Incidental Mutation 'R9464:Vwa3a'
| ID |
715064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3a
|
| Ensembl Gene |
ENSMUSG00000030889 |
| Gene Name |
von Willebrand factor A domain containing 3A |
| Synonyms |
E030013G06Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9464 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
120338541-120404965 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120385682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 675
(S675T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129136
(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: S675T
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: S675T
| 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
AA Change: S135T
PolyPhen 2
Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000129672
Gene: ENSMUSG00000030889
AA Change: S135T
| 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: S675T
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: S675T
| 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: S675T
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: S675T
| 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 |
probably benign
Transcript: ENSMUST00000168600
|
| SMART Domains |
Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889
| 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: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
C |
1: 159,902,865 (GRCm39) |
F45S |
possibly damaging |
Het |
| Abca4 |
A |
G |
3: 121,913,714 (GRCm39) |
T897A |
probably benign |
Het |
| Abhd5 |
A |
T |
9: 122,208,029 (GRCm39) |
T308S |
probably benign |
Het |
| Abi2 |
G |
A |
1: 60,478,100 (GRCm39) |
|
probably null |
Het |
| Abi3bp |
C |
A |
16: 56,409,046 (GRCm39) |
T283N |
possibly damaging |
Het |
| Adcy2 |
A |
C |
13: 68,882,776 (GRCm39) |
N320K |
probably damaging |
Het |
| Adcy3 |
T |
A |
12: 4,256,939 (GRCm39) |
M819K |
probably benign |
Het |
| Anapc5 |
A |
G |
5: 122,940,209 (GRCm39) |
V354A |
probably benign |
Het |
| Card14 |
A |
G |
11: 119,208,031 (GRCm39) |
I34V |
probably benign |
Het |
| Ccdc153 |
A |
T |
9: 44,157,011 (GRCm39) |
T118S |
possibly damaging |
Het |
| Champ1 |
G |
A |
8: 13,929,114 (GRCm39) |
G424D |
probably damaging |
Het |
| Crybg3 |
A |
T |
16: 59,376,120 (GRCm39) |
|
probably benign |
Het |
| Ctsr |
T |
A |
13: 61,307,295 (GRCm39) |
I334F |
possibly damaging |
Het |
| Dlgap1 |
A |
T |
17: 70,823,964 (GRCm39) |
Q316H |
probably benign |
Het |
| Dnajc18 |
A |
C |
18: 35,830,166 (GRCm39) |
C80G |
probably damaging |
Het |
| Dthd1 |
G |
A |
5: 63,039,626 (GRCm39) |
R676H |
probably benign |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fancc |
T |
C |
13: 63,550,769 (GRCm39) |
K18E |
possibly damaging |
Het |
| Fbxo46 |
G |
C |
7: 18,870,791 (GRCm39) |
R470P |
probably damaging |
Het |
| Fbxw20 |
A |
C |
9: 109,050,399 (GRCm39) |
W409G |
probably damaging |
Het |
| Gcnt4 |
C |
T |
13: 97,083,493 (GRCm39) |
T263M |
probably benign |
Het |
| Gfy |
T |
C |
7: 44,827,251 (GRCm39) |
T282A |
probably benign |
Het |
| Glb1l3 |
A |
G |
9: 26,761,351 (GRCm39) |
M227T |
probably damaging |
Het |
| Gm8267 |
T |
C |
14: 44,960,346 (GRCm39) |
E133G |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,599,248 (GRCm39) |
I1556R |
possibly damaging |
Het |
| Ifnl3 |
T |
C |
7: 28,223,287 (GRCm39) |
V102A |
probably damaging |
Het |
| Kifc3 |
C |
T |
8: 95,830,622 (GRCm39) |
R548Q |
possibly damaging |
Het |
| Lonrf1 |
T |
A |
8: 36,690,024 (GRCm39) |
Q678L |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,454,497 (GRCm39) |
E1129G |
probably damaging |
Het |
| Mug2 |
C |
A |
6: 122,028,690 (GRCm39) |
D561E |
probably benign |
Het |
| Myo3a |
G |
T |
2: 22,232,383 (GRCm39) |
|
probably benign |
Het |
| N4bp1 |
A |
G |
8: 87,587,165 (GRCm39) |
V591A |
probably damaging |
Het |
| Nckap5 |
C |
T |
1: 125,952,494 (GRCm39) |
G1353R |
probably benign |
Het |
| Nek10 |
T |
A |
14: 14,937,766 (GRCm38) |
H828Q |
probably benign |
Het |
| Or52n3 |
T |
A |
7: 104,530,050 (GRCm39) |
C45* |
probably null |
Het |
| Or5k1b |
G |
T |
16: 58,581,202 (GRCm39) |
C112* |
probably null |
Het |
| Pclo |
T |
C |
5: 14,816,830 (GRCm39) |
S1297P |
|
Het |
| Pkhd1l1 |
T |
C |
15: 44,343,009 (GRCm39) |
I162T |
probably damaging |
Het |
| Plaat5 |
A |
G |
19: 7,591,923 (GRCm39) |
E113G |
probably damaging |
Het |
| Plekhg2 |
T |
C |
7: 28,062,297 (GRCm39) |
E541G |
probably damaging |
Het |
| Ppp1r15a |
T |
C |
7: 45,174,149 (GRCm39) |
N220D |
possibly damaging |
Het |
| Prss3l |
A |
G |
6: 41,420,486 (GRCm39) |
V80A |
probably benign |
Het |
| Psmd4 |
A |
G |
3: 94,940,735 (GRCm39) |
S343P |
probably benign |
Het |
| Rnf213 |
A |
T |
11: 119,354,406 (GRCm39) |
H4063L |
|
Het |
| Rnf40 |
T |
C |
7: 127,190,954 (GRCm39) |
V313A |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,752,680 (GRCm39) |
E1880D |
probably benign |
Het |
| Slc30a4 |
A |
T |
2: 122,527,200 (GRCm39) |
L398I |
probably damaging |
Het |
| Sp100 |
A |
T |
1: 85,624,751 (GRCm39) |
N380I |
probably damaging |
Het |
| Speer4d |
T |
G |
5: 15,828,393 (GRCm39) |
L175W |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,137,273 (GRCm39) |
I985K |
possibly damaging |
Het |
| Tesk2 |
T |
C |
4: 116,658,443 (GRCm39) |
|
probably null |
Het |
| Tgfbrap1 |
A |
G |
1: 43,114,608 (GRCm39) |
V164A |
probably damaging |
Het |
| Tlk1 |
T |
C |
2: 70,544,341 (GRCm39) |
T765A |
probably benign |
Het |
| Tmem207 |
A |
T |
16: 26,345,413 (GRCm39) |
C18S |
|
Het |
| Tph2 |
A |
T |
10: 114,915,992 (GRCm39) |
C394S |
probably benign |
Het |
| Trrap |
C |
A |
5: 144,763,517 (GRCm39) |
H2470N |
probably damaging |
Het |
| Ttc21b |
T |
C |
2: 66,053,866 (GRCm39) |
Y771C |
probably damaging |
Het |
| Uchl3 |
T |
C |
14: 101,904,451 (GRCm39) |
F122L |
probably damaging |
Het |
| Vipr1 |
G |
A |
9: 121,471,993 (GRCm39) |
|
probably null |
Het |
| Vmn2r117 |
G |
T |
17: 23,696,578 (GRCm39) |
D276E |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,858,674 (GRCm39) |
L2708P |
probably damaging |
Het |
| Zfp473 |
A |
G |
7: 44,383,766 (GRCm39) |
L189P |
probably benign |
Het |
| Zfp956 |
T |
A |
6: 47,941,041 (GRCm39) |
C467S |
probably damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,377,741 (GRCm39) |
N995K |
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 |
|
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 |
|
|
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'- ACAGTCCTGTGGCTAGTTACAC -3'
(R):5'- ACAAAGGGTTCTATCCATAGCCTAC -3'
Sequencing Primer
(F):5'- TGGCTAGTTACACTCTTGGTAAC -3'
(R):5'- GGGTTCTATCCATAGCCTACTGAAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation