Incidental Mutation 'R6772:Anxa3'
| ID |
532203 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anxa3
|
| Ensembl Gene |
ENSMUSG00000029484 |
| Gene Name |
annexin A3 |
| Synonyms |
Anx3 |
| MMRRC Submission |
044888-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6772 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
96941244-96993827 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96958972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 27
(I27F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031447]
[ENSMUST00000198631]
[ENSMUST00000199330]
[ENSMUST00000200379]
|
| AlphaFold |
O35639 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031447
AA Change: I27F
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031447
Gene: ENSMUSG00000029484
AA Change: I27F
| 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 |
possibly damaging
Transcript: ENSMUST00000198631
AA Change: I27F
PolyPhen 2
Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143491
Gene: ENSMUSG00000029484
AA Change: I27F
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
35 |
87 |
5.74e-24 |
SMART |
|
ANX
|
107 |
159 |
1.67e-25 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199330
AA Change: I27F
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143615
Gene: ENSMUSG00000029484
AA Change: I27F
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
35 |
84 |
1.5e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200379
|
| SMART Domains |
Protein: ENSMUSP00000142527
Gene: ENSMUSG00000029484
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
24 |
76 |
7.2e-28 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
97% (36/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,126,276 (GRCm39) |
D1144V |
probably damaging |
Het |
| Ankrd13a |
A |
G |
5: 114,939,804 (GRCm39) |
H477R |
probably benign |
Het |
| Aplf |
T |
C |
6: 87,640,781 (GRCm39) |
E76G |
possibly damaging |
Het |
| Bbs1 |
A |
G |
19: 4,956,618 (GRCm39) |
|
probably benign |
Het |
| Camk2a |
T |
C |
18: 61,102,092 (GRCm39) |
S332P |
probably benign |
Het |
| Casz1 |
T |
A |
4: 149,027,663 (GRCm39) |
F1013L |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,588,092 (GRCm39) |
I707F |
possibly damaging |
Het |
| Cd4 |
G |
A |
6: 124,849,421 (GRCm39) |
T202I |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,914,983 (GRCm39) |
S997P |
probably benign |
Het |
| Cfap77 |
T |
C |
2: 28,944,951 (GRCm39) |
T24A |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,621,609 (GRCm39) |
R1019H |
probably damaging |
Het |
| Epb41l4b |
C |
A |
4: 57,063,140 (GRCm39) |
V517F |
probably benign |
Het |
| Exosc10 |
G |
A |
4: 148,665,591 (GRCm39) |
D818N |
probably damaging |
Het |
| Furin |
C |
T |
7: 80,043,240 (GRCm39) |
G324S |
probably damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ifi206 |
T |
C |
1: 173,308,773 (GRCm39) |
M408V |
unknown |
Het |
| Kdm4a |
T |
C |
4: 117,999,752 (GRCm39) |
|
probably null |
Het |
| Neo1 |
T |
A |
9: 58,810,259 (GRCm39) |
Q1064L |
probably damaging |
Het |
| Nphp4 |
G |
A |
4: 152,628,863 (GRCm39) |
V750I |
probably benign |
Het |
| Pcdhac1 |
T |
C |
18: 37,223,289 (GRCm39) |
V34A |
probably benign |
Het |
| Pdk4 |
T |
C |
6: 5,487,141 (GRCm39) |
I302V |
probably benign |
Het |
| Prl6a1 |
A |
G |
13: 27,503,031 (GRCm39) |
D209G |
probably damaging |
Het |
| Pspn |
T |
C |
17: 57,306,515 (GRCm39) |
Q138R |
probably benign |
Het |
| Ptgs2 |
A |
G |
1: 149,977,829 (GRCm39) |
Y134C |
probably damaging |
Het |
| Rlbp1 |
G |
A |
7: 79,033,798 (GRCm39) |
|
probably benign |
Het |
| Rpia |
T |
C |
6: 70,762,532 (GRCm39) |
I108V |
probably benign |
Het |
| Tcaf1 |
A |
T |
6: 42,652,210 (GRCm39) |
H757Q |
probably damaging |
Het |
| Ttc8 |
A |
C |
12: 98,909,848 (GRCm39) |
S143R |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,294,932 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
A |
T |
4: 139,194,541 (GRCm39) |
K4280* |
probably null |
Het |
| Vmn2r15 |
C |
A |
5: 109,434,238 (GRCm39) |
S822I |
probably damaging |
Het |
| Vps53 |
A |
T |
11: 76,070,324 (GRCm39) |
M1K |
probably null |
Het |
| Zfp362 |
A |
G |
4: 128,684,053 (GRCm39) |
M18T |
possibly damaging |
Het |
| Zfp429 |
A |
G |
13: 67,538,317 (GRCm39) |
C376R |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,496,466 (GRCm39) |
N1395S |
probably damaging |
Het |
| Zmynd8 |
T |
A |
2: 165,649,521 (GRCm39) |
Q857H |
probably benign |
Het |
|
| Other mutations in Anxa3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01984:Anxa3
|
APN |
5 |
96,982,630 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCCCTCATTTAGTCACACAC -3'
(R):5'- AGAGACTCAGCTCTCATGCTC -3'
Sequencing Primer
(F):5'- TCATTTAGTCACACACAGAGTCG -3'
(R):5'- GAGACTCAGCTCTCATGCTCTTCTTC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation