Incidental Mutation 'R4628:Vwa3a'
ID |
348953 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa3a
|
Ensembl Gene |
ENSMUSG00000030889 |
Gene Name |
von Willebrand factor A domain containing 3A |
Synonyms |
E030013G06Rik |
MMRRC Submission |
041893-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4628 (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: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
G |
T |
10: 79,851,022 (GRCm39) |
|
probably null |
Het |
Abcb4 |
A |
G |
5: 8,957,399 (GRCm39) |
D176G |
probably benign |
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 |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Ankrd12 |
T |
C |
17: 66,292,989 (GRCm39) |
T815A |
probably benign |
Het |
Arid3a |
T |
C |
10: 79,766,992 (GRCm39) |
S89P |
possibly damaging |
Het |
Ass1 |
A |
T |
2: 31,371,000 (GRCm39) |
D63V |
probably damaging |
Het |
Atxn3 |
T |
A |
12: 101,889,337 (GRCm39) |
|
probably benign |
Het |
Bcap29 |
C |
T |
12: 31,676,806 (GRCm39) |
S88N |
probably benign |
Het |
Bsn |
G |
T |
9: 107,990,434 (GRCm39) |
P1773T |
probably damaging |
Het |
Ccdc141 |
A |
G |
2: 76,890,024 (GRCm39) |
S423P |
probably benign |
Het |
Cfap46 |
A |
T |
7: 139,260,843 (GRCm39) |
L85Q |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,444,372 (GRCm39) |
R438G |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,710,091 (GRCm39) |
M289K |
probably benign |
Het |
Col14a1 |
T |
A |
15: 55,313,229 (GRCm39) |
Y26* |
probably null |
Het |
Colec10 |
A |
G |
15: 54,323,127 (GRCm39) |
T117A |
possibly damaging |
Het |
Colq |
C |
A |
14: 31,265,979 (GRCm39) |
G178V |
probably damaging |
Het |
Defb3 |
A |
T |
8: 19,345,156 (GRCm39) |
R37S |
probably benign |
Het |
Duox1 |
A |
G |
2: 122,176,733 (GRCm39) |
Y1418C |
probably damaging |
Het |
Engase |
C |
T |
11: 118,375,731 (GRCm39) |
S33F |
probably damaging |
Het |
Erich3 |
A |
T |
3: 154,469,324 (GRCm39) |
T1259S |
probably damaging |
Het |
Fam98c |
T |
C |
7: 28,854,693 (GRCm39) |
T49A |
possibly damaging |
Het |
Fhod3 |
T |
A |
18: 25,253,186 (GRCm39) |
F1379I |
possibly damaging |
Het |
Fndc3b |
T |
C |
3: 27,610,277 (GRCm39) |
I86V |
probably benign |
Het |
Gm1123 |
A |
G |
9: 98,896,289 (GRCm39) |
V197A |
probably damaging |
Het |
Gm4847 |
A |
T |
1: 166,457,964 (GRCm39) |
V463E |
probably damaging |
Het |
Gm9772 |
T |
C |
17: 22,226,188 (GRCm39) |
K32R |
probably damaging |
Het |
Gm9804 |
T |
C |
12: 49,448,540 (GRCm39) |
S161P |
unknown |
Het |
Gpr162 |
C |
T |
6: 124,838,405 (GRCm39) |
D82N |
probably benign |
Het |
Grid2ip |
T |
C |
5: 143,368,630 (GRCm39) |
V650A |
probably damaging |
Het |
Hs1bp3 |
T |
C |
12: 8,386,357 (GRCm39) |
V253A |
probably benign |
Het |
Hsd3b6 |
T |
G |
3: 98,713,895 (GRCm39) |
K135Q |
possibly damaging |
Het |
Igfn1 |
T |
C |
1: 135,887,468 (GRCm39) |
D2532G |
possibly damaging |
Het |
Iqgap2 |
A |
G |
13: 95,899,837 (GRCm39) |
Y74H |
probably benign |
Het |
Itga2 |
A |
G |
13: 115,014,229 (GRCm39) |
V233A |
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 |
Lcmt1 |
T |
A |
7: 123,010,035 (GRCm39) |
C183* |
probably null |
Het |
Lcn5 |
A |
G |
2: 25,548,075 (GRCm39) |
E28G |
possibly damaging |
Het |
Leo1 |
A |
T |
9: 75,352,979 (GRCm39) |
D174V |
probably damaging |
Het |
Llgl1 |
A |
T |
11: 60,600,811 (GRCm39) |
T636S |
probably damaging |
Het |
Lrrc8e |
T |
A |
8: 4,283,981 (GRCm39) |
C69S |
probably damaging |
Het |
Maml3 |
A |
T |
3: 51,703,891 (GRCm39) |
|
probably benign |
Het |
Maz |
G |
T |
7: 126,624,519 (GRCm39) |
H334N |
possibly damaging |
Het |
Mcm6 |
T |
C |
1: 128,279,285 (GRCm39) |
D167G |
probably benign |
Het |
Mrpl24 |
A |
C |
3: 87,829,436 (GRCm39) |
|
probably null |
Het |
Myo18a |
G |
A |
11: 77,714,962 (GRCm39) |
V834M |
probably damaging |
Het |
Neb |
T |
A |
2: 52,198,362 (GRCm39) |
R461* |
probably null |
Het |
Notch4 |
C |
A |
17: 34,789,159 (GRCm39) |
T486N |
probably damaging |
Het |
Nphp3 |
A |
G |
9: 103,880,257 (GRCm39) |
E93G |
probably damaging |
Het |
Nup188 |
A |
G |
2: 30,219,358 (GRCm39) |
Y858C |
probably damaging |
Het |
Or13a17 |
T |
A |
7: 140,271,291 (GRCm39) |
S158T |
probably benign |
Het |
Or13a28 |
C |
T |
7: 140,218,297 (GRCm39) |
R228C |
probably benign |
Het |
Or1j11 |
T |
A |
2: 36,311,869 (GRCm39) |
L153* |
probably null |
Het |
Otud4 |
T |
A |
8: 80,366,597 (GRCm39) |
D21E |
possibly damaging |
Het |
Ovgp1 |
T |
A |
3: 105,887,639 (GRCm39) |
|
probably null |
Het |
Pdia3 |
A |
T |
2: 121,244,620 (GRCm39) |
N11I |
possibly damaging |
Het |
Pex5 |
T |
C |
6: 124,380,079 (GRCm39) |
D286G |
possibly damaging |
Het |
Pias3 |
T |
C |
3: 96,607,136 (GRCm39) |
I133T |
probably damaging |
Het |
Postn |
A |
G |
3: 54,279,578 (GRCm39) |
D352G |
probably damaging |
Het |
Prl7c1 |
T |
C |
13: 27,962,065 (GRCm39) |
R81G |
probably benign |
Het |
Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
Rtraf |
T |
A |
14: 19,867,155 (GRCm39) |
N116I |
probably benign |
Het |
Semp2l2a |
T |
A |
8: 13,886,625 (GRCm39) |
R489W |
probably damaging |
Het |
Slc6a12 |
T |
A |
6: 121,328,951 (GRCm39) |
C50* |
probably null |
Het |
Spring1 |
G |
C |
5: 118,397,479 (GRCm39) |
A154P |
probably damaging |
Het |
Srcin1 |
T |
A |
11: 97,439,752 (GRCm39) |
H126L |
probably benign |
Het |
Tmtc2 |
A |
T |
10: 105,139,511 (GRCm39) |
S672T |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Ube2c |
A |
G |
2: 164,614,093 (GRCm39) |
N143S |
possibly damaging |
Het |
Uroc1 |
A |
T |
6: 90,332,310 (GRCm39) |
I556F |
probably damaging |
Het |
Vmn1r124 |
T |
A |
7: 20,994,302 (GRCm39) |
K81* |
probably null |
Het |
Vmn1r57 |
T |
A |
7: 5,223,972 (GRCm39) |
C166S |
probably damaging |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r68 |
A |
G |
7: 84,883,673 (GRCm39) |
V144A |
probably benign |
Het |
Vmn2r85 |
C |
T |
10: 130,261,235 (GRCm39) |
M367I |
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,824,515 (GRCm39) |
N1301K |
probably damaging |
Het |
Zfhx4 |
G |
A |
3: 5,468,536 (GRCm39) |
R2898H |
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 |
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 |
|
|
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'- GACTCCTTGCTAAATGGAGAATG -3'
(R):5'- CAGTAAGCAGGCATTCTTAGC -3'
Sequencing Primer
(F):5'- CTCCTTGCTAAATGGAGAATGGGAAC -3'
(R):5'- AAGCAGGCATTCTTAGCATGTTTGTC -3'
|
Posted On |
2015-10-08 |