Incidental Mutation 'R1281:Aim2'
| ID |
151014 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Aim2
|
| Ensembl Gene |
ENSMUSG00000037860 |
| Gene Name |
absent in melanoma 2 |
| Synonyms |
Ifi210, LOC383619 |
| MMRRC Submission |
039347-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R1281 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
173178445-173293606 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 173287377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 126
(K126*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132253
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000147604]
[ENSMUST00000151176]
[ENSMUST00000166137]
[ENSMUST00000173023]
|
| AlphaFold |
Q91VJ1 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135370
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000147604
AA Change: K126*
|
| SMART Domains |
Protein: ENSMUSP00000119465
Gene: ENSMUSG00000037860
AA Change: K126*
| 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
|
| SMART Domains |
Protein: ENSMUSP00000121333
Gene: ENSMUSG00000037860
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
79 |
9.28e-12 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166137
AA Change: K126*
|
| SMART Domains |
Protein: ENSMUSP00000132253
Gene: ENSMUSG00000037860
AA Change: K126*
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192575
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| C9 |
A |
T |
15: 6,519,321 (GRCm39) |
N386I |
possibly damaging |
Het |
| Csnk1e |
A |
C |
15: 79,304,841 (GRCm39) |
N387K |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,822,460 (GRCm39) |
T1758A |
probably damaging |
Het |
| Dcaf17 |
A |
G |
2: 70,908,500 (GRCm39) |
I256V |
probably damaging |
Het |
| Duox1 |
G |
A |
2: 122,157,569 (GRCm39) |
C565Y |
probably damaging |
Het |
| Fchsd2 |
A |
G |
7: 100,902,759 (GRCm39) |
H379R |
possibly damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Krt1c |
C |
A |
15: 101,721,727 (GRCm39) |
C438F |
probably damaging |
Het |
| Mast4 |
G |
A |
13: 102,887,086 (GRCm39) |
T1001I |
probably damaging |
Het |
| Mrc1 |
T |
C |
2: 14,298,321 (GRCm39) |
F726L |
probably damaging |
Het |
| Mroh2a |
T |
TN |
1: 88,183,889 (GRCm39) |
|
probably null |
Het |
| Mttp |
T |
C |
3: 137,812,980 (GRCm39) |
N550S |
possibly damaging |
Het |
| Necap1 |
G |
T |
6: 122,851,573 (GRCm39) |
D16Y |
possibly damaging |
Het |
| Nox3 |
A |
T |
17: 3,746,460 (GRCm39) |
I26N |
probably damaging |
Het |
| Patj |
T |
C |
4: 98,304,932 (GRCm39) |
I262T |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,005,166 (GRCm39) |
E953G |
probably damaging |
Het |
| Pirb |
A |
T |
7: 3,720,189 (GRCm39) |
C395S |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,429,250 (GRCm39) |
I433M |
probably benign |
Het |
| Sclt1 |
A |
G |
3: 41,602,055 (GRCm39) |
F552L |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,213,247 (GRCm39) |
N479S |
probably benign |
Het |
| Tg |
G |
A |
15: 66,568,338 (GRCm39) |
V1342I |
probably benign |
Het |
| Ube2n |
C |
A |
10: 95,377,618 (GRCm39) |
N132K |
probably benign |
Het |
| Vmn2r55 |
A |
T |
7: 12,404,825 (GRCm39) |
C193S |
probably benign |
Het |
| Zc3hav1 |
A |
G |
6: 38,330,872 (GRCm39) |
C96R |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,437,852 (GRCm39) |
V53E |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCAGACCACATATCAGTCACAGGAA -3'
(R):5'- GCAGACATATCTCTCCTATCGTAGCCC -3'
Sequencing Primer
(F):5'- gaggacctgaagatgggaaac -3'
(R):5'- ATCGTAGCCCGGTTTTCCTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation