Incidental Mutation 'IGL01669:Aifm3'
ID103395
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: 0.140) question?
Stock #IGL01669
Quality Score
Status
Chromosome16
Chromosomal Location17489611-17507485 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 17503541 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Threonine at position 453 (K453T)
Ref Sequence ENSEMBL: ENSMUSP00000111349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023448] [ENSMUST00000115685]
Predicted Effect probably benign
Transcript: ENSMUST00000023448
AA Change: K453T

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000023448
Gene: ENSMUSG00000022763
AA Change: K453T

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 benign
Transcript: ENSMUST00000115685
AA Change: K453T

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000111349
Gene: ENSMUSG00000022763
AA Change: K453T

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl4 G T X: 142,343,188 D313E probably damaging Het
Anks1b T C 10: 90,897,238 probably benign Het
Arfgef1 T C 1: 10,159,615 D1287G probably damaging Het
Bcl3 G A 7: 19,812,491 Q140* probably null Het
Bnipl T G 3: 95,242,734 R316S probably damaging Het
Cacna1i T A 15: 80,391,757 H1916Q probably benign Het
Ccdc171 C T 4: 83,681,195 A749V probably damaging Het
Ceacam18 G A 7: 43,645,515 G333E probably damaging Het
Cul7 G T 17: 46,658,715 M969I possibly damaging Het
Cylc2 A G 4: 51,228,360 T144A probably benign Het
Cyp2c50 A T 19: 40,098,051 H294L probably damaging Het
D430041D05Rik T C 2: 104,254,961 K1081R probably damaging Het
D930020B18Rik A G 10: 121,683,961 K456R probably benign Het
Drd2 A G 9: 49,402,089 N186S possibly damaging Het
Fanci A T 7: 79,449,177 E1306D probably benign Het
Fbxl21 T A 13: 56,527,709 probably benign Het
Galk2 T A 2: 125,887,887 Y63N probably damaging Het
Git2 T C 5: 114,767,105 D97G probably damaging Het
Gm8258 T A 5: 104,776,074 noncoding transcript Het
Irf4 G T 13: 30,757,471 S270I probably damaging Het
Itgb3 C A 11: 104,633,390 probably benign Het
Itpr2 A C 6: 146,180,229 I2299R probably damaging Het
Lig4 T C 8: 9,973,673 I36V probably benign Het
Nedd9 A G 13: 41,338,635 V133A probably damaging Het
Nup133 A C 8: 123,939,130 Y185* probably null Het
Olfr1162 T C 2: 88,049,784 Y280C possibly damaging Het
Olfr623 A T 7: 103,660,987 F88I probably benign Het
Olfr788 A G 10: 129,473,211 H173R probably damaging Het
Pgbd5 T A 8: 124,374,399 T373S possibly damaging Het
Ppp1r8 T C 4: 132,828,169 E246G probably benign Het
Rmnd5b C T 11: 51,627,900 V89M probably damaging Het
Rnf123 T C 9: 108,058,356 I969V probably damaging Het
Ror2 A G 13: 53,111,088 I656T probably damaging Het
Sgsm1 T C 5: 113,263,490 E503G probably benign Het
Smgc T A 15: 91,860,684 S381T possibly damaging Het
Tlr4 T G 4: 66,841,267 F766V possibly damaging Het
Tnc T C 4: 64,000,701 T1162A probably damaging Het
Usp39 A G 6: 72,338,493 V156A probably damaging Het
Zdhhc5 A G 2: 84,691,194 Y352H probably damaging Het
Zfp646 A G 7: 127,878,965 T105A probably benign Het
Other mutations in Aifm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00964:Aifm3 APN 16 17500364 missense probably damaging 1.00
IGL01663:Aifm3 APN 16 17502786 critical splice donor site probably null
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