Incidental Mutation 'I2288:Fxn'
ID 7878
Institutional Source Beutler Lab
Gene Symbol Fxn
Ensembl Gene ENSMUSG00000059363
Gene Name frataxin
Synonyms Frda
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # I2288 (G3) of strain 633
Quality Score
Status Validated
Chromosome 19
Chromosomal Location 24238817-24257969 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 24239431 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081333] [ENSMUST00000123684]
AlphaFold O35943
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: 25,174,677 (GRCm39) I696N probably damaging Het
Adgra1 T C 7: 139,432,495 (GRCm39) I111T probably damaging Het
Adgrv1 A G 13: 81,585,643 (GRCm39) L4607P probably damaging Het
Alppl2 A T 1: 87,015,898 (GRCm39) M284K possibly damaging Het
Arfgef1 T C 1: 10,243,478 (GRCm39) K1024E probably damaging Het
Arid2 T C 15: 96,267,392 (GRCm39) V624A possibly damaging Het
Babam1 G A 8: 71,850,467 (GRCm39) R32Q probably damaging Het
Camk1g C T 1: 193,033,414 (GRCm39) probably benign Homo
Cfap44 C A 16: 44,269,501 (GRCm39) Y1168* probably null Het
Clasp1 A G 1: 118,492,959 (GRCm39) H1168R probably benign Het
Crkl A G 16: 17,301,612 (GRCm39) T289A probably damaging Het
Dlec1 A G 9: 118,972,669 (GRCm39) D1464G probably damaging Het
Dmxl2 A T 9: 54,309,077 (GRCm39) H1891Q probably damaging Het
Dnah10 G A 5: 124,807,164 (GRCm39) A150T probably benign Het
Dnah8 A G 17: 30,882,428 (GRCm39) T667A probably benign Het
Fpr-rs3 A T 17: 20,844,757 (GRCm39) L128Q probably damaging Het
Golgb1 A G 16: 36,718,904 (GRCm39) H270R probably benign Het
Gramd1b T C 9: 40,218,101 (GRCm39) I572V probably damaging Het
Iqch A T 9: 63,408,172 (GRCm39) I664K probably benign Het
Kcnn2 T A 18: 45,808,340 (GRCm39) probably benign Het
Lrp1b A T 2: 41,012,944 (GRCm39) I2001K probably damaging Het
Lrrc40 T A 3: 157,758,426 (GRCm39) I277K probably damaging Het
Myo1e A G 9: 70,249,379 (GRCm39) E493G possibly damaging Homo
Nrcam C A 12: 44,611,098 (GRCm39) H567Q probably benign Homo
Or52d3 T C 7: 104,229,593 (GRCm39) C247R probably damaging Het
Or5bw2 A T 7: 6,573,818 (GRCm39) Y276F probably damaging Homo
Or5w19 T A 2: 87,698,479 (GRCm39) I48N probably damaging Het
Parvg C A 15: 84,212,981 (GRCm39) probably benign Het
Ripk4 A G 16: 97,549,345 (GRCm39) V237A probably benign Het
Spam1 A G 6: 24,796,477 (GRCm39) I143V probably benign Het
Synj2 A G 17: 6,072,542 (GRCm39) probably benign Het
Taar4 A G 10: 23,836,818 (GRCm39) T143A probably benign Het
Ttc12 T A 9: 49,381,558 (GRCm39) M138L possibly damaging Het
Ttll9 A G 2: 152,814,259 (GRCm39) probably benign Het
Usp34 T A 11: 23,382,473 (GRCm39) probably benign Homo
Utrn A G 10: 12,297,384 (GRCm39) Y675H probably damaging Het
Other mutations in Fxn
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6195:Fxn UTSW 19 24,239,407 (GRCm39) missense probably damaging 1.00
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
Posted On 2012-11-13