Incidental Mutation 'R6239:Vwa3a'
| ID |
505120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3a
|
| Ensembl Gene |
ENSMUSG00000030889 |
| Gene Name |
von Willebrand factor A domain containing 3A |
| Synonyms |
E030013G06Rik |
| MMRRC Submission |
044363-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6239 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
120338541-120404965 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120393457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 851
(R851S)
|
| 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: R851S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: R851S
| 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: R851S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: R851S
| 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: R851S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: R851S
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
T |
A |
1: 78,674,182 (GRCm39) |
S373T |
probably benign |
Het |
| Aox1 |
G |
A |
1: 58,344,550 (GRCm39) |
|
probably null |
Het |
| Apol7c |
T |
C |
15: 77,410,631 (GRCm39) |
E105G |
probably benign |
Het |
| B4galnt2 |
C |
T |
11: 95,767,065 (GRCm39) |
A184T |
probably damaging |
Het |
| Castor1 |
A |
G |
11: 4,168,967 (GRCm39) |
T45A |
possibly damaging |
Het |
| Casz1 |
A |
G |
4: 149,022,734 (GRCm39) |
Q600R |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,421,332 (GRCm39) |
S1133T |
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,233,927 (GRCm39) |
I2290V |
possibly damaging |
Het |
| Clmn |
A |
T |
12: 104,747,104 (GRCm39) |
H814Q |
probably benign |
Het |
| Creb3l1 |
A |
G |
2: 91,825,748 (GRCm39) |
C124R |
probably damaging |
Het |
| Cspg4 |
A |
G |
9: 56,795,466 (GRCm39) |
D1067G |
probably benign |
Het |
| Cyp1a1 |
T |
A |
9: 57,609,361 (GRCm39) |
V354E |
probably benign |
Het |
| Cyp2t4 |
A |
T |
7: 26,856,900 (GRCm39) |
Q280L |
possibly damaging |
Het |
| Dcaf6 |
A |
T |
1: 165,178,839 (GRCm39) |
D563E |
possibly damaging |
Het |
| Dennd2a |
A |
G |
6: 39,465,750 (GRCm39) |
F607L |
probably damaging |
Het |
| Dennd2d |
T |
A |
3: 106,402,193 (GRCm39) |
F288I |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 31,029,333 (GRCm39) |
R4101C |
probably damaging |
Het |
| Dnai4 |
A |
C |
4: 102,923,640 (GRCm39) |
N396K |
probably benign |
Het |
| Dnase2a |
G |
T |
8: 85,635,508 (GRCm39) |
|
probably null |
Het |
| Dnmbp |
C |
T |
19: 43,836,624 (GRCm39) |
V1235I |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,699,275 (GRCm39) |
D1826G |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,315 (GRCm39) |
Y337C |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,108,579 (GRCm39) |
E202D |
probably benign |
Het |
| Fus |
C |
T |
7: 127,580,606 (GRCm39) |
R228C |
possibly damaging |
Het |
| Gbf1 |
A |
G |
19: 46,248,135 (GRCm39) |
E304G |
probably benign |
Het |
| Ggt1 |
A |
G |
10: 75,421,515 (GRCm39) |
|
probably null |
Het |
| Gm19410 |
A |
T |
8: 36,245,918 (GRCm39) |
D354V |
probably damaging |
Het |
| Hdac4 |
T |
C |
1: 91,982,694 (GRCm39) |
D8G |
probably benign |
Het |
| Hhat |
A |
T |
1: 192,277,395 (GRCm39) |
Y355N |
probably damaging |
Het |
| Ift140 |
T |
C |
17: 25,247,946 (GRCm39) |
V268A |
probably benign |
Het |
| Il4i1 |
A |
G |
7: 44,489,836 (GRCm39) |
R542G |
probably benign |
Het |
| Itga2b |
C |
T |
11: 102,356,144 (GRCm39) |
V328I |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,731,093 (GRCm39) |
|
probably benign |
Het |
| Lrit3 |
A |
T |
3: 129,593,995 (GRCm39) |
I194N |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,872,717 (GRCm39) |
L2025P |
probably benign |
Het |
| Neb |
T |
C |
2: 52,164,000 (GRCm39) |
N1986S |
probably benign |
Het |
| Osbpl7 |
G |
A |
11: 96,943,650 (GRCm39) |
|
probably null |
Het |
| Pabpc2 |
T |
A |
18: 39,906,891 (GRCm39) |
L52Q |
probably damaging |
Het |
| Pald1 |
T |
C |
10: 61,156,910 (GRCm39) |
S847G |
possibly damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,415,454 (GRCm39) |
D557G |
probably damaging |
Het |
| Prmt2 |
A |
T |
10: 76,058,425 (GRCm39) |
L128* |
probably null |
Het |
| Ptpn3 |
C |
A |
4: 57,249,981 (GRCm39) |
A172S |
probably benign |
Het |
| Ptpro |
A |
T |
6: 137,357,606 (GRCm39) |
T366S |
probably benign |
Het |
| Reg4 |
A |
G |
3: 98,138,600 (GRCm39) |
K100R |
probably null |
Het |
| Rims2 |
A |
T |
15: 39,061,758 (GRCm39) |
M1L |
unknown |
Het |
| Sele |
A |
G |
1: 163,878,377 (GRCm39) |
S239G |
probably damaging |
Het |
| Slc11a1 |
G |
A |
1: 74,423,274 (GRCm39) |
R375Q |
possibly damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,248,617 (GRCm39) |
T554A |
unknown |
Het |
| Snw1 |
A |
T |
12: 87,511,398 (GRCm39) |
N84K |
probably damaging |
Het |
| Stpg4 |
T |
C |
17: 87,718,667 (GRCm39) |
Y171C |
probably benign |
Het |
| Styxl2 |
A |
T |
1: 165,926,388 (GRCm39) |
S1075T |
probably damaging |
Het |
| Tmem222 |
T |
A |
4: 132,995,606 (GRCm39) |
H147L |
probably damaging |
Het |
| Tmprss11f |
G |
T |
5: 86,681,636 (GRCm39) |
R206S |
probably damaging |
Het |
| Trappc11 |
G |
A |
8: 47,982,529 (GRCm39) |
T70M |
possibly damaging |
Het |
| Trpv4 |
G |
A |
5: 114,782,887 (GRCm39) |
T25I |
probably benign |
Het |
| Ttr |
T |
C |
18: 20,806,692 (GRCm39) |
V114A |
possibly damaging |
Het |
| Umod |
C |
T |
7: 119,076,520 (GRCm39) |
C82Y |
probably damaging |
Het |
| Upk3a |
T |
A |
15: 84,905,515 (GRCm39) |
M208K |
probably damaging |
Het |
| Vmn1r59 |
G |
A |
7: 5,457,539 (GRCm39) |
P74S |
probably damaging |
Het |
| Zfp236 |
G |
T |
18: 82,675,229 (GRCm39) |
T421K |
possibly damaging |
Het |
| Zswim9 |
C |
A |
7: 12,995,257 (GRCm39) |
G300* |
probably null |
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 |
|
|
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'- TGCTAAGAATGCCTGCTTACT -3'
(R):5'- CTATACAAGCAGGAATGGAAGTCA -3'
Sequencing Primer
(F):5'- GGTCTACATAGCAAGTTCCATGAC -3'
(R):5'- AATGGAAGTCAGTGTCCCCTGATC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation