Incidental Mutation 'IGL00964:Aifm3'
ID29185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aifm3
Ensembl Gene ENSMUSG00000022763
Gene Nameapoptosis-inducing factor, mitochondrion-associated 3
Synonyms2810401C16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL00964
Quality Score
Status
Chromosome16
Chromosomal Location17489611-17507485 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 17500364 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 144 (D144G)
Ref Sequence ENSEMBL: ENSMUSP00000111349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023448] [ENSMUST00000115685]
Predicted Effect probably damaging
Transcript: ENSMUST00000023448
AA Change: D144G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023448
Gene: ENSMUSG00000022763
AA Change: D144G

DomainStartEndE-ValueType
Pfam:Rieske 68 161 3.6e-18 PFAM
Pfam:Rieske_2 70 166 7.7e-11 PFAM
Pfam:Pyr_redox_2 196 473 1.1e-34 PFAM
Pfam:Pyr_redox 334 416 7e-17 PFAM
Pfam:Reductase_C 512 591 9.4e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115685
AA Change: D144G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111349
Gene: ENSMUSG00000022763
AA Change: D144G

DomainStartEndE-ValueType
Pfam:Rieske 68 161 6.5e-23 PFAM
Pfam:Rieske_2 70 166 1.4e-10 PFAM
Pfam:Pyr_redox_2 195 493 1.6e-65 PFAM
Pfam:Pyr_redox 334 416 7.3e-18 PFAM
Pfam:Reductase_C 512 586 9.3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124244
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134952
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231508
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231800
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232421
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700008O03Rik T A 7: 44,360,186 *197C probably null Het
4930432K21Rik T C 8: 84,166,714 I170T probably benign Het
Acsl6 A G 11: 54,325,646 Y213C probably damaging Het
Agt T C 8: 124,557,895 probably benign Het
Alad T C 4: 62,514,093 I32V probably benign Het
Astn2 T A 4: 66,185,187 M330L unknown Het
AU040320 T A 4: 126,854,406 C1029* probably null Het
Brca2 T A 5: 150,532,310 I172N probably damaging Het
Cdk5rap3 A G 11: 96,909,939 probably null Het
Dusp26 G T 8: 31,094,108 R81L probably benign Het
Dync2h1 T C 9: 7,174,881 probably benign Het
Ehd4 A G 2: 120,127,682 C141R probably benign Het
Ftsj3 G T 11: 106,253,115 A261D probably benign Het
Gm14085 A T 2: 122,517,046 Q229H probably damaging Het
Gm5431 G A 11: 48,889,267 T554I probably damaging Het
Hyls1 A G 9: 35,562,112 probably benign Het
Ifi213 T A 1: 173,593,952 T124S possibly damaging Het
Ints10 T A 8: 68,811,986 I457N probably damaging Het
Klk1b1 T G 7: 43,971,169 S228A possibly damaging Het
Lpar2 T C 8: 69,826,512 S319P probably benign Het
Lsr T C 7: 30,971,996 N104S probably damaging Het
Mybpc1 T A 10: 88,555,742 probably null Het
Nalcn T A 14: 123,295,384 probably benign Het
Ovol2 G A 2: 144,305,679 A217V probably damaging Het
Pcdh12 T A 18: 38,282,731 Q447L probably benign Het
Pdgfra T C 5: 75,175,065 I453T probably damaging Het
Ptprd C T 4: 75,998,556 W1037* probably null Het
Rabgef1 T C 5: 130,191,022 S109P probably damaging Het
Rev3l T C 10: 39,864,806 I2995T probably benign Het
Slamf6 T A 1: 171,917,780 C25S probably null Het
Sorbs2 A C 8: 45,795,677 N520T probably damaging Het
Spr-ps1 C A 6: 85,155,034 noncoding transcript Het
Stx4a A G 7: 127,842,726 Q92R probably benign Het
Tab2 A C 10: 7,910,073 V638G probably benign Het
Trim41 C A 11: 48,812,363 R79S possibly damaging Het
Ttll5 A G 12: 85,849,283 Y135C possibly damaging Het
Zan T C 5: 137,405,941 probably benign Het
Zdhhc14 T A 17: 5,712,481 L220Q probably damaging Het
Other mutations in Aifm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01663:Aifm3 APN 16 17502786 critical splice donor site probably null
IGL01669:Aifm3 APN 16 17503541 missense probably benign 0.06
IGL01768:Aifm3 APN 16 17506277 missense possibly damaging 0.92
IGL02562:Aifm3 APN 16 17506262 missense probably benign 0.41
IGL02617:Aifm3 APN 16 17500533 missense probably null 0.11
IGL03256:Aifm3 APN 16 17506310 missense probably benign 0.07
P0026:Aifm3 UTSW 16 17507117 unclassified probably benign
R0638:Aifm3 UTSW 16 17503671 missense possibly damaging 0.78
R4928:Aifm3 UTSW 16 17500432 intron probably benign
R5141:Aifm3 UTSW 16 17499722 missense probably damaging 1.00
R5997:Aifm3 UTSW 16 17502130 missense probably benign 0.00
R6463:Aifm3 UTSW 16 17500789 missense probably benign 0.00
R8112:Aifm3 UTSW 16 17502940 missense probably damaging 0.96
Z1177:Aifm3 UTSW 16 17500934 missense probably benign 0.25
Z1177:Aifm3 UTSW 16 17503720 missense probably benign 0.01
Posted On2013-04-17