Incidental Mutation 'IGL03234:Anxa1'
| ID |
414014 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Anxa1
|
| Ensembl Gene |
ENSMUSG00000024659 |
| Gene Name |
annexin A1 |
| Synonyms |
Anx-1, Anx-A1, Lpc-1, Lpc1, C430014K04Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.300)
|
| Stock # |
IGL03234
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
20350798-20368035 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 20354965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025561]
|
| AlphaFold |
P10107 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025561
|
| SMART Domains |
Protein: ENSMUSP00000025561
Gene: ENSMUSG00000024659
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
59 |
111 |
4.45e-21 |
SMART |
|
ANX
|
131 |
183 |
3.9e-26 |
SMART |
|
ANX
|
215 |
267 |
4.86e-13 |
SMART |
|
ANX
|
290 |
342 |
2.26e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163902
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164587
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167668
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168020
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171423
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-localized protein that binds phospholipids. This protein inhibits phospholipase A2 and has anti-inflammatory activity. Loss of function or expression of this gene has been detected in multiple tumors. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mutations in this gene result in increased inflammatory response and decreased macrophage activity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox3 |
A |
G |
1: 58,191,845 (GRCm39) |
I466V |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,091,834 (GRCm39) |
K207E |
probably benign |
Het |
| Armh4 |
T |
C |
14: 50,005,973 (GRCm39) |
E574G |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,225,987 (GRCm39) |
F312L |
probably damaging |
Het |
| Cwf19l1 |
A |
G |
19: 44,115,809 (GRCm39) |
Y207H |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,076,087 (GRCm39) |
D673G |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,753,610 (GRCm39) |
S670P |
probably damaging |
Het |
| Mdn1 |
C |
T |
4: 32,732,842 (GRCm39) |
P3081S |
probably benign |
Het |
| Mtrex |
T |
C |
13: 113,017,509 (GRCm39) |
|
probably benign |
Het |
| N4bp2l2 |
G |
A |
5: 150,574,191 (GRCm39) |
Q75* |
probably null |
Het |
| Naip5 |
A |
T |
13: 100,349,135 (GRCm39) |
S1398T |
probably damaging |
Het |
| Nav2 |
T |
C |
7: 49,111,756 (GRCm39) |
V754A |
possibly damaging |
Het |
| Nox4 |
T |
C |
7: 86,966,521 (GRCm39) |
|
probably null |
Het |
| Pramel25 |
A |
G |
4: 143,521,506 (GRCm39) |
E374G |
probably benign |
Het |
| Prox1 |
T |
C |
1: 189,893,833 (GRCm39) |
Y204C |
probably damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,916,717 (GRCm39) |
S114G |
probably benign |
Het |
| Sprtn |
G |
A |
8: 125,629,888 (GRCm39) |
V394M |
possibly damaging |
Het |
| Tars3 |
T |
A |
7: 65,302,026 (GRCm39) |
H183Q |
probably benign |
Het |
| Thsd7a |
A |
G |
6: 12,343,177 (GRCm39) |
C1147R |
probably damaging |
Het |
| Uba7 |
G |
A |
9: 107,853,599 (GRCm39) |
R143Q |
probably damaging |
Het |
| Zp1 |
A |
G |
19: 10,892,187 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Anxa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00592:Anxa1
|
APN |
19 |
20,355,033 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0058:Anxa1
|
UTSW |
19 |
20,361,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0058:Anxa1
|
UTSW |
19 |
20,361,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1446:Anxa1
|
UTSW |
19 |
20,351,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1864:Anxa1
|
UTSW |
19 |
20,357,053 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2213:Anxa1
|
UTSW |
19 |
20,360,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4787:Anxa1
|
UTSW |
19 |
20,351,118 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5013:Anxa1
|
UTSW |
19 |
20,360,287 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5453:Anxa1
|
UTSW |
19 |
20,357,703 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5468:Anxa1
|
UTSW |
19 |
20,355,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5918:Anxa1
|
UTSW |
19 |
20,355,857 (GRCm39) |
splice site |
probably benign |
|
|
R6059:Anxa1
|
UTSW |
19 |
20,355,064 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6379:Anxa1
|
UTSW |
19 |
20,351,079 (GRCm39) |
makesense |
probably null |
|
|
R6394:Anxa1
|
UTSW |
19 |
20,361,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7049:Anxa1
|
UTSW |
19 |
20,352,635 (GRCm39) |
missense |
probably benign |
|
|
R8280:Anxa1
|
UTSW |
19 |
20,352,650 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8950:Anxa1
|
UTSW |
19 |
20,352,662 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation