Incidental Mutation 'IGL02382:Aim2'
ID |
291425 |
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)
|
Stock # |
IGL02382
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
173178445-173293606 bp(+) (GRCm39) |
Type of Mutation |
splice site (30 bp from exon) |
DNA Base Change (assembly) |
A to G
at 173287315 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc2 |
T |
C |
11: 101,217,498 (GRCm39) |
L527P |
probably damaging |
Het |
Arhgef15 |
C |
A |
11: 68,844,856 (GRCm39) |
R247L |
probably damaging |
Het |
Armcx2 |
T |
C |
X: 133,706,416 (GRCm39) |
T406A |
probably benign |
Het |
Armcx5 |
T |
C |
X: 134,647,577 (GRCm39) |
F551S |
probably damaging |
Het |
Ccrl2 |
T |
C |
9: 110,884,947 (GRCm39) |
K184E |
probably benign |
Het |
Cenpe |
A |
G |
3: 134,953,147 (GRCm39) |
I1534V |
probably benign |
Het |
Cflar |
T |
A |
1: 58,791,840 (GRCm39) |
I381K |
probably benign |
Het |
Crb1 |
T |
A |
1: 139,165,352 (GRCm39) |
N924I |
probably damaging |
Het |
Crebbp |
A |
G |
16: 3,925,934 (GRCm39) |
V729A |
probably damaging |
Het |
Dab2 |
T |
A |
15: 6,466,468 (GRCm39) |
V615D |
possibly damaging |
Het |
Edrf1 |
T |
C |
7: 133,252,344 (GRCm39) |
|
probably benign |
Het |
Ep400 |
G |
A |
5: 110,849,594 (GRCm39) |
T1409I |
unknown |
Het |
Gm14406 |
C |
A |
2: 177,260,988 (GRCm39) |
|
probably benign |
Het |
Kptn |
T |
A |
7: 15,857,945 (GRCm39) |
S258T |
probably benign |
Het |
Mbnl1 |
G |
T |
3: 60,532,563 (GRCm39) |
E291* |
probably null |
Het |
Mcm4 |
A |
T |
16: 15,442,602 (GRCm39) |
L843Q |
probably damaging |
Het |
Mgrn1 |
A |
G |
16: 4,740,482 (GRCm39) |
N274D |
probably damaging |
Het |
Or13a21 |
T |
A |
7: 139,999,516 (GRCm39) |
T57S |
possibly damaging |
Het |
Or8d1 |
G |
A |
9: 38,766,364 (GRCm39) |
G2D |
probably benign |
Het |
Phactr4 |
A |
T |
4: 132,098,152 (GRCm39) |
V335E |
probably damaging |
Het |
Ptgr2 |
T |
C |
12: 84,360,722 (GRCm39) |
S331P |
probably damaging |
Het |
Ranbp9 |
T |
C |
13: 43,589,622 (GRCm39) |
|
probably null |
Het |
Setd5 |
A |
G |
6: 113,120,601 (GRCm39) |
T937A |
probably benign |
Het |
Slc27a4 |
C |
T |
2: 29,699,855 (GRCm39) |
R265C |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Tenm3 |
A |
G |
8: 48,688,511 (GRCm39) |
Y2359H |
probably damaging |
Het |
Tnip3 |
T |
C |
6: 65,591,779 (GRCm39) |
|
probably null |
Het |
Zfc3h1 |
C |
T |
10: 115,252,781 (GRCm39) |
Q1365* |
probably null |
Het |
|
Other mutations in Aim2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
2015-04-16 |