Incidental Mutation 'R1666:Fxn'
ID 187245
Institutional Source Beutler Lab
Gene Symbol Fxn
Ensembl Gene ENSMUSG00000059363
Gene Name frataxin
Synonyms Frda
MMRRC Submission 039702-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1666 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 24238817-24257969 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24239377 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 172 (Y172H)
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: Y172H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080081
Gene: ENSMUSG00000059363
AA Change: Y172H

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: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvrl1 G A 15: 101,035,458 (GRCm39) R328H probably damaging Het
Afp T C 5: 90,652,927 (GRCm39) S466P probably damaging Het
Arhgap45 A G 10: 79,864,584 (GRCm39) S879G possibly damaging Het
Asic1 A G 15: 99,597,006 (GRCm39) D556G probably damaging Het
Atp2a3 T A 11: 72,869,633 (GRCm39) probably null Het
Brinp2 C A 1: 158,074,128 (GRCm39) E664D probably damaging Het
Cap2 C A 13: 46,768,799 (GRCm39) H147N probably damaging Het
Cd209f G A 8: 4,154,862 (GRCm39) Q79* probably null Het
Chrna7 T C 7: 62,861,890 (GRCm39) Y54C possibly damaging Het
Clec1a T C 6: 129,413,967 (GRCm39) D40G probably benign Het
Col11a1 A G 3: 113,855,184 (GRCm39) E148G unknown Het
Comp A T 8: 70,831,607 (GRCm39) probably null Het
Cpz A G 5: 35,665,460 (GRCm39) probably null Het
Cyfip1 T A 7: 55,521,646 (GRCm39) N13K probably damaging Het
Cyp2c50 A T 19: 40,079,499 (GRCm39) M198L probably benign Het
Deup1 A T 9: 15,486,487 (GRCm39) Y398N possibly damaging Het
Elapor1 A G 3: 108,377,313 (GRCm39) S434P probably benign Het
Epb41l4a A G 18: 34,054,962 (GRCm39) L42P probably damaging Het
Exo1 T C 1: 175,736,052 (GRCm39) I812T possibly damaging Het
Fbxl17 A T 17: 63,692,060 (GRCm39) probably null Het
Gabra6 A G 11: 42,208,461 (GRCm39) S124P probably damaging Het
Gje1 C A 10: 14,592,551 (GRCm39) W77L possibly damaging Het
Glra1 A G 11: 55,465,225 (GRCm39) S23P probably damaging Het
Gm6811 T C 17: 21,314,529 (GRCm39) noncoding transcript Het
Greb1l T A 18: 10,501,080 (GRCm39) probably null Het
Greb1l T C 18: 10,529,708 (GRCm39) probably null Het
Grm6 A T 11: 50,750,711 (GRCm39) I625F probably damaging Het
Guca1a A G 17: 47,711,167 (GRCm39) F60L probably damaging Het
Hectd1 T A 12: 51,800,607 (GRCm39) E2070D possibly damaging Het
Itga5 G A 15: 103,256,329 (GRCm39) T910I probably benign Het
Kctd10 A G 5: 114,507,051 (GRCm39) V142A probably benign Het
Kif1c C T 11: 70,619,223 (GRCm39) L953F probably damaging Het
Lmtk3 A T 7: 45,443,588 (GRCm39) D757V probably benign Het
Lpcat1 T C 13: 73,658,242 (GRCm39) probably null Het
Lrrc30 A T 17: 67,939,200 (GRCm39) C127S probably benign Het
Mc4r A G 18: 66,992,480 (GRCm39) L211P probably damaging Het
