Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01066:Fxn'

53222

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fxn

Ensembl Gene

ENSMUSG00000059363

Gene Name

frataxin

Synonyms

Frda

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01066

Quality Score

Status

Chromosome

Chromosomal Location

24261453-24280605 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 24267298 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117047 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081333] [ENSMUST00000123684]

Predicted Effect

probably benign
Transcript: ENSMUST00000081333

SMART Domains

Protein: ENSMUSP00000080081
Gene: ENSMUSG00000059363

Domain	Start	End	E-Value	Type
Frataxin_Cyay	87	198	1.61e-52	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123684

SMART Domains

Protein: ENSMUSP00000117047
Gene: ENSMUSG00000059363

Domain	Start	End	E-Value	Type
PDB:3T3T\|D	79	140	4e-23	PDB
SCOP:d1ekga_	87	125	2e-12	SMART
Blast:Frataxin_Cyay	87	133	1e-20	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132688

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit early post-implantation lethality, in the absence of intramitochondrial iron accumulation. Conditional knockouts, specific to striated muscle and neuron/striated muscle, show cardiac hypertrophy and large sensory neuron dysfunction, respectively. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
2300003K06Rik	T	A	11: 99,837,628	R130*	probably null	Het
9030624J02Rik	T	A	7: 118,773,011		probably null	Het
Abca12	T	A	1: 71,353,730	R117W	possibly damaging	Het
Agrn	A	G	4: 156,177,343	S497P	probably benign	Het
Alpk1	A	T	3: 127,680,225	S710T	probably benign	Het
Anapc4	T	A	5: 52,857,209	N471K	probably benign	Het
Ano3	A	T	2: 110,661,445	M879K	probably null	Het
Apoe	A	G	7: 19,696,600	L239P	probably damaging	Het
Ash1l	T	C	3: 88,984,635	Y1274H	probably damaging	Het
B3glct	C	T	5: 149,709,425	T80I	possibly damaging	Het
Casc1	C	T	6: 145,176,222	G624S	probably damaging	Het
Ccdc146	T	C	5: 21,319,542	T271A	probably benign	Het
Chd8	T	A	14: 52,217,766	N1088I	probably damaging	Het
Csnk1g2	T	C	10: 80,634,647		probably benign	Het
Daxx	T	A	17: 33,913,893	V627D	probably benign	Het
Dpy19l3	A	G	7: 35,692,767		probably benign	Het
Enc1	A	G	13: 97,245,314	I111V	probably benign	Het
Ep400	A	G	5: 110,668,199		probably benign	Het
Fig4	T	C	10: 41,285,417		probably benign	Het
Fkbp7	A	T	2: 76,672,908	L36*	probably null	Het
Gm10152	C	T	7: 144,763,256	P16L	unknown	Het
Hivep2	T	C	10: 14,149,024	V2194A	possibly damaging	Het
Hook3	T	G	8: 26,048,298	E525A	probably damaging	Het
Icam1	A	G	9: 21,016,105		probably null	Het
Ifngr1	C	T	10: 19,609,198	T315I	probably damaging	Het
Igsf10	A	G	3: 59,327,782		probably null	Het
Krt87	A	G	15: 101,438,385		probably null	Het
Lama1	T	A	17: 67,743,326	C311S	probably damaging	Het
Lig3	T	A	11: 82,797,315	M714K	possibly damaging	Het
Lrmp	T	C	6: 145,160,955	S222P	probably damaging	Het
Lypd5	C	T	7: 24,353,485	T189I	probably benign	Het
Mapk8ip3	C	T	17: 24,901,718	G807D	probably benign	Het
Met	T	C	6: 17,535,105		probably null	Het
Nlrp4g	C	A	9: 124,349,526		noncoding transcript	Het
Nlrp6	T	A	7: 140,921,796	V62D	possibly damaging	Het
Nme7	A	G	1: 164,345,430		probably null	Het
Olfr1034	A	G	2: 86,047,258	R259G	probably damaging	Het
Olfr1392	T	C	11: 49,293,630	I103T	possibly damaging	Het
Olfr507	T	C	7: 108,621,857	F15S	probably damaging	Het
Pcnx	G	A	12: 81,992,021	R2020Q	possibly damaging	Het
Pdzd2	T	A	15: 12,402,632		probably benign	Het
Pi4ka	A	G	16: 17,348,773		probably benign	Het
Pkdrej	T	G	15: 85,816,159	I1859L	probably benign	Het
Plcg1	A	T	2: 160,754,398	H638L	probably damaging	Het
Polr1b	C	T	2: 129,119,152	S677L	probably damaging	Het
Ppef2	A	G	5: 92,234,237	L533P	probably damaging	Het
Sh3rf1	T	A	8: 61,329,336	W171R	probably damaging	Het
Son	T	C	16: 91,660,136		probably benign	Het
Sycp1	A	G	3: 102,920,634	S266P	probably damaging	Het
Tedc1	A	G	12: 113,163,150	E344G	probably damaging	Het
Tkfc	T	C	19: 10,594,528	I381M	probably benign	Het
Tmprss6	T	C	15: 78,442,434	D1G	probably null	Het
Ttn	T	C	2: 76,752,426	T22708A	probably damaging	Het
Ubtf	T	C	11: 102,308,884		probably benign	Het
Vwc2l	T	C	1: 70,728,911	F45L	probably damaging	Het
Xpo7	T	C	14: 70,701,755	T154A	probably benign	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het

Other mutations in Fxn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Fxn	APN	19	24267350	missense	probably damaging	1.00
I2288:Fxn	UTSW	19	24262067	splice site	probably benign
R0490:Fxn	UTSW	19	24277179	critical splice donor site	probably null
R1666:Fxn	UTSW	19	24262013	missense	probably damaging	1.00
R1668:Fxn	UTSW	19	24262013	missense	probably damaging	1.00
R1817:Fxn	UTSW	19	24280401	splice site	probably null
R2187:Fxn	UTSW	19	24280489	missense	probably benign	0.34
R5421:Fxn	UTSW	19	24277285	splice site	probably null
R6195:Fxn	UTSW	19	24262043	missense	probably damaging	1.00
R6318:Fxn	UTSW	19	24280426	missense	probably damaging	0.99
R7418:Fxn	UTSW	19	24280496	missense	probably benign	0.00
Z1176:Fxn	UTSW	19	24262042	missense	probably damaging	1.00

Posted On

2013-06-21