Mutagenetix > Incidental Mutations

Incidental Mutation 'R7832:Fah'

605703

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 #

R7832 (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 84595478 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 229 (V229A)

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: V229A

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

SMART Domains

Protein: ENSMUSP00000032865
Gene: ENSMUSG00000030630
AA Change: V229A

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

Meta Mutation Damage Score

0.4573

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (78/80)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd11	G	A	5: 135,009,800	C30Y	probably benign	Het
Akr1c20	C	T	13: 4,512,672	V95M	probably damaging	Het
Ano7	A	G	1: 93,394,473	D401G	probably benign	Het
Arhgef10l	G	A	4: 140,578,305	T176I	possibly damaging	Het
Armc2	A	C	10: 41,966,796	V337G	probably damaging	Het
Atp6v0d2	T	A	4: 19,922,400	Y33F	probably benign	Het
Banp	A	G	8: 122,020,552	S447G	probably benign	Het
Car8	T	A	4: 8,238,860	Y32F	possibly damaging	Het
Ccdc188	C	T	16: 18,218,675	P124S	probably damaging	Het
Cdc23	A	T	18: 34,647,019	D85E	probably benign	Het
Cnot6l	T	C	5: 96,094,225	E213G	possibly damaging	Het
Cntnap4	A	G	8: 112,757,481	T389A	probably benign	Het
Cramp1l	A	T	17: 24,983,222	C429S	probably damaging	Het
Crygn	T	C	5: 24,756,074	H78R	probably benign	Het
D630003M21Rik	T	A	2: 158,217,668	D104V	probably damaging	Het
Dcaf10	T	G	4: 45,348,196	H217Q	probably damaging	Het
Dmrtb1	C	T	4: 107,683,982	V61M	probably benign	Het
Dnaic1	A	G	4: 41,605,823	E271G	probably benign	Het
Efr3a	G	A	15: 65,829,830	V198I	probably benign	Het
Emsy	G	A	7: 98,639,853	T79M	probably damaging	Het
Ergic1	A	G	17: 26,634,475	D145G	probably damaging	Het
Fam196b	A	G	11: 34,403,034	T359A	probably benign	Het
Fam76a	G	A	4: 132,902,031	T270I	probably damaging	Het
Fat4	A	T	3: 39,001,204	M4191L	probably benign	Het
Fbxl22	G	T	9: 66,511,717	R213S	probably benign	Het
Fktn	T	C	4: 53,734,859	F127L	probably benign	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,609,203		probably benign	Het
Gabbr2	A	T	4: 46,734,096	S541T	probably benign	Het
Gm7489	A	G	15: 53,886,006	H158R	unknown	Het
Greb1l	G	C	18: 10,542,056	E1268Q	probably benign	Het
H2-D1	A	G	17: 35,263,872	D126G	probably damaging	Het
Ikzf3	T	A	11: 98,518,699	T13S	probably benign	Het
Il23r	T	C	6: 67,423,862	T495A	probably benign	Het
Irf5	A	G	6: 29,535,462	T230A	probably benign	Het
Itga2b	A	T	11: 102,457,282	I831N	probably damaging	Het
Itgb4	A	G	11: 116,000,261	D1168G	probably damaging	Het
Kcnma1	G	T	14: 23,390,923	P605Q	probably benign	Het
Larp7	A	T	3: 127,544,267	M381K	possibly damaging	Het
Lfng	G	A	5: 140,612,833	G269D	probably benign	Het
Liph	T	C	16: 21,962,236	I335V	probably benign	Het
Map2k2	A	T	10: 81,118,206	I169F	possibly damaging	Het
Mmrn1	T	A	6: 60,987,060		probably null	Het
Nod2	A	G	8: 88,660,797		probably null	Het
Olfr1413	T	C	1: 92,573,497	F109L	probably benign	Het
Olfr1453	T	A	19: 13,027,996	Y111F	probably benign	Het
Olfr610	A	C	7: 103,506,379	L189R	probably damaging	Het
Pcdh20	G	T	14: 88,469,707	F52L	probably null	Het
Pkhd1	A	T	1: 20,502,999	N1894K	probably damaging	Het
Pla2r1	T	A	2: 60,504,192	D412V	possibly damaging	Het
Pole	T	G	5: 110,317,797	M1197R	probably benign	Het
Pom121l2	C	T	13: 21,983,878	T773I	possibly damaging	Het
Ppp2r5d	A	T	17: 46,684,546	M497K	probably benign	Het
Rbm45	G	T	2: 76,376,453	V270F	possibly damaging	Het
Ros1	A	T	10: 52,144,861	F673I	probably damaging	Het
Rtn4	T	A	11: 29,741,048	L1113*	probably null	Het
Scn4a	A	G	11: 106,322,015	I1388T	probably benign	Het
Sema3c	G	A	5: 17,694,847	V446I	probably damaging	Het
Six4	T	C	12: 73,112,634	Y176C	probably damaging	Het
Slc35a5	T	A	16: 45,144,207	K221M	possibly damaging	Het
Slc6a19	A	G	13: 73,693,063	I76T	probably damaging	Het
Slfn4	A	G	11: 83,186,593	D69G	probably damaging	Het
Smc6	T	C	12: 11,317,843	F1085L	probably benign	Het
Spatc1l	A	G	10: 76,562,390	S9G	probably benign	Het
Stx8	T	A	11: 68,109,280	I182N	probably damaging	Het
Sult2a8	A	T	7: 14,413,671	C232S	probably benign	Het
Susd4	G	A	1: 182,858,505	A207T	probably benign	Het
Svep1	G	A	4: 58,054,539	P3350S	probably benign	Het
Tbx20	A	T	9: 24,773,812	S12T	probably damaging	Het
Tfrc	A	G	16: 32,619,167	K346R	probably benign	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,399,157		probably null	Het
Umodl1	A	T	17: 30,973,692		probably null	Het
Vmn1r201	T	C	13: 22,475,368	F251L	possibly damaging	Het
Vmn1r230	A	G	17: 20,846,671	T41A	probably benign	Het
Vmn2r20	A	G	6: 123,385,923	L634P	probably damaging	Het
Vmn2r81	A	T	10: 79,293,830	R852W	probably damaging	Het
Wdr41	A	T	13: 95,015,193	N287I	probably benign	Het
Zfp202	A	G	9: 40,210,462	D285G	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
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
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'- AAAGCTACTCAGGGAAGCTG -3'
(R):5'- ACCTTAGAGACCCAGGGAAG -3'

Sequencing Primer
(F):5'- CTACTCAGGGAAGCTGTGACTG -3'
(R):5'- AAGTAATGCCAGGTCCTCAGGC -3'

Posted On

2019-12-20