Mutagenetix > Incidental Mutation

Incidental Mutation 'R3620:Fah'

268595

Institutional Source

Beutler Lab

Gene Symbol

Fah

Ensembl Gene

ENSMUSG00000030630

Gene Name

fumarylacetoacetate hydrolase

Synonyms

swst

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84234367-84255150 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 84238159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000032865

SMART Domains

Protein: ENSMUSP00000032865
Gene: ENSMUSG00000030630

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

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (44/44)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,226,864 (GRCm39)	M473T	probably benign	Het
Asxl1	C	A	2: 153,199,075 (GRCm39)	R76S	probably damaging	Het
Bhlhe41	C	A	6: 145,808,733 (GRCm39)	G360C	possibly damaging	Het
Ccdc88a	T	C	11: 29,380,227 (GRCm39)	I201T	probably benign	Het
Ccng1	T	C	11: 40,642,992 (GRCm39)	T152A	probably benign	Het
Cep192	T	C	18: 67,962,928 (GRCm39)	V648A	probably benign	Het
Cldn16	T	A	16: 26,296,302 (GRCm39)	F93I	possibly damaging	Het
Csmd1	T	C	8: 16,042,684 (GRCm39)	S2350G	probably benign	Het
Enpp6	T	C	8: 47,518,540 (GRCm39)	W223R	probably benign	Het
Fat2	A	T	11: 55,147,521 (GRCm39)	V3907D	probably damaging	Het
Fsip2	C	A	2: 82,810,602 (GRCm39)	T2307K	probably benign	Het
Gcg	T	C	2: 62,307,279 (GRCm39)	E94G	probably damaging	Het
Gramd1b	C	A	9: 40,366,842 (GRCm39)	R42L	probably benign	Het
H2bc9	C	A	13: 23,727,324 (GRCm39)	V67L	probably benign	Het
Hdc	T	A	2: 126,458,187 (GRCm39)	Y45F	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Igsf10	T	G	3: 59,243,752 (GRCm39)	D194A	probably damaging	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Lrpprc	A	T	17: 85,077,452 (GRCm39)	C412S	probably benign	Het
Mga	T	A	2: 119,747,149 (GRCm39)	D433E	probably damaging	Het
Myo15a	A	T	11: 60,369,468 (GRCm39)	S743C	possibly damaging	Het
Myo15b	T	G	11: 115,762,013 (GRCm39)	L1176R	possibly damaging	Het
Ndor1	T	C	2: 25,138,047 (GRCm39)	Q526R	probably damaging	Het
Nipbl	A	G	15: 8,362,508 (GRCm39)	I1429T	probably damaging	Het
Or1d2	T	A	11: 74,256,050 (GRCm39)	L185Q	probably damaging	Het
Or4c126	T	C	2: 89,824,196 (GRCm39)	I153T	probably damaging	Het
Or4k38	T	A	2: 111,165,689 (GRCm39)	I245L	probably benign	Het
Otogl	T	C	10: 107,710,232 (GRCm39)	D619G	probably damaging	Het
Pa2g4	C	G	10: 128,399,464 (GRCm39)	E67Q	probably damaging	Het
Pnpla1	C	T	17: 29,096,362 (GRCm39)	A147V	probably damaging	Het
Prdm13	A	G	4: 21,683,532 (GRCm39)	Y143H	unknown	Het
Rad23a	A	G	8: 85,567,193 (GRCm39)	M1T	probably null	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Slc10a2	A	T	8: 5,154,909 (GRCm39)	I92N	probably damaging	Het
Slc24a4	T	C	12: 102,185,222 (GRCm39)	F111L	probably damaging	Het
Sox11	T	C	12: 27,391,735 (GRCm39)	T225A	probably benign	Het
Thbs1	T	C	2: 117,951,640 (GRCm39)	V820A	probably benign	Het
Unc45a	G	T	7: 79,983,799 (GRCm39)	N332K	possibly damaging	Het
Vmn1r159	A	C	7: 22,542,258 (GRCm39)	I258S	possibly damaging	Het
Wdr31	A	T	4: 62,375,701 (GRCm39)	F251L	possibly damaging	Het
Wdr43	C	T	17: 71,957,601 (GRCm39)	T530M	probably benign	Het
Zfp445	C	T	9: 122,681,833 (GRCm39)	A703T	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
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'- GGAGACAGATTGTTCCAGTGTC -3'
(R):5'- CAGCCTATAGAGTAAGTGGGCC -3'

Sequencing Primer
(F):5'- CAGATGGGTACTCTTGGCCTAC -3'
(R):5'- CTCTGGTACACTATAGGCACAGG -3'

Posted On

2015-02-19