Mutagenetix > Incidental Mutation

Incidental Mutation 'R6272:Fah'

507393

Institutional Source

Beutler Lab

Gene Symbol

Fah

Ensembl Gene

ENSMUSG00000030630

Gene Name

fumarylacetoacetate hydrolase

Synonyms

swst

MMRRC Submission

044442-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84234367-84255150 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 84244753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 137 (G137C)

Ref Sequence

ENSEMBL: ENSMUSP00000121439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032865] [ENSMUST00000128460]

AlphaFold

P35505

Predicted Effect

probably damaging
Transcript: ENSMUST00000032865
AA Change: G207C

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

SMART Domains

Protein: ENSMUSP00000032865
Gene: ENSMUSG00000030630
AA Change: G207C

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 damaging
Transcript: ENSMUST00000128460
AA Change: G137C

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

SMART Domains

Protein: ENSMUSP00000121439
Gene: ENSMUSG00000030630
AA Change: G137C

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

0.9461

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.3%

Validation Efficiency

98% (55/56)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	T	5: 50,166,791 (GRCm39)	M187K	possibly damaging	Het
Adgrg3	A	G	8: 95,762,889 (GRCm39)	I189V	noncoding transcript	Het
Ampd1	A	G	3: 102,992,699 (GRCm39)	K147R	possibly damaging	Het
Apbb2	T	C	5: 66,468,415 (GRCm39)	T561A	probably damaging	Het
Arfgef3	A	T	10: 18,522,711 (GRCm39)	D438E	probably benign	Het
Atxn1	T	A	13: 45,721,238 (GRCm39)	Q219L	possibly damaging	Het
AW551984	A	T	9: 39,509,333 (GRCm39)	D269E	probably benign	Het
Cryab	A	G	9: 50,665,825 (GRCm39)	K72R	possibly damaging	Het
Dbn1	G	A	13: 55,622,917 (GRCm39)	A522V	probably benign	Het
Dip2a	A	T	10: 76,122,241 (GRCm39)	*158R	probably null	Het
Edrf1	C	T	7: 133,239,537 (GRCm39)		probably benign	Het
Ern2	A	T	7: 121,775,869 (GRCm39)	D408E	probably benign	Het
F830016B08Rik	T	C	18: 60,433,150 (GRCm39)	S78P	probably damaging	Het
Foxd3	A	G	4: 99,544,977 (GRCm39)	D39G	probably damaging	Het
Gprin3	G	A	6: 59,330,316 (GRCm39)	Q664*	probably null	Het
H2-Ob	T	C	17: 34,461,618 (GRCm39)	I119T	probably benign	Het
H3c6	A	T	13: 23,746,400 (GRCm39)	V47E	probably damaging	Het
Hmgcll1	G	A	9: 76,037,627 (GRCm39)	G174R	probably damaging	Het
Kbtbd11	T	A	8: 15,079,118 (GRCm39)	C572*	probably null	Het
Kynu	A	T	2: 43,525,001 (GRCm39)	N315Y	probably benign	Het
Map1lc3b	G	A	8: 122,323,429 (GRCm39)	E100K	probably benign	Het
Matn2	T	A	15: 34,355,753 (GRCm39)	Q33L	possibly damaging	Het
Mettl8	T	C	2: 70,806,419 (GRCm39)		probably null	Het
Neto1	A	T	18: 86,512,940 (GRCm39)	N312Y	probably damaging	Het
Nhsl1	A	G	10: 18,400,253 (GRCm39)	D493G	probably benign	Het
Nup210l	A	G	3: 90,077,331 (GRCm39)	E889G	possibly damaging	Het
Or13l2	A	G	3: 97,318,207 (GRCm39)	F97L	probably benign	Het
Or14c42-ps1	A	G	7: 86,211,081 (GRCm39)	Y47C	unknown	Het
Or2y13	C	A	11: 49,414,953 (GRCm39)	S134R	possibly damaging	Het
Or5ac25	A	C	16: 59,181,948 (GRCm39)	M211R	possibly damaging	Het
Or5w20	G	A	2: 87,727,001 (GRCm39)	V153I	probably benign	Het
Or6k2	C	T	1: 173,986,741 (GRCm39)	T134I	probably benign	Het
Or8g4	A	T	9: 39,661,816 (GRCm39)	M45L	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Phc2	A	G	4: 128,603,440 (GRCm39)	Y190C	probably damaging	Het
Platr25	T	C	13: 62,820,811 (GRCm39)	T347A	possibly damaging	Het
Plec	T	C	15: 76,059,053 (GRCm39)	E3655G	probably damaging	Het
Plekhg3	A	T	12: 76,623,619 (GRCm39)	Q954L	probably benign	Het
Pnpla1	G	A	17: 29,100,342 (GRCm39)	G403E	probably benign	Het
Prdm4	G	A	10: 85,743,694 (GRCm39)	T187I	possibly damaging	Het
Prg4	T	C	1: 150,330,517 (GRCm39)		probably benign	Het
Prpf18	G	A	2: 4,638,258 (GRCm39)	R312W	probably damaging	Het
Rnf213	T	A	11: 119,305,374 (GRCm39)	V535D	probably damaging	Het
Rtcb	A	T	10: 85,791,638 (GRCm39)	N39K	probably damaging	Het
Slc4a3	G	A	1: 75,531,341 (GRCm39)		probably null	Het
Szt2	A	C	4: 118,231,487 (GRCm39)		probably benign	Het
Tasor2	C	T	13: 3,631,891 (GRCm39)	R870H	possibly damaging	Het
Tfap2e	A	T	4: 126,615,657 (GRCm39)	V259D	probably damaging	Het
Trav19	A	G	14: 54,083,255 (GRCm39)	D110G	probably damaging	Het
Ttc17	A	C	2: 94,189,100 (GRCm39)	C749W	probably damaging	Het
Ttc8	A	G	12: 98,948,753 (GRCm39)	K490E	possibly damaging	Het
Ube4b	A	G	4: 149,471,590 (GRCm39)	S99P	probably damaging	Het
Ubqln3	C	T	7: 103,791,385 (GRCm39)	R235H	probably damaging	Het
Vmn2r61	A	T	7: 41,949,242 (GRCm39)	D554V	probably damaging	Het
Vmn2r70	A	T	7: 85,208,194 (GRCm39)	V761E	probably damaging	Het
Vmn2r97	T	C	17: 19,167,861 (GRCm39)	I705T	possibly damaging	Het
Wwox	G	A	8: 115,215,692 (GRCm39)	C155Y	probably damaging	Het
Zfp451	T	C	1: 33,842,325 (GRCm39)		probably benign	Het
Zfp582	C	T	7: 6,356,844 (GRCm39)	P219L	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
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
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
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'- ACTCAGGGAAGCTGTGACTG -3'
(R):5'- TAGACTTCCCACCTTAGAGACC -3'

Sequencing Primer
(F):5'- GTCAGAAGTCTGCATGGTATCACC -3'
(R):5'- CCCAGGGAAGTAATGCCAGGTC -3'

Posted On

2018-03-15