Incidental Mutation 'I2288:Fxn'
ID7878
Institutional Source Beutler Lab
Gene Symbol Fxn
Ensembl Gene ENSMUSG00000059363
Gene Namefrataxin
SynonymsFrda
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #I2288 (G3) of strain 633
Quality Score
Status Validated
Chromosome19
Chromosomal Location24261453-24280605 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 24262067 bp
ZygosityHomozygous
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

DomainStartEndE-ValueType
Frataxin_Cyay 87 198 1.61e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123684
SMART Domains Protein: ENSMUSP00000117047
Gene: ENSMUSG00000059363

DomainStartEndE-ValueType
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
  • 1x: 89.9%
  • 3x: 84.8%
Validation Efficiency 71% (138/195)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 A T 8: 24,684,661 I696N probably damaging Het
Adgra1 T C 7: 139,852,579 I111T probably damaging Het
Adgrv1 A G 13: 81,437,524 L4607P probably damaging Het
Alppl2 A T 1: 87,088,176 M284K possibly damaging Het
Arfgef1 T C 1: 10,173,253 K1024E probably damaging Het
Arid2 T C 15: 96,369,511 V624A possibly damaging Het
Babam1 G A 8: 71,397,823 R32Q probably damaging Het
Camk1g C T 1: 193,351,106 probably benign Homo
Cfap44 C A 16: 44,449,138 Y1168* probably null Het
Clasp1 A G 1: 118,565,229 H1168R probably benign Het
Crkl A G 16: 17,483,748 T289A probably damaging Het
Dlec1 A G 9: 119,143,601 D1464G probably damaging Het
Dmxl2 A T 9: 54,401,793 H1891Q probably damaging Het
Dnah10 G A 5: 124,730,100 A150T probably benign Het
Dnah8 A G 17: 30,663,454 T667A probably benign Het
Fpr-rs3 A T 17: 20,624,495 L128Q probably damaging Het
Golgb1 A G 16: 36,898,542 H270R probably benign Het
Gramd1b T C 9: 40,306,805 I572V probably damaging Het
Iqch A T 9: 63,500,890 I664K probably benign Het
Kcnn2 T A 18: 45,675,273 probably benign Het
Lrp1b A T 2: 41,122,932 I2001K probably damaging Het
Lrrc40 T A 3: 158,052,789 I277K probably damaging Het
Myo1e A G 9: 70,342,097 E493G possibly damaging Homo
Nrcam C A 12: 44,564,315 H567Q probably benign Homo
Olfr1152 T A 2: 87,868,135 I48N probably damaging Het
Olfr1350 A T 7: 6,570,819 Y276F probably damaging Homo
Olfr653 T C 7: 104,580,386 C247R probably damaging Het
Parvg C A 15: 84,328,780 probably benign Het
Ripk4 A G 16: 97,748,145 V237A probably benign Het
Spam1 A G 6: 24,796,478 I143V probably benign Het
Synj2 A G 17: 6,022,267 probably benign Het
Taar4 A G 10: 23,960,920 T143A probably benign Het
Ttc12 T A 9: 49,470,258 M138L possibly damaging Het
Ttll9 A G 2: 152,972,339 probably benign Het
Usp34 T A 11: 23,432,473 probably benign Homo
Utrn A G 10: 12,421,640 Y675H probably damaging Het
Other mutations in Fxn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Fxn APN 19 24267350 missense probably damaging 1.00
IGL01066:Fxn APN 19 24267298 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 On2012-11-13