Incidental Mutation 'IGL02297:Aifm2'
ID290209
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: 0.195) question?
Stock #IGL02297
Quality Score
Status
Chromosome10
Chromosomal Location61715263-61739260 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 61735548 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 287 (A287V)
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 possibly damaging
Transcript: ENSMUST00000067857
AA Change: A287V

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000070054
Gene: ENSMUSG00000020085
AA Change: A287V

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 possibly damaging
Transcript: ENSMUST00000080099
AA Change: A287V

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000078998
Gene: ENSMUSG00000020085
AA Change: A287V

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 possibly damaging
Transcript: ENSMUST00000099706
AA Change: A287V

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097297
Gene: ENSMUSG00000020085
AA Change: A287V

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 possibly damaging
Transcript: ENSMUST00000105455
AA Change: A287V

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101095
Gene: ENSMUSG00000020085
AA Change: A287V

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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqr A G 2: 114,150,481 I273T probably benign Het
Arid3c T C 4: 41,730,021 E58G possibly damaging Het
Col5a3 G T 9: 20,772,154 T1574K unknown Het
Dbh T C 2: 27,177,736 V457A probably benign Het
Gm12888 T C 4: 121,324,799 E32G probably damaging Het
Gnaq A G 19: 16,378,251 D277G probably damaging Het
Il20 G A 1: 130,908,408 H133Y probably damaging Het
Itpr1 T A 6: 108,339,517 F58L possibly damaging Het
Lynx1 G T 15: 74,751,642 Q19K probably benign Het
Lyst G T 13: 13,638,092 E1030* probably null Het
Matn1 T A 4: 130,952,264 probably benign Het
Nav2 A T 7: 49,594,229 N2068I probably damaging Het
Olfr1469 C T 19: 13,411,475 T302I probably benign Het
Olfr948 T C 9: 39,318,703 I304V possibly damaging Het
Slc25a23 G T 17: 57,053,324 Q273K probably benign Het
Slco4a1 T G 2: 180,464,489 C155G probably benign Het
Txnip T C 3: 96,558,357 V41A probably damaging Het
Wnt16 C A 6: 22,297,991 Y285* probably null Het
Other mutations in Aifm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02561:Aifm2 APN 10 61726007 missense probably damaging 1.00
IGL02708:Aifm2 APN 10 61738575 utr 3 prime probably benign
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
X0025:Aifm2 UTSW 10 61735485 missense probably damaging 1.00
Posted On2015-04-16