Incidental Mutation 'IGL02292:Aim2'
ID290080
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aim2
Ensembl Gene ENSMUSG00000037860
Gene Nameabsent in melanoma 2
SynonymsLOC383619, Ifi210
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL02292
Quality Score
Status
Chromosome1
Chromosomal Location173350879-173466040 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 173462274 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 261 (I261N)
Ref Sequence ENSEMBL: ENSMUSP00000119465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000147604] [ENSMUST00000166137] [ENSMUST00000173023]
PDB Structure Structure of murine DNA binding protein bound with ds DNA [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000147604
AA Change: I261N

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000119465
Gene: ENSMUSG00000037860
AA Change: I261N

DomainStartEndE-ValueType
PYRIN 6 83 2.11e-15 SMART
Pfam:HIN 156 322 2e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166137
AA Change: I261N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132253
Gene: ENSMUSG00000037860
AA Change: I261N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192575
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik A G 7: 27,564,557 M51V probably benign Het
Abcb5 C T 12: 118,918,197 G599D probably damaging Het
Alpk3 A G 7: 81,077,905 H261R possibly damaging Het
Ankrd12 G A 17: 66,042,587 H84Y probably damaging Het
Ankrd17 T C 5: 90,252,859 probably benign Het
Apc2 C T 10: 80,302,424 P139S possibly damaging Het
Cct7 A G 6: 85,461,109 Y111C probably benign Het
Cd226 G A 18: 89,207,092 V38I possibly damaging Het
Cdh3 A G 8: 106,545,201 Y582C probably damaging Het
Csmd1 T C 8: 16,211,870 D871G probably damaging Het
Cyp4a31 A T 4: 115,566,501 N133I probably damaging Het
Fem1b T C 9: 62,796,695 I428V probably benign Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Flrt3 G A 2: 140,660,125 P528S probably damaging Het
Gm9476 A C 10: 100,307,184 noncoding transcript Het
Itgae T C 11: 73,118,535 I515T probably damaging Het
Itih1 T A 14: 30,933,355 probably null Het
Map3k4 A G 17: 12,235,158 V1419A possibly damaging Het
Mfsd6l A T 11: 68,557,750 I476L probably benign Het
Mrpl2 T C 17: 46,648,231 probably benign Het
Mrpl37 A G 4: 107,060,532 L314P probably damaging Het
Msto1 C A 3: 88,911,824 R205S probably benign Het
Myh9 A T 15: 77,807,996 I121N probably damaging Het
Olfr1201 G A 2: 88,795,287 V302I probably benign Het
Omt2a G A 9: 78,313,339 R20C possibly damaging Het
Pdpr G A 8: 111,125,680 V560I probably damaging Het
Rimkla A T 4: 119,468,352 C287S probably damaging Het
Shcbp1l T A 1: 153,436,145 probably benign Het
Tm7sf2 T A 19: 6,063,568 K111I probably damaging Het
Tnfrsf21 A G 17: 43,039,911 E322G probably benign Het
Ttn A G 2: 76,881,199 probably benign Het
Zbtb20 T A 16: 43,610,648 Y507* probably null Het
Other mutations in Aim2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Aim2 APN 1 173455465 missense probably benign 0.23
IGL01086:Aim2 APN 1 173455433 missense probably damaging 0.99
IGL02382:Aim2 APN 1 173459749 splice site probably null
R0226:Aim2 UTSW 1 173462333 unclassified probably benign
R0609:Aim2 UTSW 1 173461964 missense probably damaging 0.98
R1281:Aim2 UTSW 1 173459811 nonsense probably null
R2054:Aim2 UTSW 1 173463982 missense probably damaging 1.00
R2110:Aim2 UTSW 1 173459713 missense probably benign 0.00
R4080:Aim2 UTSW 1 173459851 critical splice donor site probably null
R4081:Aim2 UTSW 1 173459851 critical splice donor site probably null
R4082:Aim2 UTSW 1 173459851 critical splice donor site probably null
R4452:Aim2 UTSW 1 173455444 missense possibly damaging 0.63
R4647:Aim2 UTSW 1 173455524 synonymous silent
R4731:Aim2 UTSW 1 173463876 missense possibly damaging 0.83
R4732:Aim2 UTSW 1 173463876 missense possibly damaging 0.83
R4733:Aim2 UTSW 1 173463876 missense possibly damaging 0.83
R4923:Aim2 UTSW 1 173459806 missense probably benign 0.04
R5009:Aim2 UTSW 1 173455366 missense probably damaging 0.96
R6290:Aim2 UTSW 1 173462115 missense possibly damaging 0.48
R6372:Aim2 UTSW 1 173455236 splice site probably null
R6821:Aim2 UTSW 1 173463980 missense probably damaging 1.00
R6836:Aim2 UTSW 1 173463980 missense probably damaging 1.00
R6838:Aim2 UTSW 1 173463980 missense probably damaging 1.00
R6994:Aim2 UTSW 1 173455586 missense possibly damaging 0.80
R7893:Aim2 UTSW 1 173463926 missense possibly damaging 0.95
R8175:Aim2 UTSW 1 173455354 start codon destroyed possibly damaging 0.75
R8459:Aim2 UTSW 1 173461970 unclassified probably benign
R8680:Aim2 UTSW 1 173462220 missense probably damaging 1.00
X0021:Aim2 UTSW 1 173463919 missense probably damaging 1.00
Posted On2015-04-16