Incidental Mutation 'R5421:Fxn'
ID 426604
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 # R5421 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 24238817-24257969 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 24254649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081333] [ENSMUST00000081333] [ENSMUST00000123684] [ENSMUST00000123684]
AlphaFold O35943
Predicted Effect probably null
Transcript: ENSMUST00000081333
SMART Domains Protein: ENSMUSP00000080081
Gene: ENSMUSG00000059363

DomainStartEndE-ValueType
Frataxin_Cyay 87 198 1.61e-52 SMART
Predicted Effect probably null
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 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: 97.1%
  • 20x: 94.8%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 A T 15: 74,421,876 (GRCm39) Q882L probably damaging Het
Afdn T C 17: 14,052,668 (GRCm39) V525A probably benign Het
AI987944 T C 7: 41,024,200 (GRCm39) T263A probably benign Het
Aldh1l2 T C 10: 83,363,271 (GRCm39) S31G probably damaging Het
Asxl1 T C 2: 153,241,504 (GRCm39) S685P probably benign Het
Blnk C A 19: 40,956,967 (GRCm39) V47F probably damaging Het
Bmp4 T A 14: 46,623,355 (GRCm39) M64L probably damaging Het
Bmpr2 T A 1: 59,909,577 (GRCm39) V1017E possibly damaging Het
C1ra C T 6: 124,499,749 (GRCm39) P645L probably benign Het
Cadm2 A T 16: 66,568,513 (GRCm39) C248* probably null Het
Cdk6 T C 5: 3,523,120 (GRCm39) V180A probably damaging Het
Colec12 A T 18: 9,858,580 (GRCm39) R454S probably damaging Het
Dennd3 T C 15: 73,438,964 (GRCm39) S1111P probably benign Het
Dmxl1 T C 18: 49,996,186 (GRCm39) probably null Het
Dnah2 G A 11: 69,326,462 (GRCm39) T3613I probably damaging Het
Elp6 A G 9: 110,143,132 (GRCm39) Q115R probably benign Het
Enpp1 A G 10: 24,545,655 (GRCm39) Y262H probably damaging Het
Far2 A G 6: 148,047,690 (GRCm39) probably null Het
Flnb C T 14: 7,926,494 (GRCm38) T1846I probably damaging Het
Folr2 C T 7: 101,489,851 (GRCm39) R139H probably benign Het
Galnt13 A C 2: 54,747,908 (GRCm39) N263T probably damaging Het
Gje1 G A 10: 14,592,428 (GRCm39) S118L probably damaging Het
Htr5a G T 5: 28,055,985 (GRCm39) W325C possibly damaging Het
Itga4 T A 2: 79,146,385 (GRCm39) Y772* probably null Het
Kif12 T C 4: 63,089,665 (GRCm39) S59G probably benign Het
Kifc3 C T 8: 95,836,473 (GRCm39) R96Q probably damaging Het
Klrd1 T C 6: 129,575,406 (GRCm39) Y191H probably damaging Het
Ndst3 A T 3: 123,428,008 (GRCm39) probably null Het
Nek1 A C 8: 61,459,711 (GRCm39) R6S possibly damaging Het
Or4b13 G A 2: 90,083,089 (GRCm39) T81I probably benign Het
Or5p68 G C 7: 107,946,182 (GRCm39) A2G probably benign Het
Or6k8-ps1 C T 1: 173,979,861 (GRCm39) R260* probably null Het
Palld C T 8: 61,969,584 (GRCm39) E1005K probably damaging Het
Ppp2r1a T A 17: 21,176,968 (GRCm39) Y169N probably benign Het
Rad50 T C 11: 53,565,773 (GRCm39) D960G probably benign Het
Rad51ap2 A T 12: 11,509,368 (GRCm39) K915* probably null Het
Rasal2 T C 1: 157,126,711 (GRCm39) K109R probably benign Het
Rc3h1 G A 1: 160,779,400 (GRCm39) probably null Het
Rnf6 C T 5: 146,147,339 (GRCm39) V560I probably benign Het
Samd8 A G 14: 21,842,563 (GRCm39) D295G probably damaging Het
Scart1 T C 7: 139,803,813 (GRCm39) L337P probably damaging Het
Serpinb2 T C 1: 107,451,581 (GRCm39) Y245H probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc28a3 A T 13: 58,722,079 (GRCm39) F268L possibly damaging Het
Slc7a14 T C 3: 31,278,346 (GRCm39) T420A probably damaging Het
Speer4f2 A T 5: 17,579,356 (GRCm39) T52S possibly damaging Het
Spta1 A G 1: 174,043,095 (GRCm39) N1414D probably damaging Het
Sptbn5 A G 2: 119,911,261 (GRCm39) noncoding transcript Het
Syt9 T C 7: 107,024,563 (GRCm39) V152A probably benign Het
Thoc2l A T 5: 104,666,261 (GRCm39) N261I probably benign Het
Tln1 G A 4: 43,533,609 (GRCm39) A2315V possibly damaging Het
Tox C A 4: 6,842,409 (GRCm39) M40I possibly damaging Het
Ucp1 G A 8: 84,017,320 (GRCm39) A37T probably benign Het
Vapa A G 17: 65,902,031 (GRCm39) V33A possibly damaging Het
Vmn2r110 A G 17: 20,803,882 (GRCm39) L231S probably damaging Het
Vmn2r15 C T 5: 109,434,401 (GRCm39) A768T probably damaging Het
Vmn2r86 T C 10: 130,282,805 (GRCm39) T604A probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Wnk1 A G 6: 119,929,779 (GRCm39) V1246A probably damaging Het
Wwc1 C T 11: 35,801,123 (GRCm39) E105K possibly damaging Het
Wwc1 T G 11: 35,766,890 (GRCm39) D455A possibly damaging Het
Zfp426 G A 9: 20,382,015 (GRCm39) A309V probably damaging Het
Zfp626 T A 7: 27,517,335 (GRCm39) N105K 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
R2187:Fxn UTSW 19 24,257,853 (GRCm39) missense probably benign 0.34
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'- TCACTCAAGGTTGTTCCCAG -3'
(R):5'- CCGTCCTATCAGATGGTCCAAG -3'

Sequencing Primer
(F):5'- TCCCAGGGAGAAATGGTTTCC -3'
(R):5'- TCAGATGGTCCAAGCTTAGC -3'
Posted On 2016-09-01