Incidental Mutation 'R6298:Vwa3a'
| ID |
508900 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3a
|
| Ensembl Gene |
ENSMUSG00000030889 |
| Gene Name |
von Willebrand factor A domain containing 3A |
| Synonyms |
E030013G06Rik |
| MMRRC Submission |
044408-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6298 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
120338541-120404965 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 120394874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 898
(T898I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033180]
[ENSMUST00000166668]
[ENSMUST00000167213]
|
| AlphaFold |
Q3UVV9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033180
AA Change: T898I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: T898I
| 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: ENSMUST00000166083
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166668
AA Change: T898I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: T898I
| 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: T898I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: T898I
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
98% (79/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
T |
2: 103,539,833 (GRCm39) |
M733L |
probably benign |
Het |
| Acss3 |
G |
A |
10: 106,920,717 (GRCm39) |
P131L |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,539,886 (GRCm39) |
I5678F |
probably benign |
Het |
| Aff1 |
C |
T |
5: 103,902,586 (GRCm39) |
L6F |
possibly damaging |
Het |
| Ank3 |
G |
T |
10: 69,686,006 (GRCm39) |
R273L |
probably damaging |
Het |
| Anks1b |
G |
A |
10: 90,516,699 (GRCm39) |
G898D |
probably damaging |
Het |
| Anxa11 |
C |
T |
14: 25,873,158 (GRCm39) |
P131S |
unknown |
Het |
| Ap4e1 |
T |
A |
2: 126,889,035 (GRCm39) |
M500K |
probably benign |
Het |
| Bag3 |
T |
C |
7: 128,141,922 (GRCm39) |
S138P |
probably damaging |
Het |
| Capn9 |
T |
C |
8: 125,344,193 (GRCm39) |
V670A |
probably benign |
Het |
| Ccne2 |
T |
A |
4: 11,199,306 (GRCm39) |
W236R |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,262,451 (GRCm39) |
Y702* |
probably null |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Cit |
A |
T |
5: 116,086,124 (GRCm39) |
E896V |
probably damaging |
Het |
| Cntln |
T |
A |
4: 85,014,998 (GRCm39) |
N1096K |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,411,747 (GRCm39) |
C544R |
probably damaging |
Het |
| Csf1 |
A |
T |
3: 107,655,675 (GRCm39) |
L452Q |
possibly damaging |
Het |
| Cts8 |
T |
A |
13: 61,397,037 (GRCm39) |
K294N |
possibly damaging |
Het |
| Dcakd |
T |
G |
11: 102,890,618 (GRCm39) |
E56D |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 117,998,987 (GRCm39) |
I929V |
probably benign |
Het |
| Dnah2 |
G |
T |
11: 69,382,467 (GRCm39) |
H1214Q |
probably benign |
Het |
| Dock9 |
T |
C |
14: 121,872,006 (GRCm39) |
D536G |
probably damaging |
Het |
| Drc3 |
A |
G |
11: 60,284,596 (GRCm39) |
N467S |
possibly damaging |
Het |
| Dysf |
A |
G |
6: 84,084,118 (GRCm39) |
|
probably null |
Het |
| Ecpas |
T |
G |
4: 58,877,157 (GRCm39) |
T93P |
probably damaging |
Het |
| Evpl |
A |
T |
11: 116,121,748 (GRCm39) |
L378Q |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,866,660 (GRCm39) |
H1520Q |
probably damaging |
Het |
| Fhod1 |
A |
T |
8: 106,063,780 (GRCm39) |
|
probably benign |
Het |
| Gabra1 |
T |
A |
11: 42,073,205 (GRCm39) |
|
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm14137 |
A |
G |
2: 119,005,572 (GRCm39) |
T44A |
possibly damaging |
Het |
| H2bl1 |
T |
A |
13: 99,120,974 (GRCm39) |
R17S |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,841,013 (GRCm39) |
M3444T |
probably benign |
Het |
| Igsf5 |
T |
C |
16: 96,197,648 (GRCm39) |
S208P |
possibly damaging |
Het |
| Ino80b |
A |
G |
6: 83,102,066 (GRCm39) |
L12P |
possibly damaging |
Het |
| Insrr |
A |
G |
3: 87,720,272 (GRCm39) |
D970G |
probably damaging |
Het |
| Iqcf4 |
G |
A |
9: 106,445,874 (GRCm39) |
A91V |
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,564,078 (GRCm39) |
T911A |
probably benign |
Het |
| Katnip |
T |
C |
7: 125,469,869 (GRCm39) |
V1446A |
probably benign |
Het |
| Klhl30 |
A |
T |
1: 91,285,086 (GRCm39) |
D314V |
probably benign |
Het |
| Lpcat1 |
T |
C |
13: 73,659,074 (GRCm39) |
V330A |
possibly damaging |
Het |
| Myef2l |
T |
C |
3: 10,154,239 (GRCm39) |
I336T |
probably damaging |
Het |
| Nhlrc3 |
A |
T |
3: 53,359,944 (GRCm39) |
D306E |
possibly damaging |
Het |
| Notum |
T |
A |
11: 120,548,766 (GRCm39) |
I187F |
probably damaging |
Het |
| Nphp3 |
T |
C |
9: 103,892,640 (GRCm39) |
L288P |
probably damaging |
Het |
| Ntrk2 |
G |
T |
13: 59,019,570 (GRCm39) |
E394* |
probably null |
Het |
| Or6k2 |
T |
A |
1: 173,979,748 (GRCm39) |
V222D |
probably benign |
Het |
| Pbld2 |
A |
G |
10: 62,874,931 (GRCm39) |
K63E |
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,641,982 (GRCm39) |
M768T |
possibly damaging |
Het |
| Pik3c2g |
G |
A |
6: 139,603,561 (GRCm39) |
C249Y |
probably damaging |
Het |
| Plod1 |
G |
A |
4: 148,000,772 (GRCm39) |
|
probably benign |
Het |
| Plscr2 |
A |
T |
9: 92,172,772 (GRCm39) |
T9S |
probably benign |
Het |
| Pnrc1 |
T |
A |
4: 33,246,315 (GRCm39) |
M215L |
probably benign |
Het |
| Prcp |
G |
T |
7: 92,577,841 (GRCm39) |
C370F |
probably damaging |
Het |
| Pter |
A |
G |
2: 12,983,205 (GRCm39) |
N70S |
probably damaging |
Het |
| Ptprt |
G |
T |
2: 161,395,779 (GRCm39) |
H1131Q |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 157,239,432 (GRCm39) |
D8G |
possibly damaging |
Het |
| Rcn2 |
A |
C |
9: 55,960,209 (GRCm39) |
K159Q |
probably benign |
Het |
| Rex2 |
T |
A |
4: 147,141,972 (GRCm39) |
C153* |
probably null |
Het |
| Rps6ka2 |
T |
C |
17: 7,437,766 (GRCm39) |
F8S |
possibly damaging |
Het |
| Samd9l |
A |
G |
6: 3,375,383 (GRCm39) |
L626S |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,667,428 (GRCm39) |
|
probably null |
Het |
| Srgap3 |
A |
T |
6: 112,793,571 (GRCm39) |
V135D |
probably damaging |
Het |
| Srsf7 |
T |
C |
17: 80,514,682 (GRCm39) |
|
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,228,255 (GRCm39) |
T1647A |
probably benign |
Het |
| Thap12 |
G |
T |
7: 98,352,612 (GRCm39) |
A6S |
probably damaging |
Het |
| Tmem33 |
T |
A |
5: 67,425,894 (GRCm39) |
L146* |
probably null |
Het |
| Trip13 |
C |
A |
13: 74,084,378 (GRCm39) |
E36* |
probably null |
Het |
| Vkorc1l1 |
T |
A |
5: 129,971,079 (GRCm39) |
C23S |
probably damaging |
Het |
| Vmn1r20 |
G |
A |
6: 57,409,112 (GRCm39) |
R146H |
probably benign |
Het |
| Vmn1r222 |
T |
A |
13: 23,416,965 (GRCm39) |
I83F |
probably benign |
Het |
| Vmn2r107 |
A |
T |
17: 20,576,044 (GRCm39) |
I125F |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,605,736 (GRCm39) |
D216G |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,116,812 (GRCm39) |
D76G |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,510,579 (GRCm39) |
D148G |
possibly damaging |
Het |
| Xylt1 |
T |
C |
7: 117,255,960 (GRCm39) |
I844T |
probably damaging |
Het |
| Zfp106 |
A |
T |
2: 120,353,185 (GRCm39) |
V1535D |
probably damaging |
Het |
| Zfp385b |
A |
T |
2: 77,244,323 (GRCm39) |
L315Q |
possibly damaging |
Het |
| Zfp458 |
T |
A |
13: 67,404,870 (GRCm39) |
H523L |
probably damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,393 (GRCm39) |
H378R |
probably damaging |
Het |
| Zic1 |
T |
C |
9: 91,246,556 (GRCm39) |
Y172C |
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 |
|
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'- GTCATGGCACCATTATCCCACC -3'
(R):5'- AGACAGCTCCTGTAGGTAGC -3'
Sequencing Primer
(F):5'- GACCCTGTTTCAAAATTAGGCAGGC -3'
(R):5'- TCCTGTAGGTAGCCTGGAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation