Mutagenetix > Incidental Mutations

Incidental Mutation 'R6086:Fah'

482483

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 #

R6086 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84585159-84606722 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84588912 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 367 (W367R)

Ref Sequence

ENSEMBL: ENSMUSP00000032865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032865]

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: W367R

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

SMART Domains

Protein: ENSMUSP00000032865
Gene: ENSMUSG00000030630
AA Change: W367R

Domain	Start	End	E-Value	Type
Pfam:FAA_hydrolase_N	15	118	1.7e-36	PFAM
Pfam:FAA_hydrolase	123	413	1e-58	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

96% (65/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110062M04Rik	A	G	6: 34,874,620	S127P	probably damaging	Het
Apob	G	T	12: 8,015,164	K4044N	probably benign	Het
Asic4	G	A	1: 75,473,243	V468I	possibly damaging	Het
Atf4	T	A	15: 80,257,453	V348D	probably benign	Het
Bcl9	A	G	3: 97,205,524	V1205A	possibly damaging	Het
Bora	A	T	14: 99,062,294	Q234L	possibly damaging	Het
Cap2	C	A	13: 46,635,712	P131Q	probably damaging	Het
Cdyl2	A	G	8: 116,589,296	S318P	probably damaging	Het
Ces1a	T	G	8: 93,027,353	N341H	probably benign	Het
Crlf3	C	T	11: 80,048,610	V352M	possibly damaging	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dnah2	T	C	11: 69,516,008	T529A	probably benign	Het
Dnah9	A	C	11: 66,085,174	S1350A	probably benign	Het
Dnah9	C	T	11: 65,989,915	D2619N	probably damaging	Het
Dnajc6	C	T	4: 101,597,807	S65L	probably benign	Het
Dnm3	C	A	1: 162,321,033	R256S	probably damaging	Het
Enpp2	T	C	15: 54,845,834	D795G	probably damaging	Het
Fam220a	T	A	5: 143,563,041	H69Q	probably benign	Het
Fgd3	T	A	13: 49,287,296	T220S	probably benign	Het
Furin	G	T	7: 80,395,431	H248Q	probably damaging	Het
Gabrg1	A	T	5: 70,754,053	L410Q	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,663,803		probably null	Het
Gm9742	T	C	13: 8,030,033		noncoding transcript	Het
Gpcpd1	A	G	2: 132,538,114	S252P	probably damaging	Het
Hnrnpdl	C	T	5: 100,036,481	G398S	probably null	Het
Hspa1l	T	C	17: 34,978,155	V390A	possibly damaging	Het
Htr3b	T	C	9: 48,947,298	S94G	probably benign	Het
Klf10	G	T	15: 38,296,937	S271R	probably benign	Het
Klk1b3	T	A	7: 44,201,734	L197Q	probably damaging	Het
Knl1	A	G	2: 119,094,068	R1861G	probably damaging	Het
Lexm	T	C	4: 106,613,206	E218G	probably damaging	Het
Myo9a	C	T	9: 59,790,057	Q374*	probably null	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Ncapg	T	C	5: 45,693,236	L728P	probably damaging	Het
Nfxl1	A	C	5: 72,541,019	F228V	probably benign	Het
Oc90	A	G	15: 65,889,711	S153P	probably damaging	Het
Olfr1230	A	G	2: 89,296,854	C139R	probably damaging	Het
Olfr1458	A	G	19: 13,102,381	*308Q	probably null	Het
Pbk	A	T	14: 65,815,253	K182*	probably null	Het
Piezo1	A	G	8: 122,501,657	F296S	possibly damaging	Het
Psmg1	T	A	16: 95,980,044	Y288F	probably damaging	Het
Rab11fip4	G	A	11: 79,683,480	D132N	probably damaging	Het
Recql4	T	C	15: 76,704,587	D1051G	probably damaging	Het
Reep5	A	C	18: 34,357,131	D104E	probably damaging	Het
Rnpepl1	T	C	1: 92,917,681	Y441H	probably damaging	Het
Scnm1	T	C	3: 95,130,285	I157V	probably benign	Het
Sema3b	T	C	9: 107,600,848	D446G	probably damaging	Het
Sema4d	C	T	13: 51,713,745	R190Q	probably damaging	Het
Slco3a1	G	A	7: 74,318,590	R461C	possibly damaging	Het
Tcrg-C3	T	C	13: 19,263,284	S136P	probably damaging	Het
Tenm2	T	A	11: 36,008,646	I2562F	possibly damaging	Het
Thegl	T	A	5: 77,061,305	V458E	probably benign	Het
Tmem40	G	T	6: 115,733,667	N120K	possibly damaging	Het
Tmod3	T	C	9: 75,500,123	H351R	probably benign	Het
Tnn	C	T	1: 160,086,120	V1268M	probably damaging	Het
Tpmt	T	A	13: 47,035,030	D132V	probably damaging	Het
Trib1	G	A	15: 59,654,475	R298H	probably damaging	Het
Tsen2	A	G	6: 115,560,075	E264G	probably benign	Het
Urah	A	G	7: 140,836,798	I60M	probably benign	Het
Vmn2r26	T	A	6: 124,039,560	S328T	possibly damaging	Het
Vmn2r27	G	C	6: 124,191,999	T724R	probably damaging	Het
Washc2	A	G	6: 116,256,216		probably null	Het
Wdyhv1	C	A	15: 58,150,628	A71E	probably damaging	Het
Zfp955b	T	A	17: 33,302,504	W316R	probably benign	Het
Zranb2	T	C	3: 157,543,246		probably null	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
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'- ATCCAGGAAGGGCTGTGAGTAC -3'
(R):5'- GCCTCTGGTACACTATAGGCAC -3'

Posted On

2017-07-14