Incidental Mutation 'R5453:Anxa1'
| ID |
432647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anxa1
|
| Ensembl Gene |
ENSMUSG00000024659 |
| Gene Name |
annexin A1 |
| Synonyms |
Anx-1, Anx-A1, Lpc-1, Lpc1, C430014K04Rik |
| MMRRC Submission |
043017-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
R5453 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
20350798-20368035 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 20357703 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 null
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
G |
A |
11: 110,210,622 (GRCm39) |
Q186* |
probably null |
Het |
| Adamts20 |
T |
C |
15: 94,223,969 (GRCm39) |
E1253G |
possibly damaging |
Het |
| Adgrd1 |
T |
C |
5: 129,256,647 (GRCm39) |
F640S |
probably damaging |
Het |
| Babam2 |
A |
G |
5: 32,164,590 (GRCm39) |
E288G |
probably damaging |
Het |
| Cd163 |
C |
T |
6: 124,289,500 (GRCm39) |
A406V |
probably damaging |
Het |
| Cdh13 |
A |
T |
8: 119,925,706 (GRCm39) |
D358V |
probably damaging |
Het |
| Cdk10 |
A |
G |
8: 123,953,131 (GRCm39) |
I45V |
probably benign |
Het |
| Crybg2 |
A |
T |
4: 133,806,147 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,359,330 (GRCm39) |
D3555G |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,599,099 (GRCm39) |
D1818G |
probably benign |
Het |
| Emsy |
T |
C |
7: 98,250,013 (GRCm39) |
K758R |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,908,160 (GRCm39) |
V2614A |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,003,972 (GRCm39) |
I190T |
possibly damaging |
Het |
| Hoxb3 |
T |
C |
11: 96,235,480 (GRCm39) |
S136P |
probably damaging |
Het |
| Hras |
A |
C |
7: 140,772,768 (GRCm39) |
V29G |
probably damaging |
Het |
| Hycc1 |
A |
G |
5: 24,192,877 (GRCm39) |
|
probably null |
Het |
| Igll1 |
A |
G |
16: 16,681,558 (GRCm39) |
|
probably null |
Het |
| Insr |
G |
A |
8: 3,205,694 (GRCm39) |
T1365I |
probably benign |
Het |
| Kitl |
T |
A |
10: 99,923,247 (GRCm39) |
W187R |
probably damaging |
Het |
| Klb |
T |
A |
5: 65,540,728 (GRCm39) |
F940L |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 41,172,249 (GRCm39) |
R725K |
probably damaging |
Het |
| Map4 |
C |
T |
9: 109,866,851 (GRCm39) |
|
probably benign |
Het |
| Mrps35 |
A |
G |
6: 146,972,115 (GRCm39) |
S253G |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,438,837 (GRCm39) |
E2015K |
probably damaging |
Het |
| Nyap2 |
A |
C |
1: 81,169,857 (GRCm39) |
I205L |
probably benign |
Het |
| Or12d13 |
T |
C |
17: 37,647,953 (GRCm39) |
M57V |
possibly damaging |
Het |
| Or6k14 |
A |
G |
1: 173,927,033 (GRCm39) |
K3R |
probably benign |
Het |
| Rab11fip3 |
C |
T |
17: 26,211,555 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
A |
G |
5: 66,184,525 (GRCm39) |
V26A |
probably benign |
Het |
| Ripk2 |
A |
T |
4: 16,151,989 (GRCm39) |
I190N |
probably damaging |
Het |
| Spmip4 |
A |
G |
6: 50,572,776 (GRCm39) |
|
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Ttc17 |
A |
T |
2: 94,133,905 (GRCm39) |
N1150K |
probably damaging |
Het |
| Zfp108 |
G |
T |
7: 23,960,689 (GRCm39) |
G427W |
probably damaging |
Het |
| Zfp84 |
A |
G |
7: 29,475,722 (GRCm39) |
E138G |
possibly damaging |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGGCGTTACTATACAGTAAG -3'
(R):5'- TGTAACTGATACTCTGGGACAAATG -3'
Sequencing Primer
(F):5'- GGCGTTACTATACAGTAAGAGAAATG -3'
(R):5'- CTGATACTCTGGGACAAATGTTTAAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation