Incidental Mutation 'IGL01618:Anxa9'
| ID |
92458 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Anxa9
|
| Ensembl Gene |
ENSMUSG00000015702 |
| Gene Name |
annexin A9 |
| Synonyms |
2310069F17Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01618
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
95203407-95214487 bp(-) (GRCm39) |
| Type of Mutation |
splice site (4373 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 95207847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015846]
[ENSMUST00000039537]
[ENSMUST00000107183]
[ENSMUST00000107187]
[ENSMUST00000164406]
[ENSMUST00000168223]
|
| AlphaFold |
Q9JHQ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000015846
AA Change: I231T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000015846
Gene: ENSMUSG00000015702
AA Change: I231T
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
58 |
110 |
1.48e-17 |
SMART |
|
ANX
|
130 |
182 |
6.56e-10 |
SMART |
|
ANX
|
212 |
264 |
1.52e-1 |
SMART |
|
ANX
|
287 |
339 |
1.03e-11 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000039537
|
| SMART Domains |
Protein: ENSMUSP00000043910
Gene: ENSMUSG00000038712
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
86 |
N/A |
INTRINSIC |
|
Pfam:DUF544
|
143 |
268 |
7.7e-51 |
PFAM |
|
low complexity region
|
369 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
423 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107183
AA Change: I231T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000102801
Gene: ENSMUSG00000015702
AA Change: I231T
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
58 |
110 |
1.48e-17 |
SMART |
|
ANX
|
130 |
182 |
6.56e-10 |
SMART |
|
ANX
|
212 |
264 |
1.52e-1 |
SMART |
|
ANX
|
287 |
339 |
1.03e-11 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000107187
|
| SMART Domains |
Protein: ENSMUSP00000102805
Gene: ENSMUSG00000038712
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
86 |
N/A |
INTRINSIC |
|
Pfam:DUF544
|
143 |
266 |
7e-42 |
PFAM |
|
low complexity region
|
369 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
432 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133762
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164406
AA Change: I231T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000127424
Gene: ENSMUSG00000015702
AA Change: I231T
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
58 |
110 |
1.48e-17 |
SMART |
|
ANX
|
130 |
182 |
6.56e-10 |
SMART |
|
ANX
|
212 |
264 |
1.52e-1 |
SMART |
|
ANX
|
287 |
339 |
1.03e-11 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000168223
|
| SMART Domains |
Protein: ENSMUSP00000127839
Gene: ENSMUSG00000038712
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
86 |
N/A |
INTRINSIC |
|
Pfam:DUF544
|
143 |
268 |
7.7e-51 |
PFAM |
|
low complexity region
|
369 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
423 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The annexins are a family of calcium-dependent phospholipid-binding proteins. Members of the annexin family contain 4 internal repeat domains, each of which includes a type II calcium-binding site. The calcium-binding sites are required for annexins to aggregate and cooperatively bind anionic phospholipids and extracellular matrix proteins. This gene encodes a divergent member of the annexin protein family in which all four homologous type II calcium-binding sites in the conserved tetrad core contain amino acid substitutions that ablate their function. However, structural analysis suggests that the conserved putative ion channel formed by the tetrad core is intact. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl5 |
C |
T |
19: 55,261,265 (GRCm39) |
A74V |
probably benign |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Aldh1a3 |
G |
A |
7: 66,058,978 (GRCm39) |
T239I |
probably damaging |
Het |
| Atp5me |
C |
A |
5: 108,581,899 (GRCm39) |
K28N |
probably damaging |
Het |
| C9 |
T |
G |
15: 6,489,149 (GRCm39) |
Y169D |
probably benign |
Het |
| Chat |
T |
A |
14: 32,168,849 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
C |
T |
15: 47,874,479 (GRCm39) |
E706K |
probably benign |
Het |
| Ctbs |
A |
G |
3: 146,160,867 (GRCm39) |
K145E |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,533,302 (GRCm39) |
M156T |
probably damaging |
Het |
| Dhx29 |
A |
G |
13: 113,101,756 (GRCm39) |
Y1275C |
probably damaging |
Het |
| Dpp10 |
A |
T |
1: 123,295,596 (GRCm39) |
F517Y |
probably benign |
Het |
| Dst |
G |
A |
1: 34,227,990 (GRCm39) |
W1536* |
probably null |
Het |
| Galc |
T |
C |
12: 98,218,340 (GRCm39) |
T171A |
possibly damaging |
Het |
| Gsap |
T |
C |
5: 21,431,246 (GRCm39) |
I190T |
probably damaging |
Het |
| Hars2 |
A |
T |
18: 36,922,630 (GRCm39) |
R388* |
probably null |
Het |
| Igsf21 |
C |
T |
4: 139,834,675 (GRCm39) |
G66S |
possibly damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,065,211 (GRCm39) |
S122T |
possibly damaging |
Het |
| Jhy |
G |
T |
9: 40,872,260 (GRCm39) |
T83K |
possibly damaging |
Het |
| Kcne4 |
A |
T |
1: 78,795,525 (GRCm39) |
M58L |
possibly damaging |
Het |
| Lamc3 |
T |
A |
2: 31,802,119 (GRCm39) |
I509N |
probably damaging |
Het |
| Lpar6 |
T |
C |
14: 73,476,506 (GRCm39) |
S156P |
probably damaging |
Het |
| Man2c1 |
T |
C |
9: 57,048,840 (GRCm39) |
|
probably benign |
Het |
| Marchf11 |
T |
C |
15: 26,409,285 (GRCm39) |
I328T |
possibly damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,290 (GRCm39) |
C171S |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,577,001 (GRCm39) |
Q2167L |
unknown |
Het |
| Myom1 |
T |
C |
17: 71,406,988 (GRCm39) |
V1135A |
possibly damaging |
Het |
| Nectin1 |
C |
T |
9: 43,702,555 (GRCm39) |
R101* |
probably null |
Het |
| Nxpe4 |
T |
C |
9: 48,305,440 (GRCm39) |
S277P |
possibly damaging |
Het |
| Or1e35 |
T |
C |
11: 73,798,303 (GRCm39) |
N5S |
probably damaging |
Het |
| Or2a52 |
T |
A |
6: 43,144,637 (GRCm39) |
V215E |
probably damaging |
Het |
| Or52r1c |
G |
A |
7: 102,735,582 (GRCm39) |
V281I |
probably benign |
Het |
| Or5b106 |
T |
A |
19: 13,123,614 (GRCm39) |
K136N |
probably benign |
Het |
| Or5w19 |
A |
C |
2: 87,698,488 (GRCm39) |
D51A |
probably damaging |
Het |
| Pappa2 |
G |
T |
1: 158,684,948 (GRCm39) |
N730K |
probably damaging |
Het |
| Prepl |
A |
G |
17: 85,373,709 (GRCm39) |
V586A |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,368,529 (GRCm39) |
Y2098C |
probably damaging |
Het |
| Rdh16 |
G |
A |
10: 127,637,176 (GRCm39) |
C37Y |
probably damaging |
Het |
| Rnd1 |
A |
T |
15: 98,571,746 (GRCm39) |
M100K |
probably benign |
Het |
| Sema3c |
A |
G |
5: 17,877,504 (GRCm39) |
N204D |
probably damaging |
Het |
| Susd4 |
A |
G |
1: 182,686,026 (GRCm39) |
|
probably null |
Het |
| Taar7f |
G |
T |
10: 23,926,239 (GRCm39) |
A278S |
possibly damaging |
Het |
| Tle4 |
T |
A |
19: 14,522,178 (GRCm39) |
M122L |
probably benign |
Het |
| Trim9 |
C |
T |
12: 70,295,125 (GRCm39) |
V662I |
probably benign |
Het |
| Vmn2r10 |
C |
A |
5: 109,150,345 (GRCm39) |
C233F |
probably damaging |
Het |
| Vmn2r98 |
A |
C |
17: 19,285,521 (GRCm39) |
T114P |
possibly damaging |
Het |
| Zfyve21 |
C |
T |
12: 111,794,247 (GRCm39) |
|
probably benign |
Het |
| Zng1 |
T |
C |
19: 24,918,140 (GRCm39) |
E210G |
possibly damaging |
Het |
|
| Other mutations in Anxa9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01567:Anxa9
|
APN |
3 |
95,209,743 (GRCm39) |
splice site |
probably benign |
|
|
IGL02272:Anxa9
|
APN |
3 |
95,213,205 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0012:Anxa9
|
UTSW |
3 |
95,215,406 (GRCm39) |
unclassified |
probably benign |
|
|
R0128:Anxa9
|
UTSW |
3 |
95,209,733 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0130:Anxa9
|
UTSW |
3 |
95,209,733 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0356:Anxa9
|
UTSW |
3 |
95,215,387 (GRCm39) |
unclassified |
probably benign |
|
|
R1656:Anxa9
|
UTSW |
3 |
95,207,884 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1967:Anxa9
|
UTSW |
3 |
95,207,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2180:Anxa9
|
UTSW |
3 |
95,213,735 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2359:Anxa9
|
UTSW |
3 |
95,210,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3155:Anxa9
|
UTSW |
3 |
95,209,716 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3156:Anxa9
|
UTSW |
3 |
95,209,716 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3767:Anxa9
|
UTSW |
3 |
95,208,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4693:Anxa9
|
UTSW |
3 |
95,204,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4974:Anxa9
|
UTSW |
3 |
95,215,324 (GRCm39) |
unclassified |
probably benign |
|
|
R5435:Anxa9
|
UTSW |
3 |
95,204,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6342:Anxa9
|
UTSW |
3 |
95,204,101 (GRCm39) |
makesense |
probably null |
|
|
R7272:Anxa9
|
UTSW |
3 |
95,213,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8210:Anxa9
|
UTSW |
3 |
95,213,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8673:Anxa9
|
UTSW |
3 |
95,207,657 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8728:Anxa9
|
UTSW |
3 |
95,209,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9342:Anxa9
|
UTSW |
3 |
95,210,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9542:Anxa9
|
UTSW |
3 |
95,210,379 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-12-09 |
Incidental Mutation