Incidental Mutation 'IGL02382:Aim2'
ID291425
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: 0.063) question?
Stock #IGL02382
Quality Score
Status
Chromosome1
Chromosomal Location173350879-173466040 bp(+) (GRCm38)
Type of Mutationunclassified (30 bp from exon)
DNA Base Change (assembly) A to G at 173459749 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000147604] [ENSMUST00000151176] [ENSMUST00000166137] [ENSMUST00000173023]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135370
Predicted Effect possibly damaging
Transcript: ENSMUST00000147604
AA Change: E105G

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119465
Gene: ENSMUSG00000037860
AA Change: E105G

DomainStartEndE-ValueType
PYRIN 6 83 2.11e-15 SMART
Pfam:HIN 156 322 2e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000151176
SMART Domains Protein: ENSMUSP00000121333
Gene: ENSMUSG00000037860

DomainStartEndE-ValueType
PYRIN 6 79 9.28e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000166137
AA Change: E105G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132253
Gene: ENSMUSG00000037860
AA Change: E105G

DomainStartEndE-ValueType
PYRIN 6 83 2.11e-15 SMART
Pfam:HIN 156 321 9.4e-70 PFAM
Predicted Effect probably null
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc2 T C 11: 101,326,672 L527P probably damaging Het
Arhgef15 C A 11: 68,954,030 R247L probably damaging Het
Armcx2 T C X: 134,805,667 T406A probably benign Het
Armcx5 T C X: 135,746,828 F551S probably damaging Het
Ccrl2 T C 9: 111,055,879 K184E probably benign Het
Cenpe A G 3: 135,247,386 I1534V probably benign Het
Cflar T A 1: 58,752,681 I381K probably benign Het
Crb1 T A 1: 139,237,614 N924I probably damaging Het
Crebbp A G 16: 4,108,070 V729A probably damaging Het
Dab2 T A 15: 6,436,987 V615D possibly damaging Het
Edrf1 T C 7: 133,650,615 probably benign Het
Ep400 G A 5: 110,701,728 T1409I unknown Het
Gm14406 C A 2: 177,569,195 probably benign Het
Kptn T A 7: 16,124,020 S258T probably benign Het
Mbnl1 G T 3: 60,625,142 E291* probably null Het
Mcm4 A T 16: 15,624,738 L843Q probably damaging Het
Mgrn1 A G 16: 4,922,618 N274D probably damaging Het
Olfr26 G A 9: 38,855,068 G2D probably benign Het
Olfr532 T A 7: 140,419,603 T57S possibly damaging Het
Phactr4 A T 4: 132,370,841 V335E probably damaging Het
Ptgr2 T C 12: 84,313,948 S331P probably damaging Het
Ranbp9 T C 13: 43,436,146 probably null Het
Setd5 A G 6: 113,143,640 T937A probably benign Het
Slc27a4 C T 2: 29,809,843 R265C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tenm3 A G 8: 48,235,476 Y2359H probably damaging Het
Tnip3 T C 6: 65,614,795 probably null Het
Zfc3h1 C T 10: 115,416,876 Q1365* 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
IGL02292:Aim2 APN 1 173462274 missense probably benign 0.05
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 intron 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
X0021:Aim2 UTSW 1 173463919 missense probably damaging 1.00
Posted On2015-04-16