Incidental Mutation 'R8307:Aifm2'
ID 641141
Institutional Source Beutler Lab
Gene Symbol Aifm2
Ensembl Gene ENSMUSG00000020085
Gene Name apoptosis-inducing factor, mitochondrion-associated 2
Synonyms Amid, 5430437E11Rik, D730001I10Rik, PRG3
MMRRC Submission 067717-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R8307 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 61551042-61575039 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61562171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 69 (Y69C)
Ref Sequence ENSEMBL: ENSMUSP00000078998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067857] [ENSMUST00000080099] [ENSMUST00000099706] [ENSMUST00000105455]
AlphaFold Q8BUE4
Predicted Effect probably damaging
Transcript: ENSMUST00000067857
AA Change: Y69C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070054
Gene: ENSMUSG00000020085
AA Change: Y69C

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 probably damaging
Transcript: ENSMUST00000080099
AA Change: Y69C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078998
Gene: ENSMUSG00000020085
AA Change: Y69C

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 probably damaging
Transcript: ENSMUST00000099706
AA Change: Y69C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097297
Gene: ENSMUSG00000020085
AA Change: Y69C

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 probably damaging
Transcript: ENSMUST00000105455
AA Change: Y69C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101095
Gene: ENSMUSG00000020085
AA Change: Y69C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (56/56)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik C A 4: 148,025,837 (GRCm39) T119K probably benign Het
Abca13 T A 11: 9,227,922 (GRCm39) L655* probably null Het
Atp2c1 C T 9: 105,320,030 (GRCm39) V448I probably benign Het
Barx2 A G 9: 31,770,307 (GRCm39) S74P probably damaging Het
Bod1l T C 5: 41,978,498 (GRCm39) K939E probably damaging Het
Cdh12 C A 15: 21,358,949 (GRCm39) F124L probably benign Het
Cdh12 T A 15: 21,358,950 (GRCm39) Y125N probably damaging Het
Cdx2 A G 5: 147,243,477 (GRCm39) Y106H possibly damaging Het
Chmp1a C T 8: 123,932,980 (GRCm39) G158S probably damaging Het
Cilp G A 9: 65,186,286 (GRCm39) G794S probably damaging Het
Cntnap1 A T 11: 101,079,702 (GRCm39) Y1277F possibly damaging Het
Csde1 A G 3: 102,946,389 (GRCm39) probably benign Het
Dennd4c A C 4: 86,744,109 (GRCm39) D1317A probably benign Het
Dgcr2 C T 16: 17,676,242 (GRCm39) G176D probably benign Het
Dock2 A T 11: 34,260,362 (GRCm39) M993K possibly damaging Het
Dpy19l1 G A 9: 24,414,297 (GRCm39) P44S probably benign Het
Dsg2 C T 18: 20,708,121 (GRCm39) P74L probably benign Het
Epg5 T A 18: 78,065,894 (GRCm39) F2078Y probably damaging Het
Fancl A G 11: 26,349,642 (GRCm39) probably benign Het
Fbn1 C A 2: 125,347,402 (GRCm39) R41L possibly damaging Het
Gemin5 G A 11: 58,042,420 (GRCm39) T467M probably damaging Het
Hexb T C 13: 97,330,707 (GRCm39) Q102R probably benign Het
Hmcn2 A G 2: 31,286,127 (GRCm39) D2093G probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Igkv1-131 A G 6: 67,743,051 (GRCm39) Y111H probably damaging Het
Il6st G T 13: 112,624,281 (GRCm39) G177V probably benign Het
Kank4 G A 4: 98,666,915 (GRCm39) Q511* probably null Het
Krt90 A G 15: 101,467,634 (GRCm39) L248P probably damaging Het
Krtap5-2 A G 7: 141,728,586 (GRCm39) C187R unknown Het
Lonp1 C A 17: 56,933,573 (GRCm39) A101S probably benign Het
Nckap5l A G 15: 99,321,058 (GRCm39) C1241R probably damaging Het
Or1j11 A G 2: 36,312,333 (GRCm39) T308A probably benign Het
Or4c11c G A 2: 88,661,633 (GRCm39) M57I possibly damaging Het
Or6c203 T C 10: 129,010,101 (GRCm39) D263G probably benign Het
Pcdh15 T A 10: 74,342,307 (GRCm39) C1131* probably null Het
Pcdhgc3 A G 18: 37,940,847 (GRCm39) D416G probably damaging Het
Pikfyve T C 1: 65,284,894 (GRCm39) M786T possibly damaging Het
Pink1 A T 4: 138,045,273 (GRCm39) M297K probably benign Het
Pln T C 10: 53,219,975 (GRCm39) Y6H unknown Het
Ppp2r2c A G 5: 37,104,430 (GRCm39) D270G probably damaging Het
Pramel58 T G 5: 94,831,416 (GRCm39) L141R probably damaging Het
Prcd A T 11: 116,550,199 (GRCm39) T76S possibly damaging Het
Pxylp1 A G 9: 96,721,137 (GRCm39) probably null Het
Rab11fip4 A T 11: 79,581,600 (GRCm39) N532Y possibly damaging Het
Ralgapa1 C A 12: 55,788,308 (GRCm39) V592L probably damaging Het
Robo2 T C 16: 73,753,498 (GRCm39) D793G probably damaging Het
Sec14l1 G A 11: 117,034,242 (GRCm39) probably null Het
Srcap T A 7: 127,124,541 (GRCm39) V237E probably damaging Het
Srl A G 16: 4,315,009 (GRCm39) I211T probably benign Het
Tasor G T 14: 27,193,622 (GRCm39) A941S probably damaging Het
Tet3 A G 6: 83,356,909 (GRCm39) V883A probably damaging Het
Trim46 A G 3: 89,151,223 (GRCm39) Y113H probably benign Het
Trim58 G A 11: 58,537,909 (GRCm39) A267T probably benign Het
Tsks G A 7: 44,607,086 (GRCm39) G140S Het
Vmn2r110 C A 17: 20,803,319 (GRCm39) V419L probably benign Het
Vmn2r66 A G 7: 84,656,270 (GRCm39) F249L probably benign Het
Vps8 A C 16: 21,314,652 (GRCm39) D584A probably benign Het
Zfp605 T A 5: 110,276,063 (GRCm39) C394S probably damaging Het
Zscan4e A G 7: 11,041,059 (GRCm39) I271T probably benign Het
Other mutations in Aifm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02297:Aifm2 APN 10 61,571,327 (GRCm39) missense possibly damaging 0.62
IGL02561:Aifm2 APN 10 61,561,786 (GRCm39) missense probably damaging 1.00
IGL02708:Aifm2 APN 10 61,574,354 (GRCm39) utr 3 prime probably benign
R0690:Aifm2 UTSW 10 61,562,231 (GRCm39) missense probably benign 0.01
R2119:Aifm2 UTSW 10 61,571,383 (GRCm39) missense possibly damaging 0.60
R2404:Aifm2 UTSW 10 61,563,974 (GRCm39) missense probably benign 0.08
R4698:Aifm2 UTSW 10 61,563,535 (GRCm39) missense probably benign 0.00
R4826:Aifm2 UTSW 10 61,561,768 (GRCm39) missense probably benign
R5228:Aifm2 UTSW 10 61,568,196 (GRCm39) missense probably damaging 0.99
R5668:Aifm2 UTSW 10 61,561,696 (GRCm39) missense probably damaging 1.00
R7378:Aifm2 UTSW 10 61,563,496 (GRCm39) missense possibly damaging 0.79
R9118:Aifm2 UTSW 10 61,561,681 (GRCm39) missense probably benign 0.09
R9130:Aifm2 UTSW 10 61,563,505 (GRCm39) missense probably null 0.73
R9321:Aifm2 UTSW 10 61,571,410 (GRCm39) nonsense probably null
X0025:Aifm2 UTSW 10 61,571,264 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGAGCTTAGGTTCTTCTGAGG -3'
(R):5'- ACCATCTTGTGTCTGCCGTG -3'

Sequencing Primer
(F):5'- GACCAGACGGGCACTTCAG -3'
(R):5'- TCTGCCGTGACCAACATGAG -3'
Posted On 2020-07-28