Incidental Mutation 'R2187:Fxn'
ID 237906
Institutional Source Beutler Lab
Gene Symbol Fxn
Ensembl Gene ENSMUSG00000059363
Gene Name frataxin
Synonyms Frda
MMRRC Submission 040189-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2187 (G1)
Quality Score 117
Status Not validated
Chromosome 19
Chromosomal Location 24238817-24257969 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24257853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 26 (N26I)
Ref Sequence ENSEMBL: ENSMUSP00000117047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081333] [ENSMUST00000123684]
AlphaFold O35943
Predicted Effect probably benign
Transcript: ENSMUST00000081333
AA Change: N26I

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000080081
Gene: ENSMUSG00000059363
AA Change: N26I

DomainStartEndE-ValueType
Frataxin_Cyay 87 198 1.61e-52 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123684
AA Change: N26I

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117047
Gene: ENSMUSG00000059363
AA Change: N26I

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: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T A 17: 31,324,491 (GRCm39) S245R probably damaging Het
AI597479 T A 1: 43,139,983 (GRCm39) W70R probably damaging Het
Ankrd55 A G 13: 112,520,039 (GRCm39) S575G probably benign Het
Bfsp2 T A 9: 103,303,976 (GRCm39) K343* probably null Het
Cant1 A T 11: 118,299,667 (GRCm39) Y227* probably null Het
Cd2bp2 T C 7: 126,793,963 (GRCm39) N109D probably benign Het
Chmp6 A G 11: 119,807,562 (GRCm39) E135G possibly damaging Het
Dsp T G 13: 38,360,383 (GRCm39) S329R probably damaging Het
Epha5 A T 5: 84,234,223 (GRCm39) F767L probably damaging Het
Epha7 A T 4: 28,942,648 (GRCm39) T566S possibly damaging Het
Erap1 A T 13: 74,810,524 (GRCm39) I288F probably damaging Het
Erich6 A G 3: 58,537,266 (GRCm39) probably null Het
Fbxo10 A G 4: 45,058,531 (GRCm39) V402A probably benign Het
Fndc1 T A 17: 7,960,604 (GRCm39) I1604F probably damaging Het
Foxd4 T G 19: 24,877,219 (GRCm39) Q327P probably damaging Het
Hsf5 G T 11: 87,529,010 (GRCm39) G582C possibly damaging Het
Itga8 A G 2: 12,199,231 (GRCm39) V522A possibly damaging Het
Kplce A G 3: 92,775,922 (GRCm39) S254P probably damaging Het
Lyst C T 13: 13,883,926 (GRCm39) T2938I possibly damaging Het
Mib2 T C 4: 155,739,390 (GRCm39) E863G possibly damaging Het
Mrgpra9 A G 7: 46,884,797 (GRCm39) F290S probably damaging Het
Mst1 T C 9: 107,961,539 (GRCm39) Y599H possibly damaging Het
Mylk4 T C 13: 32,905,996 (GRCm39) I165V probably damaging Het
Nipsnap2 T C 5: 129,823,537 (GRCm39) probably null Het
Nol8 T C 13: 49,815,475 (GRCm39) Y528H probably benign Het
Nup93 T A 8: 95,027,478 (GRCm39) S295R probably damaging Het
Nutm2 A T 13: 50,621,453 (GRCm39) Q6L probably benign Het
Or2b6 A T 13: 21,823,555 (GRCm39) I46N probably damaging Het
Or5ak20 T G 2: 85,184,259 (GRCm39) S4R probably benign Het
Or5b12b T A 19: 12,861,619 (GRCm39) C125S probably damaging Het
Or6c33 A G 10: 129,853,557 (GRCm39) E109G probably damaging Het
Pip5k1a A T 3: 94,979,229 (GRCm39) L189Q probably damaging Het
Plekha4 C T 7: 45,198,698 (GRCm39) R574C probably damaging Het
Ppp2cb A G 8: 34,100,705 (GRCm39) E42G possibly damaging Het
Prkd3 T A 17: 79,282,983 (GRCm39) Q244L probably benign Het
Ptpn14 C T 1: 189,595,425 (GRCm39) R1023* probably null Het
Ptpra A G 2: 130,346,219 (GRCm39) T127A probably benign Het
Rad54l2 ACCTCCTCCTCCTCCTCCTCCTCCTC ACCTCCTCCTCCTCCTCCTCCTC 9: 106,631,191 (GRCm39) probably benign Het
Rasgrf1 T C 9: 89,876,888 (GRCm39) I751T possibly damaging Het
Rbm27 A G 18: 42,459,022 (GRCm39) K697R probably damaging Het
Rhoa C T 9: 108,212,352 (GRCm39) T127M probably benign Het
Rnpepl1 A G 1: 92,844,617 (GRCm39) S370G probably null Het
Sdk1 C T 5: 142,100,329 (GRCm39) T1453I probably damaging Het
Sel1l2 A G 2: 140,072,793 (GRCm39) L614S probably damaging Het
Slc6a20b T A 9: 123,427,653 (GRCm39) I419F probably damaging Het
Slc8a1 C T 17: 81,955,982 (GRCm39) S352N possibly damaging Het
Spta1 A G 1: 174,020,532 (GRCm39) D547G probably damaging Het
Tc2n G A 12: 101,672,803 (GRCm39) T46I probably damaging Het
Terb1 T A 8: 105,199,516 (GRCm39) Y476F probably benign Het
Trim12a T A 7: 103,953,399 (GRCm39) E237D probably damaging Het
Usp47 T C 7: 111,666,398 (GRCm39) L309P 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
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
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'- ACGGAAACTCGTCTTTTCCC -3'
(R):5'- GTTAAAGGTCTGCACAGGGCTG -3'

Sequencing Primer
(F):5'- GCAACCAGAGCGACTCG -3'
(R):5'- TCTGCACAGGGCTGTAGTGC -3'
Posted On 2014-10-02