Incidental Mutation 'R2359:Anxa9'
| ID |
247057 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anxa9
|
| Ensembl Gene |
ENSMUSG00000015702 |
| Gene Name |
annexin A9 |
| Synonyms |
2310069F17Rik |
| MMRRC Submission |
040341-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2359 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95203407-95214487 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 95210062 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 99
(L99R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015846]
[ENSMUST00000107183]
[ENSMUST00000123365]
[ENSMUST00000164406]
|
| AlphaFold |
Q9JHQ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015846
AA Change: L99R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000015846
Gene: ENSMUSG00000015702
AA Change: L99R
| 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 |
noncoding transcript
Transcript: ENSMUST00000098867
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107183
AA Change: L99R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102801
Gene: ENSMUSG00000015702
AA Change: L99R
| 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 benign
Transcript: ENSMUST00000123365
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164406
AA Change: L99R
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127424
Gene: ENSMUSG00000015702
AA Change: L99R
| 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 |
noncoding transcript
Transcript: ENSMUST00000198947
|
| Meta Mutation Damage Score |
0.7778 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
95% (41/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
A |
G |
8: 41,133,984 (GRCm39) |
E484G |
possibly damaging |
Het |
| Akr1c20 |
C |
T |
13: 4,573,276 (GRCm39) |
G13D |
probably damaging |
Het |
| Alkbh3 |
T |
C |
2: 93,838,458 (GRCm39) |
T38A |
probably benign |
Het |
| Arfgef2 |
A |
T |
2: 166,702,539 (GRCm39) |
Y826F |
probably damaging |
Het |
| Arid2 |
G |
T |
15: 96,259,759 (GRCm39) |
L306F |
probably damaging |
Het |
| Ccdc141 |
C |
T |
2: 77,000,746 (GRCm39) |
V29M |
probably damaging |
Het |
| Cd55b |
A |
G |
1: 130,345,858 (GRCm39) |
S187P |
probably damaging |
Het |
| Cep63 |
A |
C |
9: 102,471,763 (GRCm39) |
L526V |
possibly damaging |
Het |
| Chtf8 |
G |
T |
8: 107,612,048 (GRCm39) |
|
probably null |
Het |
| Clca4b |
T |
A |
3: 144,631,003 (GRCm39) |
S286C |
probably damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,481,873 (GRCm39) |
V1080A |
probably benign |
Het |
| Csf2rb2 |
C |
T |
15: 78,176,976 (GRCm39) |
V165I |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,766,398 (GRCm39) |
V399E |
probably damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,951,599 (GRCm39) |
S659P |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,630,106 (GRCm39) |
S967P |
possibly damaging |
Het |
| Efr3b |
G |
A |
12: 4,030,136 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
A |
G |
4: 136,673,343 (GRCm39) |
I147T |
probably damaging |
Het |
| Fbxo48 |
G |
A |
11: 16,903,602 (GRCm39) |
W76* |
probably null |
Het |
| Ggt6 |
A |
T |
11: 72,328,377 (GRCm39) |
L254F |
possibly damaging |
Het |
| Gm4204 |
T |
A |
1: 135,159,927 (GRCm39) |
|
noncoding transcript |
Het |
| Golph3l |
A |
G |
3: 95,499,275 (GRCm39) |
|
probably null |
Het |
| Gtf2h3 |
A |
G |
5: 124,728,939 (GRCm39) |
K166R |
probably damaging |
Het |
| Hsp90aa1 |
A |
G |
12: 110,661,003 (GRCm39) |
|
probably null |
Het |
| Hyi |
A |
G |
4: 118,217,538 (GRCm39) |
R79G |
probably benign |
Het |
| Igbp1b |
G |
A |
6: 138,634,713 (GRCm39) |
P244S |
probably damaging |
Het |
| Ipo8 |
G |
A |
6: 148,717,975 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
C |
A |
13: 9,208,199 (GRCm39) |
T391K |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,256,057 (GRCm39) |
V1133A |
probably benign |
Het |
| Med13 |
C |
T |
11: 86,181,861 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,156,379 (GRCm39) |
|
probably benign |
Het |
| Neurl1b |
T |
C |
17: 26,660,569 (GRCm39) |
F299L |
probably benign |
Het |
| Nosip |
G |
A |
7: 44,723,450 (GRCm39) |
A39T |
possibly damaging |
Het |
| Nsd1 |
A |
G |
13: 55,361,524 (GRCm39) |
D164G |
possibly damaging |
Het |
| Ntn1 |
G |
A |
11: 68,276,438 (GRCm39) |
T170M |
probably damaging |
Het |
| Polrmt |
A |
T |
10: 79,572,396 (GRCm39) |
L1079Q |
probably damaging |
Het |
| Prxl2c |
A |
T |
13: 64,460,465 (GRCm39) |
C12S |
probably benign |
Het |
| Rab30 |
A |
G |
7: 92,485,005 (GRCm39) |
D129G |
possibly damaging |
Het |
| Rwdd2b |
C |
T |
16: 87,233,809 (GRCm39) |
S97N |
probably benign |
Het |
| Slitrk3 |
T |
G |
3: 72,956,678 (GRCm39) |
D698A |
possibly damaging |
Het |
| Smarcd2 |
T |
C |
11: 106,157,990 (GRCm39) |
M93V |
probably benign |
Het |
| Tmprss4 |
A |
G |
9: 45,097,130 (GRCm39) |
V45A |
probably benign |
Het |
| Vmn1r22 |
A |
T |
6: 57,877,974 (GRCm39) |
M1K |
probably null |
Het |
| Vps13a |
A |
G |
19: 16,630,043 (GRCm39) |
|
probably benign |
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 |
|
|
IGL01618:Anxa9
|
APN |
3 |
95,207,847 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCAGTCAACTAACTGTGC -3'
(R):5'- AGCACTGACATCCTGTGAGC -3'
Sequencing Primer
(F):5'- GCCAGTCAACTAACTGTGCTTCTTC -3'
(R):5'- GGCCTTCCTTGACCTATATC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation