Incidental Mutation 'R4452:Aim2'
| ID |
328993 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aim2
|
| Ensembl Gene |
ENSMUSG00000037860 |
| Gene Name |
absent in melanoma 2 |
| Synonyms |
Ifi210, LOC383619 |
| MMRRC Submission |
041713-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R4452 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173178445-173293606 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 173283010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 31
(T31A)
|
| 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: T31A
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000119465
Gene: ENSMUSG00000037860
AA Change: T31A
| 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: ENSMUST00000151176
AA Change: T31A
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000121333
Gene: ENSMUSG00000037860
AA Change: T31A
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
79 |
9.28e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166137
AA Change: T31A
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000132253
Gene: ENSMUSG00000037860
AA Change: T31A
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
83 |
2.11e-15 |
SMART |
|
Pfam:HIN
|
156 |
321 |
9.4e-70 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173023
AA Change: T31A
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134329
Gene: ENSMUSG00000037860
AA Change: T31A
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
83 |
2.11e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192575
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
98% (48/49) |
| 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 |
|---|
| Acsm4 |
A |
G |
7: 119,297,797 (GRCm39) |
T145A |
possibly damaging |
Het |
| Adgra1 |
G |
T |
7: 139,432,437 (GRCm39) |
A92S |
probably benign |
Het |
| Cd46 |
G |
A |
1: 194,767,668 (GRCm39) |
A131V |
possibly damaging |
Het |
| Cdc27 |
A |
T |
11: 104,408,221 (GRCm39) |
M563K |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,704,308 (GRCm39) |
N721I |
probably damaging |
Het |
| Cnn2 |
A |
G |
10: 79,827,276 (GRCm39) |
D49G |
probably benign |
Het |
| Cul1 |
T |
A |
6: 47,485,923 (GRCm39) |
Y323* |
probably null |
Het |
| D5Ertd579e |
A |
G |
5: 36,773,814 (GRCm39) |
W194R |
probably damaging |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,917,908 (GRCm39) |
A2249T |
probably damaging |
Het |
| Dppa4 |
T |
A |
16: 48,109,699 (GRCm39) |
D106E |
probably benign |
Het |
| Gja10 |
A |
G |
4: 32,601,313 (GRCm39) |
V357A |
probably benign |
Het |
| Gm20481 |
T |
G |
17: 35,191,109 (GRCm39) |
|
probably benign |
Het |
| Grxcr2 |
T |
C |
18: 42,119,609 (GRCm39) |
N244D |
probably damaging |
Het |
| Klk1b11 |
T |
A |
7: 43,645,335 (GRCm39) |
F3I |
probably damaging |
Het |
| Mid1 |
T |
C |
X: 168,710,421 (GRCm39) |
V139A |
possibly damaging |
Het |
| Mycbp2 |
T |
C |
14: 103,393,094 (GRCm39) |
K3046E |
probably damaging |
Het |
| Nfasc |
T |
C |
1: 132,562,409 (GRCm39) |
N122S |
probably damaging |
Het |
| Or11j4 |
A |
T |
14: 50,630,369 (GRCm39) |
Y52F |
probably benign |
Het |
| Or4c124 |
T |
A |
2: 89,155,597 (GRCm39) |
D309V |
possibly damaging |
Het |
| Or52ac1 |
T |
A |
7: 104,245,846 (GRCm39) |
M181L |
probably damaging |
Het |
| Or52i2 |
T |
C |
7: 102,319,256 (GRCm39) |
V43A |
probably benign |
Het |
| Or8d1b |
T |
C |
9: 38,887,382 (GRCm39) |
S137P |
probably benign |
Het |
| Or8h9 |
C |
T |
2: 86,789,043 (GRCm39) |
G253D |
probably damaging |
Het |
| P2ry10b |
C |
T |
X: 106,214,724 (GRCm39) |
T28I |
probably damaging |
Het |
| Pdxdc1 |
T |
C |
16: 13,654,990 (GRCm39) |
Y675C |
possibly damaging |
Het |
| Plcl1 |
A |
G |
1: 55,736,045 (GRCm39) |
N462S |
probably benign |
Het |
| Ptf1a |
G |
T |
2: 19,451,092 (GRCm39) |
A141S |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,468,203 (GRCm39) |
L1028P |
probably damaging |
Het |
| Qrsl1 |
A |
G |
10: 43,758,158 (GRCm39) |
S312P |
probably damaging |
Het |
| Sars2 |
A |
G |
7: 28,449,518 (GRCm39) |
T349A |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,377,409 (GRCm39) |
F208I |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,854,972 (GRCm39) |
N153S |
possibly damaging |
Het |
| Sema4c |
A |
T |
1: 36,592,837 (GRCm39) |
V127D |
probably benign |
Het |
| Smg6 |
C |
G |
11: 74,880,967 (GRCm39) |
S931C |
probably benign |
Het |
| Trpm2 |
A |
T |
10: 77,759,427 (GRCm39) |
L1119Q |
probably damaging |
Het |
| Ubtd2 |
T |
A |
11: 32,449,406 (GRCm39) |
N84K |
probably damaging |
Het |
| Ugt2b35 |
A |
T |
5: 87,151,237 (GRCm39) |
H281L |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,213,789 (GRCm39) |
|
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTATGCCTTGTTAACCAC -3'
(R):5'- ATATCATTAAGGGAGGGCACTC -3'
Sequencing Primer
(F):5'- GGGTATGCCTTGTTAACCACTTACC -3'
(R):5'- AGGGCACTCCTACGCAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation