Incidental Mutation 'R8459:Aim2'
| ID |
655160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aim2
|
| Ensembl Gene |
ENSMUSG00000037860 |
| Gene Name |
absent in melanoma 2 |
| Synonyms |
Ifi210, LOC383619 |
| MMRRC Submission |
067836-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R8459 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
173178445-173293606 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
CTTGTTGT to CTTGT
at 173289536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134329
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000147604]
[ENSMUST00000166137]
[ENSMUST00000173023]
|
| AlphaFold |
Q91VJ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147604
|
| SMART Domains |
Protein: ENSMUSP00000119465
Gene: ENSMUSG00000037860
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
83 |
2.11e-15 |
SMART |
|
Pfam:HIN
|
156 |
322 |
2e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166137
|
| SMART Domains |
Protein: ENSMUSP00000132253
Gene: ENSMUSG00000037860
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
83 |
2.11e-15 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank1 |
T |
C |
8: 23,605,528 (GRCm39) |
V1132A |
probably damaging |
Het |
| Bpifb9a |
T |
G |
2: 154,102,153 (GRCm39) |
S83R |
probably damaging |
Het |
| Cacnb3 |
C |
T |
15: 98,537,393 (GRCm39) |
R24C |
probably damaging |
Het |
| Car8 |
C |
T |
4: 8,189,302 (GRCm39) |
V171I |
probably benign |
Het |
| Cd200l1 |
T |
A |
16: 45,238,271 (GRCm39) |
H294L |
probably benign |
Het |
| Cdk17 |
G |
C |
10: 93,068,289 (GRCm39) |
V349L |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,706,829 (GRCm39) |
E1104G |
probably damaging |
Het |
| Chml |
T |
C |
1: 175,515,597 (GRCm39) |
D108G |
probably benign |
Het |
| Cluap1 |
T |
C |
16: 3,755,453 (GRCm39) |
M356T |
probably damaging |
Het |
| Cmtm1 |
A |
G |
8: 105,036,143 (GRCm39) |
V162A |
possibly damaging |
Het |
| Cryge |
T |
C |
1: 65,087,841 (GRCm39) |
D156G |
possibly damaging |
Het |
| Disc1 |
A |
C |
8: 125,891,894 (GRCm39) |
D649A |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,944,221 (GRCm39) |
|
probably null |
Het |
| Dpp7 |
C |
A |
2: 25,242,550 (GRCm39) |
V468F |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,821,379 (GRCm39) |
V1207A |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,856,757 (GRCm39) |
F1163S |
unknown |
Het |
| Fbrs |
C |
T |
7: 127,082,329 (GRCm39) |
R327W |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,810,022 (GRCm39) |
Y2114N |
possibly damaging |
Het |
| Gnas |
A |
T |
2: 174,126,732 (GRCm39) |
H89L |
probably benign |
Het |
| Gstt1 |
G |
A |
10: 75,629,943 (GRCm39) |
R107W |
probably damaging |
Het |
| Hal |
A |
G |
10: 93,352,177 (GRCm39) |
D656G |
probably benign |
Het |
| Htra3 |
G |
A |
5: 35,828,569 (GRCm39) |
|
probably benign |
Het |
| Ighv1-64 |
G |
A |
12: 115,471,256 (GRCm39) |
A87V |
probably benign |
Het |
| Itga3 |
A |
G |
11: 94,959,633 (GRCm39) |
V80A |
probably benign |
Het |
| Lrrc58 |
A |
G |
16: 37,698,872 (GRCm39) |
N280D |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,374,107 (GRCm39) |
E1501G |
possibly damaging |
Het |
| Madd |
A |
G |
2: 90,992,871 (GRCm39) |
I1016T |
probably benign |
Het |
| Mbnl1 |
T |
G |
3: 60,529,628 (GRCm39) |
S260R |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,348 (GRCm39) |
Q100L |
probably damaging |
Het |
| Phip |
G |
T |
9: 82,758,106 (GRCm39) |
A1529D |
probably benign |
Het |
| Pramel58 |
A |
G |
5: 94,830,742 (GRCm39) |
D80G |
probably damaging |
Het |
| Prorsd1 |
T |
C |
11: 29,463,286 (GRCm39) |
T159A |
probably damaging |
Het |
| Sh3tc1 |
C |
A |
5: 35,878,933 (GRCm39) |
R67L |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,703,481 (GRCm39) |
L518* |
probably null |
Het |
| Slc26a11 |
T |
A |
11: 119,259,643 (GRCm39) |
I280N |
possibly damaging |
Het |
| Spata16 |
A |
G |
3: 26,721,676 (GRCm39) |
T66A |
probably benign |
Het |
| Syne1 |
G |
A |
10: 5,374,277 (GRCm39) |
R177* |
probably null |
Het |
| Vmn1r16 |
A |
C |
6: 57,300,347 (GRCm39) |
C92G |
probably benign |
Het |
| Vmn1r50 |
A |
G |
6: 90,084,235 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- TGCCCCGTCTGAACATAGAAC -3'
(R):5'- CATGAAGTTACTGTGCCAAAGG -3'
Sequencing Primer
(F):5'- AGGTCTCCAATCTCTTCCTAACG -3'
(R):5'- AAGTTACTGTGCCAAAGGTAGTTTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation