Incidental Mutation 'R7406:Vwa3a'
ID |
574740 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa3a
|
Ensembl Gene |
ENSMUSG00000030889 |
Gene Name |
von Willebrand factor A domain containing 3A |
Synonyms |
E030013G06Rik |
MMRRC Submission |
045487-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7406 (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 A
at 120378138 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 476
(I476N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133029
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033180]
[ENSMUST00000165055]
[ENSMUST00000166668]
[ENSMUST00000167213]
[ENSMUST00000168600]
|
AlphaFold |
Q3UVV9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000033180
AA Change: I476N
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000033180 Gene: ENSMUSG00000030889 AA Change: I476N
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: I476N
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000129136 Gene: ENSMUSG00000030889 AA Change: I476N
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: I476N
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000133029 Gene: ENSMUSG00000030889 AA Change: I476N
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: I476N
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000132372 Gene: ENSMUSG00000030889 AA Change: I476N
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 |
0.7813 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (60/61) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810459M11Rik |
T |
C |
1: 85,974,231 (GRCm39) |
S183P |
possibly damaging |
Het |
2900092C05Rik |
A |
G |
7: 12,249,391 (GRCm39) |
T75A |
possibly damaging |
Het |
Abhd8 |
A |
G |
8: 71,914,406 (GRCm39) |
V74A |
probably benign |
Het |
Agrn |
A |
C |
4: 156,256,758 (GRCm39) |
S1282R |
possibly damaging |
Het |
Atf5 |
T |
C |
7: 44,462,380 (GRCm39) |
N248S |
possibly damaging |
Het |
Atp2a3 |
A |
G |
11: 72,869,576 (GRCm39) |
Y497C |
probably damaging |
Het |
Bpifa2 |
T |
G |
2: 153,851,739 (GRCm39) |
S58R |
probably benign |
Het |
Cacna1h |
C |
T |
17: 25,604,600 (GRCm39) |
E1238K |
possibly damaging |
Het |
Ccdc71 |
T |
A |
9: 108,340,523 (GRCm39) |
L112* |
probably null |
Het |
Cd300e |
A |
T |
11: 114,946,128 (GRCm39) |
I111N |
probably damaging |
Het |
Cdkl3 |
A |
T |
11: 51,924,369 (GRCm39) |
E552D |
probably benign |
Het |
Chst5 |
A |
G |
8: 112,617,245 (GRCm39) |
V125A |
probably benign |
Het |
Clock |
A |
T |
5: 76,414,692 (GRCm39) |
M1K |
probably null |
Het |
Cops7b |
T |
A |
1: 86,528,852 (GRCm39) |
L193Q |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,338,707 (GRCm39) |
T467A |
probably damaging |
Het |
Ctr9 |
A |
G |
7: 110,652,615 (GRCm39) |
E971G |
unknown |
Het |
Dcp2 |
A |
G |
18: 44,543,254 (GRCm39) |
T271A |
probably benign |
Het |
Dsp |
A |
G |
13: 38,381,172 (GRCm39) |
N2639S |
possibly damaging |
Het |
Fhip1a |
T |
C |
3: 85,637,784 (GRCm39) |
I172V |
probably benign |
Het |
Gm11168 |
C |
G |
9: 3,006,912 (GRCm39) |
C212W |
probably benign |
Het |
Gpr179 |
G |
T |
11: 97,242,420 (GRCm39) |
D141E |
probably damaging |
Het |
H2bc4 |
A |
G |
13: 23,868,342 (GRCm39) |
Y43C |
probably damaging |
Het |
Hdhd2 |
C |
T |
18: 77,031,811 (GRCm39) |
T89M |
probably benign |
Het |
Krt6b |
T |
G |
15: 101,587,513 (GRCm39) |
T194P |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,266,030 (GRCm39) |
|
probably null |
Het |
Maneal |
A |
T |
4: 124,754,161 (GRCm39) |
I214N |
possibly damaging |
Het |
Map1lc3b |
T |
A |
8: 122,317,355 (GRCm39) |
C11S |
unknown |
Het |
Mapt |
G |
A |
11: 104,213,350 (GRCm39) |
G296E |
possibly damaging |
Het |
Mgam |
A |
G |
6: 40,640,459 (GRCm39) |
N509S |
probably benign |
Het |
Mrgprx1 |
T |
A |
7: 47,671,733 (GRCm39) |
I5F |
possibly damaging |
Het |
Mroh5 |
T |
C |
15: 73,659,583 (GRCm39) |
D416G |
probably benign |
Het |
Ncan |
T |
G |
8: 70,562,749 (GRCm39) |
D503A |
probably benign |
Het |
Nedd1 |
A |
T |
10: 92,547,185 (GRCm39) |
|
probably null |
Het |
Ogdh |
A |
G |
11: 6,298,351 (GRCm39) |
T641A |
probably benign |
Het |
Or2b6 |
T |
C |
13: 21,823,316 (GRCm39) |
I126V |
probably benign |
Het |
Or4k2 |
T |
A |
14: 50,424,015 (GRCm39) |
I221F |
probably damaging |
Het |
Or6c219 |
A |
T |
10: 129,781,435 (GRCm39) |
D50E |
probably benign |
Het |
Or8b1b |
T |
A |
9: 38,375,439 (GRCm39) |
M34K |
possibly damaging |
Het |
Pcdhga8 |
A |
C |
18: 37,859,238 (GRCm39) |
Q98P |
possibly damaging |
Het |
Pik3c2a |
A |
G |
7: 115,953,242 (GRCm39) |
Y1218H |
probably damaging |
Het |
Ppp3cc |
A |
T |
14: 70,483,387 (GRCm39) |
S229T |
possibly damaging |
Het |
Prss43 |
T |
G |
9: 110,657,764 (GRCm39) |
I221S |
probably damaging |
Het |
Rasal1 |
A |
T |
5: 120,801,002 (GRCm39) |
T221S |
probably benign |
Het |
Serpinb9f |
G |
T |
13: 33,518,543 (GRCm39) |
E348* |
probably null |
Het |
Sfxn5 |
A |
G |
6: 85,244,889 (GRCm39) |
Y169H |
probably damaging |
Het |
Skint9 |
T |
C |
4: 112,246,428 (GRCm39) |
N228S |
probably benign |
Het |
Slx4ip |
A |
T |
2: 136,842,162 (GRCm39) |
D29V |
probably damaging |
Het |
Snx29 |
G |
T |
16: 11,573,180 (GRCm39) |
G474V |
probably damaging |
Het |
Spata6 |
T |
A |
4: 111,638,017 (GRCm39) |
D282E |
possibly damaging |
Het |
Srek1 |
A |
T |
13: 103,905,890 (GRCm39) |
V77E |
probably damaging |
Het |
Timd6 |
A |
G |
11: 46,468,285 (GRCm39) |
T120A |
possibly damaging |
Het |
Tmt1a3 |
T |
C |
15: 100,233,289 (GRCm39) |
V160A |
probably benign |
Het |
Tnfrsf22 |
T |
C |
7: 143,194,564 (GRCm39) |
D121G |
probably damaging |
Het |
Ucma |
G |
A |
2: 4,990,170 (GRCm39) |
W122* |
probably null |
Het |
Vmn2r124 |
T |
C |
17: 18,282,306 (GRCm39) |
M113T |
unknown |
Het |
Vmn2r54 |
A |
T |
7: 12,350,150 (GRCm39) |
|
probably null |
Het |
Vmn2r8 |
A |
G |
5: 108,948,442 (GRCm39) |
L482S |
probably benign |
Het |
Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
Wdr26 |
A |
T |
1: 181,015,240 (GRCm39) |
S390R |
probably damaging |
Het |
Zbtb40 |
A |
T |
4: 136,728,205 (GRCm39) |
S471T |
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 |
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'- AATGGACTTGCATCTTCCCTAAC -3'
(R):5'- TCTGTTGCTTCTAACTCAAAGAGTC -3'
Sequencing Primer
(F):5'- CCTGTATAAACCATTTCCAGAAGCTG -3'
(R):5'- GCTTCTAACTCAAAGAGTCTTGAGAG -3'
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Posted On |
2019-10-07 |