Incidental Mutation 'IGL01066:Fxn'
ID 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 19
Chromosomal Location 24261453-24280605 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 24267298 bp (GRCm38)
Zygosity Heterozygous
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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
R9170:Fxn UTSW 19 24267323 missense probably damaging 0.98
R9218:Fxn UTSW 19 24262024 missense probably damaging 0.97
R9428:Fxn UTSW 19 24272423 missense probably damaging 1.00
Z1176:Fxn UTSW 19 24262042 missense probably damaging 1.00
Posted On 2013-06-21