Incidental Mutation 'IGL00505:Anxa5'
| ID |
6912 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Anxa5
|
| Ensembl Gene |
ENSMUSG00000027712 |
| Gene Name |
annexin A5 |
| Synonyms |
annexin V, Anx5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00505
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
36503072-36530036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36511646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 144
(S144P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029266
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029266]
[ENSMUST00000199478]
|
| AlphaFold |
P48036 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029266
AA Change: S144P
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029266
Gene: ENSMUSG00000027712
AA Change: S144P
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
30 |
82 |
1.65e-24 |
SMART |
|
ANX
|
102 |
154 |
4.52e-22 |
SMART |
|
ANX
|
186 |
238 |
3.54e-15 |
SMART |
|
ANX
|
261 |
313 |
4.52e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199478
|
| SMART Domains |
Protein: ENSMUSP00000143650
Gene: ENSMUSG00000027712
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
30 |
90 |
4.8e-5 |
SMART |
|
ANX
|
91 |
137 |
4.9e-9 |
SMART |
|
| 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 belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. The gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable, fertile, and develop normally. Bone development and maintenance are normal, as are clinical-chemical parameters. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,968,459 (GRCm39) |
|
probably null |
Het |
| Akap6 |
A |
G |
12: 52,933,885 (GRCm39) |
H459R |
possibly damaging |
Het |
| Cacna1h |
T |
G |
17: 25,600,482 (GRCm39) |
T1620P |
probably damaging |
Het |
| Cdc27 |
T |
G |
11: 104,412,258 (GRCm39) |
T444P |
probably benign |
Het |
| Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,306,886 (GRCm39) |
R868G |
possibly damaging |
Het |
| Cyp2j5 |
A |
T |
4: 96,519,012 (GRCm39) |
N421K |
probably damaging |
Het |
| Dhcr7 |
T |
C |
7: 143,400,805 (GRCm39) |
Y323H |
probably damaging |
Het |
| Dnai4 |
G |
T |
4: 102,960,439 (GRCm39) |
S70R |
possibly damaging |
Het |
| Gabrq |
T |
C |
X: 71,881,971 (GRCm39) |
S601P |
probably damaging |
Het |
| Gm3404 |
T |
A |
5: 146,465,095 (GRCm39) |
D278E |
probably damaging |
Het |
| Gpr61 |
A |
G |
3: 108,058,514 (GRCm39) |
M49T |
probably damaging |
Het |
| Map3k20 |
T |
C |
2: 72,219,827 (GRCm39) |
F253S |
probably damaging |
Het |
| Ndst3 |
G |
A |
3: 123,421,599 (GRCm39) |
|
probably benign |
Het |
| Rcor3 |
C |
T |
1: 191,812,271 (GRCm39) |
|
probably benign |
Het |
| Slc15a2 |
C |
A |
16: 36,574,137 (GRCm39) |
C572F |
probably benign |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Spaca1 |
A |
G |
4: 34,029,077 (GRCm39) |
I132T |
probably damaging |
Het |
| Spag6 |
C |
A |
2: 18,738,995 (GRCm39) |
N308K |
probably benign |
Het |
| Stac |
C |
T |
9: 111,464,107 (GRCm39) |
R53Q |
probably damaging |
Het |
| Tekt3 |
A |
G |
11: 62,961,064 (GRCm39) |
S78G |
probably benign |
Het |
| Vdac3 |
C |
T |
8: 23,070,393 (GRCm39) |
G172S |
possibly damaging |
Het |
| Wdr87-ps |
A |
C |
7: 29,233,608 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Anxa5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02125:Anxa5
|
APN |
3 |
36,506,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02686:Anxa5
|
APN |
3 |
36,503,504 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03268:Anxa5
|
APN |
3 |
36,504,828 (GRCm39) |
missense |
probably benign |
|
|
R0131:Anxa5
|
UTSW |
3 |
36,504,821 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0131:Anxa5
|
UTSW |
3 |
36,504,821 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0132:Anxa5
|
UTSW |
3 |
36,504,821 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0365:Anxa5
|
UTSW |
3 |
36,511,618 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0376:Anxa5
|
UTSW |
3 |
36,514,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1393:Anxa5
|
UTSW |
3 |
36,507,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1424:Anxa5
|
UTSW |
3 |
36,506,441 (GRCm39) |
splice site |
probably null |
|
|
R1626:Anxa5
|
UTSW |
3 |
36,516,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1778:Anxa5
|
UTSW |
3 |
36,519,480 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1873:Anxa5
|
UTSW |
3 |
36,503,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3861:Anxa5
|
UTSW |
3 |
36,504,807 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4076:Anxa5
|
UTSW |
3 |
36,504,529 (GRCm39) |
missense |
probably benign |
|
|
R5871:Anxa5
|
UTSW |
3 |
36,506,398 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6018:Anxa5
|
UTSW |
3 |
36,504,807 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6056:Anxa5
|
UTSW |
3 |
36,504,840 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6081:Anxa5
|
UTSW |
3 |
36,519,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6522:Anxa5
|
UTSW |
3 |
36,519,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Anxa5
|
UTSW |
3 |
36,519,480 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2012-04-20 |
Incidental Mutation