Mutagenetix > Incidental Mutation

Incidental Mutation 'R4360:Fah'

324853

Institutional Source

Beutler Lab

Gene Symbol

Fah

Ensembl Gene

ENSMUSG00000030630

Gene Name

fumarylacetoacetate hydrolase

Synonyms

swst

MMRRC Submission

041111-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4360 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84234367-84255150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84238856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 330 (L330F)

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: L330F

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

SMART Domains

Protein: ENSMUSP00000032865
Gene: ENSMUSG00000030630
AA Change: L330F

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

Meta Mutation Damage Score

0.8977

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (50/50)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I07Rik	T	C	14: 67,175,850 (GRCm39)		noncoding transcript	Het
Adgra3	T	C	5: 50,147,552 (GRCm39)	E496G	possibly damaging	Het
Atg14	C	G	14: 47,805,827 (GRCm39)	E13Q	probably benign	Het
BC023105	G	T	18: 60,575,073 (GRCm39)		noncoding transcript	Het
Chd6	A	G	2: 160,791,776 (GRCm39)	V2527A	possibly damaging	Het
Csn1s2a	G	T	5: 87,929,700 (GRCm39)	V100L	possibly damaging	Het
Fmo2	T	C	1: 162,709,583 (GRCm39)	N268S	probably damaging	Het
Foxg1	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	12: 49,431,475 (GRCm39)		probably benign	Het
Frmd4a	A	T	2: 4,606,052 (GRCm39)	H287L	probably damaging	Het
G2e3	T	A	12: 51,410,197 (GRCm39)		probably benign	Het
Gm1758	A	T	16: 14,324,215 (GRCm39)		noncoding transcript	Het
Gm7204	T	C	16: 48,039,196 (GRCm39)		noncoding transcript	Het
Gm829	T	C	4: 45,718,819 (GRCm39)		noncoding transcript	Het
Hspa14	A	G	2: 3,503,560 (GRCm39)	V116A	possibly damaging	Het
Hspa4	T	C	11: 53,155,919 (GRCm39)	Y662C	probably damaging	Het
Islr	T	A	9: 58,064,887 (GRCm39)	N207Y	probably damaging	Het
Lipc	T	C	9: 70,759,864 (GRCm39)		probably benign	Het
Ncor2	A	G	5: 125,106,036 (GRCm39)	S1546P	probably damaging	Het
Or13a25	T	C	7: 140,247,730 (GRCm39)	F170L	probably damaging	Het
Or56a3	A	C	7: 104,735,460 (GRCm39)	E179A	probably damaging	Het
Or7g18	G	A	9: 18,787,013 (GRCm39)	C127Y	probably damaging	Het
Parp4	A	G	14: 56,866,661 (GRCm39)	D1075G	possibly damaging	Het
Pkp2	A	G	16: 16,086,546 (GRCm39)	I736V	probably benign	Het
Plekha8	T	C	6: 54,599,171 (GRCm39)	I235T	probably benign	Het
Polq	A	G	16: 36,880,701 (GRCm39)	D955G	probably benign	Het
Pramel16	A	G	4: 143,677,433 (GRCm39)	F49L	possibly damaging	Het
Psmd1	A	G	1: 86,061,459 (GRCm39)	K890E	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scpep1	A	G	11: 88,821,070 (GRCm39)	Y366H	possibly damaging	Het
Slc18a3	A	G	14: 32,185,882 (GRCm39)	V167A	probably benign	Het
Sp8	A	G	12: 118,812,400 (GRCm39)	D85G	possibly damaging	Het
Stard3nl	G	A	13: 19,554,654 (GRCm39)	S144L	probably damaging	Het
Stk4	A	G	2: 163,930,879 (GRCm39)	E160G	possibly damaging	Het
Tbcb	T	C	7: 29,926,460 (GRCm39)	N119S	probably benign	Het
Tnc	G	T	4: 63,935,161 (GRCm39)	R592S	probably benign	Het
Trem3	T	A	17: 48,556,801 (GRCm39)	S91T	probably benign	Het
Trpc6	A	G	9: 8,610,267 (GRCm39)	E245G	probably benign	Het
Usp40	C	T	1: 87,880,083 (GRCm39)	R1036H	probably damaging	Het
Usp47	G	T	7: 111,654,139 (GRCm39)	G112C	probably damaging	Het
Wdr35	T	C	12: 9,024,149 (GRCm39)		probably benign	Het
Zc3h14	A	G	12: 98,746,456 (GRCm39)	K555R	probably benign	Het
Zfp26	T	C	9: 20,349,869 (GRCm39)	S232G	probably benign	Het
Zfp811	T	C	17: 33,017,432 (GRCm39)	T202A	probably benign	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
R0245:Fah	UTSW	7	84,244,706 (GRCm39)	missense	probably benign
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
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'- TGTGTAGCAGGGAAGCACTC -3'
(R):5'- ACAAGGTGGGCTACAACCTC -3'

Sequencing Primer
(F):5'- TGTAGCAGGGAAGCACTCTATCC -3'
(R):5'- TGGGCTACAACCTCAGCAG -3'

Posted On

2015-07-06