Incidental Mutation 'IGL02975:Fah'
ID 406325
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fah
Ensembl Gene ENSMUSG00000030630
Gene Name fumarylacetoacetate hydrolase
Synonyms swst
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02975
Quality Score
Status
Chromosome 7
Chromosomal Location 84234367-84255150 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84250287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 90 (S90T)
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: S90T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000032865
Gene: ENSMUSG00000030630
AA Change: S90T

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
AA Change: S20T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000121439
Gene: ENSMUSG00000030630
AA Change: S20T

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,381,784 (GRCm39) D326G possibly damaging Het
Abtb3 A G 10: 85,467,207 (GRCm39) I721V probably benign Het
Ago4 C T 4: 126,406,312 (GRCm39) probably null Het
Ank A G 15: 27,467,087 (GRCm39) probably benign Het
Ankmy2 C A 12: 36,243,773 (GRCm39) S329R possibly damaging Het
Aox1 A G 1: 58,107,550 (GRCm39) E608G probably damaging Het
Car1 G A 3: 14,842,882 (GRCm39) L48F probably benign Het
Cct8 A G 16: 87,283,118 (GRCm39) probably benign Het
Clasp1 A T 1: 118,390,277 (GRCm39) T154S probably damaging Het
Clca4a A C 3: 144,669,530 (GRCm39) I340M possibly damaging Het
Cnksr3 C T 10: 7,088,354 (GRCm39) probably null Het
Cntrob T C 11: 69,210,199 (GRCm39) T265A possibly damaging Het
Ddx5 T C 11: 106,672,711 (GRCm39) I605V probably benign Het
Eif3i A G 4: 129,489,105 (GRCm39) Y70H probably damaging Het
Epb41l5 T C 1: 119,506,811 (GRCm39) probably benign Het
Fat2 T A 11: 55,161,020 (GRCm39) M3237L probably benign Het
Fbxw8 A G 5: 118,215,760 (GRCm39) Y417H probably benign Het
Fmnl2 C A 2: 52,991,494 (GRCm39) F336L probably benign Het
Gli3 A G 13: 15,899,153 (GRCm39) R847G probably damaging Het
Gm17509 T C 13: 117,357,308 (GRCm39) probably benign Het
Gm4846 T A 1: 166,311,449 (GRCm39) Y470F possibly damaging Het
Gm7461 T C 8: 4,727,847 (GRCm39) noncoding transcript Het
Gpatch4 A T 3: 87,961,743 (GRCm39) N134I possibly damaging Het
Grina A G 15: 76,133,185 (GRCm39) Y251C probably damaging Het
Gsn A G 2: 35,194,666 (GRCm39) D654G probably benign Het
Hyal5 A G 6: 24,891,451 (GRCm39) T422A probably benign Het
Iars1 T A 13: 49,858,325 (GRCm39) I377N probably damaging Het
Ints3 A T 3: 90,309,144 (GRCm39) probably benign Het
Kdm4b G A 17: 56,682,996 (GRCm39) probably null Het
Kyat1 A G 2: 30,076,687 (GRCm39) S276P probably damaging Het
Lrrc1 A G 9: 77,359,929 (GRCm39) C288R probably damaging Het
Mst1r T A 9: 107,790,379 (GRCm39) M664K probably benign Het
Neb A T 2: 52,188,879 (GRCm39) I817N probably damaging Het
Nudt6 C A 3: 37,473,667 (GRCm39) G18V probably damaging Het
Or10a49 G A 7: 108,468,062 (GRCm39) Q100* probably null Het
Or4k52 T A 2: 111,611,266 (GRCm39) Y200* probably null Het
Or7a41 T C 10: 78,870,867 (GRCm39) V79A possibly damaging Het
Pde1c A G 6: 56,135,921 (GRCm39) I341T probably damaging Het
Pgm5 T C 19: 24,812,212 (GRCm39) I107V probably benign Het
Pot1b G A 17: 55,969,454 (GRCm39) probably benign Het
Prkca C T 11: 108,231,503 (GRCm39) W58* probably null Het
Slc12a9 T C 5: 137,320,705 (GRCm39) K555R probably damaging Het
Smoc2 A T 17: 14,556,872 (GRCm39) Q107L probably damaging Het
Sytl1 T A 4: 132,988,343 (GRCm39) R4S probably benign Het
Tbc1d4 A G 14: 101,695,549 (GRCm39) L963P probably damaging Het
Tfdp2 G A 9: 96,199,989 (GRCm39) probably benign Het
Tmem63a A T 1: 180,788,640 (GRCm39) M326L probably benign Het
Vmn2r66 A G 7: 84,656,182 (GRCm39) L278P probably damaging Het
Wtap A G 17: 13,202,398 (GRCm39) V11A possibly damaging Het
Zcchc9 A T 13: 91,954,172 (GRCm39) S28T possibly damaging Het
Zfp12 C T 5: 143,229,814 (GRCm39) probably benign Het
Other mutations in Fah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01798:Fah APN 7 84,238,837 (GRCm39) missense probably benign 0.33
IGL02374:Fah APN 7 84,254,909 (GRCm39) missense probably benign 0.02
IGL03403:Fah APN 7 84,242,417 (GRCm39) missense probably damaging 1.00
R0245:Fah UTSW 7 84,244,706 (GRCm39) missense probably benign
R0689:Fah UTSW 7 84,242,392 (GRCm39) critical splice donor site probably null
R1173:Fah UTSW 7 84,250,344 (GRCm39) start codon destroyed probably null 1.00
R1413:Fah UTSW 7 84,242,420 (GRCm39) missense probably damaging 0.99
R1995:Fah UTSW 7 84,251,389 (GRCm39) missense probably damaging 1.00
R2150:Fah UTSW 7 84,244,042 (GRCm39) missense probably damaging 1.00
R3612:Fah UTSW 7 84,234,498 (GRCm39) missense probably damaging 0.98
R3620:Fah UTSW 7 84,238,159 (GRCm39) splice site probably null
R4360:Fah UTSW 7 84,238,856 (GRCm39) missense probably damaging 1.00
R4386:Fah UTSW 7 84,248,344 (GRCm39) missense probably damaging 1.00
R4923:Fah UTSW 7 84,251,260 (GRCm39) intron probably benign
R5151:Fah UTSW 7 84,250,259 (GRCm39) missense possibly damaging 0.87
R5443:Fah UTSW 7 84,241,604 (GRCm39) missense probably damaging 0.96
R5470:Fah UTSW 7 84,242,393 (GRCm39) critical splice donor site probably null
R5976:Fah UTSW 7 84,243,949 (GRCm39) missense probably benign 0.00
R6086:Fah UTSW 7 84,238,120 (GRCm39) missense probably damaging 1.00
R6272:Fah UTSW 7 84,244,753 (GRCm39) missense probably damaging 1.00
R6502:Fah UTSW 7 84,244,043 (GRCm39) missense probably damaging 1.00
R6586:Fah UTSW 7 84,242,468 (GRCm39) missense probably benign 0.04
R7522:Fah UTSW 7 84,246,282 (GRCm39) missense probably benign 0.00
R7832:Fah UTSW 7 84,244,686 (GRCm39) missense probably damaging 1.00
R8535:Fah UTSW 7 84,250,305 (GRCm39) missense probably benign
R8823:Fah UTSW 7 84,254,925 (GRCm39) missense possibly damaging 0.85
RF002:Fah UTSW 7 84,238,836 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02