Incidental Mutation 'IGL00592:Anxa1'
| ID |
8976 |
| 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 # |
IGL00592
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
20350798-20368035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20355033 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 247
(D247G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025561]
|
| AlphaFold |
P10107 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025561
AA Change: D247G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000025561
Gene: ENSMUSG00000024659
AA Change: D247G
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
A |
G |
3: 138,126,397 (GRCm39) |
I91V |
probably damaging |
Het |
| Ak6 |
T |
C |
13: 100,800,599 (GRCm39) |
V74A |
probably benign |
Het |
| Antxr1 |
C |
A |
6: 87,265,784 (GRCm39) |
V110F |
probably damaging |
Het |
| Dgkg |
T |
C |
16: 22,298,112 (GRCm39) |
|
probably benign |
Het |
| Eva1b |
T |
C |
4: 126,043,443 (GRCm39) |
M161T |
probably benign |
Het |
| Fbxw22 |
C |
A |
9: 109,213,108 (GRCm39) |
V280F |
possibly damaging |
Het |
| Klhl9 |
A |
G |
4: 88,639,378 (GRCm39) |
S288P |
probably damaging |
Het |
| Masp2 |
C |
T |
4: 148,687,186 (GRCm39) |
P23S |
probably benign |
Het |
| Ncam1 |
T |
A |
9: 49,434,865 (GRCm39) |
D600V |
probably damaging |
Het |
| Pcnx4 |
A |
G |
12: 72,626,139 (GRCm39) |
N1115S |
probably damaging |
Het |
| Pdia2 |
A |
G |
17: 26,417,090 (GRCm39) |
V109A |
probably damaging |
Het |
| Pla1a |
G |
T |
16: 38,235,212 (GRCm39) |
H161N |
probably damaging |
Het |
| Prokr2 |
A |
T |
2: 132,223,424 (GRCm39) |
D39E |
probably benign |
Het |
| Sall4 |
T |
C |
2: 168,597,883 (GRCm39) |
D319G |
probably damaging |
Het |
| Sgms2 |
A |
G |
3: 131,135,482 (GRCm39) |
S131P |
possibly damaging |
Het |
| Slc22a2 |
A |
T |
17: 12,827,305 (GRCm39) |
Q319L |
possibly damaging |
Het |
| Slc27a5 |
A |
G |
7: 12,722,566 (GRCm39) |
I636T |
probably benign |
Het |
| Tas2r131 |
T |
G |
6: 132,934,159 (GRCm39) |
T217P |
probably damaging |
Het |
| Trh |
T |
C |
6: 92,219,723 (GRCm39) |
M198V |
possibly damaging |
Het |
| Ube2b |
A |
C |
11: 51,877,546 (GRCm39) |
V141G |
probably damaging |
Het |
| Ube2l6 |
T |
A |
2: 84,639,373 (GRCm39) |
V112E |
probably damaging |
Het |
| Vmn1r79 |
T |
C |
7: 11,910,934 (GRCm39) |
I272T |
probably benign |
Het |
| Xylb |
C |
T |
9: 119,219,549 (GRCm39) |
Q513* |
probably null |
Het |
| Zbtb4 |
T |
A |
11: 69,667,557 (GRCm39) |
C287* |
probably null |
Het |
|
| Other mutations in Anxa1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03234:Anxa1
|
APN |
19 |
20,354,965 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2012-12-06 |
Incidental Mutation