Incidental Mutation 'R0668:Aifm1'
ID 62115
Institutional Source Beutler Lab
Gene Symbol Aifm1
Ensembl Gene ENSMUSG00000036932
Gene Name apoptosis-inducing factor, mitochondrion-associated 1
Synonyms apoptosis-inducing factor, AIFsh2, AIF, Pdcd8
MMRRC Submission 038853-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.677) question?
Stock # R0668 (G1)
Quality Score 171
Status Not validated
Chromosome X
Chromosomal Location 47563821-47602440 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47583668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 210 (Q210R)
Ref Sequence ENSEMBL: ENSMUSP00000110595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037349] [ENSMUST00000114945]
AlphaFold Q9Z0X1
Predicted Effect probably benign
Transcript: ENSMUST00000037349
AA Change: Q214R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041104
Gene: ENSMUSG00000036932
AA Change: Q214R

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 132 461 1e-42 PFAM
Pfam:Pyr_redox 301 385 1.5e-12 PFAM
AIF_C 464 594 1.81e-87 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114945
AA Change: Q210R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110595
Gene: ENSMUSG00000036932
AA Change: Q210R

DomainStartEndE-ValueType
Pfam:AIF-MLS 1 117 2.1e-19 PFAM
Pfam:Pyr_redox_2 129 439 3.1e-24 PFAM
Pfam:Pyr_redox 297 381 2.7e-10 PFAM
AIF_C 460 590 1.81e-87 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143466
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 91.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and mental retardation. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]
PHENOTYPE: Hemizygous males and homozygous females exhibit variable levels of hair loss and late-onset, progressive, neural degeneration with ataxia, tremors, and loss of cerebellar and retinal cells. The degree of hair loss and ataxia in heterozygous females correlates with the extent of X-inactivation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,302,773 (GRCm39) Q2149K probably damaging Het
Arhgef1 A G 7: 24,607,345 (GRCm39) N31D possibly damaging Het
Asic5 T A 3: 81,928,308 (GRCm39) Y424N probably damaging Het
Bltp3a A T 17: 28,114,913 (GRCm39) I1408F probably benign Het
Cfb G T 17: 35,076,079 (GRCm39) Q1176K probably benign Het
Chdh A G 14: 29,757,837 (GRCm39) H447R probably damaging Het
Cpd A C 11: 76,675,224 (GRCm39) V1299G probably damaging Het
Dnase1l3 A G 14: 7,968,086 (GRCm38) probably null Het
Dnhd1 A G 7: 105,344,958 (GRCm39) T2101A probably benign Het
Efcab3 A T 11: 104,611,318 (GRCm39) I387F probably benign Het
Fchsd2 A G 7: 100,846,127 (GRCm39) K188E possibly damaging Het
Gm10549 A G 18: 33,603,903 (GRCm39) T129A unknown Het
Jph1 T A 1: 17,161,895 (GRCm39) T256S probably damaging Het
Kcnma1 A G 14: 23,417,563 (GRCm39) Y768H probably damaging Het
Lcmt1 G A 7: 123,002,094 (GRCm39) D120N probably damaging Het
Ly6g6d G A 17: 35,290,715 (GRCm39) H72Y probably damaging Het
Myom3 A G 4: 135,492,237 (GRCm39) D127G possibly damaging Het
Or10c1 T A 17: 37,522,535 (GRCm39) I70F probably damaging Het
Pira13 G A 7: 3,825,699 (GRCm39) T390I probably damaging Het
Sart1 T C 19: 5,434,284 (GRCm39) Y249C probably damaging Het
Scin A G 12: 40,130,948 (GRCm39) Y322H probably damaging Het
Slc44a3 T C 3: 121,303,852 (GRCm39) T295A probably damaging Het
Slc4a5 T A 6: 83,248,054 (GRCm39) L535Q probably damaging Het
Them5 A T 3: 94,251,720 (GRCm39) K110N probably benign Het
Vmn1r32 T A 6: 66,530,644 (GRCm39) Q44L possibly damaging Het
Vmn2r93 T A 17: 18,518,667 (GRCm39) M42K probably benign Het
Zfp143 A T 7: 109,660,481 (GRCm39) probably benign Het
Other mutations in Aifm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Aifm1 APN X 47,570,976 (GRCm39) missense probably benign 0.01
IGL01743:Aifm1 APN X 47,569,153 (GRCm39) splice site probably benign
R5093:Aifm1 UTSW X 47,571,637 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCGGGTATGGGTTTTCCCTAGACAG -3'
(R):5'- TCAGTAAGCCAGTCACTACGGAGC -3'

Sequencing Primer
(F):5'- GGGTTTTCCCTAGACAGACACAC -3'
(R):5'- GGAGCTCTAGTGGCTAGAGACTTA -3'
Posted On 2013-07-30