Mgat5b T A 11: 116,874,474 (GRCm39) N635K probably benign Het
Mms19 A T 19: 41,940,995 (GRCm39) M443K possibly damaging Het
Mroh5 T C 15: 73,659,754 (GRCm39) N359S probably benign Het
Nlrc4 G A 17: 74,752,901 (GRCm39) T494M probably damaging Het
Ntf3 T C 6: 126,079,401 (GRCm39) D35G possibly damaging Het
Or5g25 A T 2: 85,478,157 (GRCm39) C169* probably null Het
Osbpl5 T C 7: 143,262,776 (GRCm39) H192R probably damaging Het
Parp4 A T 14: 56,861,620 (GRCm39) K984N possibly damaging Het
Pdgfra G A 5: 75,349,681 (GRCm39) G892D possibly damaging Het
Pik3c2g A T 6: 139,612,634 (GRCm39) probably benign Het
Ppcdc T A 9: 57,321,998 (GRCm39) M181L possibly damaging Het
Pramel7 G A 2: 87,322,747 (GRCm39) P6S probably damaging Het
Prkcz G T 4: 155,374,208 (GRCm39) F69L probably damaging Het
Prkd1 G A 12: 50,441,709 (GRCm39) H277Y probably damaging Het
Ptgs2 A G 1: 149,977,021 (GRCm39) Y44C probably damaging Het
Rbck1 T A 2: 152,158,819 (GRCm39) S488C probably damaging Het
Rbl1 T C 2: 157,001,654 (GRCm39) Y878C probably damaging Het
Rbm6 G A 9: 107,669,055 (GRCm39) T619I probably benign Het
Rp1 A G 1: 4,420,086 (GRCm39) I342T probably damaging Het
Rpn2 C T 2: 157,136,075 (GRCm39) T161M possibly damaging Het
Rufy4 G A 1: 74,186,837 (GRCm39) V542I probably benign Het
Sema5b C T 16: 35,478,852 (GRCm39) P559S probably benign Het
Serpinb3d A G 1: 107,008,481 (GRCm39) V128A probably benign Het
Slc35f3 T A 8: 127,115,960 (GRCm39) S296T probably damaging Het
Slco1a8 T A 6: 141,927,775 (GRCm39) probably null Het
Smarca2 A G 19: 26,624,434 (GRCm39) I365V possibly damaging Het
Spdya T A 17: 71,885,235 (GRCm39) C230S probably damaging Het
Sv2b G A 7: 74,856,089 (GRCm39) A67V probably benign Het
Tapbpl A G 6: 125,207,164 (GRCm39) V175A probably benign Het
Tmt1a3 A G 15: 100,233,099 (GRCm39) I97V probably benign Het
Ttn T C 2: 76,642,095 (GRCm39) T13373A probably damaging Het
Tubb5 A T 17: 36,147,530 (GRCm39) N52K probably benign Het
Tyr T A 7: 87,142,149 (GRCm39) Y137F probably damaging Het
Unc45b T A 11: 82,808,565 (GRCm39) I217N probably benign Het
Vmn1r202 A T 13: 22,685,540 (GRCm39) D292E possibly damaging Het
Vmn1r22 A G 6: 57,877,704 (GRCm39) M91T probably benign Het
Washc2 T A 6: 116,200,215 (GRCm39) probably null Het
Zfp566 A T 7: 29,777,901 (GRCm39) H93Q probably benign Het
Zfp740 A G 15: 102,116,753 (GRCm39) D56G probably damaging Het
Zfp804b A C 5: 6,821,323 (GRCm39) L580R possibly damaging Het
Zmiz2 T G 11: 6,346,836 (GRCm39) S148R probably benign Het
Zmym6 T A 4: 127,016,652 (GRCm39) I719N probably damaging Het
Zyx T A 6: 42,332,966 (GRCm39) V372E possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- ACGGTGTGACTATCTTCAGGAGCAG -3'
(R):5'- AGGGTCATGAGCTAGATCGTGAGC -3'

Sequencing Primer
(F):5'- GACTATCTTCAGGAGCAGGTATG -3'
(R):5'- agaggcagagacaggtgg -3'
Posted On 2014-05-09