Mutagenetix > Incidental Mutation

Incidental Mutation 'R5151:Fah'

395364

Institutional Source

Beutler Lab

Gene Symbol

Fah

Ensembl Gene

ENSMUSG00000030630

Gene Name

fumarylacetoacetate hydrolase

Synonyms

MMRRC Submission

042733-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5151 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84585159-84606722 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84601051 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 99 (D99V)

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

possibly damaging
Transcript: ENSMUST00000032865
AA Change: D99V

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032865
Gene: ENSMUSG00000030630
AA Change: D99V

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: D29V

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000121439
Gene: ENSMUSG00000030630
AA Change: D29V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134390

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209112

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	T	A	15: 101,210,770	C476S	probably damaging	Het
Agpat2	A	G	2: 26,597,206	M120T	probably damaging	Het
Ahnak	A	G	19: 9,017,569	T5406A	probably benign	Het
Ano4	A	G	10: 89,112,913	F112L	probably damaging	Het
Arhgef11	T	A	3: 87,735,360	V1371D	probably damaging	Het
Ascc3	A	G	10: 50,637,963	N286S	probably damaging	Het
Ate1	T	C	7: 130,507,664	K202E	possibly damaging	Het
Cacna1d	T	C	14: 30,123,323	T630A	probably damaging	Het
Ccdc187	G	T	2: 26,293,439	T183N	probably damaging	Het
Cdk12	C	T	11: 98,249,923		probably benign	Het
Ciita	A	G	16: 10,523,730	N978S	probably damaging	Het
Cit	A	T	5: 115,979,835	Q1268L	probably damaging	Het
Csf2rb	C	T	15: 78,340,581	R180W	probably damaging	Het
Dnah17	T	C	11: 118,027,467	I4079V	probably damaging	Het
Dnah7a	A	G	1: 53,620,770	V693A	probably benign	Het
Dnah8	T	A	17: 30,712,295	V1428E	probably benign	Het
Dnhd1	C	A	7: 105,713,440	Q3777K	probably benign	Het
Dock9	A	G	14: 121,578,170	Y1666H	probably damaging	Het
Dpysl3	C	T	18: 43,438,080	G43D	probably benign	Het
Eftud2	A	G	11: 102,867,844		probably null	Het
Erich4	T	C	7: 25,615,867		probably benign	Het
Fat1	T	C	8: 44,951,814	V534A	possibly damaging	Het
Fgf21	G	C	7: 45,614,032	S207R	probably damaging	Het
Fras1	C	T	5: 96,645,110	P967S	probably damaging	Het
H2-T23	T	C	17: 36,032,338	D49G	probably damaging	Het
Hmcn2	A	G	2: 31,389,443	N1819S	probably null	Het
Hoxc12	A	G	15: 102,938,446	I258V	probably damaging	Het
Ighv1-22	T	A	12: 114,746,308	T106S	probably damaging	Het
Inpp5j	T	C	11: 3,502,270	T327A	probably damaging	Het
Iqgap3	G	T	3: 88,117,760	M689I	possibly damaging	Het
Itga7	G	A	10: 128,944,511	G559S	possibly damaging	Het
Kcnq1	G	T	7: 143,426,012	V632L	probably benign	Het
Lsamp	T	C	16: 42,134,429	V230A	probably damaging	Het
Mfn2	A	T	4: 147,886,328	S305T	probably benign	Het
Myom3	A	G	4: 135,789,572	T818A	probably benign	Het
Nacc2	G	A	2: 26,090,353	R24C	probably damaging	Het
Ntrk3	A	C	7: 78,247,300	I663R	probably damaging	Het
Nyap1	A	G	5: 137,736,114	V219A	probably damaging	Het
Obox3	A	T	7: 15,626,248	N165K	probably damaging	Het
Olfr1382	A	G	11: 49,535,415	T77A	possibly damaging	Het
Olfr211	T	A	6: 116,493,804	L65*	probably null	Het
Olfr544	G	A	7: 102,484,985	T45I	probably benign	Het
Olfr589	C	A	7: 103,155,386	M120I	probably damaging	Het
Olfr71	A	T	4: 43,706,518	F17I	probably damaging	Het
Pask	A	T	1: 93,334,628	L170H	probably damaging	Het
Piezo2	A	T	18: 63,030,409	I2146N	possibly damaging	Het
Pitpnm2	A	T	5: 124,136,386	M220K	probably damaging	Het
Pkhd1l1	A	G	15: 44,505,309	D841G	probably benign	Het
Pla2g3	C	T	11: 3,490,827	T264M	probably benign	Het
Plcb1	A	T	2: 135,262,245	Y278F	probably benign	Het
Prkdc	T	C	16: 15,716,035	L1579P	probably damaging	Het
Rad51ap2	T	A	12: 11,457,515	N479K	probably benign	Het
Rasgrf2	T	C	13: 91,896,036	H966R	probably damaging	Het
Rbm27	A	G	18: 42,338,444	D996G	probably damaging	Het
Rif1	A	C	2: 52,120,309	K2337T	probably damaging	Het
Rpl13a	G	T	7: 45,125,961	N442K	probably benign	Het
Serpini2	T	A	3: 75,246,513	T380S	possibly damaging	Het
Setbp1	A	T	18: 78,857,999	W818R	probably damaging	Het
Siae	T	A	9: 37,631,573	C185S	probably benign	Het
Slc15a2	A	G	16: 36,752,297	V674A	probably damaging	Het
Slc40a1	A	T	1: 45,911,356	M312K	possibly damaging	Het
Slc46a3	A	G	5: 147,886,756	L92S	probably damaging	Het
Son	T	C	16: 91,655,699	S445P	probably damaging	Het
Syne2	T	C	12: 76,043,710	F351L	probably benign	Het
Tmed3	G	A	9: 89,699,772	R213*	probably null	Het
Tmem248	T	A	5: 130,240,397	L277H	probably damaging	Het
Unc13c	T	A	9: 73,931,475	H698L	probably benign	Het
Ushbp1	A	G	8: 71,395,155	V24A	possibly damaging	Het
Usp24	G	T	4: 106,399,112		probably null	Het
Vmn2r50	T	G	7: 10,053,043	I46L	probably benign	Het
Zfp106	T	C	2: 120,534,727	T423A	probably benign	Het
Zfp663	T	A	2: 165,353,193	T369S	probably benign	Het
Zmynd11	T	C	13: 9,690,917	T382A	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- ACAGAATCAGGGGCACCATC -3'
(R):5'- CCCAACTCGTGAATGGATGG -3'

Sequencing Primer
(F):5'- GAATCAGGGGCACCATCCAGTC -3'
(R):5'- CTCGTGAATGGATGGAGAAAAGTC -3'

Posted On

2016-06-21