Incidental Mutation 'IGL01663:Aifm3'
ID103247
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: 0.145) question?
Stock #IGL01663
Quality Score
Status
Chromosome16
Chromosomal Location17489611-17507485 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 17502786 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023448] [ENSMUST00000115685]
Predicted Effect probably null
Transcript: ENSMUST00000023448
SMART Domains Protein: ENSMUSP00000023448
Gene: ENSMUSG00000022763

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 null
Transcript: ENSMUST00000115685
SMART Domains Protein: ENSMUSP00000111349
Gene: ENSMUSG00000022763

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,277,802 I1085V possibly damaging Het
Adamts16 T C 13: 70,793,141 T376A probably benign Het
Ankrd16 A G 2: 11,778,662 E25G probably damaging Het
Ano6 T A 15: 95,967,614 probably null Het
Cdh18 T C 15: 23,445,991 I509T possibly damaging Het
Cdon A G 9: 35,483,214 T919A possibly damaging Het
Clca3a2 G A 3: 144,817,155 P148L probably damaging Het
Dnph1 G T 17: 46,498,482 R74L probably benign Het
Epha6 C T 16: 59,775,644 A895T probably damaging Het
Exoc3l4 T A 12: 111,429,411 probably benign Het
Fbll1 A G 11: 35,797,821 I205T probably damaging Het
Frem2 T A 3: 53,517,013 H3001L probably damaging Het
Galk2 A G 2: 125,983,179 N432D probably benign Het
Gm7535 A C 17: 17,911,357 probably benign Het
Il10 A G 1: 131,021,414 E104G probably benign Het
Il1a T C 2: 129,304,717 K152R probably benign Het
Kdm1b T A 13: 47,073,737 N568K probably damaging Het
Kmt2c A C 5: 25,310,670 L2725R probably damaging Het
Krba1 G T 6: 48,411,754 L527F probably damaging Het
Lrp2 A G 2: 69,428,706 S4547P probably benign Het
Nin G T 12: 70,043,665 A992E possibly damaging Het
Olfr510 T A 7: 108,667,891 H158Q probably benign Het
Olfr740 G A 14: 50,453,150 V33M probably benign Het
Pcdhb1 A G 18: 37,267,133 I712M possibly damaging Het
Prmt2 C T 10: 76,217,309 probably null Het
Rbm20 T G 19: 53,840,995 V608G probably damaging Het
Smarcc2 C T 10: 128,488,977 probably benign Het
Speer3 A T 5: 13,793,222 R48* probably null Het
Tlr1 A T 5: 64,925,073 N720K possibly damaging Het
Tnfrsf21 A T 17: 43,087,811 M603L probably benign Het
Ttc3 T A 16: 94,409,731 probably null Het
Usp4 C A 9: 108,365,880 A249E possibly damaging Het
Wdr20 T A 12: 110,793,514 V278E probably damaging Het
Other mutations in Aifm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Aifm3 APN 16 17500364 missense probably damaging 1.00
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 On2014-01-21