Incidental Mutation 'R7351:Vwa3a'
| ID |
570574 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3a
|
| Ensembl Gene |
ENSMUSG00000030889 |
| Gene Name |
von Willebrand factor A domain containing 3A |
| Synonyms |
E030013G06Rik |
| MMRRC Submission |
045437-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7351 (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 120375559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 423
(I423N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033180]
[ENSMUST00000166668]
[ENSMUST00000167213]
[ENSMUST00000168600]
|
| AlphaFold |
Q3UVV9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033180
AA Change: I423N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: I423N
| 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: I423N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: I423N
| 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: I423N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: I423N
| 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: I423N
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889
AA Change: I423N
| 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 |
0.1281 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
C |
A |
3: 124,206,159 (GRCm39) |
G343V |
probably damaging |
Het |
| Adamts6 |
G |
A |
13: 104,526,620 (GRCm39) |
S516N |
possibly damaging |
Het |
| Ahi1 |
A |
G |
10: 20,841,832 (GRCm39) |
D301G |
probably damaging |
Het |
| Arhgef37 |
T |
A |
18: 61,631,286 (GRCm39) |
L566F |
possibly damaging |
Het |
| AU040320 |
A |
G |
4: 126,710,237 (GRCm39) |
N328D |
probably damaging |
Het |
| Bicc1 |
G |
T |
10: 70,783,730 (GRCm39) |
T469K |
probably benign |
Het |
| Brk1 |
T |
C |
6: 113,592,742 (GRCm39) |
S42P |
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,903,887 (GRCm39) |
E351G |
possibly damaging |
Het |
| Cenpo |
A |
T |
12: 4,266,581 (GRCm39) |
F176I |
probably damaging |
Het |
| Cfap97d1 |
A |
G |
11: 101,882,331 (GRCm39) |
E163G |
probably benign |
Het |
| Clec12b |
A |
G |
6: 129,356,874 (GRCm39) |
|
probably null |
Het |
| Ddx42 |
A |
G |
11: 106,138,508 (GRCm39) |
N769S |
probably benign |
Het |
| Drc7 |
A |
G |
8: 95,785,135 (GRCm39) |
D165G |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,167,145 (GRCm39) |
I486N |
probably damaging |
Het |
| Gmip |
A |
G |
8: 70,270,034 (GRCm39) |
D679G |
probably benign |
Het |
| Gml2 |
T |
C |
15: 74,693,225 (GRCm39) |
V76A |
possibly damaging |
Het |
| Gpr26 |
T |
C |
7: 131,576,094 (GRCm39) |
C253R |
probably damaging |
Het |
| H2-Q4 |
A |
G |
17: 35,601,854 (GRCm39) |
T239A |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,543,640 (GRCm39) |
Y2845F |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,433,240 (GRCm39) |
Y550H |
probably damaging |
Het |
| Irgm2 |
G |
A |
11: 58,110,431 (GRCm39) |
V41M |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,278,486 (GRCm39) |
G3956R |
probably damaging |
Het |
| Matn2 |
G |
A |
15: 34,345,482 (GRCm39) |
R163H |
probably damaging |
Het |
| Mxd1 |
A |
G |
6: 86,628,448 (GRCm39) |
S151P |
probably damaging |
Het |
| Or10ak16 |
T |
C |
4: 118,751,033 (GRCm39) |
V251A |
probably benign |
Het |
| Or4a73 |
C |
T |
2: 89,420,857 (GRCm39) |
G201S |
probably benign |
Het |
| Or5m10b |
G |
T |
2: 85,694,415 (GRCm39) |
|
probably benign |
Het |
| Or8b3 |
C |
T |
9: 38,314,739 (GRCm39) |
L190F |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,317,049 (GRCm39) |
E642G |
possibly damaging |
Het |
| Pramel6 |
T |
A |
2: 87,340,672 (GRCm39) |
F335I |
probably benign |
Het |
| Psd |
G |
T |
19: 46,310,869 (GRCm39) |
S393R |
probably benign |
Het |
| Pwwp2a |
A |
G |
11: 43,573,107 (GRCm39) |
D63G |
probably benign |
Het |
| Rbm28 |
T |
C |
6: 29,158,879 (GRCm39) |
T139A |
probably benign |
Het |
| Ripk2 |
T |
G |
4: 16,155,048 (GRCm39) |
E157A |
probably damaging |
Het |
| Rnf145 |
G |
A |
11: 44,439,623 (GRCm39) |
V140I |
possibly damaging |
Het |
| Rnf38 |
T |
C |
4: 44,149,102 (GRCm39) |
N114D |
probably benign |
Het |
| Samd9l |
G |
A |
6: 3,374,157 (GRCm39) |
R1035C |
probably benign |
Het |
| Sec14l3 |
A |
G |
11: 4,024,785 (GRCm39) |
T245A |
probably benign |
Het |
| Serpina10 |
A |
T |
12: 103,595,194 (GRCm39) |
F8L |
probably benign |
Het |
| Slc16a8 |
T |
A |
15: 79,137,841 (GRCm39) |
D56V |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,983,802 (GRCm39) |
E726D |
probably benign |
Het |
| Spg11 |
A |
G |
2: 121,900,412 (GRCm39) |
F1547L |
possibly damaging |
Het |
| Sspo |
T |
C |
6: 48,441,855 (GRCm39) |
I1955T |
possibly damaging |
Het |
| Stx18 |
T |
A |
5: 38,196,755 (GRCm39) |
V27E |
probably benign |
Het |
| Taf1c |
A |
G |
8: 120,325,739 (GRCm39) |
S708P |
probably damaging |
Het |
| Tas2r126 |
T |
C |
6: 42,412,240 (GRCm39) |
F258L |
probably benign |
Het |
| Tdpoz2 |
C |
T |
3: 93,559,900 (GRCm39) |
W24* |
probably null |
Het |
| Tmc8 |
T |
C |
11: 117,674,654 (GRCm39) |
L123P |
probably damaging |
Het |
| Trmo |
A |
T |
4: 46,387,716 (GRCm39) |
Y35N |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,598,030 (GRCm39) |
V19628I |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,770,274 (GRCm39) |
A2685V |
unknown |
Het |
| Usp15 |
A |
T |
10: 122,968,904 (GRCm39) |
M349K |
probably damaging |
Het |
| Vmn2r89 |
A |
G |
14: 51,693,739 (GRCm39) |
N363S |
probably benign |
Het |
| Zfp592 |
T |
C |
7: 80,691,439 (GRCm39) |
V1206A |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,218,547 (GRCm39) |
Y358N |
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 |
|
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'- TGGCTGAAGATCAATGGTCTAAAAG -3'
(R):5'- CTGAGTGGAAAGCCTGACTC -3'
Sequencing Primer
(F):5'- GGTCTAAAAGGTATTAAATCCCCAG -3'
(R):5'- TGGAAAGCCTGACTCCCACAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation