Mutagenetix > Incidental Mutation

Incidental Mutation 'R0245:Fah'

36172

Institutional Source

Beutler Lab

Gene Symbol

Fah

Ensembl Gene

ENSMUSG00000030630

Gene Name

fumarylacetoacetate hydrolase

Synonyms

swst

MMRRC Submission

038483-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0245 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84234367-84255150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 84244706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 222 (H222Q)

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 benign
Transcript: ENSMUST00000032865
AA Change: H222Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032865
Gene: ENSMUSG00000030630
AA Change: H222Q

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

0.0693

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.9%

Validation Efficiency

99% (73/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	A	G	8: 125,378,168 (GRCm39)		probably benign	Het
Actmap	T	A	7: 26,900,028 (GRCm39)	C98S	possibly damaging	Het
Adgrg6	T	A	10: 14,333,810 (GRCm39)		probably benign	Het
Adra2a	G	C	19: 54,035,840 (GRCm39)	V399L	probably damaging	Het
Arpc1b	A	G	5: 145,063,670 (GRCm39)	D306G	probably damaging	Het
Asic3	C	A	5: 24,618,836 (GRCm39)	R43S	probably damaging	Het
Astn2	T	C	4: 65,712,795 (GRCm39)	D615G	probably damaging	Het
Btbd2	A	T	10: 80,483,640 (GRCm39)	Y178N	probably damaging	Het
Cacna1c	T	C	6: 118,581,415 (GRCm39)	N1647D	probably benign	Het
Cacna2d4	A	T	6: 119,285,682 (GRCm39)	D803V	probably damaging	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Cmpk2	A	T	12: 26,519,517 (GRCm39)	D56V	probably benign	Het
Dnah7a	T	C	1: 53,540,685 (GRCm39)	Y2563C	probably damaging	Het
Dock7	T	C	4: 98,943,586 (GRCm39)	D552G	possibly damaging	Het
E2f7	C	A	10: 110,610,656 (GRCm39)	S427*	probably null	Het
Eps8	T	C	6: 137,456,126 (GRCm39)	D785G	probably benign	Het
Ereg	G	A	5: 91,222,659 (GRCm39)	C14Y	possibly damaging	Het
Fbxw16	T	A	9: 109,265,236 (GRCm39)	S432C	possibly damaging	Het
Fdps	A	G	3: 89,001,078 (GRCm39)	S334P	possibly damaging	Het
Fgf7	A	G	2: 125,877,875 (GRCm39)	K81E	probably benign	Het
Gfra1	T	C	19: 58,288,986 (GRCm39)	N153S	possibly damaging	Het
Golga1	A	G	2: 38,925,271 (GRCm39)	V351A	probably benign	Het
Got1	A	T	19: 43,492,946 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,746,457 (GRCm39)	Y1271C	probably damaging	Het
Gtf3c4	A	G	2: 28,724,976 (GRCm39)	I252T	possibly damaging	Het
Gucy1a1	A	G	3: 82,016,094 (GRCm39)	I298T	possibly damaging	Het
Hivep1	A	G	13: 42,317,766 (GRCm39)	I2081V	possibly damaging	Het
Hps3	A	T	3: 20,066,960 (GRCm39)	C535*	probably null	Het
Hspg2	T	C	4: 137,242,033 (GRCm39)	F589S	probably damaging	Het
Itgb8	T	A	12: 119,154,290 (GRCm39)	N249I	probably damaging	Het
Itprid1	A	G	6: 55,874,992 (GRCm39)	E314G	probably damaging	Het
Kdm4a	T	C	4: 118,032,886 (GRCm39)	D60G	probably benign	Het
Kng2	A	T	16: 22,830,931 (GRCm39)		probably benign	Het
Marchf4	A	T	1: 72,573,940 (GRCm39)	D119E	probably benign	Het
Mrpl34	T	C	8: 71,917,719 (GRCm39)		probably benign	Het
Ncoa6	C	T	2: 155,233,131 (GRCm39)	G2059D	probably benign	Het
Nhsl1	A	G	10: 18,400,856 (GRCm39)	K660R	probably damaging	Het
Nr2c2ap	T	C	8: 70,584,228 (GRCm39)	V6A	possibly damaging	Het
Or10j3b	T	A	1: 173,043,524 (GRCm39)	I102N	possibly damaging	Het
Or4c29	C	A	2: 88,740,219 (GRCm39)	D173Y	possibly damaging	Het
Or4k52	A	G	2: 111,610,680 (GRCm39)	N5S	probably damaging	Het
Or5k14	A	T	16: 58,693,229 (GRCm39)	Y95N	probably benign	Het
Or7g33	C	A	9: 19,448,408 (GRCm39)	V273L	probably benign	Het
Oscar	C	T	7: 3,614,573 (GRCm39)		probably benign	Het
Pkhd1	T	C	1: 20,610,624 (GRCm39)	S1046G	probably benign	Het
Ptk6	T	C	2: 180,844,284 (GRCm39)	D5G	probably benign	Het
Rgs12	A	G	5: 35,187,424 (GRCm39)	H486R	probably benign	Het
Rnf111	C	T	9: 70,361,113 (GRCm39)		probably benign	Het
Rnf17	A	G	14: 56,676,066 (GRCm39)	Y309C	probably damaging	Het
Rnf19a	A	T	15: 36,253,178 (GRCm39)	I387N	probably damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sdk1	A	G	5: 141,940,713 (GRCm39)	T494A	probably benign	Het
Serac1	G	T	17: 6,102,031 (GRCm39)	D384E	probably damaging	Het
Sez6l	T	C	5: 112,623,432 (GRCm39)	M40V	probably benign	Het
Slc17a5	A	G	9: 78,448,206 (GRCm39)	I416T	probably benign	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Spata32	C	T	11: 103,099,921 (GRCm39)	A195T	probably damaging	Het
Srrd	A	G	5: 112,485,394 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,067 (GRCm39)		probably benign	Het
Supt3	T	C	17: 45,347,662 (GRCm39)	V208A	probably benign	Het
Taok3	G	A	5: 117,390,744 (GRCm39)		probably benign	Het
Tbxas1	G	T	6: 39,004,702 (GRCm39)	R316S	probably benign	Het
Tgfbrap1	A	T	1: 43,114,752 (GRCm39)	I116N	possibly damaging	Het
Tm7sf3	T	C	6: 146,520,107 (GRCm39)	T260A	possibly damaging	Het
Top2a	T	C	11: 98,900,922 (GRCm39)	I556V	probably benign	Het
Uroc1	A	G	6: 90,321,179 (GRCm39)	M252V	probably damaging	Het
Xpo4	G	T	14: 57,867,697 (GRCm39)	H183Q	probably damaging	Het
Zcchc17	T	A	4: 130,230,947 (GRCm39)	I81L	probably benign	Het
Zfp455	A	T	13: 67,355,899 (GRCm39)	Y389F	probably damaging	Het

