Incidental Mutation 'R5587:Vwa3a'
| ID |
438820 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3a
|
| Ensembl Gene |
ENSMUSG00000030889 |
| Gene Name |
von Willebrand factor A domain containing 3A |
| Synonyms |
E030013G06Rik |
| MMRRC Submission |
043141-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5587 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
120338541-120404965 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120379458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 521
(N521S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033180]
[ENSMUST00000165055]
[ENSMUST00000166668]
[ENSMUST00000167213]
[ENSMUST00000168430]
[ENSMUST00000168600]
|
| AlphaFold |
Q3UVV9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033180
AA Change: N521S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: N521S
| 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: N521S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: N521S
| 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: N521S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: N521S
| 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 damaging
Transcript: ENSMUST00000168600
AA Change: N521S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889
AA Change: N521S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:VWA_3
|
142 |
297 |
8.3e-29 |
PFAM |
|
Pfam:VWA_3
|
483 |
609 |
5.3e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207721
|
| Meta Mutation Damage Score |
0.7141 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
96% (78/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,771,170 (GRCm39) |
R120G |
probably benign |
Het |
| Acad11 |
A |
G |
9: 103,940,966 (GRCm39) |
T3A |
probably benign |
Het |
| Adamts18 |
G |
A |
8: 114,501,992 (GRCm39) |
Q290* |
probably null |
Het |
| Ahnak |
A |
G |
19: 8,986,840 (GRCm39) |
D2708G |
possibly damaging |
Het |
| Asxl3 |
T |
A |
18: 22,658,304 (GRCm39) |
C2105S |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,672,281 (GRCm39) |
F1028I |
probably damaging |
Het |
| Axdnd1 |
C |
G |
1: 156,178,982 (GRCm39) |
W615C |
probably damaging |
Het |
| Bcl3 |
A |
T |
7: 19,543,559 (GRCm39) |
Y10* |
probably null |
Het |
| Bmp2 |
T |
A |
2: 133,396,566 (GRCm39) |
V74E |
possibly damaging |
Het |
| Ccdc121 |
G |
T |
5: 31,643,428 (GRCm39) |
G53W |
probably benign |
Het |
| Ccdc78 |
C |
A |
17: 26,005,651 (GRCm39) |
P21Q |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,733,348 (GRCm39) |
V199E |
probably damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,894,552 (GRCm39) |
E1120G |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,540,531 (GRCm39) |
W1330R |
unknown |
Het |
| Coq4 |
A |
G |
2: 29,685,526 (GRCm39) |
|
probably null |
Het |
| Cwf19l1 |
G |
A |
19: 44,109,316 (GRCm39) |
T346I |
possibly damaging |
Het |
| Cyct |
T |
C |
2: 76,184,547 (GRCm39) |
Y68C |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,870,977 (GRCm39) |
L2368P |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,328,068 (GRCm39) |
F3346I |
probably damaging |
Het |
| Dpp3 |
A |
T |
19: 4,968,295 (GRCm39) |
V259E |
probably damaging |
Het |
| Dpyd |
A |
C |
3: 118,858,600 (GRCm39) |
S605R |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,089,459 (GRCm39) |
E209G |
probably damaging |
Het |
| Esrra |
A |
G |
19: 6,897,575 (GRCm39) |
S61P |
probably benign |
Het |
| Garin2 |
C |
A |
12: 78,761,849 (GRCm39) |
P171H |
probably damaging |
Het |
| Gbx2 |
T |
A |
1: 89,860,844 (GRCm39) |
|
probably benign |
Het |
| Hepacam |
A |
G |
9: 37,295,980 (GRCm39) |
H377R |
probably damaging |
Het |
| Igkv12-46 |
T |
C |
6: 69,741,534 (GRCm39) |
Y107C |
probably damaging |
Het |
| Intu |
A |
G |
3: 40,629,738 (GRCm39) |
D356G |
probably damaging |
Het |
| Izumo4 |
A |
T |
10: 80,539,054 (GRCm39) |
N113Y |
probably damaging |
Het |
| Krt86 |
G |
A |
15: 101,371,474 (GRCm39) |
A15T |
probably benign |
Het |
| Lhx8 |
A |
T |
3: 154,017,316 (GRCm39) |
S275R |
probably damaging |
Het |
| Lingo3 |
A |
T |
10: 80,671,364 (GRCm39) |
S189T |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,601,168 (GRCm39) |
M702K |
probably benign |
Het |
| Lpin1 |
T |
C |
12: 16,623,715 (GRCm39) |
Y223C |
|
Het |
| Lrit3 |
G |
T |
3: 129,582,547 (GRCm39) |
A359E |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,329,607 (GRCm39) |
E1720G |
probably benign |
Het |
| Mcub |
A |
C |
3: 129,710,619 (GRCm39) |
V271G |
probably benign |
Het |
| Nktr |
C |
T |
9: 121,577,555 (GRCm39) |
|
probably benign |
Het |
| Or10g9 |
A |
T |
9: 39,911,917 (GRCm39) |
I202N |
possibly damaging |
Het |
| Or13p4 |
T |
A |
4: 118,547,067 (GRCm39) |
D194V |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,624,633 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or4d5 |
A |
T |
9: 40,012,540 (GRCm39) |
L82Q |
probably damaging |
Het |
| Or52z12 |
T |
A |
7: 103,233,738 (GRCm39) |
Y170N |
probably benign |
Het |
| Or9i1 |
G |
A |
19: 13,839,940 (GRCm39) |
R261H |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,087,875 (GRCm39) |
V686A |
probably benign |
Het |
| Pelo |
A |
G |
13: 115,226,409 (GRCm39) |
V16A |
possibly damaging |
Het |
| Plcd1 |
A |
G |
9: 118,902,900 (GRCm39) |
S539P |
probably benign |
Het |
| Prss1 |
A |
G |
6: 41,440,199 (GRCm39) |
I179V |
possibly damaging |
Het |
| Ptgs2 |
T |
C |
1: 149,981,306 (GRCm39) |
Y530H |
probably damaging |
Het |
| Rai1 |
T |
C |
11: 60,080,685 (GRCm39) |
V1583A |
probably damaging |
Het |
| Raph1 |
T |
G |
1: 60,537,632 (GRCm39) |
D508A |
probably damaging |
Het |
| Rmnd5a |
A |
G |
6: 71,371,603 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,311,328 (GRCm39) |
L686P |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,373,291 (GRCm39) |
I1323M |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,103,425 (GRCm39) |
N1934S |
probably benign |
Het |
| Sec23ip |
C |
T |
7: 128,352,151 (GRCm39) |
H176Y |
probably benign |
Het |
| Sh3glb2 |
A |
G |
2: 30,244,863 (GRCm39) |
|
probably null |
Het |
| Sis |
A |
G |
3: 72,821,909 (GRCm39) |
I1384T |
possibly damaging |
Het |
| Spata31d1a |
A |
C |
13: 59,850,432 (GRCm39) |
C565W |
probably damaging |
Het |
| Srbd1 |
T |
A |
17: 86,435,229 (GRCm39) |
Q278L |
probably damaging |
Het |
| Sry |
T |
C |
Y: 2,662,625 (GRCm39) |
H345R |
unknown |
Het |
| Suox |
A |
T |
10: 128,507,694 (GRCm39) |
D111E |
probably damaging |
Het |
| Taar7a |
A |
T |
10: 23,868,726 (GRCm39) |
F218L |
probably benign |
Het |
| Tfcp2l1 |
C |
A |
1: 118,592,492 (GRCm39) |
N288K |
possibly damaging |
Het |
| Tmem128 |
G |
T |
5: 38,417,765 (GRCm39) |
R7L |
possibly damaging |
Het |
| Tmem266 |
A |
G |
9: 55,344,850 (GRCm39) |
N494S |
probably damaging |
Het |
| Tmprss3 |
T |
A |
17: 31,412,966 (GRCm39) |
H80L |
probably benign |
Het |
| Tnrc6c |
C |
T |
11: 117,640,097 (GRCm39) |
Q1211* |
probably null |
Het |
| Tns1 |
T |
A |
1: 73,959,755 (GRCm39) |
D1671V |
possibly damaging |
Het |
| Trmt1l |
T |
A |
1: 151,311,455 (GRCm39) |
|
probably benign |
Het |
| Tshz2 |
A |
T |
2: 169,726,262 (GRCm39) |
D286V |
probably damaging |
Het |
| Ttyh2 |
A |
G |
11: 114,566,485 (GRCm39) |
E39G |
probably benign |
Het |
| Vmn2r125 |
G |
A |
4: 156,702,433 (GRCm39) |
C73Y |
probably damaging |
Het |
| Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
| Vmn2r61 |
T |
C |
7: 41,949,911 (GRCm39) |
F777S |
probably damaging |
Het |
| Vmn2r9 |
T |
C |
5: 108,995,427 (GRCm39) |
E407G |
probably damaging |
Het |
| Zan |
C |
G |
5: 137,390,024 (GRCm39) |
S4816T |
unknown |
Het |
| Zc3h7b |
T |
C |
15: 81,656,059 (GRCm39) |
Y136H |
possibly damaging |
Het |
| Zfp101 |
T |
C |
17: 33,600,295 (GRCm39) |
K487R |
possibly 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 |
|
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 |
|
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'- CACAGAGATTCTTGGCCGTC -3'
(R):5'- AGCCATTCAATTATTCAAGGCCC -3'
Sequencing Primer
(F):5'- CCGTCTATGAGTTTGGCTAGCAAAAG -3'
(R):5'- TTCAATTATTCAAGGCCCCAAAC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation