Incidental Mutation 'R6081:Anxa5'
| ID |
482912 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anxa5
|
| Ensembl Gene |
ENSMUSG00000027712 |
| Gene Name |
annexin A5 |
| Synonyms |
annexin V, Anx5 |
| MMRRC Submission |
044240-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6081 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
36503072-36530036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 36519436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 18
(D18N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143650
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029266]
[ENSMUST00000199478]
|
| AlphaFold |
P48036 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029266
AA Change: D18N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029266
Gene: ENSMUSG00000027712
AA Change: D18N
| 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 damaging
Transcript: ENSMUST00000199478
AA Change: D18N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143650
Gene: ENSMUSG00000027712
AA Change: D18N
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
30 |
90 |
4.8e-5 |
SMART |
|
ANX
|
91 |
137 |
4.9e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,887,097 (GRCm39) |
M33K |
probably damaging |
Het |
| 4930556J24Rik |
T |
C |
11: 3,888,140 (GRCm39) |
Q82R |
unknown |
Het |
| Adcy9 |
T |
C |
16: 4,112,545 (GRCm39) |
D714G |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ahctf1 |
G |
T |
1: 179,609,237 (GRCm39) |
A639E |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Apc |
C |
T |
18: 34,423,164 (GRCm39) |
P299L |
possibly damaging |
Het |
| Btnl4 |
C |
A |
17: 34,693,210 (GRCm39) |
W68C |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,281,021 (GRCm39) |
|
probably benign |
Het |
| Cstf2t |
G |
T |
19: 31,060,523 (GRCm39) |
V20L |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,119,633 (GRCm39) |
V1703E |
probably damaging |
Het |
| Dhx32 |
A |
G |
7: 133,323,941 (GRCm39) |
F535S |
probably damaging |
Het |
| Diras2 |
T |
C |
13: 52,662,181 (GRCm39) |
D42G |
probably damaging |
Het |
| Dppa3 |
T |
A |
6: 122,606,931 (GRCm39) |
D140E |
probably damaging |
Het |
| Gpr180 |
C |
T |
14: 118,391,086 (GRCm39) |
T205I |
probably benign |
Het |
| Gzme |
T |
G |
14: 56,355,764 (GRCm39) |
T183P |
possibly damaging |
Het |
| H2-T23 |
T |
A |
17: 36,342,707 (GRCm39) |
I144F |
possibly damaging |
Het |
| Hlx |
T |
C |
1: 184,459,894 (GRCm39) |
S415G |
probably benign |
Het |
| Krtap5-3 |
G |
A |
7: 141,755,223 (GRCm39) |
C20Y |
unknown |
Het |
| Mcm8 |
G |
T |
2: 132,670,003 (GRCm39) |
R359L |
probably benign |
Het |
| Mroh2b |
G |
C |
15: 4,973,859 (GRCm39) |
E1126Q |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,398,560 (GRCm39) |
R674H |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Rnaset2b |
T |
A |
17: 7,256,193 (GRCm39) |
|
probably null |
Het |
| Samd12 |
T |
C |
15: 53,583,074 (GRCm39) |
K87E |
probably benign |
Het |
| Sec16b |
T |
C |
1: 157,388,324 (GRCm39) |
S564P |
probably benign |
Het |
| Speer4a1 |
A |
T |
5: 26,239,960 (GRCm39) |
C263* |
probably null |
Het |
| Susd1 |
C |
A |
4: 59,411,359 (GRCm39) |
C158F |
possibly damaging |
Het |
| Vmn2r6 |
C |
T |
3: 64,463,953 (GRCm39) |
V294M |
probably benign |
Het |
|
| Other mutations in Anxa5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00505:Anxa5
|
APN |
3 |
36,511,646 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCAGTTGGCCTCACACTG -3'
(R):5'- CTCCTTTCAGTGGGTCACAGATC -3'
Sequencing Primer
(F):5'- ACACTGTGTGCAGGCTG -3'
(R):5'- CAGTGGGTCACAGATCTTATCAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation