Incidental Mutation 'IGL00594:Aifm1'
ID3130
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aifm1
Ensembl Gene ENSMUSG00000036932
Gene Nameapoptosis-inducing factor, mitochondrion-associated 1
SynonymsAIFsh2, apoptosis-inducing factor, Pdcd8, AIF
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.677) question?
Stock #IGL00594
Quality Score
Status
ChromosomeX
Chromosomal Location48474944-48513563 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 48482099 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 386 (T386A)
Ref Sequence ENSEMBL: ENSMUSP00000110595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037349] [ENSMUST00000114945]
Predicted Effect probably benign
Transcript: ENSMUST00000037349
AA Change: T390A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041104
Gene: ENSMUSG00000036932
AA Change: T390A

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: T386A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000110595
Gene: ENSMUSG00000036932
AA Change: T386A

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: ENSMUST00000124623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143466
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156795
Coding Region Coverage
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130010J15Rik A G 1: 193,174,801 T154A probably benign Het
Acox1 A G 11: 116,174,505 probably benign Het
Adgrg2 G A X: 160,485,777 V677I probably benign Het
Aspm T C 1: 139,487,422 probably benign Het
Fgfr2 A G 7: 130,228,723 V175A probably damaging Het
Gm14781 C T X: 91,635,485 Q348* probably null Het
Gm382 T C X: 127,063,152 Y987H probably benign Het
Golga3 A T 5: 110,204,975 M911L probably benign Het
Hmgxb3 A G 18: 61,157,739 V354A probably benign Het
Ifne T C 4: 88,879,804 N126D probably benign Het
Igkv3-7 T C 6: 70,607,823 V49A possibly damaging Het
Kbtbd8 A T 6: 95,126,513 Y381F probably damaging Het
Klc1 C T 12: 111,776,884 T215M probably damaging Het
Lrp2 A T 2: 69,486,280 V2119E probably benign Het
Lrrc7 A G 3: 158,187,010 V322A probably benign Het
Ms4a14 A G 19: 11,301,619 S1192P possibly damaging Het
Ndufaf6 T C 4: 11,062,127 Y168C probably damaging Het
Plcg2 C T 8: 117,556,071 T97I possibly damaging Het
Rasgrp4 T C 7: 29,148,541 probably benign Het
Rgs22 T C 15: 36,083,631 H515R probably benign Het
Rpn1 G T 6: 88,095,629 R318L probably damaging Het
Shroom2 A T X: 152,613,516 F1359Y probably damaging Het
Tarsl2 T A 7: 65,676,132 probably null Het
Tbc1d12 A G 19: 38,896,043 E346G possibly damaging Het
Tbccd1 A G 16: 22,822,544 F361S possibly damaging Het
Tenm1 G T X: 42,715,036 P837T probably benign Het
Tmem144 A G 3: 79,839,167 V27A probably benign Het
Zfp616 T A 11: 74,082,963 N19K possibly damaging Het
Zkscan7 T C 9: 122,895,594 Y543H possibly damaging Het
Other mutations in Aifm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Aifm1 APN X 48480276 splice site probably benign
R0668:Aifm1 UTSW X 48494791 missense probably benign
R5093:Aifm1 UTSW X 48482760 missense probably benign
Posted On2012-04-20