Other mutations in Fah

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01798:Fah	APN	7	84,238,837 (GRCm39)	missense	probably benign	0.33
IGL02374:Fah	APN	7	84,254,909 (GRCm39)	missense	probably benign	0.02
IGL02975:Fah	APN	7	84,250,287 (GRCm39)	missense	probably benign	0.00
IGL03403:Fah	APN	7	84,242,417 (GRCm39)	missense	probably damaging	1.00
R0689:Fah	UTSW	7	84,242,392 (GRCm39)	critical splice donor site	probably null
R1173:Fah	UTSW	7	84,250,344 (GRCm39)	start codon destroyed	probably null	1.00
R1413:Fah	UTSW	7	84,242,420 (GRCm39)	missense	probably damaging	0.99
R1995:Fah	UTSW	7	84,251,389 (GRCm39)	missense	probably damaging	1.00
R2150:Fah	UTSW	7	84,244,042 (GRCm39)	missense	probably damaging	1.00
R3612:Fah	UTSW	7	84,234,498 (GRCm39)	missense	probably damaging	0.98
R3620:Fah	UTSW	7	84,238,159 (GRCm39)	splice site	probably null
R4360:Fah	UTSW	7	84,238,856 (GRCm39)	missense	probably damaging	1.00
R4386:Fah	UTSW	7	84,248,344 (GRCm39)	missense	probably damaging	1.00
R4923:Fah	UTSW	7	84,251,260 (GRCm39)	intron	probably benign
R5151:Fah	UTSW	7	84,250,259 (GRCm39)	missense	possibly damaging	0.87
R5443:Fah	UTSW	7	84,241,604 (GRCm39)	missense	probably damaging	0.96
R5470:Fah	UTSW	7	84,242,393 (GRCm39)	critical splice donor site	probably null
R5976:Fah	UTSW	7	84,243,949 (GRCm39)	missense	probably benign	0.00
R6086:Fah	UTSW	7	84,238,120 (GRCm39)	missense	probably damaging	1.00
R6272:Fah	UTSW	7	84,244,753 (GRCm39)	missense	probably damaging	1.00
R6502:Fah	UTSW	7	84,244,043 (GRCm39)	missense	probably damaging	1.00
R6586:Fah	UTSW	7	84,242,468 (GRCm39)	missense	probably benign	0.04
R7522:Fah	UTSW	7	84,246,282 (GRCm39)	missense	probably benign	0.00
R7832:Fah	UTSW	7	84,244,686 (GRCm39)	missense	probably damaging	1.00
R8535:Fah	UTSW	7	84,250,305 (GRCm39)	missense	probably benign
R8823:Fah	UTSW	7	84,254,925 (GRCm39)	missense	possibly damaging	0.85
RF002:Fah	UTSW	7	84,238,836 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACAGAGTCAGAAGTCTGCATGG -3'
(R):5'- TTGTCAATCCTCCTGGAATGAGCAC -3'

Sequencing Primer
(F):5'- GGTATCACCCCTGTAGTACTTAG -3'
(R):5'- GTGAGTAGACTTCCCACCTTAGAG -3'

Posted On

2013-05-09