Mutagenetix > Incidental Mutation

Incidental Mutation 'R6195:Fxn'

502894

Institutional Source

Beutler Lab

Gene Symbol

Fxn

Ensembl Gene

ENSMUSG00000059363

Gene Name

frataxin

Synonyms

Frda

MMRRC Submission

044335-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6195 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24238817-24257969 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24239407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 162 (R162C)

Ref Sequence

ENSEMBL: ENSMUSP00000080081 (fasta)

Gene Model

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

AlphaFold

O35943

Predicted Effect

probably damaging
Transcript: ENSMUST00000081333
AA Change: R162C

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

SMART Domains

Protein: ENSMUSP00000080081
Gene: ENSMUSG00000059363
AA Change: R162C

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

Meta Mutation Damage Score

0.9475

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (76/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,857,142 (GRCm39)		probably null	Het
Aadacl2fm2	G	A	3: 59,659,623 (GRCm39)	V359I	probably damaging	Het
Abtb1	T	C	6: 88,817,718 (GRCm39)	E50G	probably benign	Het
Agbl2	T	A	2: 90,643,657 (GRCm39)	D792E	probably benign	Het
Aoc1	C	A	6: 48,885,611 (GRCm39)	N705K	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Arhgef7	C	T	8: 11,872,017 (GRCm39)	T701I	probably damaging	Het
Atg10	G	T	13: 91,356,555 (GRCm39)		probably null	Het
Atp5f1c	T	C	2: 10,068,926 (GRCm39)	I116M	possibly damaging	Het
Baz2b	T	A	2: 59,737,855 (GRCm39)	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,616,740 (GRCm39)	*174Q	probably null	Het
Cacna1a	A	G	8: 85,315,382 (GRCm39)	Y1539C	probably damaging	Het
Creb3	A	G	4: 43,566,346 (GRCm39)	D260G	probably benign	Het
Cyp1b1	G	T	17: 80,021,695 (GRCm39)	L16M	probably damaging	Het
Dhx29	T	A	13: 113,101,071 (GRCm39)	S1205T	probably benign	Het
Dlec1	A	G	9: 118,966,321 (GRCm39)	K1097E	probably benign	Het
Dnah7b	G	A	1: 46,243,429 (GRCm39)	D1578N	probably damaging	Het
Dok3	T	C	13: 55,671,389 (GRCm39)	N394S	probably benign	Het
Dpcd	A	G	19: 45,565,458 (GRCm39)	D144G	probably damaging	Het
Efhb	A	G	17: 53,769,580 (GRCm39)	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 79,178,662 (GRCm39)	Y137*	probably null	Het
Eif4e1b	A	G	13: 54,932,018 (GRCm39)	N34S	probably null	Het
F2rl3	A	G	8: 73,489,513 (GRCm39)	T247A	probably benign	Het
Fan1	A	T	7: 64,004,119 (GRCm39)	H782Q	probably damaging	Het
Fer1l5	T	C	1: 36,414,367 (GRCm39)		probably null	Het
Fer1l6	T	C	15: 58,509,806 (GRCm39)	S1423P	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fgfbp1	T	C	5: 44,136,704 (GRCm39)	D196G	possibly damaging	Het
Fxr2	C	T	11: 69,543,099 (GRCm39)	T632M	probably benign	Het
Gab1	A	T	8: 81,606,161 (GRCm39)	Y24*	probably null	Het
Gcc2	T	C	10: 58,106,806 (GRCm39)	S681P	probably damaging	Het
Git2	T	C	5: 114,905,175 (GRCm39)	N94S	probably benign	Het
Gm5799	T	G	14: 43,782,088 (GRCm39)	L87V	probably damaging	Het
Golga7b	A	T	19: 42,251,886 (GRCm39)	D44V	probably benign	Het
Hace1	T	A	10: 45,546,539 (GRCm39)	I391N	possibly damaging	Het
Hmcn2	T	C	2: 31,274,127 (GRCm39)	S1416P	probably damaging	Het
Hoxa11	G	A	6: 52,222,681 (GRCm39)	R7C	probably damaging	Het
Igkv14-126	A	T	6: 67,873,475 (GRCm39)	T68S	possibly damaging	Het
Insyn2a	T	C	7: 134,520,377 (GRCm39)	D51G	probably damaging	Het
Itpr3	T	C	17: 27,305,934 (GRCm39)	I164T	probably damaging	Het
Kif22	A	G	7: 126,628,131 (GRCm39)	S540P	probably damaging	Het
Ldlr	T	A	9: 21,643,077 (GRCm39)	C34*	probably null	Het
Lrrtm4	T	C	6: 79,998,939 (GRCm39)	L117P	probably damaging	Het
Mad2l1	G	T	6: 66,514,612 (GRCm39)	G94C	possibly damaging	Het
Malrd1	C	A	2: 15,700,137 (GRCm39)	H661Q	probably damaging	Het
Mical3	T	A	6: 120,993,796 (GRCm39)		probably benign	Het
Mipep	T	A	14: 61,109,554 (GRCm39)	W644R	probably damaging	Het
Mycl	A	G	4: 122,893,713 (GRCm39)	D171G	probably damaging	Het
Myof	A	G	19: 37,901,805 (GRCm39)	F997L	possibly damaging	Het
Nagpa	C	T	16: 5,021,613 (GRCm39)	R46H	probably damaging	Het
Nf1	A	G	11: 79,456,801 (GRCm39)	Y629C	probably damaging	Het
Obscn	T	A	11: 58,888,033 (GRCm39)	E2164V	probably damaging	Het
Or52h1	A	T	7: 103,828,961 (GRCm39)	V218D	possibly damaging	Het
Or5ac23	A	G	16: 59,149,785 (GRCm39)	V29A	possibly damaging	Het
Or5w19	T	C	2: 87,698,904 (GRCm39)	S190P	possibly damaging	Het
Or8k25	T	C	2: 86,243,551 (GRCm39)	I282V	probably damaging	Het
Pcdh20	T	C	14: 88,705,488 (GRCm39)	E604G	probably benign	Het
Pcdhb7	G	A	18: 37,475,709 (GRCm39)	V282I	probably benign	Het
Pcnx4	A	G	12: 72,603,648 (GRCm39)	D523G	possibly damaging	Het
Pigx	G	A	16: 31,903,404 (GRCm39)	T219I	probably damaging	Het
Plch1	G	T	3: 63,648,210 (GRCm39)	P399Q	probably damaging	Het
Pvrig-ps	T	A	5: 138,340,537 (GRCm39)	F74I	possibly damaging	Het
Rsrp1	T	A	4: 134,654,113 (GRCm39)	I255K	probably damaging	Het
Scn1a	T	A	2: 66,107,962 (GRCm39)	Y1588F	possibly damaging	Het
Serpina9	T	A	12: 103,967,666 (GRCm39)	H243L	probably damaging	Het
Tapbp	T	C	17: 34,138,956 (GRCm39)	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,101,391 (GRCm39)	K40*	probably null	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbc1d23	T	C	16: 57,051,713 (GRCm39)	E6G	possibly damaging	Het
Tdrd6	A	G	17: 43,940,643 (GRCm39)	V135A	probably damaging	Het
Tmem87a	A	T	2: 120,222,656 (GRCm39)		probably null	Het
Tnrc18	T	A	5: 142,750,928 (GRCm39)	K1217N	unknown	Het
Trim33	G	A	3: 103,244,848 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,567,997 (GRCm39)	Y27632F	probably benign	Het
Tubgcp6	A	T	15: 89,006,994 (GRCm39)	D9E	probably benign	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Zfp655	T	A	5: 145,180,572 (GRCm39)	F143L	possibly damaging	Het

Other mutations in Fxn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00569:Fxn	APN	19	24,244,714 (GRCm39)	missense	probably damaging	1.00
IGL01066:Fxn	APN	19	24,244,662 (GRCm39)	splice site	probably benign
I2288:Fxn	UTSW	19	24,239,431 (GRCm39)	splice site	probably benign
R0490:Fxn	UTSW	19	24,254,543 (GRCm39)	critical splice donor site	probably null
R1666:Fxn	UTSW	19	24,239,377 (GRCm39)	missense	probably damaging	1.00
R1668:Fxn	UTSW	19	24,239,377 (GRCm39)	missense	probably damaging	1.00
R1817:Fxn	UTSW	19	24,257,765 (GRCm39)	splice site	probably null
R2187:Fxn	UTSW	19	24,257,853 (GRCm39)	missense	probably benign	0.34
R5421:Fxn	UTSW	19	24,254,649 (GRCm39)	splice site	probably null
R6318:Fxn	UTSW	19	24,257,790 (GRCm39)	missense	probably damaging	0.99
R7418:Fxn	UTSW	19	24,257,860 (GRCm39)	missense	probably benign	0.00
R9170:Fxn	UTSW	19	24,244,687 (GRCm39)	missense	probably damaging	0.98
R9218:Fxn	UTSW	19	24,239,388 (GRCm39)	missense	probably damaging	0.97
R9428:Fxn	UTSW	19	24,249,787 (GRCm39)	missense	probably damaging	1.00
Z1176:Fxn	UTSW	19	24,239,406 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATTCAGCTACAGGAGGAGG -3'
(R):5'- GCCGTGGGACTTTTAAGATTCAG -3'

Sequencing Primer
(F):5'- GGGTCTTCACCTGACAGTG -3'
(R):5'- TAGCCTTGGCTACACAAGTG -3'

Posted On

2018-02-27