Incidental Mutation 'R7557:Vwa3a'
ID |
584835 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa3a
|
Ensembl Gene |
ENSMUSG00000030889 |
Gene Name |
von Willebrand factor A domain containing 3A |
Synonyms |
E030013G06Rik |
MMRRC Submission |
045652-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7557 (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 120394841 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 887
(M887K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129136
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033180]
[ENSMUST00000166668]
[ENSMUST00000167213]
|
AlphaFold |
Q3UVV9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033180
AA Change: M887K
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000033180 Gene: ENSMUSG00000030889 AA Change: M887K
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 |
possibly damaging
Transcript: ENSMUST00000166668
AA Change: M887K
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000129136 Gene: ENSMUSG00000030889 AA Change: M887K
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: M887K
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133029 Gene: ENSMUSG00000030889 AA Change: M887K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
T |
3: 137,774,044 (GRCm39) |
Q1078* |
probably null |
Het |
Aatk |
T |
C |
11: 119,900,256 (GRCm39) |
K1310R |
possibly damaging |
Het |
Acaa2 |
C |
T |
18: 74,928,230 (GRCm39) |
T153M |
possibly damaging |
Het |
Add3 |
A |
G |
19: 53,227,868 (GRCm39) |
T518A |
probably damaging |
Het |
Cacnb4 |
T |
C |
2: 52,359,579 (GRCm39) |
E143G |
probably damaging |
Het |
Cd209a |
T |
A |
8: 3,795,541 (GRCm39) |
T177S |
probably benign |
Het |
Chp1 |
T |
A |
2: 119,391,238 (GRCm39) |
Y32N |
probably damaging |
Het |
Clcn3 |
T |
C |
8: 61,390,402 (GRCm39) |
T180A |
probably damaging |
Het |
Dctn2 |
C |
A |
10: 127,114,273 (GRCm39) |
T373N |
probably benign |
Het |
Dipk2a |
T |
C |
9: 94,402,591 (GRCm39) |
D357G |
probably damaging |
Het |
Ecpas |
A |
G |
4: 58,849,691 (GRCm39) |
Y483H |
possibly damaging |
Het |
Emb |
T |
A |
13: 117,386,252 (GRCm39) |
N136K |
probably benign |
Het |
Enpp2 |
A |
T |
15: 54,773,536 (GRCm39) |
C62S |
probably damaging |
Het |
Fbxo28 |
G |
T |
1: 182,169,000 (GRCm39) |
A52E |
unknown |
Het |
Gask1b |
A |
T |
3: 79,793,915 (GRCm39) |
K128* |
probably null |
Het |
Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
Ggta1 |
T |
C |
2: 35,292,548 (GRCm39) |
D253G |
probably damaging |
Het |
Gps1 |
C |
T |
11: 120,677,193 (GRCm39) |
A164V |
probably benign |
Het |
Gramd4 |
C |
T |
15: 85,985,101 (GRCm39) |
Q146* |
probably null |
Het |
Kcnh5 |
A |
T |
12: 75,054,399 (GRCm39) |
M515K |
possibly damaging |
Het |
Klrc3 |
T |
C |
6: 129,616,107 (GRCm39) |
T203A |
probably damaging |
Het |
Krt26 |
G |
T |
11: 99,225,567 (GRCm39) |
R305S |
probably damaging |
Het |
Lpin1 |
A |
G |
12: 16,630,793 (GRCm39) |
V35A |
|
Het |
Marf1 |
C |
T |
16: 13,950,560 (GRCm39) |
R942H |
probably damaging |
Het |
Mfhas1 |
T |
A |
8: 36,056,758 (GRCm39) |
M411K |
possibly damaging |
Het |
Mok |
A |
G |
12: 110,774,833 (GRCm39) |
S330P |
probably benign |
Het |
Msto1 |
A |
G |
3: 88,817,435 (GRCm39) |
|
probably null |
Het |
Omg |
T |
A |
11: 79,393,679 (GRCm39) |
I60F |
possibly damaging |
Het |
Or10w1 |
T |
A |
19: 13,632,390 (GRCm39) |
I199N |
possibly damaging |
Het |
Pcdhgb4 |
T |
A |
18: 37,855,847 (GRCm39) |
C747* |
probably null |
Het |
Pih1d1 |
A |
G |
7: 44,806,183 (GRCm39) |
T40A |
probably benign |
Het |
Pih1d2 |
A |
T |
9: 50,536,216 (GRCm39) |
E290D |
probably damaging |
Het |
Plce1 |
A |
G |
19: 38,753,848 (GRCm39) |
K1849E |
probably benign |
Het |
Plekha5 |
T |
C |
6: 140,372,271 (GRCm39) |
Y74H |
probably damaging |
Het |
Pole |
T |
G |
5: 110,460,860 (GRCm39) |
I1183S |
probably damaging |
Het |
Ptgs1 |
T |
C |
2: 36,135,223 (GRCm39) |
S396P |
possibly damaging |
Het |
Rasa2 |
T |
C |
9: 96,439,478 (GRCm39) |
E575G |
probably damaging |
Het |
Sec22b |
A |
G |
3: 97,808,674 (GRCm39) |
T5A |
probably damaging |
Het |
Slc18a1 |
T |
A |
8: 69,518,213 (GRCm39) |
D267V |
probably damaging |
Het |
Smad5 |
T |
C |
13: 56,875,282 (GRCm39) |
F157L |
probably benign |
Het |
Tcea1 |
T |
A |
1: 4,965,213 (GRCm39) |
C294* |
probably null |
Het |
Tut7 |
T |
C |
13: 59,936,280 (GRCm39) |
I1274V |
possibly damaging |
Het |
Txndc15 |
T |
A |
13: 55,865,767 (GRCm39) |
M77K |
probably benign |
Het |
Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
Vmn2r1 |
T |
A |
3: 63,997,475 (GRCm39) |
V377D |
probably damaging |
Het |
Vmn2r7 |
A |
G |
3: 64,632,394 (GRCm39) |
Y23H |
probably benign |
Het |
Zbtb5 |
T |
C |
4: 44,995,196 (GRCm39) |
N63D |
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 |
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'- TCGCAGAACCATTGAATCTAGTAG -3'
(R):5'- TCAGTTGGCTAAGTCCACTG -3'
Sequencing Primer
(F):5'- GACCCTGTTTCAAAATTAGGCAGGC -3'
(R):5'- TGCCCAGACAGTCTCTAGGAC -3'
|
Posted On |
2019-10-17 |