Incidental Mutation 'R7823:Vwa3a'
| ID |
602005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3a
|
| Ensembl Gene |
ENSMUSG00000030889 |
| Gene Name |
von Willebrand factor A domain containing 3A |
| Synonyms |
E030013G06Rik |
| MMRRC Submission |
045877-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7823 (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 C
at 120372185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 254
(S254P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033180]
[ENSMUST00000166668]
[ENSMUST00000167213]
[ENSMUST00000168600]
|
| AlphaFold |
Q3UVV9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033180
AA Change: S254P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: S254P
| 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: ENSMUST00000166668
AA Change: S254P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: S254P
| 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: S254P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: S254P
| 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: ENSMUST00000168600
AA Change: S254P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889
AA Change: S254P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (68/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
G |
14: 118,771,484 (GRCm39) |
V869A |
probably benign |
Het |
| Alox15 |
C |
A |
11: 70,235,494 (GRCm39) |
V623L |
possibly damaging |
Het |
| Angpt4 |
T |
G |
2: 151,753,286 (GRCm39) |
L12R |
unknown |
Het |
| Cdh24 |
C |
T |
14: 54,874,875 (GRCm39) |
A42T |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,807,336 (GRCm39) |
S234T |
possibly damaging |
Het |
| Clnk |
T |
A |
5: 38,907,694 (GRCm39) |
Y188F |
probably benign |
Het |
| Csmd2 |
A |
T |
4: 128,103,698 (GRCm39) |
T306S |
|
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Dgka |
T |
A |
10: 128,572,135 (GRCm39) |
Y50F |
probably benign |
Het |
| Dgkh |
C |
T |
14: 78,841,921 (GRCm39) |
V434I |
probably benign |
Het |
| Epb41 |
A |
G |
4: 131,701,993 (GRCm39) |
|
probably null |
Het |
| Fam220a |
A |
G |
5: 143,549,011 (GRCm39) |
D141G |
probably damaging |
Het |
| Fbxo11 |
A |
G |
17: 88,300,610 (GRCm39) |
L807S |
probably damaging |
Het |
| G530012D18Rik |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Ggt1 |
G |
A |
10: 75,410,175 (GRCm39) |
V36M |
possibly damaging |
Het |
| Gjb2 |
T |
C |
14: 57,337,963 (GRCm39) |
I82V |
probably benign |
Het |
| Gm7579 |
T |
A |
7: 141,766,307 (GRCm39) |
C238S |
unknown |
Het |
| Hps1 |
G |
A |
19: 42,744,146 (GRCm39) |
T681M |
possibly damaging |
Het |
| Iqck |
T |
C |
7: 118,472,046 (GRCm39) |
Y64H |
probably damaging |
Het |
| Ldlr |
G |
A |
9: 21,653,602 (GRCm39) |
|
probably null |
Het |
| Macc1 |
A |
C |
12: 119,410,800 (GRCm39) |
K523Q |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,868,559 (GRCm39) |
I498N |
probably damaging |
Het |
| Mphosph9 |
T |
C |
5: 124,442,319 (GRCm39) |
E373G |
probably damaging |
Het |
| Mthfr |
T |
C |
4: 148,135,944 (GRCm39) |
I314T |
probably benign |
Het |
| Mtmr4 |
T |
G |
11: 87,503,015 (GRCm39) |
I1023S |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,719,233 (GRCm39) |
F507I |
probably damaging |
Het |
| Nlrp10 |
T |
A |
7: 108,523,468 (GRCm39) |
M671L |
probably benign |
Het |
| Nt5c1a |
T |
C |
4: 123,102,365 (GRCm39) |
V97A |
probably damaging |
Het |
| Nxpe5 |
A |
G |
5: 138,237,844 (GRCm39) |
R123G |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,998,766 (GRCm39) |
S1369G |
probably damaging |
Het |
| Oga |
A |
G |
19: 45,765,354 (GRCm39) |
V151A |
possibly damaging |
Het |
| Or4a75 |
A |
G |
2: 89,447,613 (GRCm39) |
*308Q |
probably null |
Het |
| Or52m2 |
A |
G |
7: 102,264,164 (GRCm39) |
S11P |
probably benign |
Het |
| Or5b99 |
A |
T |
19: 12,976,781 (GRCm39) |
I144F |
probably damaging |
Het |
| Or6c33 |
T |
A |
10: 129,854,136 (GRCm39) |
M302K |
probably benign |
Het |
| Or6k2 |
A |
G |
1: 173,987,254 (GRCm39) |
K305R |
probably benign |
Het |
| Or8b57 |
A |
T |
9: 40,003,644 (GRCm39) |
V202E |
probably damaging |
Het |
| Pak6 |
G |
A |
2: 118,525,793 (GRCm39) |
A618T |
probably benign |
Het |
| Pax7 |
T |
A |
4: 139,468,150 (GRCm39) |
E489V |
probably benign |
Het |
| Phactr4 |
G |
A |
4: 132,088,930 (GRCm39) |
R651* |
probably null |
Het |
| Pik3c2b |
C |
T |
1: 133,030,043 (GRCm39) |
R1435C |
probably damaging |
Het |
| Pla2g4c |
A |
T |
7: 13,063,944 (GRCm39) |
I68F |
probably damaging |
Het |
| Plppr1 |
A |
G |
4: 49,325,703 (GRCm39) |
M300V |
probably benign |
Het |
| Ptgfrn |
C |
T |
3: 100,950,725 (GRCm39) |
V863I |
probably damaging |
Het |
| Rabep2 |
T |
C |
7: 126,037,893 (GRCm39) |
S222P |
probably damaging |
Het |
| Ramacl |
A |
G |
13: 67,055,351 (GRCm39) |
|
probably benign |
Het |
| Rbm20 |
A |
T |
19: 53,831,785 (GRCm39) |
D673V |
probably benign |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
C |
A |
11: 106,233,334 (GRCm39) |
A413S |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,135 (GRCm39) |
M1850K |
probably damaging |
Het |
| Sh3tc2 |
T |
A |
18: 62,086,188 (GRCm39) |
M1K |
probably null |
Het |
| Slc22a28 |
G |
A |
19: 8,041,890 (GRCm39) |
T439I |
probably benign |
Het |
| Slc25a36 |
A |
G |
9: 96,966,444 (GRCm39) |
|
probably null |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Spata3 |
T |
C |
1: 85,949,781 (GRCm39) |
|
probably benign |
Het |
| Srp68 |
C |
T |
11: 116,156,265 (GRCm39) |
R159Q |
probably damaging |
Het |
| Ssbp2 |
C |
A |
13: 91,790,448 (GRCm39) |
L104I |
possibly damaging |
Het |
| St8sia3 |
T |
A |
18: 64,400,027 (GRCm39) |
F7L |
probably benign |
Het |
| Stard9 |
T |
C |
2: 120,532,587 (GRCm39) |
V2948A |
probably damaging |
Het |
| Syne4 |
A |
G |
7: 30,018,280 (GRCm39) |
T341A |
probably benign |
Het |
| Tcf7l2 |
T |
A |
19: 55,731,521 (GRCm39) |
D91E |
possibly damaging |
Het |
| Tekt5 |
T |
A |
16: 10,203,943 (GRCm39) |
I236F |
probably damaging |
Het |
| Tlk2 |
T |
C |
11: 105,144,133 (GRCm39) |
Y316H |
probably damaging |
Het |
| Tmem184b |
C |
T |
15: 79,249,491 (GRCm39) |
A326T |
probably benign |
Het |
| Tnks2 |
G |
A |
19: 36,829,954 (GRCm39) |
|
probably null |
Het |
| Trpc4 |
C |
A |
3: 54,209,640 (GRCm39) |
Y668* |
probably null |
Het |
| Ttc9c |
A |
T |
19: 8,793,286 (GRCm39) |
F118Y |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,946,780 (GRCm39) |
C95Y |
probably damaging |
Het |
| Vars2 |
A |
C |
17: 35,970,028 (GRCm39) |
L787R |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,340,627 (GRCm39) |
Y1250C |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,342,118 (GRCm39) |
D1453V |
probably damaging |
Het |
| Zbtb38 |
A |
T |
9: 96,568,029 (GRCm39) |
C1018* |
probably null |
Het |
| Zfp622 |
C |
T |
15: 25,984,709 (GRCm39) |
T25M |
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 |
|
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 |
|
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'- AATTGCGTCCATAGGCCATGC -3'
(R):5'- CGTTTACCCATGGGAAAGGAGG -3'
Sequencing Primer
(F):5'- AACTAGTGCTTACTGGCCAG -3'
(R):5'- AGGGTGCAATTTCGAGAGGTG -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation