Mutagenetix > Incidental Mutation

Incidental Mutation 'R6502:Fah'

519796

Institutional Source

Beutler Lab

Gene Symbol

Fah

Ensembl Gene

ENSMUSG00000030630

Gene Name

fumarylacetoacetate hydrolase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84585159-84606722 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84594835 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 239 (I239F)

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 damaging
Transcript: ENSMUST00000032865
AA Change: I239F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032865
Gene: ENSMUSG00000030630
AA Change: I239F

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,356,949	I24K	probably benign	Het
Adamts9	A	T	6: 92,872,335	C467S	probably damaging	Het
Adcy7	G	A	8: 88,325,479	R925Q	probably damaging	Het
Akap6	G	A	12: 53,140,215	G1471S	probably damaging	Het
Ap2b1	T	C	11: 83,342,679	V506A	probably damaging	Het
Apob	A	G	12: 8,001,814	I1113M	probably damaging	Het
Arsg	A	T	11: 109,517,336	N105Y	probably damaging	Het
Blm	T	A	7: 80,481,475	Y872F	probably damaging	Het
Btaf1	A	T	19: 36,983,617	N797Y	probably benign	Het
Camsap1	T	C	2: 25,956,308	E201G	probably damaging	Het
Ccdc122	T	A	14: 77,042,069		probably null	Homo
Ccdc141	A	G	2: 77,170,401	V29A	probably damaging	Het
Cd244	T	A	1: 171,577,879	D277E	probably benign	Het
Cfap157	T	C	2: 32,780,678	Y186C	probably damaging	Het
Ciita	C	T	16: 10,511,910	A686V	probably damaging	Het
Clptm1l	T	C	13: 73,617,765		probably null	Het
Col16a1	C	T	4: 130,055,994	P50L	probably damaging	Het
Crisp3	A	T	17: 40,235,913	V38D	probably damaging	Het
Cyfip2	T	C	11: 46,221,346	E1010G	probably damaging	Het
Dvl3	G	A	16: 20,527,383	E488K	probably damaging	Het
Eed	C	A	7: 89,977,029	E45D	probably benign	Het
Eln	A	G	5: 134,725,774		probably benign	Het
Fbxw5	T	A	2: 25,502,436	Y77N	possibly damaging	Het
Garnl3	T	C	2: 33,006,821	E602G	possibly damaging	Het
Gkn3	A	T	6: 87,388,804	M11K	probably benign	Het
Glt1d1	A	G	5: 127,706,981	Y333C	probably damaging	Het
Gm10762	A	T	2: 128,967,170	Y86*	probably null	Het
Gm14496	A	G	2: 182,000,593	M686V	probably benign	Het
Gse1	T	A	8: 120,553,689		probably null	Het
Herc4	C	A	10: 63,317,418	T1035K	probably benign	Het
Hmcn2	T	A	2: 31,382,478	N1323K	probably damaging	Het
Hnrnpd	T	A	5: 99,966,166	E3D	probably damaging	Het
Htr7	T	A	19: 35,969,610	I335F	probably damaging	Het
Itgae	A	T	11: 73,145,592	I1119F	probably benign	Het
Lcn11	T	C	2: 25,779,091	F137S	probably benign	Het
Lrp3	T	G	7: 35,203,988	D311A	possibly damaging	Het
Lrrc1	G	T	9: 77,442,191	D364E	probably damaging	Het
Lrrc37a	T	A	11: 103,492,179	E2456V	unknown	Het
Lrriq1	T	C	10: 103,227,184	Y87C	probably damaging	Het
Mcc	A	T	18: 44,468,390	L449*	probably null	Het
Mcc	A	T	18: 44,468,391	L624M	probably damaging	Het
Mcm9	T	C	10: 53,612,839	T496A	probably damaging	Het
Myef2	T	A	2: 125,116,682	D109V	probably damaging	Het
Myom3	C	T	4: 135,762,513		probably benign	Het
Nanos1	G	T	19: 60,756,539	G92W	possibly damaging	Het
Ncor1	T	A	11: 62,381,414	K84*	probably null	Het
Neb	T	A	2: 52,291,082	D1171V	probably benign	Het
Notch3	A	G	17: 32,158,217	W267R	probably damaging	Het
Olfr1167	A	T	2: 88,150,016	M1K	probably null	Het
Olfr26	A	C	9: 38,855,637	T192P	probably damaging	Het
Per2	A	G	1: 91,427,763	S758P	probably benign	Het
Pi4k2a	A	G	19: 42,090,932	Q144R	probably benign	Het
Pirb	A	T	7: 3,717,393	V327E	probably benign	Het
Pla2g4a	C	T	1: 149,872,616	W272*	probably null	Het
Plekha4	T	A	7: 45,530,576	M1K	probably null	Het
Ppt2	A	G	17: 34,625,920	C117R	probably damaging	Het
Prph	A	T	15: 99,056,386	I222F	probably damaging	Het
Rbm43	T	C	2: 51,925,576	D211G	probably damaging	Het
Rims2	A	G	15: 39,534,855	D1072G	probably benign	Het
Rnf123	G	T	9: 108,068,332	Q380K	possibly damaging	Het
Rnf145	T	C	11: 44,525,105	F49S	probably damaging	Het
Sall4	A	G	2: 168,755,708	I404T	probably damaging	Het
Slc25a39	G	A	11: 102,404,460	P228L	probably damaging	Het
Tbc1d14	T	C	5: 36,520,481	T377A	possibly damaging	Het
Tbc1d17	A	G	7: 44,841,625	I555T	probably benign	Het
Tmem131l	A	T	3: 83,922,408	S980T	probably damaging	Het
Tmem14a	G	T	1: 21,229,438	L97F	possibly damaging	Het
Tmem98	T	C	11: 80,812,635	V26A	probably benign	Het
Tmppe	G	T	9: 114,405,652	G340W	probably damaging	Het
Tsc1	T	C	2: 28,665,601	S237P	probably damaging	Het
Ttc30b	T	A	2: 75,937,104	N435I	possibly damaging	Het
Ubr4	C	T	4: 139,444,671	R2992W	probably damaging	Het
Ugt2a2	A	G	5: 87,460,459	V673A	possibly damaging	Het
Vmn2r19	T	C	6: 123,316,108	Y370H	possibly damaging	Het
Vmn2r20	A	G	6: 123,396,383	F500S	possibly damaging	Het
Zc3h7b	A	G	15: 81,769,051	Y47C	probably benign	Het
Zdhhc13	A	G	7: 48,815,560	E406G	possibly damaging	Het
Zfp418	T	C	7: 7,182,600	S521P	possibly 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
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
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'- AGCATCACCATGTCTCAGTATCAG -3'
(R):5'- ATTGTTCCCTAGCACAGCACC -3'

Sequencing Primer
(F):5'- ACCATGTCTCAGTATCAGAGGGC -3'
(R):5'- GCACCTCCAAGGACCTCTGTC -3'

Posted On

2018-06-06