Incidental Mutation 'R8018:Anxa3'
ID |
617210 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Anxa3
|
Ensembl Gene |
ENSMUSG00000029484 |
Gene Name |
annexin A3 |
Synonyms |
Anx3 |
MMRRC Submission |
067458-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8018 (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 96968288 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 114
(I114F)
|
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: I114F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000031447 Gene: ENSMUSG00000029484 AA Change: I114F
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: I114F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000143491 Gene: ENSMUSG00000029484 AA Change: I114F
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 |
probably damaging
Transcript: ENSMUST00000200379
AA Change: I31F
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000142527 Gene: ENSMUSG00000029484 AA Change: I31F
Domain | Start | End | E-Value | Type |
ANX
|
24 |
76 |
7.2e-28 |
SMART |
|
Meta Mutation Damage Score |
0.6157 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
98% (45/46) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
G |
A |
9: 55,880,991 (GRCm39) |
T146I |
unknown |
Het |
Abca16 |
A |
G |
7: 120,132,866 (GRCm39) |
E1265G |
probably benign |
Het |
Adar |
T |
C |
3: 89,654,882 (GRCm39) |
S924P |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
AI429214 |
A |
T |
8: 37,460,820 (GRCm39) |
|
probably benign |
Het |
Ankmy1 |
A |
T |
1: 92,814,003 (GRCm39) |
L392Q |
probably benign |
Het |
Ccdc158 |
T |
C |
5: 92,771,260 (GRCm39) |
D985G |
possibly damaging |
Het |
Cndp2 |
C |
T |
18: 84,686,727 (GRCm39) |
V432I |
probably benign |
Het |
Ctbp2 |
T |
C |
7: 132,616,095 (GRCm39) |
K280R |
probably benign |
Het |
Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
Dnaaf4 |
T |
A |
9: 72,879,598 (GRCm39) |
|
probably benign |
Het |
Dynap |
T |
C |
18: 70,375,093 (GRCm39) |
T41A |
possibly damaging |
Het |
Elfn2 |
A |
G |
15: 78,557,968 (GRCm39) |
L193P |
probably damaging |
Het |
Fcrl2 |
A |
T |
3: 87,166,933 (GRCm39) |
L20* |
probably null |
Het |
Flcn |
T |
C |
11: 59,684,948 (GRCm39) |
D501G |
probably damaging |
Het |
Gmip |
A |
G |
8: 70,268,143 (GRCm39) |
E399G |
probably benign |
Het |
Grm7 |
A |
G |
6: 111,184,737 (GRCm39) |
E356G |
probably benign |
Het |
Hs3st2 |
A |
G |
7: 121,099,639 (GRCm39) |
|
probably null |
Het |
Kcnh2 |
G |
A |
5: 24,525,014 (GRCm39) |
S1158L |
probably damaging |
Het |
Lancl2 |
A |
G |
6: 57,690,078 (GRCm39) |
T104A |
probably damaging |
Het |
Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
Mthfd2l |
T |
A |
5: 91,107,672 (GRCm39) |
I178N |
probably damaging |
Het |
Nbeal2 |
G |
T |
9: 110,458,225 (GRCm39) |
|
probably benign |
Het |
Niban1 |
A |
T |
1: 151,593,006 (GRCm39) |
K564* |
probably null |
Het |
Nipal3 |
C |
T |
4: 135,174,659 (GRCm39) |
R364H |
possibly damaging |
Het |
Or2b4 |
A |
G |
17: 38,116,038 (GRCm39) |
M1V |
probably null |
Het |
Oxa1l |
A |
G |
14: 54,600,757 (GRCm39) |
I77V |
not run |
Het |
Phf10 |
T |
A |
17: 15,174,378 (GRCm39) |
Q233H |
possibly damaging |
Het |
Pias2 |
T |
A |
18: 77,216,654 (GRCm39) |
N288K |
probably benign |
Het |
Pramel43 |
T |
C |
5: 94,761,839 (GRCm39) |
N244S |
probably benign |
Het |
Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,608,565 (GRCm39) |
|
probably benign |
Het |
Ptprd |
T |
C |
4: 76,003,757 (GRCm39) |
T1010A |
probably damaging |
Het |
Ralgapa2 |
T |
C |
2: 146,182,311 (GRCm39) |
D1676G |
probably damaging |
Het |
Rapgefl1 |
T |
G |
11: 98,731,166 (GRCm39) |
|
probably null |
Het |
Rrp7a |
C |
T |
15: 83,001,125 (GRCm39) |
E269K |
possibly damaging |
Het |
Ryr3 |
A |
C |
2: 112,508,777 (GRCm39) |
M3399R |
probably damaging |
Het |
Secisbp2l |
C |
A |
2: 125,587,829 (GRCm39) |
R762L |
probably damaging |
Het |
Smad7 |
T |
G |
18: 75,502,355 (GRCm39) |
L110R |
possibly damaging |
Het |
St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
Tcea3 |
T |
G |
4: 135,985,229 (GRCm39) |
|
probably benign |
Het |
Tdrd9 |
T |
C |
12: 111,999,180 (GRCm39) |
V765A |
probably benign |
Het |
Tdrd9 |
C |
T |
12: 112,010,822 (GRCm39) |
R1130W |
probably damaging |
Het |
Tia1 |
C |
T |
6: 86,402,034 (GRCm39) |
P189S |
probably benign |
Het |
Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
Ubxn8 |
A |
G |
8: 34,113,243 (GRCm39) |
C204R |
probably damaging |
Het |
Vmn1r76 |
A |
G |
7: 11,664,810 (GRCm39) |
S135P |
probably damaging |
Het |
Vps18 |
T |
A |
2: 119,124,492 (GRCm39) |
L473H |
probably damaging |
Het |
Zfp444 |
A |
G |
7: 6,191,142 (GRCm39) |
T108A |
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 |
|
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 |
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'- GAAAATCAGAAACCTAGTGTCGAGC -3'
(R):5'- CTAACTTGCCCTGAACATGC -3'
Sequencing Primer
(F):5'- TCGAGCAATATGAGGTCCTACACTG -3'
(R):5'- CCCTGAACATGCACAGTTCATTGTAG -3'
|
Posted On |
2020-01-23 |