Mutagenetix > Incidental Mutation

Incidental Mutation 'R0689:Fah'

61277

Institutional Source

Beutler Lab

Gene Symbol

Fah

Ensembl Gene

ENSMUSG00000030630

Gene Name

fumarylacetoacetate hydrolase

Synonyms

MMRRC Submission

038874-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0689 (G1)

Quality Score

109

Status

Validated

Chromosome

Chromosomal Location

84585159-84606722 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 84593184 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000032865

SMART Domains

Protein: ENSMUSP00000032865
Gene: ENSMUSG00000030630

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

SMART Domains

Protein: ENSMUSP00000121439
Gene: ENSMUSG00000030630

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: ENSMUST00000209112

Meta Mutation Damage Score

0.9484

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.4%
20x: 91.1%

Validation Efficiency

99% (80/81)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	C	A	7: 28,897,049	G674W	probably damaging	Het
Adcy9	A	G	16: 4,312,804		probably benign	Het
Adgrv1	C	T	13: 81,475,105	V3800I	possibly damaging	Het
Agl	A	G	3: 116,793,628	Y93H	probably damaging	Het
Aldh1a3	T	A	7: 66,402,005	D400V	probably benign	Het
Bpifc	A	G	10: 85,960,547		probably benign	Het
Cachd1	G	T	4: 100,974,876	R745L	probably damaging	Het
Cadm3	T	A	1: 173,344,452	T185S	possibly damaging	Het
Cep85l	G	T	10: 53,348,847	D215E	probably damaging	Het
Ces1g	A	G	8: 93,328,407	S221P	probably damaging	Het
Cfap206	C	T	4: 34,722,668	V138M	probably benign	Het
Csmd3	A	T	15: 47,756,025	F1714I	probably benign	Het
Cyp4f18	A	G	8: 71,995,968	L279P	probably benign	Het
Dnah7a	G	A	1: 53,620,681	Q723*	probably null	Het
Dnaja2	A	G	8: 85,546,718		probably benign	Het
Dnajc6	T	C	4: 101,611,253	V162A	possibly damaging	Het
Dok4	T	C	8: 94,870,919	T3A	probably benign	Het
Efcab7	T	C	4: 99,904,784	W424R	probably damaging	Het
Fam120a	T	C	13: 48,967,638	D64G	probably damaging	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gas8	T	G	8: 123,524,106	L106R	probably damaging	Het
Gykl1	T	G	18: 52,694,051	N110K	possibly damaging	Het
Hsd3b3	G	T	3: 98,741,979	L343I	possibly damaging	Het
Itch	T	A	2: 155,182,178	S234T	possibly damaging	Het
Itgbl1	A	T	14: 123,827,847	I61F	possibly damaging	Het
Klf6	T	A	13: 5,865,116	S185T	probably damaging	Het
Klk1b1	A	C	7: 43,970,719	K202T	probably benign	Het
Liph	T	C	16: 21,968,068	Y268C	probably damaging	Het
Mroh2a	C	T	1: 88,230,680	R150*	probably null	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Myo9b	G	A	8: 71,330,756	D574N	probably damaging	Het
Nfyb	G	A	10: 82,755,002	A65V	possibly damaging	Het
Nipbl	A	G	15: 8,293,078		probably null	Het
Olfm3	T	A	3: 115,122,545	N355K	probably benign	Het
Olfr726	A	T	14: 50,084,232	F150I	probably benign	Het
Pcdhb21	A	G	18: 37,515,317	T500A	probably benign	Het
Pclo	A	G	5: 14,714,019	I4169V	unknown	Het
Pde4d	T	C	13: 109,740,544	S144P	possibly damaging	Het
Pgghg	T	C	7: 140,943,278	Y157H	probably benign	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Pla2g12a	T	C	3: 129,881,298		probably null	Het
Ppp1r14d	T	C	2: 119,229,612	D63G	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Sgip1	A	T	4: 102,966,252	D690V	probably damaging	Het
Skp1a	T	C	11: 52,243,765		probably benign	Het
Slc25a12	T	C	2: 71,311,493	Y272C	possibly damaging	Het
Slc37a2	A	G	9: 37,235,550		probably benign	Het
Snx6	A	T	12: 54,763,656	S112T	probably benign	Het
Sox6	A	G	7: 115,486,551	V685A	probably damaging	Het
Taf2	A	T	15: 55,063,065	V163E	possibly damaging	Het
Tg	A	T	15: 66,839,404		probably benign	Het
Tmem30c	A	G	16: 57,270,173	Y224H	probably damaging	Het
Tmem45b	T	C	9: 31,428,583	N173D	probably benign	Het
Traf5	T	C	1: 191,997,876	T405A	probably benign	Het
Trerf1	C	T	17: 47,319,374		noncoding transcript	Het
Triobp	A	T	15: 78,959,988	K135*	probably null	Het
Ttll9	T	A	2: 152,983,127	D75E	probably benign	Het
Vmn1r63	T	C	7: 5,803,610	I8V	probably benign	Het
Vmn2r77	A	T	7: 86,811,664	I733F	probably damaging	Het
Vmn2r98	T	C	17: 19,080,520	S595P	possibly damaging	Het
Zcchc2	C	T	1: 106,030,504	Q504*	probably null	Het
Zfp2	T	C	11: 50,900,907	D103G	probably benign	Het
Zfp59	A	G	7: 27,853,717	K198R	probably benign	Het
Zfp64	C	A	2: 168,935,201		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
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

Predicted Primers

PCR Primer
(F):5'- GCTAGAAGGTTGCAGAGTCCAACAC -3'
(R):5'- ACATCTGTCACTGCTGCCATATGTC -3'

Sequencing Primer
(F):5'- TGTAGGACAATGCATCCCAACTG -3'
(R):5'- TCACACTCTGTATTGGAGAGC -3'

Posted On

2013-07-30