Incidental Mutation 'R6102:Vwa3a'
| ID |
485309 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa3a
|
| Ensembl Gene |
ENSMUSG00000030889 |
| Gene Name |
von Willebrand factor A domain containing 3A |
| Synonyms |
E030013G06Rik |
| MMRRC Submission |
044252-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6102 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
120338541-120404965 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 120375361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033180]
[ENSMUST00000033180]
[ENSMUST00000166668]
[ENSMUST00000166668]
[ENSMUST00000167213]
[ENSMUST00000167213]
[ENSMUST00000168600]
|
| AlphaFold |
Q3UVV9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000033180
|
| SMART Domains |
Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
| 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 null
Transcript: ENSMUST00000033180
|
| SMART Domains |
Protein: ENSMUSP00000033180
Gene: ENSMUSG00000030889
| 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 null
Transcript: ENSMUST00000166668
|
| SMART Domains |
Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
| 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 null
Transcript: ENSMUST00000166668
|
| SMART Domains |
Protein: ENSMUSP00000129136
Gene: ENSMUSG00000030889
| 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 null
Transcript: ENSMUST00000167213
|
| SMART Domains |
Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
| 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 null
Transcript: ENSMUST00000167213
|
| SMART Domains |
Protein: ENSMUSP00000133029
Gene: ENSMUSG00000030889
| 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: 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (65/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12e |
A |
G |
11: 70,210,849 (GRCm39) |
I290T |
possibly damaging |
Het |
| Apeh |
T |
A |
9: 107,963,638 (GRCm39) |
D559V |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,405,197 (GRCm39) |
Y1361* |
probably null |
Het |
| Atad5 |
G |
T |
11: 80,002,398 (GRCm39) |
|
probably null |
Het |
| Ccr4 |
C |
T |
9: 114,325,561 (GRCm39) |
|
probably null |
Het |
| Clasrp |
G |
A |
7: 19,320,393 (GRCm39) |
|
probably benign |
Het |
| Cldn23 |
A |
G |
8: 36,292,705 (GRCm39) |
M261T |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,230,739 (GRCm39) |
M1450V |
probably benign |
Het |
| Cyp4v3 |
T |
A |
8: 45,773,197 (GRCm39) |
E202V |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,598,299 (GRCm39) |
V1412E |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,881,342 (GRCm39) |
S2578P |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,180,165 (GRCm39) |
Y196F |
probably benign |
Het |
| Exoc1 |
T |
C |
5: 76,685,626 (GRCm39) |
S113P |
probably damaging |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Frs3 |
C |
T |
17: 48,013,596 (GRCm39) |
H173Y |
probably damaging |
Het |
| Ginm1 |
G |
T |
10: 7,644,260 (GRCm39) |
T323K |
probably benign |
Het |
| Golgb1 |
T |
C |
16: 36,733,227 (GRCm39) |
S825P |
probably damaging |
Het |
| Hs3st3b1 |
A |
T |
11: 63,812,681 (GRCm39) |
C11* |
probably null |
Het |
| Ighv3-3 |
G |
C |
12: 114,160,080 (GRCm39) |
A110G |
possibly damaging |
Het |
| Igkv6-20 |
G |
A |
6: 70,312,853 (GRCm39) |
H107Y |
probably benign |
Het |
| Kcnj16 |
A |
G |
11: 110,916,403 (GRCm39) |
E355G |
probably benign |
Het |
| Lig4 |
C |
T |
8: 10,022,872 (GRCm39) |
G303S |
probably damaging |
Het |
| Map1b |
A |
C |
13: 99,562,381 (GRCm39) |
V2443G |
unknown |
Het |
| Map3k6 |
T |
C |
4: 132,974,442 (GRCm39) |
|
probably null |
Het |
| Mmp13 |
A |
G |
9: 7,276,688 (GRCm39) |
Q261R |
probably benign |
Het |
| Mphosph9 |
T |
A |
5: 124,435,772 (GRCm39) |
I554F |
possibly damaging |
Het |
| Mrgpra3 |
A |
T |
7: 47,239,897 (GRCm39) |
F10I |
possibly damaging |
Het |
| Ms4a18 |
G |
A |
19: 10,990,887 (GRCm39) |
T69I |
probably benign |
Het |
| Mtmr3 |
T |
C |
11: 4,437,673 (GRCm39) |
N927S |
probably damaging |
Het |
| Necab1 |
T |
A |
4: 14,989,211 (GRCm39) |
Q188L |
probably benign |
Het |
| Nfatc2 |
A |
G |
2: 168,361,427 (GRCm39) |
|
probably benign |
Het |
| Or5i1 |
T |
C |
2: 87,613,192 (GRCm39) |
F103L |
probably damaging |
Het |
| Or5p70 |
T |
C |
7: 107,994,491 (GRCm39) |
S55P |
probably damaging |
Het |
| Or7g34 |
T |
C |
9: 19,478,318 (GRCm39) |
M121V |
possibly damaging |
Het |
| Paip2b |
A |
C |
6: 83,785,828 (GRCm39) |
V134G |
possibly damaging |
Het |
| Pax3 |
T |
C |
1: 78,108,984 (GRCm39) |
T225A |
probably damaging |
Het |
| Pbx1 |
C |
A |
1: 168,011,134 (GRCm39) |
A298S |
probably benign |
Het |
| Pcdhac2 |
A |
T |
18: 37,279,335 (GRCm39) |
K772* |
probably null |
Het |
| Pcsk4 |
A |
T |
10: 80,161,651 (GRCm39) |
Y163* |
probably null |
Het |
| Plcd3 |
A |
G |
11: 102,971,470 (GRCm39) |
V58A |
probably damaging |
Het |
| Plek2 |
T |
A |
12: 78,946,867 (GRCm39) |
T57S |
possibly damaging |
Het |
| Plscr2 |
C |
T |
9: 92,169,721 (GRCm39) |
T57I |
probably benign |
Het |
| Ppp2r5b |
A |
G |
19: 6,284,768 (GRCm39) |
S32P |
probably benign |
Het |
| Ppp3r2 |
C |
T |
4: 49,682,022 (GRCm39) |
|
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,815,567 (GRCm39) |
L1693H |
probably damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,830,313 (GRCm39) |
Q618L |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Serpina3b |
A |
T |
12: 104,100,428 (GRCm39) |
T337S |
probably benign |
Het |
| Slc18a2 |
T |
C |
19: 59,282,310 (GRCm39) |
Y506H |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 94,818,482 (GRCm39) |
Y292C |
probably benign |
Het |
| Spta1 |
T |
C |
1: 174,052,086 (GRCm39) |
V1840A |
probably benign |
Het |
| Ssb |
T |
C |
2: 69,701,552 (GRCm39) |
*416Q |
probably null |
Het |
| Strada |
A |
G |
11: 106,059,262 (GRCm39) |
V209A |
probably benign |
Het |
| Tbc1d31 |
A |
T |
15: 57,799,489 (GRCm39) |
D225V |
probably damaging |
Het |
| Tgm4 |
T |
C |
9: 122,885,600 (GRCm39) |
F381L |
probably benign |
Het |
| Tmem120b |
T |
A |
5: 123,253,207 (GRCm39) |
Y203N |
probably damaging |
Het |
| Tmem176b |
A |
G |
6: 48,812,868 (GRCm39) |
V109A |
probably benign |
Het |
| Tnfrsf11a |
C |
A |
1: 105,747,671 (GRCm39) |
L201M |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,804,694 (GRCm39) |
|
probably null |
Het |
| Tubb2a |
T |
C |
13: 34,259,326 (GRCm39) |
I155V |
probably benign |
Het |
| Vmn1r5 |
A |
G |
6: 56,963,099 (GRCm39) |
D258G |
probably damaging |
Het |
| Vmn2r121 |
T |
C |
X: 123,043,272 (GRCm39) |
T120A |
probably benign |
Het |
| Vmn2r19 |
A |
T |
6: 123,306,907 (GRCm39) |
I472F |
probably damaging |
Het |
| Zfp273 |
A |
G |
13: 67,970,466 (GRCm39) |
Y5C |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zfp825 |
A |
G |
13: 74,628,772 (GRCm39) |
L248P |
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 |
|
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 |
|
|
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'- TTTAAGAAGCGCCACACAGG -3'
(R):5'- GGGCACAAATTCTTCCACAGG -3'
Sequencing Primer
(F):5'- CAGCTCTAAAATGTGCTGTGTAACGG -3'
(R):5'- CTTCCACAGGATTAAAGGCGTTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation