Incidental Mutation 'R9134:Vwa3a'
| ID |
693837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3a
|
| Ensembl Gene |
ENSMUSG00000030889 |
| Gene Name |
von Willebrand factor A domain containing 3A |
| Synonyms |
E030013G06Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9134 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
120338541-120404965 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120377659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 438
(V438A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033180]
[ENSMUST00000165055]
[ENSMUST00000166668]
[ENSMUST00000167213]
[ENSMUST00000168600]
|
| AlphaFold |
Q3UVV9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033180
AA Change: V438A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: V438A
| 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 damaging
Transcript: ENSMUST00000166668
AA Change: V438A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: V438A
| 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 damaging
Transcript: ENSMUST00000167213
AA Change: V438A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: V438A
| 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 |
possibly damaging
Transcript: ENSMUST00000168600
AA Change: V438A
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889
AA Change: V438A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
95% (54/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1m1 |
A |
G |
8: 72,993,913 (GRCm39) |
|
probably benign |
Het |
| Arhgdia |
A |
T |
11: 120,470,392 (GRCm39) |
I122N |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,060,351 (GRCm39) |
H915Q |
probably benign |
Het |
| Atad5 |
G |
A |
11: 80,023,931 (GRCm39) |
R1681K |
probably benign |
Het |
| Bpifb9b |
T |
C |
2: 154,151,441 (GRCm39) |
V54A |
probably benign |
Het |
| Cby3 |
A |
C |
11: 50,250,153 (GRCm39) |
T25P |
probably damaging |
Het |
| Ccdc138 |
T |
G |
10: 58,374,102 (GRCm39) |
L374R |
probably damaging |
Het |
| Cd84 |
T |
A |
1: 171,679,413 (GRCm39) |
N30K |
probably damaging |
Het |
| Cdk20 |
T |
A |
13: 64,580,906 (GRCm39) |
|
probably null |
Het |
| Chd9 |
A |
G |
8: 91,659,754 (GRCm39) |
H238R |
unknown |
Het |
| Cplane1 |
T |
C |
15: 8,228,716 (GRCm39) |
V929A |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,594,237 (GRCm39) |
H276L |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,404,910 (GRCm39) |
L2544P |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,978,972 (GRCm39) |
T1807A |
probably damaging |
Het |
| Dph7 |
C |
T |
2: 24,861,720 (GRCm39) |
H378Y |
probably benign |
Het |
| Enkur |
T |
C |
2: 21,185,779 (GRCm39) |
I249V |
probably benign |
Het |
| Fam117a |
C |
A |
11: 95,271,745 (GRCm39) |
S439* |
probably null |
Het |
| Fam184a |
T |
G |
10: 53,573,344 (GRCm39) |
K345N |
probably damaging |
Het |
| Fam228a |
T |
C |
12: 4,765,686 (GRCm39) |
R255G |
probably benign |
Het |
| Fpr-rs7 |
A |
T |
17: 20,334,325 (GRCm39) |
M55K |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,562,321 (GRCm39) |
Y729H |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,832,177 (GRCm39) |
T2989A |
probably damaging |
Het |
| Hspb8 |
A |
G |
5: 116,547,547 (GRCm39) |
L145P |
probably damaging |
Het |
| Iars1 |
T |
A |
13: 49,855,323 (GRCm39) |
V250E |
probably benign |
Het |
| Ide |
G |
T |
19: 37,273,561 (GRCm39) |
|
probably benign |
Het |
| Ino80c |
T |
C |
18: 24,254,765 (GRCm39) |
S32G |
probably benign |
Het |
| Insr |
G |
A |
8: 3,308,413 (GRCm39) |
R208W |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,743,351 (GRCm39) |
R1674W |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,666,514 (GRCm39) |
V1153M |
unknown |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lrrc41 |
C |
A |
4: 115,945,782 (GRCm39) |
Q166K |
possibly damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,820,183 (GRCm39) |
|
probably null |
Het |
| Mndal |
T |
C |
1: 173,699,096 (GRCm39) |
I190V |
unknown |
Het |
| Nisch |
TCTGCTGC |
TCTGCTGCTGC |
14: 30,896,637 (GRCm39) |
|
probably benign |
Het |
| Nme4 |
G |
T |
17: 26,314,389 (GRCm39) |
A13E |
probably benign |
Het |
| Or14c39 |
C |
A |
7: 86,344,588 (GRCm39) |
S308* |
probably null |
Het |
| Or3a1 |
A |
G |
11: 74,225,670 (GRCm39) |
I129T |
probably damaging |
Het |
| Or5b114-ps1 |
G |
T |
19: 13,352,613 (GRCm39) |
A96S |
probably damaging |
Het |
| Pcmt1 |
A |
T |
10: 7,520,207 (GRCm39) |
|
probably benign |
Het |
| Pde4c |
G |
T |
8: 71,201,160 (GRCm39) |
V493F |
probably damaging |
Het |
| Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,825,182 (GRCm39) |
S487G |
|
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Prr23a1 |
T |
C |
9: 98,724,935 (GRCm39) |
L99P |
|
Het |
| Rex2 |
C |
G |
4: 147,142,643 (GRCm39) |
T377S |
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,703,738 (GRCm39) |
F50L |
|
Het |
| Srgap1 |
A |
G |
10: 121,883,127 (GRCm39) |
|
probably benign |
Het |
| Syt3 |
A |
G |
7: 44,042,791 (GRCm39) |
N358D |
possibly damaging |
Het |
| Tfec |
T |
A |
6: 16,835,326 (GRCm39) |
T151S |
probably damaging |
Het |
| Tll1 |
A |
T |
8: 64,469,201 (GRCm39) |
I974N |
possibly damaging |
Het |
| Tmc2 |
T |
C |
2: 130,074,321 (GRCm39) |
V338A |
probably benign |
Het |
| Trappc6b |
T |
A |
12: 59,097,160 (GRCm39) |
D54V |
probably damaging |
Het |
| Trav6-2 |
T |
A |
14: 52,905,109 (GRCm39) |
C43* |
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,127,755 (GRCm39) |
|
probably null |
Het |
| Vmn1r2 |
T |
A |
4: 3,172,884 (GRCm39) |
W268R |
probably damaging |
Het |
| Vmn2r120 |
A |
G |
17: 57,832,093 (GRCm39) |
L232S |
probably damaging |
Het |
| Vps26b |
T |
C |
9: 26,921,225 (GRCm39) |
T325A |
probably benign |
Het |
| Wdcp |
C |
A |
12: 4,901,533 (GRCm39) |
S463* |
probably null |
Het |
| Xkr4 |
C |
T |
1: 3,740,860 (GRCm39) |
G238S |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,551,886 (GRCm39) |
N179S |
probably benign |
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 |
|
R4629: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 |
|
|
|
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'- TCTGACTCCAGATGTGCTCAGG -3'
(R):5'- CCTTCAAATGTGGGACAAGGC -3'
Sequencing Primer
(F):5'- TCCAGATGTGCTCAGGACTGG -3'
(R):5'- CCAAAAGCCCAGATTCTTGTTTGTG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation