Mutagenetix > Incidental Mutations

Incidental Mutation 'R7522:Fah'

582717

Institutional Source

Beutler Lab

Gene Symbol

Fah

Ensembl Gene

ENSMUSG00000030630

Gene Name

fumarylacetoacetate hydrolase

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7522 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84585159-84606722 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84597074 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 189 (V189A)

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: V189A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000032865
Gene: ENSMUSG00000030630
AA Change: V189A

Domain	Start	End	E-Value	Type
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: V119A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000121439
Gene: ENSMUSG00000030630
AA Change: V119A

Domain	Start	End	E-Value	Type
Pfam:FAA_hydrolase_N	1	48	7.2e-10	PFAM
Pfam:FAA_hydrolase	53	140	7.3e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (75/77)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030014E15Rik	G	T	1: 82,925,228	C82F	unknown	Het
Adam21	G	C	12: 81,558,948	T680R	possibly damaging	Het
Adgrf4	A	C	17: 42,669,784	Y137D	probably benign	Het
Ago3	T	C	4: 126,363,807	K477R	probably benign	Het
Ahnak	T	A	19: 9,002,322	D323E	probably benign	Het
Amph	A	G	13: 19,086,545	D108G	probably damaging	Het
Ankrd10	A	T	8: 11,632,910	C106S	probably damaging	Het
Bmp5	A	T	9: 75,776,102	T4S	probably benign	Het
Brix1	G	A	15: 10,476,590	R267C	probably damaging	Het
Calcrl	G	A	2: 84,373,364	S24L	probably benign	Het
Ccdc40	T	G	11: 119,232,221	I213R	possibly damaging	Het
Cd300lg	A	G	11: 102,054,202	I413V	probably benign	Het
Cdh3	G	A	8: 106,541,373	D347N	probably damaging	Het
Clcn3	T	C	8: 60,941,412	T55A	probably benign	Het
Cnga4	A	G	7: 105,405,988	T260A	probably damaging	Het
Cpne8	G	T	15: 90,601,819	P147Q	probably benign	Het
Cpsf6	A	G	10: 117,367,829	Y74H	unknown	Het
Cryl1	A	T	14: 57,275,971	S264R	probably benign	Het
Cyp39a1	C	T	17: 43,667,479		probably benign	Het
Cyp4f39	T	C	17: 32,486,972	S346P	probably damaging	Het
Ddhd1	G	A	14: 45,657,647	A122V	possibly damaging	Het
Dnmt1	C	A	9: 20,920,202	C662F	probably damaging	Het
E2f6	G	A	12: 16,822,124	G190S	probably benign	Het
Esp34	A	T	17: 38,559,541	I109F	possibly damaging	Het
Espl1	A	T	15: 102,305,051	D604V	probably damaging	Het
Exo1	T	C	1: 175,901,304	C645R	probably benign	Het
Fam184b	A	C	5: 45,530,751	Y939D	probably damaging	Het
Fam49a	A	G	12: 12,358,056	T28A	possibly damaging	Het
Fchsd2	T	A	7: 101,259,622	L410*	probably null	Het
Gak	A	T	5: 108,591,199	I665N	possibly damaging	Het
Galnt9	A	G	5: 110,595,839		probably null	Het
Gcg	T	C	2: 62,475,759	R165G	probably benign	Het
Hexdc	T	C	11: 121,218,097	V214A	possibly damaging	Het
Hoxb3	A	T	11: 96,344,681	S145C	probably damaging	Het
Il18	A	G	9: 50,575,340	Y23C	probably damaging	Het
Itgav	A	T	2: 83,802,029	I954F	probably benign	Het
Kcna4	A	G	2: 107,296,255	R445G	probably damaging	Het
Kyat3	T	A	3: 142,734,544	L343Q	probably damaging	Het
Lgals4	A	T	7: 28,837,692	D139V	possibly damaging	Het
Lrp3	C	T	7: 35,204,330	G197D	probably damaging	Het
Lyst	T	A	13: 13,647,083	C1347*	probably null	Het
Man2a2	G	C	7: 80,368,865	A82G	probably benign	Het
Map3k4	T	C	17: 12,261,332	Q661R	probably benign	Het
Marcks	A	C	10: 37,136,581	F153V	unknown	Het
Mocs1	T	C	17: 49,435,264		probably null	Het
Naa60	A	G	16: 3,901,904	T232A	probably benign	Het
Olfr1189	A	G	2: 88,592,661	T286A	possibly damaging	Het
Olfr453	T	A	6: 42,744,634	I199N	probably damaging	Het
Olfr700	A	G	7: 106,805,787	V225A	probably damaging	Het
Olfr845	T	A	9: 19,338,998	C179*	probably null	Het
Oosp1	A	T	19: 11,688,701	I75N	probably benign	Het
Opn3	A	G	1: 175,665,623	V125A	probably benign	Het
Palb2	T	C	7: 122,113,278	T947A	probably damaging	Het
Pde5a	C	T	3: 122,840,999	R730*	probably null	Het
Plcl1	T	C	1: 55,696,364	I288T	probably benign	Het
Plxnb2	A	G	15: 89,161,774	I966T	probably benign	Het
Prkcz	T	C	4: 155,271,285	E400G	probably damaging	Het
Prpf8	A	G	11: 75,509,276	D2332G	possibly damaging	Het
Ptgds	T	G	2: 25,467,908	T154P	probably benign	Het
Rel	T	C	11: 23,770,676		probably null	Het
Serpinb1c	T	A	13: 32,882,217	K248N	probably benign	Het
Shkbp1	A	C	7: 27,347,158	W394G	possibly damaging	Het
Slc47a2	A	G	11: 61,302,250	V559A	probably benign	Het
Sox6	A	T	7: 115,801,578	F10I	probably damaging	Het
Stkld1	T	C	2: 26,947,247	V303A	probably benign	Het
Styk1	T	A	6: 131,312,840		probably null	Het
Tet1	T	C	10: 62,818,983	T1574A	possibly damaging	Het
Tkt	A	T	14: 30,568,223	I270F	possibly damaging	Het
Tmem5	A	G	10: 122,081,439	W390R	probably damaging	Het
Trak1	A	G	9: 121,442,711	E166G	probably damaging	Het
Tsc2	A	T	17: 24,630,965	I58N	probably damaging	Het
Uhmk1	T	A	1: 170,215,240	M1L	probably benign	Het
Usp50	T	C	2: 126,783,226	Y21C	probably damaging	Het
Vmn1r180	C	G	7: 23,953,260	P283A	probably damaging	Het
Vmn1r83	A	G	7: 12,321,578	M184T	possibly damaging	Het
Vmn2r109	A	G	17: 20,554,403	I230T	probably benign	Het

Other mutations in Fah

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01798:Fah	APN	7	84589629	missense	probably benign	0.33
IGL02374:Fah	APN	7	84605701	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- TTCAGTGGTCACATGGGGAC -3'
(R):5'- AAGTTCAGTTCACTATCACCACCTC -3'

Sequencing Primer
(F):5'- ACATGGGCTGCTATTTGTGGC -3'
(R):5'- ATACCATGGCCGAGCTTCC -3'

Posted On

2019-10-17