Incidental Mutation 'R4629:Vwa3a'
| ID |
349043 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3a
|
| Ensembl Gene |
ENSMUSG00000030889 |
| Gene Name |
von Willebrand factor A domain containing 3A |
| Synonyms |
E030013G06Rik |
| MMRRC Submission |
041894-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4629 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
120338541-120404965 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120392598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 812
(N812K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033180]
[ENSMUST00000165055]
[ENSMUST00000166668]
[ENSMUST00000167213]
[ENSMUST00000168430]
[ENSMUST00000168600]
|
| AlphaFold |
Q3UVV9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033180
AA Change: N812K
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: N812K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VWA_3
|
142 |
297 |
6.3e-30 |
PFAM |
|
Pfam:VWA_3
|
483 |
634 |
1.2e-17 |
PFAM |
|
VWA
|
921 |
1092 |
1.89e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165055
|
| SMART Domains |
Protein: ENSMUSP00000129672
Gene: ENSMUSG00000030889
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:VWA
|
1 |
162 |
1e-94 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166083
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166668
AA Change: N812K
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: N812K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VWA_3
|
142 |
297 |
1.3e-28 |
PFAM |
|
Pfam:VWA_3
|
483 |
633 |
5.2e-17 |
PFAM |
|
VWA
|
921 |
1092 |
1.89e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167213
AA Change: N812K
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: N812K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VWA_3
|
142 |
297 |
1.3e-28 |
PFAM |
|
Pfam:VWA_3
|
483 |
633 |
5.2e-17 |
PFAM |
|
VWA
|
921 |
1092 |
1.89e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168430
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168600
|
| SMART Domains |
Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VWA_3
|
142 |
297 |
8.3e-29 |
PFAM |
|
Pfam:VWA_3
|
483 |
609 |
5.3e-17 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
T |
C |
9: 114,108,419 (GRCm39) |
|
noncoding transcript |
Het |
| Abca6 |
T |
C |
11: 110,121,375 (GRCm39) |
|
probably null |
Het |
| Adam22 |
A |
G |
5: 8,282,663 (GRCm39) |
S111P |
possibly damaging |
Het |
| Adamts18 |
C |
T |
8: 114,499,800 (GRCm39) |
W371* |
probably null |
Het |
| Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
| Alg10b |
C |
T |
15: 90,111,948 (GRCm39) |
A264V |
probably benign |
Het |
| Angpt1 |
T |
A |
15: 42,301,796 (GRCm39) |
Y404F |
probably benign |
Het |
| Apol7c |
A |
G |
15: 77,410,595 (GRCm39) |
F117S |
probably damaging |
Het |
| Asic5 |
T |
A |
3: 81,913,811 (GRCm39) |
Y162N |
probably damaging |
Het |
| Cacna2d2 |
A |
T |
9: 107,404,521 (GRCm39) |
E1104V |
probably damaging |
Het |
| Cad |
G |
A |
5: 31,227,639 (GRCm39) |
V1263I |
probably damaging |
Het |
| Cdc20 |
T |
C |
4: 118,290,761 (GRCm39) |
E413G |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,260,843 (GRCm39) |
L85Q |
probably damaging |
Het |
| Cnot6l |
A |
G |
5: 96,225,070 (GRCm39) |
V541A |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,318,790 (GRCm39) |
|
probably null |
Het |
| Cx3cr1 |
T |
C |
9: 119,880,730 (GRCm39) |
N224S |
probably damaging |
Het |
| Fam98c |
T |
C |
7: 28,854,693 (GRCm39) |
T49A |
possibly damaging |
Het |
| Fez2 |
C |
T |
17: 78,710,183 (GRCm39) |
S202N |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,924,593 (GRCm39) |
