V probably benign Het
Wdfy2 T C 14: 62,934,384 S194P probably benign Het
Zfp408 A C 2: 91,645,811 C333G probably damaging Het
Zfp592 T C 7: 81,024,983 V565A probably damaging Het
Other mutations in Fah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01798:Fah APN 7 84589629 missense probably benign 0.33
IGL02975:Fah APN 7 84601079 missense probably benign 0.00
IGL03403:Fah APN 7 84593209 missense probably damaging 1.00
R0245:Fah UTSW 7 84595498 missense probably benign
R0689:Fah UTSW 7 84593184 critical splice donor site probably null
R1173:Fah UTSW 7 84601136 start codon destroyed probably null 1.00
R1413:Fah UTSW 7 84593212 missense probably damaging 0.99
R1995:Fah UTSW 7 84602181 missense probably damaging 1.00
R2150:Fah UTSW 7 84594834 missense probably damaging 1.00
R3612:Fah UTSW 7 84585290 missense probably damaging 0.98
R3620:Fah UTSW 7 84588951 splice site probably null
R4360:Fah UTSW 7 84589648 missense probably damaging 1.00
R4386:Fah UTSW 7 84599136 missense probably damaging 1.00
R4923:Fah UTSW 7 84602052 intron probably benign
R5151:Fah UTSW 7 84601051 missense possibly damaging 0.87
R5443:Fah UTSW 7 84592396 missense probably damaging 0.96
R5470:Fah UTSW 7 84593185 critical splice donor site probably null
R5976:Fah UTSW 7 84594741 missense probably benign 0.00
R6086:Fah UTSW 7 84588912 missense probably damaging 1.00
R6272:Fah UTSW 7 84595545 missense probably damaging 1.00
R6502:Fah UTSW 7 84594835 missense probably damaging 1.00
R6586:Fah UTSW 7 84593260 missense probably benign 0.04
R7522:Fah UTSW 7 84597074 missense probably benign 0.00
R7832:Fah UTSW 7 84595478 missense probably damaging 1.00
R8535:Fah UTSW 7 84601097 missense probably benign
R8823:Fah UTSW 7 84605717 missense possibly damaging 0.85
RF002:Fah UTSW 7 84589628 missense probably damaging 1.00
Posted On 2015-04-16