Incidental Mutation 'R6279:Vwa3a'
ID |
507831 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa3a
|
Ensembl Gene |
ENSMUSG00000030889 |
Gene Name |
von Willebrand factor A domain containing 3A |
Synonyms |
E030013G06Rik |
MMRRC Submission |
044449-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6279 (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 G
at 120381623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 3
(N3S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129672
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033180]
[ENSMUST00000165055]
[ENSMUST00000166668]
[ENSMUST00000167213]
[ENSMUST00000168430]
[ENSMUST00000168600]
|
AlphaFold |
Q3UVV9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033180
AA Change: N543S
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000033180 Gene: ENSMUSG00000030889 AA Change: N543S
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 damaging
Transcript: ENSMUST00000165055
AA Change: N3S
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000129672 Gene: ENSMUSG00000030889 AA Change: N3S
Domain | Start | End | E-Value | Type |
Blast:VWA
|
1 |
162 |
1e-94 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166083
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166668
AA Change: N543S
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000129136 Gene: ENSMUSG00000030889 AA Change: N543S
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: ENSMUST00000167213
AA Change: N543S
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133029 Gene: ENSMUSG00000030889 AA Change: N543S
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 |
possibly damaging
Transcript: ENSMUST00000168600
AA Change: N543S
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000132372 Gene: ENSMUSG00000030889 AA Change: N543S
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 |
0.6964 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
97% (58/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap1s3 |
T |
C |
1: 79,602,840 (GRCm39) |
K56E |
probably damaging |
Het |
Apob |
C |
T |
12: 8,057,769 (GRCm39) |
R2084* |
probably null |
Het |
Arid1b |
C |
A |
17: 5,392,274 (GRCm39) |
L1935M |
probably damaging |
Het |
Bag6 |
T |
C |
17: 35,357,577 (GRCm39) |
V122A |
probably damaging |
Het |
Bmal2 |
A |
G |
6: 146,723,444 (GRCm39) |
Y258C |
probably damaging |
Het |
Cacna1e |
T |
A |
1: 154,301,678 (GRCm39) |
T1685S |
probably benign |
Het |
Cd163 |
T |
A |
6: 124,294,950 (GRCm39) |
C671* |
probably null |
Het |
Cul3 |
A |
G |
1: 80,264,669 (GRCm39) |
V211A |
probably damaging |
Het |
Cyp2d22 |
C |
A |
15: 82,258,169 (GRCm39) |
K150N |
probably damaging |
Het |
Dnah6 |
A |
T |
6: 73,042,798 (GRCm39) |
I3208N |
probably damaging |
Het |
Dnah7b |
T |
C |
1: 46,365,046 (GRCm39) |
F3609S |
probably damaging |
Het |
Endod1 |
T |
C |
9: 14,268,166 (GRCm39) |
T440A |
probably benign |
Het |
Exph5 |
A |
G |
9: 53,285,246 (GRCm39) |
T776A |
possibly damaging |
Het |
Faap24 |
A |
C |
7: 35,095,709 (GRCm39) |
V12G |
possibly damaging |
Het |
Gabrg2 |
T |
C |
11: 41,891,350 (GRCm39) |
|
probably null |
Het |
Ggta1 |
A |
G |
2: 35,298,006 (GRCm39) |
Y148H |
probably damaging |
Het |
Hspe1 |
T |
A |
1: 55,129,860 (GRCm39) |
|
probably null |
Het |
Il12a |
A |
T |
3: 68,605,312 (GRCm39) |
I193F |
probably damaging |
Het |
Il2rb |
T |
C |
15: 78,365,738 (GRCm39) |
N520D |
possibly damaging |
Het |
Kat6a |
A |
G |
8: 23,429,628 (GRCm39) |
Q1661R |
unknown |
Het |
Klhl18 |
T |
A |
9: 110,265,130 (GRCm39) |
N362I |
probably benign |
Het |
Lrba |
A |
G |
3: 86,256,171 (GRCm39) |
D1171G |
probably benign |
Het |
Mef2b |
C |
T |
8: 70,619,769 (GRCm39) |
T285I |
possibly damaging |
Het |
Mmrn2 |
T |
C |
14: 34,119,614 (GRCm39) |
S198P |
probably benign |
Het |
Msh6 |
T |
C |
17: 88,287,677 (GRCm39) |
W106R |
probably damaging |
Het |
Nek5 |
T |
A |
8: 22,597,737 (GRCm39) |
M281L |
probably benign |
Het |
Or10w3 |
A |
G |
19: 13,704,029 (GRCm39) |
I135V |
probably benign |
Het |
Or2y15 |
T |
A |
11: 49,351,039 (GRCm39) |
C178S |
probably damaging |
Het |
Or4c105 |
A |
T |
2: 88,647,719 (GRCm39) |
D68V |
probably damaging |
Het |
Or52e19 |
A |
T |
7: 102,959,636 (GRCm39) |
H236L |
probably benign |
Het |
Or52e7 |
G |
A |
7: 104,684,878 (GRCm39) |
V158M |
probably benign |
Het |
Pcdhgb5 |
T |
A |
18: 37,865,752 (GRCm39) |
F516I |
probably damaging |
Het |
Pde10a |
T |
C |
17: 9,197,789 (GRCm39) |
I1026T |
probably damaging |
Het |
Pde4dip |
A |
C |
3: 97,606,496 (GRCm39) |
L2126R |
probably damaging |
Het |
Pds5b |
T |
A |
5: 150,646,713 (GRCm39) |
N167K |
possibly damaging |
Het |
Pkmyt1 |
C |
T |
17: 23,951,476 (GRCm39) |
P10L |
probably benign |
Het |
Pphln1-ps1 |
T |
C |
16: 13,495,134 (GRCm39) |
S78P |
probably damaging |
Het |
Prr5l |
A |
T |
2: 101,547,765 (GRCm39) |
Y253* |
probably null |
Het |
Rdh9 |
A |
G |
10: 127,612,627 (GRCm39) |
T92A |
probably benign |
Het |
Reln |
A |
G |
5: 22,101,839 (GRCm39) |
Y3364H |
probably damaging |
Het |
Rufy4 |
T |
A |
1: 74,172,383 (GRCm39) |
S369T |
probably benign |
Het |
Ryr1 |
A |
T |
7: 28,786,853 (GRCm39) |
M1587K |
possibly damaging |
Het |
Ryr2 |
T |
A |
13: 11,695,885 (GRCm39) |
H2994L |
probably damaging |
Het |
Safb2 |
T |
C |
17: 56,870,226 (GRCm39) |
H950R |
possibly damaging |
Het |
Sez6 |
T |
C |
11: 77,867,367 (GRCm39) |
V788A |
possibly damaging |
Het |
Sfrp4 |
G |
A |
13: 19,808,023 (GRCm39) |
A141T |
probably damaging |
Het |
Sh3d19 |
A |
T |
3: 86,011,409 (GRCm39) |
I332F |
possibly damaging |
Het |
Skor1 |
A |
T |
9: 63,052,596 (GRCm39) |
W458R |
probably damaging |
Het |
Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
Slc19a2 |
C |
T |
1: 164,084,344 (GRCm39) |
T78M |
probably damaging |
Het |
Slc8a3 |
T |
A |
12: 81,361,752 (GRCm39) |
I356F |
probably damaging |
Het |
Slk |
A |
G |
19: 47,630,443 (GRCm39) |
T1205A |
probably damaging |
Het |
Tcte1 |
T |
C |
17: 45,844,215 (GRCm39) |
S64P |
possibly damaging |
Het |
Tnpo1 |
G |
A |
13: 99,027,216 (GRCm39) |
P25L |
possibly damaging |
Het |
Top3a |
T |
C |
11: 60,640,234 (GRCm39) |
D488G |
probably benign |
Het |
Tshz1 |
A |
T |
18: 84,033,436 (GRCm39) |
V324D |
probably damaging |
Het |
Ttc21a |
T |
C |
9: 119,790,905 (GRCm39) |
S884P |
possibly damaging |
Het |
Usp17lb |
A |
G |
7: 104,489,898 (GRCm39) |
L342P |
probably damaging |
Het |
Zfp672 |
A |
T |
11: 58,208,094 (GRCm39) |
C76S |
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 |
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 |
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'- ACGGAGTTGGCTTTAATGCG -3'
(R):5'- ATAAGACTTGTGAGGGCCAC -3'
Sequencing Primer
(F):5'- GCGTTATGACCAGAAAACCTTGTGAC -3'
(R):5'- GGCCACATTTGAGACCCTGAAG -3'
|
Posted On |
2018-03-15 |