Incidental Mutation 'R8112:Aifm3'
ID630962
Institutional Source Beutler Lab
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: 0.115) question?
Stock #R8112 (G1)
Quality Score225.009
Status Not validated
Chromosome16
Chromosomal Location17489611-17507485 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 17502940 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 422 (V422A)
Ref Sequence ENSEMBL: ENSMUSP00000111349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023448] [ENSMUST00000115685]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023448
AA Change: V422A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023448
Gene: ENSMUSG00000022763
AA Change: V422A

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: V422A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000111349
Gene: ENSMUSG00000022763
AA Change: V422A

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.5%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,314,624 V3002A probably benign Het
Alx3 G T 3: 107,604,984 E313* probably null Het
Arfgef3 A G 10: 18,652,631 V336A possibly damaging Het
Art5 A T 7: 102,098,011 V187E probably benign Het
Atxn1 A G 13: 45,567,957 V154A probably benign Het
B3galt1 A G 2: 68,118,358 D139G probably damaging Het
BC005561 T C 5: 104,521,635 F1341S probably benign Het
Cbx5 A G 15: 103,199,744 V158A probably benign Het
Cdca7l T C 12: 117,877,044 probably null Het
Cecr2 T C 6: 120,762,214 S1301P probably benign Het
Chmp3 T A 6: 71,561,028 S80T probably benign Het
Cyp2g1 T A 7: 26,819,461 D427E probably benign Het
Depdc5 G A 5: 32,968,706 V1199I possibly damaging Het
Ehmt1 G T 2: 24,863,384 L335M probably damaging Het
Elfn2 A G 15: 78,673,435 V304A probably damaging Het
Emc1 C T 4: 139,367,187 R684W probably benign Het
Eme2 A T 17: 24,894,835 V72E probably damaging Het
Fam208b A T 13: 3,569,516 D2238E probably damaging Het
Gen1 T A 12: 11,254,373 K230* probably null Het
Gfap T A 11: 102,897,102 I6F probably benign Het
Gm11639 T C 11: 104,950,200 V3643A unknown Het
Grid2 T C 6: 63,908,907 S96P probably damaging Het
H2-M2 A G 17: 37,483,492 L13P unknown Het
Hps4 T G 5: 112,370,111 C323W probably benign Het
Ing3 A G 6: 21,952,182 K52E probably damaging Het
Ippk C T 13: 49,446,342 P226S Het
Klhl3 C T 13: 58,013,863 V473M possibly damaging Het
Krt4 T A 15: 101,920,289 N380I probably damaging Het
Lrp1 A T 10: 127,605,846 C174S probably damaging Het
Lrrc8e T C 8: 4,235,575 I600T probably benign Het
Malt1 T C 18: 65,449,609 probably null Het
Mindy1 T C 3: 95,294,811 L333P probably damaging Het
Mrgprb1 A G 7: 48,447,934 S77P probably damaging Het
Mtus2 G T 5: 148,076,903 E169* probably null Het
Muc5b A G 7: 141,862,028 T2904A possibly damaging Het
Noxa1 C T 2: 25,092,541 probably null Het
Ogfod3 G A 11: 121,204,550 R5W probably damaging Het
Olfr1312 T A 2: 112,042,637 I132F probably damaging Het
Olfr1504 A G 19: 13,887,389 S274P probably damaging Het
Olfr855 T A 9: 19,584,724 F62L probably benign Het
Pgm3 C A 9: 86,564,775 R230L probably benign Het
Plpbp A G 8: 27,046,041 I121V unknown Het
Prl8a9 T C 13: 27,559,372 D150G probably benign Het
Psapl1 A G 5: 36,205,575 N504D probably benign Het
Ptchd4 A C 17: 42,503,175 N656H probably benign Het
Ptprs A T 17: 56,434,532 Y577* probably null Het
Rasgef1c A G 11: 49,967,401 Y263C probably damaging Het
Rinl A G 7: 28,790,589 probably null Het
Scd4 T C 19: 44,337,506 F100L probably benign Het
Scgb2b20 T G 7: 33,364,544 R100S probably benign Het
Scn8a C T 15: 101,029,837 A1399V probably benign Het
Slc22a7 A G 17: 46,436,830 V267A probably benign Het
Slc7a11 T C 3: 50,417,991 E263G possibly damaging Het
Slmap A G 14: 26,422,548 L728P probably damaging Het
Smarcb1 A T 10: 75,910,152 probably null Het
Sspn T C 6: 145,955,635 V80A possibly damaging Het
Terb1 T C 8: 104,468,767 T581A probably benign Het
Themis A G 10: 28,797,506 *596W probably null Het
Trac T C 14: 54,223,100 probably benign Het
Trim37 T C 11: 87,218,267 F940S possibly damaging Het
Trpa1 T C 1: 14,904,266 T231A probably benign Het
Ttn T C 2: 76,750,185 I23455V probably benign Het
Wap G T 11: 6,636,724 T125K probably benign Het
Wdfy4 G A 14: 33,104,115 P1193L Het
Zfp85 T C 13: 67,748,774 D393G possibly damaging 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
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
Z1177:Aifm3 UTSW 16 17500934 missense probably benign 0.25
Z1177:Aifm3 UTSW 16 17503720 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CAACCGGGTGAAGTTCTATATGC -3'
(R):5'- AGCTGGTATCATAGAGAGCAGTC -3'

Sequencing Primer
(F):5'- TCAGAGTTGCGGGCTCAAG -3'
(R):5'- CTGGTATCATAGAGAGCAGTCACCTG -3'
Posted On2020-06-30