N3678S |
probably benign |
Het |
| Glyr1 |
A |
G |
16: 4,854,907 (GRCm39) |
V57A |
possibly damaging |
Het |
| Gm5617 |
T |
A |
9: 48,407,187 (GRCm39) |
L107Q |
possibly damaging |
Het |
| Gpnmb |
A |
G |
6: 49,027,994 (GRCm39) |
D401G |
possibly damaging |
Het |
| Gtpbp6 |
C |
A |
5: 110,254,774 (GRCm39) |
V100L |
possibly damaging |
Het |
| Gucy1a1 |
A |
G |
3: 82,004,931 (GRCm39) |
V618A |
probably damaging |
Het |
| H6pd |
A |
T |
4: 150,080,803 (GRCm39) |
M14K |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,435,266 (GRCm39) |
M993V |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,246,140 (GRCm39) |
|
probably benign |
Het |
| Kctd21 |
A |
G |
7: 96,996,782 (GRCm39) |
D85G |
probably damaging |
Het |
| Kera |
A |
G |
10: 97,445,493 (GRCm39) |
N284S |
probably benign |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Lama1 |
A |
G |
17: 68,112,355 (GRCm39) |
|
probably null |
Het |
| Lgr6 |
T |
C |
1: 135,032,670 (GRCm39) |
Y70C |
probably damaging |
Het |
| Lipg |
T |
A |
18: 75,081,107 (GRCm39) |
K325* |
probably null |
Het |
| Lrrc43 |
T |
C |
5: 123,637,583 (GRCm39) |
L250P |
probably damaging |
Het |
| Lyz1 |
C |
T |
10: 117,127,041 (GRCm39) |
R65H |
probably benign |
Het |
| Marchf10 |
T |
A |
11: 105,280,664 (GRCm39) |
L540F |
probably benign |
Het |
| Maz |
G |
T |
7: 126,624,519 (GRCm39) |
H334N |
possibly damaging |
Het |
| Myh1 |
A |
G |
11: 67,100,119 (GRCm39) |
K646R |
probably benign |
Het |
| Nf2 |
A |
T |
11: 4,798,915 (GRCm39) |
V24E |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,075,182 (GRCm39) |
S831P |
probably benign |
Het |
| Nup210l |
C |
T |
3: 90,098,181 (GRCm39) |
R1378* |
probably null |
Het |
| Or13a17 |
T |
A |
7: 140,271,291 (GRCm39) |
S158T |
probably benign |
Het |
| Orc5 |
G |
T |
5: 22,753,003 (GRCm39) |
F10L |
probably benign |
Het |
| Palb2 |
A |
C |
7: 121,727,189 (GRCm39) |
I227S |
possibly damaging |
Het |
| Pate3 |
A |
T |
9: 35,557,453 (GRCm39) |
C68S |
probably damaging |
Het |
| Pcdha12 |
T |
A |
18: 37,154,926 (GRCm39) |
N548K |
probably damaging |
Het |
| Prdm10 |
C |
T |
9: 31,248,612 (GRCm39) |
Q345* |
probably null |
Het |
| Ptx4 |
A |
T |
17: 25,341,737 (GRCm39) |
N71Y |
probably damaging |
Het |
| Rab42 |
C |
T |
4: 132,030,548 (GRCm39) |
R34Q |
probably benign |
Het |
| Rergl |
A |
G |
6: 139,478,850 (GRCm39) |
V8A |
probably damaging |
Het |
| Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
| Rpia |
A |
G |
6: 70,743,578 (GRCm39) |
M291T |
possibly damaging |
Het |
| Rplp0 |
G |
A |
5: 115,699,482 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
A |
T |
19: 41,871,955 (GRCm39) |
I443N |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Saxo1 |
T |
C |
4: 86,406,064 (GRCm39) |
Y45C |
probably damaging |
Het |
| Sec24a |
A |
T |
11: 51,612,640 (GRCm39) |
|
probably null |
Het |
| Setdb2 |
A |
G |
14: 59,646,808 (GRCm39) |
V585A |
probably benign |
Het |
| Sik1 |
T |
C |
17: 32,068,581 (GRCm39) |
E347G |
probably benign |
Het |
| Srbd1 |
T |
C |
17: 86,428,100 (GRCm39) |
T378A |
probably damaging |
Het |
| Tacr1 |
A |
G |
6: 82,380,861 (GRCm39) |
T91A |
probably benign |
Het |
| Tas2r135 |
T |
A |
6: 42,383,160 (GRCm39) |
M233K |
probably benign |
Het |
| Tfg |
A |
T |
16: 56,533,039 (GRCm39) |
M40K |
probably damaging |
Het |
| Tmem35b |
C |
T |
4: 127,022,796 (GRCm39) |
P133S |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,139,511 (GRCm39) |
S672T |
probably benign |
Het |
| Trpv3 |
A |
T |
11: 73,172,615 (GRCm39) |
K253N |
probably damaging |
Het |
| Ube2c |
A |
G |
2: 164,614,093 (GRCm39) |
N143S |
possibly damaging |
Het |
| Unc13a |
A |
G |
8: 72,106,097 (GRCm39) |
M669T |
possibly damaging |
Het |
| Vmn1r61 |
T |
A |
7: 5,614,249 (GRCm39) |
I22F |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,038,150 (GRCm39) |
Q575L |
possibly damaging |
Het |
| Vmn2r81 |
A |
T |
10: 79,103,276 (GRCm39) |
E156D |
probably damaging |
Het |
| Wasl |
T |
C |
6: 24,637,680 (GRCm39) |
R71G |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,824,515 (GRCm39) |
N1301K |
probably damaging |
Het |
| Zfp827 |
G |
A |
8: 79,787,011 (GRCm39) |
R59Q |
probably damaging |
Het |
| Zfp87 |
A |
G |
13: 74,520,512 (GRCm39) |
C189R |
probably damaging |
Het |
|
| Other mutations in Vwa3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01584:Vwa3a
|
APN |
7 |
120,383,197 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01807:Vwa3a
|
APN |
7 |
120,374,729 (GRCm39) |
splice site |
probably null |
|
|
IGL02850:Vwa3a
|
APN |
7 |
120,372,515 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03253:Vwa3a
|
APN |
7 |
120,378,092 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4812001:Vwa3a
|
UTSW |
7 |
120,375,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:Vwa3a
|
UTSW |
7 |
120,379,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0114:Vwa3a
|
UTSW |
7 |
120,374,603 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1145:Vwa3a
|
UTSW |
7 |
120,392,566 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1145:Vwa3a
|
UTSW |
7 |
120,392,566 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1306:Vwa3a
|
UTSW |
7 |
120,399,613 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1355:Vwa3a
|
UTSW |
7 |
120,383,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1412:Vwa3a
|
UTSW |
7 |
120,379,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Vwa3a
|
UTSW |
7 |
120,367,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Vwa3a
|
UTSW |
7 |
120,367,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1584:Vwa3a
|
UTSW |
7 |
120,367,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Vwa3a
|
UTSW |
7 |
120,379,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Vwa3a
|
UTSW |
7 |
120,403,254 (GRCm39) |
splice site |
probably null |
|
|
R1717:Vwa3a
|
UTSW |
7 |
120,392,609 (GRCm39) |
missense |
probably benign |
|
|
R1834:Vwa3a
|
UTSW |
7 |
120,389,359 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1912:Vwa3a
|
UTSW |
7 |
120,394,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Vwa3a
|
UTSW |
7 |
120,379,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1978:Vwa3a
|
UTSW |
7 |
120,358,177 (GRCm39) |
missense |
probably null |
0.00 |
|
R2034:Vwa3a
|
UTSW |
7 |
120,381,868 (GRCm39) |
nonsense |
probably null |
|
|
R2059:Vwa3a
|
UTSW |
7 |
120,358,172 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2120:Vwa3a
|
UTSW |
7 |
120,391,641 (GRCm39) |
missense |
probably benign |
|
|
R2408:Vwa3a
|
UTSW |
7 |
120,372,517 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3423:Vwa3a
|
UTSW |
7 |
120,398,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3744:Vwa3a
|
UTSW |
7 |
120,351,817 (GRCm39) |
missense |
probably benign |
|
|
R3816:Vwa3a
|
UTSW |
7 |
120,399,602 (GRCm39) |
missense |
probably benign |
0.29 |
|
R3849:Vwa3a
|
UTSW |
7 |
120,361,687 (GRCm39) |
nonsense |
probably null |
|
|
R3904:Vwa3a
|
UTSW |
7 |
120,358,099 (GRCm39) |
missense |
probably benign |
|
|
R4031:Vwa3a
|
UTSW |
7 |
120,367,455 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4408:Vwa3a
|
UTSW |
7 |
120,378,149 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4628:Vwa3a
|
UTSW |
7 |
120,392,598 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4652:Vwa3a
|
UTSW |
7 |
120,378,138 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4884:Vwa3a
|
UTSW |
7 |
120,390,924 (GRCm39) |
missense |
probably benign |
|
|
R4948:Vwa3a
|
UTSW |
7 |
120,375,487 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5112:Vwa3a
|
UTSW |
7 |
120,383,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5385:Vwa3a
|
UTSW |
7 |
120,389,365 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5386:Vwa3a
|
UTSW |
7 |
120,389,365 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5579:Vwa3a
|
UTSW |
7 |
120,367,396 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5587:Vwa3a
|
UTSW |
7 |
120,379,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5639:Vwa3a
|
UTSW |
7 |
120,389,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6102:Vwa3a
|
UTSW |
7 |
120,375,361 (GRCm39) |
splice site |
probably null |
|
|
R6239:Vwa3a
|
UTSW |
7 |
120,393,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6279:Vwa3a
|
UTSW |
7 |
120,381,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6298:Vwa3a
|
UTSW |
7 |
120,394,874 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6300:Vwa3a
|
UTSW |
7 |
120,381,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6336:Vwa3a
|
UTSW |
7 |
120,361,646 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6907:Vwa3a
|
UTSW |
7 |
120,391,804 (GRCm39) |
unclassified |
probably benign |
|
|
R7135:Vwa3a
|
UTSW |
7 |
120,372,253 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7215:Vwa3a
|
UTSW |
7 |
120,394,853 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7282:Vwa3a
|
UTSW |
7 |
120,385,688 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7351:Vwa3a
|
UTSW |
7 |
120,375,559 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7406:Vwa3a
|
UTSW |
7 |
120,378,138 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7557:Vwa3a
|
UTSW |
7 |
120,394,841 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7612:Vwa3a
|
UTSW |
7 |
120,351,838 (GRCm39) |
missense |
probably null |
0.47 |
|
R7699:Vwa3a
|
UTSW |
7 |
120,351,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7823:Vwa3a
|
UTSW |
7 |
120,372,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8074:Vwa3a
|
UTSW |
7 |
120,398,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8730:Vwa3a
|
UTSW |
7 |
120,381,910 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8768:Vwa3a
|
UTSW |
7 |
120,375,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8941:Vwa3a
|
UTSW |
7 |
120,375,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9116:Vwa3a
|
UTSW |
7 |
120,366,470 (GRCm39) |
missense |
|
|
|
R9134:Vwa3a
|
UTSW |
7 |
120,377,659 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9264:Vwa3a
|
UTSW |
7 |
120,374,687 (GRCm39) |
missense |
probably benign |
|
|
R9450:Vwa3a
|
UTSW |
7 |
120,403,253 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9464:Vwa3a
|
UTSW |
7 |
120,385,682 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9792:Vwa3a
|
UTSW |
7 |
120,383,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9793:Vwa3a
|
UTSW |
7 |
120,383,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7732:Vwa3a
|
UTSW |
7 |
120,378,172 (GRCm39) |
splice site |
probably benign |
|
|
X0019:Vwa3a
|
UTSW |
7 |
120,367,432 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Vwa3a
|
UTSW |
7 |
120,358,356 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGCTAAATGGAGAATGGGAAC -3'
(R):5'- CCACAGTAAGCAGGCATTCTTAG -3'
Sequencing Primer
(F):5'- ATAATTTACCTTCTACATCGTCAGC -3'
(R):5'- AAGCAGGCATTCTTAGCATGTTTGTC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation