Incidental Mutation 'IGL00090:Aim2'
ID 1938
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aim2
Ensembl Gene ENSMUSG00000037860
Gene Name absent in melanoma 2
Synonyms Ifi210, LOC383619
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # IGL00090
Quality Score
Status
Chromosome 1
Chromosomal Location 173178445-173293606 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 173283031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 38 (S38G)
Ref Sequence ENSEMBL: ENSMUSP00000134329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000147604] [ENSMUST00000151176] [ENSMUST00000166137] [ENSMUST00000173023]
AlphaFold Q91VJ1
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135370
Predicted Effect probably benign
Transcript: ENSMUST00000147604
AA Change: S38G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119465
Gene: ENSMUSG00000037860
AA Change: S38G

DomainStartEndE-ValueType
PYRIN 6 83 2.11e-15 SMART
Pfam:HIN 156 322 2e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151176
AA Change: S38G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000121333
Gene: ENSMUSG00000037860
AA Change: S38G

DomainStartEndE-ValueType
PYRIN 6 79 9.28e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166137
AA Change: S38G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132253
Gene: ENSMUSG00000037860
AA Change: S38G

DomainStartEndE-ValueType
PYRIN 6 83 2.11e-15 SMART
Pfam:HIN 156 321 9.4e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173023
AA Change: S38G

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000134329
Gene: ENSMUSG00000037860
AA Change: S38G

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,854,345 (GRCm39) T857A probably benign Het
Abcc9 A T 6: 142,578,916 (GRCm39) probably benign Het
Adam11 A G 11: 102,667,657 (GRCm39) T709A probably benign Het
Adgre1 A G 17: 57,757,055 (GRCm39) I771V probably benign Het
Adgrv1 T G 13: 81,553,527 (GRCm39) probably null Het
Adgrv1 C T 13: 81,726,220 (GRCm39) D602N probably damaging Het
Adra1d G T 2: 131,403,597 (GRCm39) D164E possibly damaging Het
Ago3 A G 4: 126,265,334 (GRCm39) L319P probably damaging Het
Apoh A G 11: 108,286,660 (GRCm39) D28G probably benign Het
Atm C T 9: 53,435,743 (GRCm39) R189K probably damaging Het
Bbs1 T C 19: 4,943,038 (GRCm39) T451A probably benign Het
BC034090 T C 1: 155,101,193 (GRCm39) D719G possibly damaging Het
Bcr T C 10: 74,992,903 (GRCm39) probably benign Het
Bmp2 A T 2: 133,402,947 (GRCm39) Q166L probably benign Het
Bms1 A T 6: 118,381,544 (GRCm39) S665T probably benign Het
Ccser1 A T 6: 62,357,126 (GRCm39) T855S possibly damaging Het
Cfap36 C T 11: 29,172,875 (GRCm39) V217M probably benign Het
Clca3b T C 3: 144,542,393 (GRCm39) N470D probably damaging Het
Cort A G 4: 149,209,752 (GRCm39) F100S probably damaging Het
Cyp4f14 G T 17: 33,133,540 (GRCm39) D105E probably benign Het
Dnah1 A G 14: 31,009,830 (GRCm39) S1913P probably benign Het
Fam91a1 A T 15: 58,302,584 (GRCm39) H308L probably damaging Het
Fbn1 A C 2: 125,166,867 (GRCm39) I2016M probably damaging Het
Fibcd1 T A 2: 31,723,886 (GRCm39) Q251L possibly damaging Het
Flg2 T A 3: 93,109,416 (GRCm39) Y481* probably null Het
Ly9 A T 1: 171,421,019 (GRCm39) I624N probably damaging Het
Mapt C T 11: 104,213,311 (GRCm39) S301L probably damaging Het
Meiob G A 17: 25,042,603 (GRCm39) V144I probably benign Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo5a T A 9: 75,068,779 (GRCm39) C660* probably null Het
Necab3 G T 2: 154,389,488 (GRCm39) probably benign Het
Nr2c2ap A G 8: 70,585,279 (GRCm39) Y93C probably damaging Het
Nxpe5 A G 5: 138,247,096 (GRCm39) D356G probably benign Het
Or10ak9 T A 4: 118,726,484 (GRCm39) Y168N probably damaging Het
Or2w25 A T 11: 59,504,147 (GRCm39) Y119F possibly damaging Het
Plce1 A G 19: 38,734,232 (GRCm39) Q1544R probably damaging Het
Plppr4 T A 3: 117,115,869 (GRCm39) T605S probably benign Het
Poglut1 C A 16: 38,363,278 (GRCm39) W167L possibly damaging Het
Pou2f1 G T 1: 165,729,867 (GRCm39) R162S probably damaging Het
Ptprf A G 4: 118,080,417 (GRCm39) probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Rexo2 A G 9: 48,385,747 (GRCm39) S126P probably damaging Het
Robo4 A G 9: 37,322,400 (GRCm39) S844G probably damaging Het
Scn7a A G 2: 66,513,671 (GRCm39) probably benign Het
Sdc1 A G 12: 8,840,459 (GRCm39) T75A possibly damaging Het
Slc38a4 C T 15: 96,917,690 (GRCm39) E12K probably benign Het
Spata31h1 T G 10: 82,119,586 (GRCm39) M4475L probably benign Het
Tbck T C 3: 132,448,854 (GRCm39) probably null Het
Tex2 A T 11: 106,459,361 (GRCm39) V23E probably damaging Het
Zfp770 A G 2: 114,026,413 (GRCm39) V552A probably benign Het
Zfyve26 T C 12: 79,296,234 (GRCm39) probably benign Het
Other mutations in Aim2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6821:Aim2 UTSW 1 173,291,546 (GRCm39) missense probably damaging 1.00
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
Posted On 2011-07-12