Incidental Mutation 'R2120:Vwa3a'
ID |
231378 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa3a
|
Ensembl Gene |
ENSMUSG00000030889 |
Gene Name |
von Willebrand factor A domain containing 3A |
Synonyms |
E030013G06Rik |
MMRRC Submission |
040124-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2120 (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 120391641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 776
(T776A)
|
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: T776A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000033180 Gene: ENSMUSG00000030889 AA Change: T776A
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 |
unknown
Transcript: ENSMUST00000166083
AA Change: T94A
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166668
AA Change: T776A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129136 Gene: ENSMUSG00000030889 AA Change: T776A
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: T776A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000133029 Gene: ENSMUSG00000030889 AA Change: T776A
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 |
0.0727 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (86/86) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,259,013 (GRCm39) |
|
probably benign |
Het |
Abcg5 |
T |
A |
17: 84,978,575 (GRCm39) |
E294D |
probably benign |
Het |
Actrt2 |
C |
T |
4: 154,751,551 (GRCm39) |
R195Q |
probably benign |
Het |
Adamts12 |
C |
T |
15: 11,310,665 (GRCm39) |
T974I |
probably damaging |
Het |
Ankrd65 |
A |
G |
4: 155,876,530 (GRCm39) |
T239A |
probably benign |
Het |
Ano7 |
G |
T |
1: 93,329,855 (GRCm39) |
|
probably benign |
Het |
Apc |
A |
T |
18: 34,409,654 (GRCm39) |
E198V |
probably damaging |
Het |
Arhgef10 |
A |
G |
8: 14,984,820 (GRCm39) |
D200G |
probably damaging |
Het |
Atp9a |
A |
T |
2: 168,495,457 (GRCm39) |
V583E |
probably damaging |
Het |
Bicral |
C |
T |
17: 47,135,741 (GRCm39) |
A490T |
probably benign |
Het |
C1rl |
C |
T |
6: 124,485,672 (GRCm39) |
P348S |
probably damaging |
Het |
Cog1 |
T |
C |
11: 113,540,424 (GRCm39) |
L13P |
probably damaging |
Het |
Cx3cr1 |
T |
A |
9: 119,880,749 (GRCm39) |
T218S |
probably damaging |
Het |
Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
E2f4 |
A |
G |
8: 106,026,973 (GRCm39) |
Y179C |
probably damaging |
Het |
Ecel1 |
A |
G |
1: 87,075,997 (GRCm39) |
S727P |
probably damaging |
Het |
Endod1 |
T |
C |
9: 14,268,949 (GRCm39) |
N179D |
probably benign |
Het |
Epc2 |
C |
T |
2: 49,437,621 (GRCm39) |
|
probably benign |
Het |
Ets2 |
G |
T |
16: 95,519,977 (GRCm39) |
R401L |
probably benign |
Het |
Fgd4 |
C |
T |
16: 16,243,692 (GRCm39) |
C614Y |
probably benign |
Het |
Fgf18 |
A |
C |
11: 33,068,003 (GRCm39) |
F129C |
probably damaging |
Het |
Frem3 |
A |
T |
8: 81,342,086 (GRCm39) |
T1460S |
probably benign |
Het |
H2-M1 |
T |
G |
17: 36,980,929 (GRCm39) |
T336P |
possibly damaging |
Het |
Ikbkb |
T |
C |
8: 23,157,233 (GRCm39) |
|
probably benign |
Het |
Ipo7 |
G |
T |
7: 109,648,838 (GRCm39) |
D704Y |
probably damaging |
Het |
Jaml |
T |
A |
9: 45,012,362 (GRCm39) |
I283N |
probably damaging |
Het |
Jarid2 |
G |
T |
13: 45,059,812 (GRCm39) |
M681I |
probably benign |
Het |
Kif4-ps |
T |
C |
12: 101,113,956 (GRCm39) |
L695P |
probably damaging |
Het |
Kmt2d |
A |
G |
15: 98,737,410 (GRCm39) |
|
probably benign |
Het |
Krt25 |
T |
C |
11: 99,212,023 (GRCm39) |
T205A |
probably benign |
Het |
Lif |
T |
C |
11: 4,219,051 (GRCm39) |
V110A |
possibly damaging |
Het |
Ltbp1 |
T |
A |
17: 75,617,154 (GRCm39) |
V1031E |
possibly damaging |
Het |
Ltbr |
A |
G |
6: 125,286,440 (GRCm39) |
S249P |
probably benign |
Het |
Man2b1 |
A |
G |
8: 85,819,653 (GRCm39) |
|
probably benign |
Het |
Med16 |
A |
T |
10: 79,738,916 (GRCm39) |
M290K |
possibly damaging |
Het |
Mov10l1 |
C |
A |
15: 88,891,830 (GRCm39) |
Q562K |
probably benign |
Het |
Msantd2 |
C |
T |
9: 37,434,227 (GRCm39) |
R357W |
probably damaging |
Het |
Mtcl2 |
T |
C |
2: 156,875,245 (GRCm39) |
E835G |
probably damaging |
Het |
Mtmr6 |
T |
C |
14: 60,534,108 (GRCm39) |
F449L |
probably damaging |
Het |
Myt1l |
A |
T |
12: 29,833,618 (GRCm39) |
|
probably null |
Het |
Neb |
A |
G |
2: 52,154,076 (GRCm39) |
F2345S |
probably damaging |
Het |
Nlrp6 |
T |
C |
7: 140,506,357 (GRCm39) |
V766A |
probably benign |
Het |
Or11g27 |
T |
C |
14: 50,771,403 (GRCm39) |
I178T |
probably damaging |
Het |
Or4k36 |
A |
G |
2: 111,145,844 (GRCm39) |
T7A |
probably benign |
Het |
Or6d13 |
A |
T |
6: 116,517,416 (GRCm39) |
M1L |
probably null |
Het |
Or8k22 |
G |
A |
2: 86,163,689 (GRCm39) |
R4C |
probably benign |
Het |
Patj |
T |
A |
4: 98,344,462 (GRCm39) |
D591E |
probably benign |
Het |
Pde6d |
A |
G |
1: 86,473,524 (GRCm39) |
F91L |
probably benign |
Het |
Pitpnm2 |
G |
A |
5: 124,265,332 (GRCm39) |
P757L |
probably damaging |
Het |
Plcd4 |
A |
G |
1: 74,603,584 (GRCm39) |
T662A |
probably benign |
Het |
Podn |
C |
T |
4: 107,880,558 (GRCm39) |
A31T |
probably damaging |
Het |
Prss37 |
G |
A |
6: 40,492,294 (GRCm39) |
R186* |
probably null |
Het |
Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,006,422 (GRCm39) |
S263T |
possibly damaging |
Het |
Pum1 |
C |
A |
4: 130,396,581 (GRCm39) |
T112K |
possibly damaging |
Het |
Rab3gap2 |
A |
T |
1: 184,993,564 (GRCm39) |
D782V |
possibly damaging |
Het |
Rasgrp2 |
T |
A |
19: 6,454,425 (GRCm39) |
M156K |
probably benign |
Het |
Reln |
G |
A |
5: 22,174,083 (GRCm39) |
H2007Y |
probably damaging |
Het |
Rhbdl2 |
T |
A |
4: 123,718,712 (GRCm39) |
I222K |
probably damaging |
Het |
Rimbp2 |
A |
G |
5: 128,865,582 (GRCm39) |
S582P |
probably damaging |
Het |
Rpe |
T |
C |
1: 66,754,387 (GRCm39) |
M153T |
probably damaging |
Het |
Sars1 |
T |
C |
3: 108,341,472 (GRCm39) |
I114V |
probably benign |
Het |
Scamp5 |
C |
A |
9: 57,354,508 (GRCm39) |
V49F |
possibly damaging |
Het |
Sec14l1 |
C |
T |
11: 117,039,358 (GRCm39) |
|
probably benign |
Het |
Serpinb8 |
A |
G |
1: 107,533,617 (GRCm39) |
E224G |
probably damaging |
Het |
Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
Slco6c1 |
C |
T |
1: 96,993,808 (GRCm39) |
R645H |
possibly damaging |
Het |
Srgn |
T |
A |
10: 62,343,413 (GRCm39) |
|
probably benign |
Het |
Stk40 |
C |
T |
4: 126,022,640 (GRCm39) |
T138I |
probably benign |
Het |
Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
Tada3 |
T |
C |
6: 113,347,976 (GRCm39) |
I263V |
possibly damaging |
Het |
Tas2r106 |
A |
T |
6: 131,655,317 (GRCm39) |
L178H |
probably damaging |
Het |
Tas2r115 |
T |
A |
6: 132,714,470 (GRCm39) |
R160S |
possibly damaging |
Het |
Trak1 |
T |
A |
9: 121,302,063 (GRCm39) |
*940R |
probably null |
Het |
Trp53bp2 |
A |
G |
1: 182,269,204 (GRCm39) |
M223V |
probably benign |
Het |
Ttc21b |
C |
T |
2: 66,057,098 (GRCm39) |
V625I |
probably benign |
Het |
Txnrd1 |
T |
A |
10: 82,723,067 (GRCm39) |
C421S |
possibly damaging |
Het |
Unc45a |
T |
C |
7: 79,989,846 (GRCm39) |
T8A |
probably benign |
Het |
Usp6nl |
T |
A |
2: 6,445,748 (GRCm39) |
V552E |
probably damaging |
Het |
Vmn2r115 |
T |
G |
17: 23,578,297 (GRCm39) |
L590R |
probably damaging |
Het |
Vmn2r88 |
A |
T |
14: 51,650,665 (GRCm39) |
H126L |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,826,616 (GRCm39) |
D1419G |
possibly damaging |
Het |
Zfp580 |
T |
C |
7: 5,056,008 (GRCm39) |
Y123H |
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 |
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 |
|
|
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'- AGCTTTCACTGGTCCAGACG -3'
(R):5'- GATCATTTCTTTGGCTGGGAGAAC -3'
Sequencing Primer
(F):5'- GCCAAGGCACCTGAGATG -3'
(R):5'- CTGGGAGAACTTTAAGGATGGGCC -3'
|
Posted On |
2014-09-18 |