Incidental Mutation 'IGL00742:Aimp1'
| ID |
8700 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Aimp1
|
| Ensembl Gene |
ENSMUSG00000028029 |
| Gene Name |
aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 |
| Synonyms |
Scye1, Emap2, EMAPII, 9830137A06Rik, AIMP1/p43 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.832)
|
| Stock # |
IGL00742
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
132366242-132390131 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 132377742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 208
(Q208*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029663]
[ENSMUST00000196206]
[ENSMUST00000196963]
[ENSMUST00000197793]
[ENSMUST00000198513]
|
| AlphaFold |
P31230 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029663
AA Change: Q208*
|
| SMART Domains |
Protein: ENSMUSP00000029663
Gene: ENSMUSG00000028029
AA Change: Q208*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
17 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
124 |
144 |
N/A |
INTRINSIC |
|
Pfam:tRNA_bind
|
164 |
257 |
2.9e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196206
|
| SMART Domains |
Protein: ENSMUSP00000142914
Gene: ENSMUSG00000028029
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
8 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197646
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197793
|
| SMART Domains |
Protein: ENSMUSP00000142534
Gene: ENSMUSG00000028029
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
8 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198513
|
| SMART Domains |
Protein: ENSMUSP00000142513
Gene: ENSMUSG00000028029
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
8 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200025
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytokine that is specifically induced by apoptosis, and it is involved in the control of angiogenesis, inflammation, and wound healing. The release of this cytokine renders the tumor-associated vasculature sensitive to tumor necrosis factor. The precursor protein is identical to the p43 subunit, which is associated with the multi-tRNA synthetase complex, and it modulates aminoacylation activity of tRNA synthetase in normal cells. This protein is also involved in the stimulation of inflammatory responses after proteolytic cleavage in tumor cells. Multiple transcript variants encoding different isoforms have been found for this gene. A pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a gene trap allele display delayed wound healing and decreased inflammatory response after wounding. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck5 |
G |
T |
15: 76,473,300 (GRCm39) |
A50S |
possibly damaging |
Het |
| Adgrg2 |
C |
T |
X: 159,271,715 (GRCm39) |
T778M |
probably damaging |
Het |
| Auh |
T |
C |
13: 52,992,138 (GRCm39) |
E210G |
probably damaging |
Het |
| Cdh20 |
T |
G |
1: 109,993,356 (GRCm39) |
N270K |
probably benign |
Het |
| Chrna9 |
A |
G |
5: 66,128,458 (GRCm39) |
E218G |
probably benign |
Het |
| Cntn5 |
G |
T |
9: 9,976,302 (GRCm39) |
T214K |
probably damaging |
Het |
| Col11a1 |
A |
T |
3: 113,917,964 (GRCm39) |
D766V |
unknown |
Het |
| Ddb1 |
A |
G |
19: 10,588,124 (GRCm39) |
N203S |
probably benign |
Het |
| Eefsec |
A |
T |
6: 88,353,261 (GRCm39) |
L136Q |
possibly damaging |
Het |
| Hdac6 |
T |
C |
X: 7,797,568 (GRCm39) |
D1019G |
probably benign |
Het |
| Ift88 |
T |
A |
14: 57,718,843 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,839,771 (GRCm39) |
C693S |
probably benign |
Het |
| Il18r1 |
T |
A |
1: 40,520,151 (GRCm39) |
S181T |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,984,785 (GRCm39) |
Q291R |
probably damaging |
Het |
| Krt81 |
G |
A |
15: 101,358,159 (GRCm39) |
R365C |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,492,321 (GRCm39) |
E269G |
probably benign |
Het |
| Lpin3 |
A |
G |
2: 160,735,918 (GRCm39) |
D66G |
probably damaging |
Het |
| Map9 |
T |
C |
3: 82,270,727 (GRCm39) |
V97A |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,328,769 (GRCm39) |
E1129G |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,935,104 (GRCm39) |
H200L |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,438,788 (GRCm39) |
L2031S |
probably damaging |
Het |
| Nfatc1 |
C |
T |
18: 80,741,229 (GRCm39) |
R243H |
probably benign |
Het |
| Omg |
T |
A |
11: 79,394,739 (GRCm39) |
|
probably benign |
Het |
| Or51ah3 |
A |
T |
7: 103,210,563 (GRCm39) |
Y293F |
probably damaging |
Het |
| Postn |
T |
A |
3: 54,280,315 (GRCm39) |
N413K |
possibly damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,718,608 (GRCm39) |
T769A |
probably benign |
Het |
| Pvr |
G |
A |
7: 19,648,784 (GRCm39) |
P244S |
probably damaging |
Het |
| Rabl6 |
T |
C |
2: 25,478,699 (GRCm39) |
E244G |
probably damaging |
Het |
| Satb2 |
A |
T |
1: 56,870,700 (GRCm39) |
N428K |
possibly damaging |
Het |
| Svopl |
A |
G |
6: 38,007,952 (GRCm39) |
|
probably null |
Het |
| Synpo2 |
G |
T |
3: 122,907,525 (GRCm39) |
P597Q |
probably damaging |
Het |
| Tacc3 |
T |
A |
5: 33,818,578 (GRCm39) |
H4Q |
possibly damaging |
Het |
| Ugt2b5 |
C |
T |
5: 87,275,673 (GRCm39) |
G393S |
probably damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,834 (GRCm39) |
I715T |
possibly damaging |
Het |
|
| Other mutations in Aimp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Aimp1
|
APN |
3 |
132,382,904 (GRCm39) |
splice site |
probably benign |
|
|
IGL01863:Aimp1
|
APN |
3 |
132,377,853 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02432:Aimp1
|
APN |
3 |
132,379,738 (GRCm39) |
missense |
probably benign |
|
|
R0305:Aimp1
|
UTSW |
3 |
132,379,747 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0699:Aimp1
|
UTSW |
3 |
132,380,626 (GRCm39) |
splice site |
probably benign |
|
|
R1734:Aimp1
|
UTSW |
3 |
132,380,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1793:Aimp1
|
UTSW |
3 |
132,379,825 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1975:Aimp1
|
UTSW |
3 |
132,382,860 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2010:Aimp1
|
UTSW |
3 |
132,373,253 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4424:Aimp1
|
UTSW |
3 |
132,373,253 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4583:Aimp1
|
UTSW |
3 |
132,382,808 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6135:Aimp1
|
UTSW |
3 |
132,377,844 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6285:Aimp1
|
UTSW |
3 |
132,373,265 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7270:Aimp1
|
UTSW |
3 |
132,382,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7662:Aimp1
|
UTSW |
3 |
132,379,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8782:Aimp1
|
UTSW |
3 |
132,373,242 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
X0057:Aimp1
|
UTSW |
3 |
132,382,873 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation