Incidental Mutation 'IGL01984:Anxa3'
ID |
181845 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Anxa3
|
Ensembl Gene |
ENSMUSG00000029484 |
Gene Name |
annexin A3 |
Synonyms |
Anx3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01984
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
96941244-96993827 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 96982630 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031447
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031447]
|
AlphaFold |
O35639 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031447
|
SMART Domains |
Protein: ENSMUSP00000031447 Gene: ENSMUSG00000029484
Domain | Start | End | E-Value | Type |
ANX
|
35 |
87 |
5.74e-24 |
SMART |
ANX
|
107 |
159 |
1.67e-25 |
SMART |
ANX
|
191 |
243 |
3.67e-22 |
SMART |
ANX
|
266 |
318 |
2.87e-24 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197196
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197339
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199390
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199656
|
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 member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions in the inhibition of phopholipase A2 and cleavage of inositol 1,2-cyclic phosphate to form inositol 1-phosphate. This protein may also play a role in anti-coagulation. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
All alleles(1) : Gene trapped(1) |
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
C |
T |
3: 89,970,537 (GRCm39) |
L24F |
probably benign |
Het |
Adamts16 |
T |
C |
13: 70,935,266 (GRCm39) |
D442G |
probably damaging |
Het |
Ankmy1 |
T |
C |
1: 92,811,487 (GRCm39) |
T634A |
probably damaging |
Het |
Ccnh |
T |
C |
13: 85,354,270 (GRCm39) |
L202P |
probably damaging |
Het |
Clcn3 |
A |
T |
8: 61,382,614 (GRCm39) |
S325T |
probably damaging |
Het |
Clec2d |
A |
T |
6: 129,161,192 (GRCm39) |
E96D |
possibly damaging |
Het |
Csn1s1 |
A |
T |
5: 87,824,369 (GRCm39) |
|
probably benign |
Het |
Dcun1d5 |
T |
A |
9: 7,205,307 (GRCm39) |
Y189N |
possibly damaging |
Het |
Dnah7a |
T |
C |
1: 53,741,174 (GRCm39) |
|
probably null |
Het |
Dpcd |
C |
T |
19: 45,565,469 (GRCm39) |
H148Y |
probably benign |
Het |
Efcab3 |
T |
A |
11: 104,629,134 (GRCm39) |
D937E |
probably benign |
Het |
Erg |
T |
G |
16: 95,210,786 (GRCm39) |
D15A |
probably damaging |
Het |
Gm21759 |
T |
A |
5: 8,230,547 (GRCm39) |
|
probably benign |
Het |
Heatr5b |
C |
T |
17: 79,103,926 (GRCm39) |
R1083Q |
possibly damaging |
Het |
Ints3 |
A |
G |
3: 90,299,533 (GRCm39) |
S1012P |
possibly damaging |
Het |
Klhl3 |
C |
T |
13: 58,159,057 (GRCm39) |
|
probably benign |
Het |
Lama4 |
T |
A |
10: 38,951,525 (GRCm39) |
|
probably null |
Het |
Magi1 |
A |
T |
6: 93,685,155 (GRCm39) |
V740D |
probably damaging |
Het |
Nme8 |
C |
A |
13: 19,873,150 (GRCm39) |
V165L |
probably damaging |
Het |
Odf2l |
G |
T |
3: 144,845,590 (GRCm39) |
E5* |
probably null |
Het |
Or14j4 |
T |
C |
17: 37,934,552 (GRCm39) |
|
probably benign |
Het |
Or4k47 |
A |
G |
2: 111,451,927 (GRCm39) |
L164S |
probably benign |
Het |
Or56a5 |
A |
T |
7: 104,792,923 (GRCm39) |
D192E |
probably benign |
Het |
Pcnx4 |
T |
C |
12: 72,621,183 (GRCm39) |
V1001A |
probably benign |
Het |
Plaa |
A |
G |
4: 94,459,922 (GRCm39) |
|
probably null |
Het |
Prkdc |
G |
A |
16: 15,526,643 (GRCm39) |
A1305T |
probably benign |
Het |
Rnps1 |
T |
C |
17: 24,643,371 (GRCm39) |
|
probably benign |
Het |
St8sia5 |
T |
C |
18: 77,336,157 (GRCm39) |
F197L |
probably benign |
Het |
Sult3a1 |
G |
T |
10: 33,755,205 (GRCm39) |
G257* |
probably null |
Het |
Svep1 |
A |
C |
4: 58,068,877 (GRCm39) |
Y2970D |
possibly damaging |
Het |
Tns3 |
G |
T |
11: 8,498,992 (GRCm39) |
Y30* |
probably null |
Het |
Ubr1 |
G |
T |
2: 120,751,867 (GRCm39) |
P791T |
probably damaging |
Het |
Zfp592 |
T |
C |
7: 80,688,392 (GRCm39) |
V1039A |
probably benign |
Het |
|
Other mutations in Anxa3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03243:Anxa3
|
APN |
5 |
96,976,551 (GRCm39) |
unclassified |
probably benign |
|
F6893:Anxa3
|
UTSW |
5 |
96,972,853 (GRCm39) |
unclassified |
probably benign |
|
R0026:Anxa3
|
UTSW |
5 |
96,986,260 (GRCm39) |
missense |
probably benign |
0.01 |
R0468:Anxa3
|
UTSW |
5 |
96,958,958 (GRCm39) |
missense |
probably benign |
0.00 |
R0562:Anxa3
|
UTSW |
5 |
96,960,743 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0724:Anxa3
|
UTSW |
5 |
96,976,607 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1442:Anxa3
|
UTSW |
5 |
96,976,549 (GRCm39) |
splice site |
probably null |
|
R2276:Anxa3
|
UTSW |
5 |
96,978,349 (GRCm39) |
critical splice donor site |
probably null |
|
R4922:Anxa3
|
UTSW |
5 |
96,968,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R5108:Anxa3
|
UTSW |
5 |
96,978,273 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5230:Anxa3
|
UTSW |
5 |
96,986,171 (GRCm39) |
missense |
possibly damaging |
0.47 |
R5529:Anxa3
|
UTSW |
5 |
96,976,238 (GRCm39) |
missense |
probably benign |
0.00 |
R5733:Anxa3
|
UTSW |
5 |
96,968,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R5857:Anxa3
|
UTSW |
5 |
96,976,651 (GRCm39) |
critical splice donor site |
probably null |
|
R5902:Anxa3
|
UTSW |
5 |
96,960,712 (GRCm39) |
nonsense |
probably null |
|
R6558:Anxa3
|
UTSW |
5 |
96,960,798 (GRCm39) |
splice site |
probably null |
|
R6772:Anxa3
|
UTSW |
5 |
96,958,972 (GRCm39) |
missense |
probably damaging |
0.98 |
R7425:Anxa3
|
UTSW |
5 |
96,982,680 (GRCm39) |
missense |
probably benign |
0.30 |
R7515:Anxa3
|
UTSW |
5 |
96,986,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R7619:Anxa3
|
UTSW |
5 |
96,978,263 (GRCm39) |
missense |
probably damaging |
1.00 |
R8018:Anxa3
|
UTSW |
5 |
96,968,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R8197:Anxa3
|
UTSW |
5 |
96,982,651 (GRCm39) |
missense |
probably benign |
0.05 |
R8405:Anxa3
|
UTSW |
5 |
96,978,295 (GRCm39) |
missense |
probably benign |
0.00 |
R8723:Anxa3
|
UTSW |
5 |
96,986,206 (GRCm39) |
missense |
probably benign |
0.05 |
R9046:Anxa3
|
UTSW |
5 |
96,976,626 (GRCm39) |
missense |
probably damaging |
0.99 |
R9119:Anxa3
|
UTSW |
5 |
96,976,557 (GRCm39) |
missense |
|
|
|
Posted On |
2014-05-07 |