Incidental Mutation 'IGL02708:Aifm2'
ID304468
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aifm2
Ensembl Gene ENSMUSG00000020085
Gene Nameapoptosis-inducing factor, mitochondrion-associated 2
Synonyms5430437E11Rik, D730001I10Rik, Amid, PRG3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL02708
Quality Score
Status
Chromosome10
Chromosomal Location61715263-61739260 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) T to C at 61738575 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000101095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020283] [ENSMUST00000067857] [ENSMUST00000080099] [ENSMUST00000099706] [ENSMUST00000105455]
Predicted Effect probably benign
Transcript: ENSMUST00000020283
SMART Domains Protein: ENSMUSP00000020283
Gene: ENSMUSG00000020086

DomainStartEndE-ValueType
H2A 3 120 5.3e-67 SMART
low complexity region 134 151 N/A INTRINSIC
low complexity region 157 167 N/A INTRINSIC
Pfam:Macro 216 330 1.8e-28 PFAM
low complexity region 339 345 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000067857
SMART Domains Protein: ENSMUSP00000070054
Gene: ENSMUSG00000020085

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 13 291 3.2e-20 PFAM
Pfam:K_oxygenase 89 193 1.4e-7 PFAM
Pfam:Pyr_redox 145 233 4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080099
SMART Domains Protein: ENSMUSP00000078998
Gene: ENSMUSG00000020085

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 12 302 5.4e-43 PFAM
Pfam:K_oxygenase 94 190 5.2e-7 PFAM
Pfam:Pyr_redox 144 230 7.2e-10 PFAM
low complexity region 328 342 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099706
SMART Domains Protein: ENSMUSP00000097297
Gene: ENSMUSG00000020085

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 13 291 3.2e-20 PFAM
Pfam:K_oxygenase 89 193 1.4e-7 PFAM
Pfam:Pyr_redox 145 233 4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105455
SMART Domains Protein: ENSMUSP00000101095
Gene: ENSMUSG00000020085

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 13 291 3.2e-20 PFAM
Pfam:K_oxygenase 89 193 1.4e-7 PFAM
Pfam:Pyr_redox 145 233 4e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140664
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 oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in colon cancer cells. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous null mice display reduced sensitivity to genotoxin induced cellular growth inhibition but have no change in spontaneous or induced tumor incidence. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,500,801 V1104D probably damaging Het
Adgrl2 A T 3: 148,826,525 V1024E probably damaging Het
Agbl2 A G 2: 90,801,342 H348R probably benign Het
Ankrd26 T C 6: 118,518,418 probably benign Het
Avpr1b A G 1: 131,600,651 D304G probably damaging Het
Duox1 A G 2: 122,326,017 D475G possibly damaging Het
E2f8 T C 7: 48,867,234 probably null Het
Fat2 T A 11: 55,282,385 I2501F probably damaging Het
Gm13119 T A 4: 144,363,413 L341H probably damaging Het
Gm4181 A G 14: 51,633,232 C91R probably benign Het
Gm5424 T A 10: 62,071,611 noncoding transcript Het
Gnai3 A G 3: 108,118,344 F140L probably benign Het
Htra1 A T 7: 130,962,035 D212V probably damaging Het
Irgm2 T C 11: 58,220,524 V347A probably benign Het
Itch A G 2: 155,174,044 T150A probably benign Het
Itgb3 A C 11: 104,637,829 I261L possibly damaging Het
Kalrn C T 16: 34,392,050 V31M probably damaging Het
Klra7 C T 6: 130,226,500 C181Y probably damaging Het
Klrb1 A G 6: 128,713,585 L58S probably benign Het
Kndc1 A G 7: 139,901,181 E61G probably damaging Het
Krt78 T A 15: 101,953,407 T135S possibly damaging Het
Mpdz A G 4: 81,284,571 probably null Het
Mphosph6 A G 8: 117,792,786 probably benign Het
Myo19 T C 11: 84,899,396 S393P possibly damaging Het
Olfr586 A G 7: 103,121,820 probably benign Het
Olfr968 T C 9: 39,771,918 N294S probably damaging Het
Pkdrej T C 15: 85,820,787 Y316C probably damaging Het
Pkp3 A T 7: 141,089,768 probably benign Het
Ppil2 A T 16: 17,106,008 V59D probably benign Het
Psmb8 A G 17: 34,201,243 K270E probably benign Het
Ptprq T C 10: 107,652,700 N959D probably damaging Het
Rab6b T G 9: 103,160,875 probably null Het
Rhobtb3 T C 13: 75,917,724 D180G probably damaging Het
Sccpdh G A 1: 179,680,509 C238Y probably benign Het
Srm C T 4: 148,593,346 S147L probably benign Het
Synj1 A T 16: 90,991,462 S173T probably damaging Het
Tas1r1 T C 4: 152,028,340 E752G possibly damaging Het
Tmem151a G T 19: 5,082,847 Y110* probably null Het
Ttn A G 2: 76,726,613 V30016A probably damaging Het
Txnrd2 A G 16: 18,468,840 E331G probably benign Het
Vldlr T C 19: 27,238,085 C161R possibly damaging Het
Vmn1r91 T A 7: 20,101,490 S111R probably damaging Het
Vmn2r66 T A 7: 85,006,588 I407F probably benign Het
Vps13d T C 4: 145,128,280 M2258V probably benign Het
Other mutations in Aifm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02297:Aifm2 APN 10 61735548 missense possibly damaging 0.62
IGL02561:Aifm2 APN 10 61726007 missense probably damaging 1.00
R0690:Aifm2 UTSW 10 61726452 missense probably benign 0.01
R2119:Aifm2 UTSW 10 61735604 missense possibly damaging 0.60
R2404:Aifm2 UTSW 10 61728195 missense probably benign 0.08
R4698:Aifm2 UTSW 10 61727756 missense probably benign 0.00
R4826:Aifm2 UTSW 10 61725989 missense probably benign
R5228:Aifm2 UTSW 10 61732417 missense probably damaging 0.99
R5668:Aifm2 UTSW 10 61725917 missense probably damaging 1.00
R7378:Aifm2 UTSW 10 61727717 missense possibly damaging 0.79
X0025:Aifm2 UTSW 10 61735485 missense probably damaging 1.00
Posted On2015-04-16