Incidental Mutation 'R6821:Aim2'
ID 537600
Institutional Source Beutler Lab
Gene Symbol Aim2
Ensembl Gene ENSMUSG00000037860
Gene Name absent in melanoma 2
Synonyms Ifi210, LOC383619
MMRRC Submission 044933-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R6821 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 173178445-173293606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 173291546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Arginine at position 317 (T317R)
Ref Sequence ENSEMBL: ENSMUSP00000132253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000147604] [ENSMUST00000160565] [ENSMUST00000166137] [ENSMUST00000173023]
AlphaFold Q91VJ1
Predicted Effect probably damaging
Transcript: ENSMUST00000147604
AA Change: T317R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119465
Gene: ENSMUSG00000037860
AA Change: T317R

DomainStartEndE-ValueType
PYRIN 6 83 2.11e-15 SMART
Pfam:HIN 156 322 2e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160565
SMART Domains Protein: ENSMUSP00000134646
Gene: ENSMUSG00000037849

DomainStartEndE-ValueType
PYRIN 6 84 5.7e-21 SMART
low complexity region 97 108 N/A INTRINSIC
internal_repeat_1 154 349 6.25e-15 PROSPERO
internal_repeat_1 342 575 6.25e-15 PROSPERO
Predicted Effect probably damaging
Transcript: ENSMUST00000166137
AA Change: T317R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132253
Gene: ENSMUSG00000037860
AA Change: T317R

DomainStartEndE-ValueType
PYRIN 6 83 2.11e-15 SMART
Pfam:HIN 156 321 9.4e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173023
SMART Domains Protein: ENSMUSP00000134329
Gene: ENSMUSG00000037860

DomainStartEndE-ValueType
PYRIN 6 83 2.11e-15 SMART
Meta Mutation Damage Score 0.6409 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (63/65)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit increased susceptibility to bacterial and viral infections with altered cytokine production and inflammatory cell death (pyrotosis). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T C 19: 55,277,268 (GRCm39) I417T probably benign Het
Adamts12 A C 15: 11,152,134 (GRCm39) K208T probably benign Het
Adamts8 T A 9: 30,867,922 (GRCm39) L582Q probably benign Het
Ano9 A T 7: 140,687,169 (GRCm39) F357I possibly damaging Het
Aox3 T C 1: 58,189,547 (GRCm39) V416A probably benign Het
Arhgap21 A C 2: 20,853,659 (GRCm39) F1901C probably benign Het
Atp8b2 A T 3: 89,855,480 (GRCm39) F506I probably damaging Het
Atp9b A T 18: 80,890,463 (GRCm39) L292H probably damaging Het
C2cd5 A G 6: 142,963,712 (GRCm39) V891A probably damaging Het
Ccnt2 T C 1: 127,731,072 (GRCm39) S650P probably damaging Het
Cdhr3 T A 12: 33,085,044 (GRCm39) N791Y probably damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
D630003M21Rik A C 2: 158,046,694 (GRCm39) L761R probably damaging Het
Draxin G T 4: 148,200,148 (GRCm39) Q101K possibly damaging Het
Dtx3l A T 16: 35,753,430 (GRCm39) L392Q probably damaging Het
Eif3d A G 15: 77,845,855 (GRCm39) S389P possibly damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Epha4 T C 1: 77,359,582 (GRCm39) N757S possibly damaging Het
Fam228b T C 12: 4,813,083 (GRCm39) I96V probably benign Het
Gars1 A G 6: 55,056,323 (GRCm39) E728G probably benign Het
Gldn T C 9: 54,246,054 (GRCm39) M535T probably benign Het
Gm47985 A G 1: 151,058,787 (GRCm39) T143A possibly damaging Het
Gpr6 T C 10: 40,947,004 (GRCm39) T193A probably benign Het
Grik5 C T 7: 24,745,780 (GRCm39) R431Q possibly damaging Het
Hecw1 T A 13: 14,438,719 (GRCm39) Y1315F probably damaging Het
Hs3st2 A G 7: 121,099,745 (GRCm39) D197G possibly damaging Het
Igsf9 T C 1: 172,312,060 (GRCm39) I2T probably benign Het
Ints9 A G 14: 65,274,907 (GRCm39) E621G probably benign Het
Itm2b G A 14: 73,603,907 (GRCm39) P47S probably benign Het
Map10 A G 8: 126,397,138 (GRCm39) K177R probably benign Het
Mdh2 T C 5: 135,818,525 (GRCm39) F260S possibly damaging Het
Mtmr11 A G 3: 96,077,723 (GRCm39) T573A probably benign Het
Mycbp2 A T 14: 103,376,845 (GRCm39) I3812N probably damaging Het
Myo15a A G 11: 60,415,301 (GRCm39) N3403S probably damaging Het
Nvl G A 1: 180,954,535 (GRCm39) Q343* probably null Het
Ocstamp A T 2: 165,239,842 (GRCm39) S115T probably benign Het
Or51ai2 A T 7: 103,586,793 (GRCm39) I69F probably benign Het
Otoa G A 7: 120,692,070 (GRCm39) probably null Het
Pcdhb20 A T 18: 37,639,175 (GRCm39) N567I probably damaging Het
Pgm5 A T 19: 24,839,011 (GRCm39) V48E possibly damaging Het
Phlpp1 T A 1: 106,314,174 (GRCm39) S1182R probably damaging Het
Pik3r4 T A 9: 105,527,805 (GRCm39) L386Q probably damaging Het
Pop1 A G 15: 34,508,785 (GRCm39) K287E possibly damaging Het
Pramel23 A T 4: 143,425,874 (GRCm39) L23* probably null Het
Rad54b A G 4: 11,612,777 (GRCm39) D803G probably damaging Het
Rbm26 G A 14: 105,354,400 (GRCm39) probably benign Het
Rspry1 C T 8: 95,362,059 (GRCm39) Q113* probably null Het
Siah2 T A 3: 58,599,191 (GRCm39) S16C probably benign Het
Sirpa C A 2: 129,472,017 (GRCm39) D481E probably damaging Het
Slc38a7 A C 8: 96,571,548 (GRCm39) D227E probably benign Het
Smc5 A G 19: 23,220,151 (GRCm39) V438A probably benign Het
Spast A G 17: 74,658,957 (GRCm39) E108G probably benign Het
Speg A G 1: 75,394,547 (GRCm39) E1752G possibly damaging Het
Tanc2 T G 11: 105,777,316 (GRCm39) probably null Het
Tgfbi T C 13: 56,773,950 (GRCm39) I243T possibly damaging Het
Tlr12 T C 4: 128,510,685 (GRCm39) S522G possibly damaging Het
Trav14-3 A G 14: 54,000,929 (GRCm39) I47V probably benign Het
Tsc22d4 T C 5: 137,760,906 (GRCm39) V109A possibly damaging Het
Ttl G A 2: 128,910,835 (GRCm39) R73H probably damaging Het
Usp34 C T 11: 23,317,491 (GRCm39) T850I possibly damaging Het
Vdac3 T C 8: 23,070,491 (GRCm39) Y140C probably damaging Het
Vmn2r120 T C 17: 57,843,659 (GRCm39) R62G probably benign Het
Vmn2r17 T A 5: 109,577,331 (GRCm39) Y461N probably damaging Het
Wt1 T A 2: 105,002,612 (GRCm39) F493I probably damaging Het
Other mutations in Aim2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Aim2 APN 1 173,283,031 (GRCm39) missense probably benign 0.23
IGL01086:Aim2 APN 1 173,282,999 (GRCm39) missense probably damaging 0.99
IGL02292:Aim2 APN 1 173,289,840 (GRCm39) missense probably benign 0.05
IGL02382:Aim2 APN 1 173,287,315 (GRCm39) splice site probably null
R0226:Aim2 UTSW 1 173,289,899 (GRCm39) unclassified probably benign
R0609:Aim2 UTSW 1 173,289,530 (GRCm39) missense probably damaging 0.98
R1281:Aim2 UTSW 1 173,287,377 (GRCm39) nonsense probably null
R2054:Aim2 UTSW 1 173,291,548 (GRCm39) missense probably damaging 1.00
R2110:Aim2 UTSW 1 173,287,279 (GRCm39) missense probably benign 0.00
R4080:Aim2 UTSW 1 173,287,417 (GRCm39) critical splice donor site probably null
R4081:Aim2 UTSW 1 173,287,417 (GRCm39) critical splice donor site probably null
R4082:Aim2 UTSW 1 173,287,417 (GRCm39) critical splice donor site probably null
R4452:Aim2 UTSW 1 173,283,010 (GRCm39) missense possibly damaging 0.63
R4647:Aim2 UTSW 1 173,283,090 (GRCm39) synonymous silent
R4731:Aim2 UTSW 1 173,291,442 (GRCm39) missense possibly damaging 0.83
R4732:Aim2 UTSW 1 173,291,442 (GRCm39) missense possibly damaging 0.83
R4733:Aim2 UTSW 1 173,291,442 (GRCm39) missense possibly damaging 0.83
R4923:Aim2 UTSW 1 173,287,372 (GRCm39) missense probably benign 0.04
R5009:Aim2 UTSW 1 173,282,932 (GRCm39) missense probably damaging 0.96
R6290:Aim2 UTSW 1 173,289,681 (GRCm39) missense possibly damaging 0.48
R6372:Aim2 UTSW 1 173,282,802 (GRCm39) splice site probably null
R6836:Aim2 UTSW 1 173,291,546 (GRCm39) missense probably damaging 1.00
R6838:Aim2 UTSW 1 173,291,546 (GRCm39) missense probably damaging 1.00
R6994:Aim2 UTSW 1 173,283,152 (GRCm39) missense possibly damaging 0.80
R7893:Aim2 UTSW 1 173,291,492 (GRCm39) missense possibly damaging 0.95
R8175:Aim2 UTSW 1 173,282,920 (GRCm39) start codon destroyed possibly damaging 0.75
R8459:Aim2 UTSW 1 173,289,536 (GRCm39) unclassified probably benign
R8680:Aim2 UTSW 1 173,289,786 (GRCm39) missense probably damaging 1.00
X0021:Aim2 UTSW 1 173,291,485 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTATTTTGGAAAGCTGCTCCTAGC -3'
(R):5'- TCAGGTCTGTGAGATGCAAAGG -3'

Sequencing Primer
(F):5'- GGAAAGCTGCTCCTAGCTTGTC -3'
(R):5'- GGCATACATATTAAGCTCTTCTCTG -3'
Posted On 2018-10-18