Incidental Mutation 'R6558:Anxa3'
| ID |
522240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Anxa3
|
| Ensembl Gene |
ENSMUSG00000029484 |
| Gene Name |
annexin A3 |
| Synonyms |
Anx3 |
| MMRRC Submission |
044682-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6558 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
96941244-96993827 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 96960798 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031447]
[ENSMUST00000198631]
[ENSMUST00000199330]
[ENSMUST00000200379]
|
| AlphaFold |
O35639 |
| Predicted Effect |
probably null
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: ENSMUST00000197339
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000198631
|
| SMART Domains |
Protein: ENSMUSP00000143491
Gene: ENSMUSG00000029484
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
35 |
87 |
5.74e-24 |
SMART |
|
ANX
|
107 |
159 |
1.67e-25 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000199330
|
| SMART Domains |
Protein: ENSMUSP00000143615
Gene: ENSMUSG00000029484
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
35 |
84 |
1.5e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199656
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000200379
|
| SMART Domains |
Protein: ENSMUSP00000142527
Gene: ENSMUSG00000029484
| Domain | Start | End | E-Value | Type |
|---|
|
ANX
|
24 |
76 |
7.2e-28 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (31/31) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,839,572 (GRCm39) |
V161A |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,222,527 (GRCm39) |
I261T |
probably damaging |
Het |
| Chml |
A |
T |
1: 175,514,748 (GRCm39) |
M391K |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,276,971 (GRCm39) |
L659P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Cxcl2 |
T |
C |
5: 91,052,224 (GRCm39) |
L71P |
probably damaging |
Het |
| Cxcl5 |
A |
G |
5: 90,907,677 (GRCm39) |
E83G |
probably damaging |
Het |
| Dpt |
A |
G |
1: 164,624,380 (GRCm39) |
Y27C |
unknown |
Het |
| Drc3 |
A |
T |
11: 60,255,718 (GRCm39) |
I102F |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,876,302 (GRCm39) |
D345G |
probably damaging |
Het |
| Gm14412 |
G |
T |
2: 177,006,347 (GRCm39) |
T516K |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,290,288 (GRCm39) |
N7D |
probably benign |
Het |
| Hoxc11 |
T |
C |
15: 102,863,301 (GRCm39) |
L114P |
probably damaging |
Het |
| Htr7 |
T |
C |
19: 36,034,640 (GRCm39) |
N5S |
probably damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,589 (GRCm39) |
T248I |
probably damaging |
Het |
| Lrrc71 |
G |
A |
3: 87,649,950 (GRCm39) |
T326M |
probably benign |
Het |
| Map7d1 |
G |
A |
4: 126,126,702 (GRCm39) |
A798V |
unknown |
Het |
| Mfsd13a |
T |
A |
19: 46,354,917 (GRCm39) |
N31K |
probably damaging |
Het |
| Myadm |
T |
A |
7: 3,345,577 (GRCm39) |
I113N |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,741,678 (GRCm39) |
E1509G |
probably damaging |
Het |
| Nalcn |
C |
G |
14: 123,723,919 (GRCm39) |
R382P |
probably benign |
Het |
| Ogfr |
C |
T |
2: 180,237,197 (GRCm39) |
P594L |
possibly damaging |
Het |
| Or2r11 |
T |
A |
6: 42,437,711 (GRCm39) |
M81L |
probably benign |
Het |
| Or5p80 |
T |
A |
7: 108,229,395 (GRCm39) |
H65Q |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,839,052 (GRCm39) |
M877I |
probably benign |
Het |
| Sec23a |
A |
T |
12: 59,051,338 (GRCm39) |
S102T |
probably benign |
Het |
| Stoml1 |
T |
A |
9: 58,163,951 (GRCm39) |
V90E |
probably damaging |
Het |
| Stra8 |
G |
A |
6: 34,909,975 (GRCm39) |
W111* |
probably null |
Het |
| Timeless |
T |
A |
10: 128,085,432 (GRCm39) |
V850D |
probably benign |
Het |
| Unc5c |
A |
T |
3: 141,495,490 (GRCm39) |
D453V |
probably damaging |
Het |
| Xdh |
T |
G |
17: 74,200,708 (GRCm39) |
T1138P |
possibly damaging |
Het |
| Zkscan6 |
A |
T |
11: 65,719,051 (GRCm39) |
H357L |
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 |
|
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGAACTTGTTTTGGCCCC -3'
(R):5'- TAAGTCACCATTCTTCATTCCACAG -3'
Sequencing Primer
(F):5'- GCCCCCTGAATCTGTTGTTTGAAAC -3'
(R):5'- TCTTCATTCCACAGTGAAGAAGCAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation