Incidental Mutation 'R8768:Vwa3a'
| ID |
664228 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3a
|
| Ensembl Gene |
ENSMUSG00000030889 |
| Gene Name |
von Willebrand factor A domain containing 3A |
| Synonyms |
E030013G06Rik |
| MMRRC Submission |
068623-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8768 (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 120375299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 371
(I371N)
|
| 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: I371N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
AA Change: I371N
| 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: I371N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
AA Change: I371N
| 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: I371N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
AA Change: I371N
| 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: I371N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132372
Gene: ENSMUSG00000030889
AA Change: I371N
| 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 |
0.2047 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (76/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1b |
A |
T |
1: 36,740,588 (GRCm39) |
C222S |
probably benign |
Het |
| Actrt3 |
T |
G |
3: 30,651,992 (GRCm39) |
R367S |
probably damaging |
Het |
| Alg1 |
T |
C |
16: 5,060,416 (GRCm39) |
V379A |
probably damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,593,763 (GRCm39) |
E456G |
probably benign |
Het |
| Arhgef33 |
G |
T |
17: 80,681,148 (GRCm39) |
A763S |
possibly damaging |
Het |
| Armc5 |
T |
G |
7: 127,841,783 (GRCm39) |
V597G |
probably benign |
Het |
| Asb10 |
G |
T |
5: 24,738,690 (GRCm39) |
R456S |
probably damaging |
Het |
| Asph |
A |
G |
4: 9,453,417 (GRCm39) |
F702L |
probably damaging |
Het |
| Atf7 |
T |
A |
15: 102,449,324 (GRCm39) |
T326S |
probably benign |
Het |
| Atxn7l2 |
T |
C |
3: 108,114,250 (GRCm39) |
N171D |
probably benign |
Het |
| BC049715 |
T |
A |
6: 136,816,979 (GRCm39) |
M73K |
possibly damaging |
Het |
| C2cd6 |
A |
G |
1: 59,105,312 (GRCm39) |
V322A |
probably benign |
Het |
| Cadps2 |
A |
C |
6: 23,382,938 (GRCm39) |
C807W |
probably damaging |
Het |
| Ccdc57 |
C |
T |
11: 120,788,788 (GRCm39) |
R353H |
probably benign |
Het |
| Ccdc89 |
T |
C |
7: 90,075,793 (GRCm39) |
M1T |
probably null |
Het |
| Cntn1 |
G |
A |
15: 92,132,347 (GRCm39) |
V148M |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,561,572 (GRCm39) |
I1335F |
|
Het |
| Dap3 |
A |
G |
3: 88,834,334 (GRCm39) |
M294T |
probably damaging |
Het |
| Dbh |
A |
G |
2: 27,060,328 (GRCm39) |
D168G |
probably benign |
Het |
| Dchs2 |
C |
A |
3: 83,253,592 (GRCm39) |
A2334E |
probably benign |
Het |
| Dcun1d4 |
T |
A |
5: 73,678,310 (GRCm39) |
Y102N |
probably benign |
Het |
| Dhtkd1 |
T |
C |
2: 5,903,533 (GRCm39) |
T918A |
probably benign |
Het |
| Dmgdh |
C |
T |
13: 93,825,118 (GRCm39) |
T147I |
possibly damaging |
Het |
| Dmxl2 |
T |
G |
9: 54,301,105 (GRCm39) |
K2335N |
possibly damaging |
Het |
| Efna5 |
T |
C |
17: 63,188,125 (GRCm39) |
M1V |
probably null |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,944 (GRCm39) |
N66D |
probably damaging |
Het |
| Gas2l2 |
C |
A |
11: 83,313,999 (GRCm39) |
A438S |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,989,521 (GRCm39) |
S1991P |
probably damaging |
Het |
| Hsp90b1 |
A |
T |
10: 86,541,169 (GRCm39) |
|
probably null |
Het |
| Iars1 |
T |
A |
13: 49,878,102 (GRCm39) |
N875K |
probably damaging |
Het |
| Jag1 |
A |
C |
2: 136,943,521 (GRCm39) |
M225R |
possibly damaging |
Het |
| Jag1 |
T |
C |
2: 136,932,708 (GRCm39) |
|
probably benign |
Het |
| Kcnn2 |
C |
T |
18: 45,692,502 (GRCm39) |
S26L |
possibly damaging |
Het |
| Kctd2 |
T |
C |
11: 115,311,279 (GRCm39) |
S96P |
probably damaging |
Het |
| Klhl25 |
A |
G |
7: 75,516,359 (GRCm39) |
N422D |
probably damaging |
Het |
| Lhx8 |
A |
T |
3: 154,027,886 (GRCm39) |
V222E |
possibly damaging |
Het |
| Lrig1 |
A |
T |
6: 94,631,840 (GRCm39) |
V120D |
possibly damaging |
Het |
| Manba |
T |
A |
3: 135,256,995 (GRCm39) |
S553T |
probably damaging |
Het |
| Mllt10 |
T |
A |
2: 18,167,583 (GRCm39) |
S503T |
probably damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,304,050 (GRCm39) |
N46D |
probably benign |
Het |
| Or1l4b |
C |
T |
2: 37,037,016 (GRCm39) |
S264L |
probably benign |
Het |
| Or8b50 |
A |
C |
9: 38,518,441 (GRCm39) |
K227Q |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,437,252 (GRCm39) |
E450K |
probably damaging |
Het |
| Phrf1 |
T |
A |
7: 140,838,651 (GRCm39) |
F615L |
unknown |
Het |
| Plch2 |
C |
A |
4: 155,083,324 (GRCm39) |
G538V |
probably damaging |
Het |
| Ppp2r2d |
T |
A |
7: 138,475,897 (GRCm39) |
I235N |
probably damaging |
Het |
| Prdm15 |
A |
T |
16: 97,638,888 (GRCm39) |
D57E |
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,417,003 (GRCm39) |
D45G |
probably damaging |
Het |
| Ptger4 |
T |
A |
15: 5,272,138 (GRCm39) |
R185S |
probably benign |
Het |
| Ptp4a2 |
T |
A |
4: 129,740,299 (GRCm39) |
M121K |
probably damaging |
Het |
| Ptpre |
T |
G |
7: 135,283,306 (GRCm39) |
F659V |
possibly damaging |
Het |
| Rad54l2 |
T |
G |
9: 106,596,809 (GRCm39) |
D199A |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,647,521 (GRCm39) |
M556V |
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,243,349 (GRCm39) |
V711A |
probably benign |
Het |
| Sesn3 |
G |
A |
9: 14,225,964 (GRCm39) |
C233Y |
probably damaging |
Het |
| Slc45a1 |
T |
A |
4: 150,714,206 (GRCm39) |
I680F |
probably damaging |
Het |
| Slco1a6 |
C |
T |
6: 142,078,897 (GRCm39) |
V133M |
probably benign |
Het |
| Syt6 |
T |
C |
3: 103,492,850 (GRCm39) |
L119P |
probably benign |
Het |
| Szt2 |
A |
C |
4: 118,226,613 (GRCm39) |
S2974R |
unknown |
Het |
| Taok1 |
A |
T |
11: 77,444,712 (GRCm39) |
H454Q |
probably damaging |
Het |
| Tbx10 |
G |
A |
19: 4,047,303 (GRCm39) |
V136M |
probably damaging |
Het |
| Tespa1 |
A |
G |
10: 130,198,027 (GRCm39) |
T350A |
probably benign |
Het |
| Tnks1bp1 |
T |
A |
2: 84,900,980 (GRCm39) |
Y1562* |
probably null |
Het |
| Trank1 |
T |
A |
9: 111,218,344 (GRCm39) |
F1908Y |
probably benign |
Het |
| Trav6d-4 |
A |
T |
14: 52,991,243 (GRCm39) |
H96L |
possibly damaging |
Het |
| Tspoap1 |
T |
C |
11: 87,669,197 (GRCm39) |
I1490T |
probably benign |
Het |
| Ttc21a |
T |
C |
9: 119,770,286 (GRCm39) |
F119S |
probably damaging |
Het |
| Ttll3 |
T |
G |
6: 113,385,949 (GRCm39) |
M594R |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,798,790 (GRCm39) |
R495* |
probably null |
Het |
| Twf1 |
A |
C |
15: 94,479,110 (GRCm39) |
L250V |
probably damaging |
Het |
| Ubr4 |
A |
T |
4: 139,149,076 (GRCm39) |
E458D |
|
Het |
| Unc50 |
T |
C |
1: 37,476,244 (GRCm39) |
F135L |
probably benign |
Het |
| Zfp180 |
T |
C |
7: 23,805,161 (GRCm39) |
S527P |
probably damaging |
Het |
| Zfp512 |
T |
A |
5: 31,630,882 (GRCm39) |
I408N |
probably damaging |
Het |
| Zfp57 |
A |
G |
17: 37,317,077 (GRCm39) |
T52A |
probably benign |
Het |
| Zranb2 |
A |
G |
3: 157,247,327 (GRCm39) |
|
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 |
|
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'- TTAAGAAGCGCCACACAGG -3'
(R):5'- TGGGCACAAATTCTTCCACAG -3'
Sequencing Primer
(F):5'- CACACAGGCACCAGGTGAATG -3'
(R):5'- CTTCCACAGGATTAAAGGCGTTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation