Incidental Mutation 'R5733:Anxa3'
ID |
451531 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Anxa3
|
Ensembl Gene |
ENSMUSG00000029484 |
Gene Name |
annexin A3 |
Synonyms |
Anx3 |
MMRRC Submission |
043193-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5733 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
96941244-96993827 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 96968331 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 128
(I128N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143491
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031447]
[ENSMUST00000198631]
[ENSMUST00000199330]
[ENSMUST00000200379]
|
AlphaFold |
O35639 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031447
AA Change: I128N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000031447 Gene: ENSMUSG00000029484 AA Change: I128N
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 damaging
Transcript: ENSMUST00000198631
AA Change: I128N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143491 Gene: ENSMUSG00000029484 AA Change: I128N
Domain | Start | End | E-Value | Type |
ANX
|
35 |
87 |
5.74e-24 |
SMART |
ANX
|
107 |
159 |
1.67e-25 |
SMART |
|
Predicted Effect |
probably benign
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 |
possibly damaging
Transcript: ENSMUST00000200379
AA Change: I45N
PolyPhen 2
Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142527 Gene: ENSMUSG00000029484 AA Change: I45N
Domain | Start | End | E-Value | Type |
ANX
|
24 |
76 |
7.2e-28 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 95.0%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox3 |
T |
A |
5: 35,762,543 (GRCm39) |
|
probably null |
Het |
Ahnak2 |
A |
T |
12: 112,742,100 (GRCm39) |
Y657* |
probably null |
Het |
Bsnd |
T |
C |
4: 106,345,198 (GRCm39) |
T83A |
probably benign |
Het |
Capn10 |
A |
G |
1: 92,871,635 (GRCm39) |
Y411C |
probably benign |
Het |
Capn3 |
G |
A |
2: 120,315,075 (GRCm39) |
W201* |
probably null |
Het |
Crtap |
T |
C |
9: 114,207,164 (GRCm39) |
T365A |
probably benign |
Het |
Daam1 |
A |
G |
12: 71,992,272 (GRCm39) |
D329G |
unknown |
Het |
Dmxl2 |
A |
T |
9: 54,283,550 (GRCm39) |
L2761Q |
possibly damaging |
Het |
Fcho2 |
A |
C |
13: 98,926,310 (GRCm39) |
V91G |
probably damaging |
Het |
Fen1 |
A |
T |
19: 10,178,022 (GRCm39) |
C141S |
possibly damaging |
Het |
Fkbp15 |
G |
C |
4: 62,225,166 (GRCm39) |
A831G |
probably benign |
Het |
Frmd4a |
A |
T |
2: 4,305,768 (GRCm39) |
R14S |
possibly damaging |
Het |
Fzr1 |
A |
G |
10: 81,206,160 (GRCm39) |
F176L |
possibly damaging |
Het |
Garem2 |
A |
G |
5: 30,321,336 (GRCm39) |
D565G |
probably damaging |
Het |
Garre1 |
A |
T |
7: 33,944,505 (GRCm39) |
S76T |
probably damaging |
Het |
Iqca1 |
G |
T |
1: 89,998,257 (GRCm39) |
T549K |
probably damaging |
Het |
Itgax |
T |
A |
7: 127,739,647 (GRCm39) |
S686R |
probably damaging |
Het |
Knop1 |
C |
A |
7: 118,445,305 (GRCm39) |
G220C |
probably damaging |
Het |
Lyzl1 |
T |
A |
18: 4,169,142 (GRCm39) |
C49S |
probably damaging |
Het |
Mpzl1 |
A |
T |
1: 165,433,180 (GRCm39) |
I157K |
probably benign |
Het |
Mrgprb2 |
T |
C |
7: 48,202,261 (GRCm39) |
I155V |
probably benign |
Het |
Mucl3 |
T |
C |
17: 35,949,102 (GRCm39) |
M166V |
probably benign |
Het |
Mvb12b |
T |
C |
2: 33,717,728 (GRCm39) |
T167A |
probably benign |
Het |
Myh3 |
A |
G |
11: 66,979,445 (GRCm39) |
N491S |
probably benign |
Het |
Myo5b |
A |
G |
18: 74,787,128 (GRCm39) |
D511G |
possibly damaging |
Het |
Or10ak8 |
C |
T |
4: 118,774,035 (GRCm39) |
V210I |
probably benign |
Het |
Or11h4 |
T |
C |
14: 50,974,509 (GRCm39) |
T37A |
probably benign |
Het |
Or6b1 |
C |
T |
6: 42,815,180 (GRCm39) |
R122C |
probably damaging |
Het |
Or8k21 |
T |
G |
2: 86,145,558 (GRCm39) |
Q24P |
probably damaging |
Het |
Ptcd1 |
A |
G |
5: 145,091,671 (GRCm39) |
M476T |
probably damaging |
Het |
Pum3 |
A |
G |
19: 27,398,695 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
G |
A |
10: 58,321,658 (GRCm39) |
D2652N |
probably damaging |
Het |
Rassf1 |
T |
C |
9: 107,435,213 (GRCm39) |
V166A |
probably damaging |
Het |
Rictor |
A |
G |
15: 6,812,585 (GRCm39) |
H907R |
probably benign |
Het |
Rorb |
T |
C |
19: 18,965,471 (GRCm39) |
E6G |
probably damaging |
Het |
Serpina3f |
A |
T |
12: 104,183,182 (GRCm39) |
T15S |
possibly damaging |
Het |
Sorbs2 |
T |
C |
8: 46,212,226 (GRCm39) |
L100P |
probably damaging |
Het |
Sprr2k |
T |
C |
3: 92,340,655 (GRCm39) |
|
probably benign |
Het |
Srrm2 |
T |
A |
17: 24,040,360 (GRCm39) |
S2431T |
probably damaging |
Het |
Stox2 |
T |
A |
8: 47,866,172 (GRCm39) |
K57* |
probably null |
Het |
Ttc21a |
G |
A |
9: 119,770,327 (GRCm39) |
V133I |
probably benign |
Het |
Vasn |
T |
C |
16: 4,468,026 (GRCm39) |
Y658H |
possibly damaging |
Het |
Zfp251 |
A |
G |
15: 76,754,527 (GRCm39) |
Y35H |
probably damaging |
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 |
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 |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- CTAGTGTCGAGCAATATGAGGTC -3'
(R):5'- GCAGATCACATTCTAACTTGCCC -3'
Sequencing Primer
(F):5'- TCGAGCAATATGAGGTCCTACACTG -3'
(R):5'- CCCTGAACATGCACAGTTCATTGTAG -3'
|
Posted On |
2017-01-03 |