Incidental Mutation 'R1978:Vwa3a'
ID |
222012 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa3a
|
Ensembl Gene |
ENSMUSG00000030889 |
Gene Name |
von Willebrand factor A domain containing 3A |
Synonyms |
E030013G06Rik |
MMRRC Submission |
039991-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1978 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
120739318-120805742 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120758954 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 83
(I83V)
|
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
AA Change: I83V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000033180 Gene: ENSMUSG00000030889 AA Change: I83V
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
AA Change: I83V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000033180 Gene: ENSMUSG00000030889 AA Change: I83V
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
AA Change: I83V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000129136 Gene: ENSMUSG00000030889 AA Change: I83V
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
AA Change: I83V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000129136 Gene: ENSMUSG00000030889 AA Change: I83V
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
AA Change: I83V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000133029 Gene: ENSMUSG00000030889 AA Change: I83V
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
AA Change: I83V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000133029 Gene: ENSMUSG00000030889 AA Change: I83V
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
AA Change: I83V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000132372 Gene: ENSMUSG00000030889 AA Change: I83V
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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
T |
A |
5: 63,898,537 (GRCm38) |
C205* |
probably null |
Het |
2810474O19Rik |
T |
A |
6: 149,326,432 (GRCm38) |
N325K |
probably benign |
Het |
4921539E11Rik |
T |
A |
4: 103,270,764 (GRCm38) |
T55S |
possibly damaging |
Het |
Akap12 |
A |
G |
10: 4,313,855 (GRCm38) |
D88G |
probably benign |
Het |
Ankrd53 |
C |
A |
6: 83,763,203 (GRCm38) |
F84L |
probably damaging |
Het |
Apol7b |
A |
C |
15: 77,423,339 (GRCm38) |
F319V |
probably damaging |
Het |
Bsn |
A |
G |
9: 108,114,549 (GRCm38) |
S1335P |
probably benign |
Het |
Cep192 |
T |
C |
18: 67,803,158 (GRCm38) |
|
probably null |
Het |
Cfap57 |
A |
G |
4: 118,593,132 (GRCm38) |
S598P |
probably benign |
Het |
Commd8 |
T |
C |
5: 72,165,499 (GRCm38) |
H25R |
probably damaging |
Het |
Crisp4 |
T |
C |
1: 18,128,665 (GRCm38) |
I143V |
probably benign |
Het |
Cyp4a12b |
A |
T |
4: 115,438,145 (GRCm38) |
T483S |
probably benign |
Het |
Dbx2 |
C |
T |
15: 95,632,353 (GRCm38) |
M244I |
probably damaging |
Het |
Dnah6 |
T |
G |
6: 73,121,970 (GRCm38) |
H1982P |
possibly damaging |
Het |
Fam220a |
C |
A |
5: 143,563,127 (GRCm38) |
P98Q |
probably damaging |
Het |
Ggnbp1 |
A |
G |
17: 27,029,543 (GRCm38) |
K29E |
possibly damaging |
Het |
Gm14569 |
A |
C |
X: 36,432,128 (GRCm38) |
M976R |
probably benign |
Het |
Gm9573 |
T |
A |
17: 35,622,965 (GRCm38) |
|
probably benign |
Het |
Hck |
G |
T |
2: 153,129,856 (GRCm38) |
W112C |
probably damaging |
Het |
Heatr5a |
A |
T |
12: 51,939,658 (GRCm38) |
S591T |
possibly damaging |
Het |
Hhat |
A |
G |
1: 192,717,107 (GRCm38) |
S242P |
probably benign |
Het |
Hnrnpll |
A |
G |
17: 80,044,518 (GRCm38) |
S333P |
probably benign |
Het |
Hoxc6 |
T |
C |
15: 103,010,007 (GRCm38) |
|
probably null |
Het |
Inpp5j |
G |
A |
11: 3,502,150 (GRCm38) |
P367S |
probably damaging |
Het |
Lamc2 |
A |
G |
1: 153,133,597 (GRCm38) |
|
probably null |
Het |
Loxhd1 |
T |
A |
18: 77,321,642 (GRCm38) |
I194N |
possibly damaging |
Het |
Miga1 |
CCAGGGCAG |
CCAG |
3: 152,335,304 (GRCm38) |
|
probably null |
Het |
Mkln1 |
C |
T |
6: 31,490,530 (GRCm38) |
Q60* |
probably null |
Het |
Mybph |
C |
A |
1: 134,196,996 (GRCm38) |
H185N |
probably benign |
Het |
Myo1g |
T |
C |
11: 6,520,829 (GRCm38) |
D9G |
possibly damaging |
Het |
Myo6 |
A |
T |
9: 80,228,925 (GRCm38) |
D110V |
probably damaging |
Het |
Ncoa7 |
A |
G |
10: 30,691,299 (GRCm38) |
V412A |
probably benign |
Het |
Neb |
T |
C |
2: 52,287,345 (GRCm38) |
K1328R |
probably damaging |
Het |
Olfm5 |
T |
A |
7: 104,164,741 (GRCm38) |
Q22L |
unknown |
Het |
Olfr1106 |
C |
T |
2: 87,048,835 (GRCm38) |
V134M |
possibly damaging |
Het |
Olfr1328 |
A |
T |
4: 118,934,184 (GRCm38) |
Y221* |
probably null |
Het |
Olfr1355 |
A |
G |
10: 78,879,280 (GRCm38) |
Y36C |
probably damaging |
Het |
Olfr1414 |
C |
A |
1: 92,511,777 (GRCm38) |
G84C |
probably damaging |
Het |
Olfr1423 |
T |
C |
19: 12,036,341 (GRCm38) |
T134A |
probably benign |
Het |
Olfr414 |
T |
A |
1: 174,431,091 (GRCm38) |
I221N |
probably damaging |
Het |
P3h1 |
A |
T |
4: 119,247,976 (GRCm38) |
Q717L |
probably null |
Het |
Pclo |
T |
C |
5: 14,713,795 (GRCm38) |
I4094T |
unknown |
Het |
Pfdn6 |
G |
A |
17: 33,939,077 (GRCm38) |
R73W |
probably benign |
Het |
Phyhipl |
A |
C |
10: 70,559,761 (GRCm38) |
M205R |
possibly damaging |
Het |
Pitpnm1 |
C |
T |
19: 4,107,973 (GRCm38) |
|
probably null |
Het |
Plcg1 |
A |
G |
2: 160,752,578 (GRCm38) |
|
probably null |
Het |
Pnldc1 |
A |
G |
17: 12,906,505 (GRCm38) |
S81P |
possibly damaging |
Het |
Pno1 |
T |
C |
11: 17,204,519 (GRCm38) |
I221V |
possibly damaging |
Het |
Porcn |
A |
G |
X: 8,204,301 (GRCm38) |
V75A |
probably damaging |
Het |
Prkcg |
T |
A |
7: 3,305,346 (GRCm38) |
C69S |
probably damaging |
Het |
Rbbp6 |
G |
T |
7: 122,999,488 (GRCm38) |
|
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,110,324 (GRCm38) |
|
probably benign |
Het |
Scly |
A |
G |
1: 91,320,169 (GRCm38) |
D413G |
probably damaging |
Het |
Scn11a |
G |
A |
9: 119,780,795 (GRCm38) |
R996* |
probably null |
Het |
Slc6a13 |
A |
T |
6: 121,332,373 (GRCm38) |
D281V |
probably damaging |
Het |
Slfn5 |
T |
C |
11: 82,956,616 (GRCm38) |
V109A |
probably benign |
Het |
Smyd1 |
A |
T |
6: 71,312,719 (GRCm38) |
|
probably null |
Het |
Snx29 |
T |
A |
16: 11,367,724 (GRCm38) |
M57K |
probably benign |
Het |
Stag1 |
T |
G |
9: 100,888,086 (GRCm38) |
I603S |
probably benign |
Het |
Svep1 |
C |
A |
4: 58,097,292 (GRCm38) |
C1417F |
possibly damaging |
Het |
Tbc1d23 |
T |
C |
16: 57,189,351 (GRCm38) |
I392V |
probably benign |
Het |
Tchh |
T |
C |
3: 93,446,799 (GRCm38) |
L1182P |
unknown |
Het |
Tle3 |
T |
A |
9: 61,394,633 (GRCm38) |
V108E |
probably damaging |
Het |
Tmem144 |
T |
C |
3: 79,825,400 (GRCm38) |
|
probably null |
Het |
Tpr |
T |
G |
1: 150,419,907 (GRCm38) |
L894V |
possibly damaging |
Het |
Trappc9 |
A |
T |
15: 73,000,025 (GRCm38) |
V472E |
probably damaging |
Het |
Trim38 |
T |
C |
13: 23,791,098 (GRCm38) |
V340A |
probably damaging |
Het |
Ttc37 |
T |
C |
13: 76,134,815 (GRCm38) |
V752A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,811,243 (GRCm38) |
L5176Q |
possibly damaging |
Het |
Vmn1r12 |
T |
A |
6: 57,159,509 (GRCm38) |
I197N |
possibly damaging |
Het |
Vmn1r26 |
T |
C |
6: 58,009,126 (GRCm38) |
Y26C |
possibly damaging |
Het |
Xirp1 |
C |
T |
9: 120,018,591 (GRCm38) |
E409K |
probably benign |
Het |
Zc3h14 |
T |
G |
12: 98,763,922 (GRCm38) |
I46R |
probably damaging |
Het |
Zfp976 |
A |
G |
7: 42,613,841 (GRCm38) |
C191R |
probably damaging |
Het |
|
Other mutations in Vwa3a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01584:Vwa3a
|
APN |
7 |
120,783,974 (GRCm38) |
missense |
probably benign |
0.09 |
IGL01807:Vwa3a
|
APN |
7 |
120,775,506 (GRCm38) |
splice site |
probably null |
|
IGL02850:Vwa3a
|
APN |
7 |
120,773,292 (GRCm38) |
missense |
probably benign |
0.00 |
IGL03253:Vwa3a
|
APN |
7 |
120,778,869 (GRCm38) |
missense |
probably benign |
0.03 |
PIT4812001:Vwa3a
|
UTSW |
7 |
120,776,133 (GRCm38) |
missense |
probably damaging |
1.00 |
R0026:Vwa3a
|
UTSW |
7 |
120,780,211 (GRCm38) |
missense |
probably damaging |
1.00 |
R0114:Vwa3a
|
UTSW |
7 |
120,775,380 (GRCm38) |
missense |
probably benign |
0.06 |
R1145:Vwa3a
|
UTSW |
7 |
120,793,343 (GRCm38) |
missense |
probably damaging |
0.99 |
R1145:Vwa3a
|
UTSW |
7 |
120,793,343 (GRCm38) |
missense |
probably damaging |
0.99 |
R1306:Vwa3a
|
UTSW |
7 |
120,800,390 (GRCm38) |
missense |
possibly damaging |
0.49 |
R1355:Vwa3a
|
UTSW |
7 |
120,784,111 (GRCm38) |
missense |
probably damaging |
1.00 |
R1412:Vwa3a
|
UTSW |
7 |
120,780,154 (GRCm38) |
missense |
probably damaging |
1.00 |
R1466:Vwa3a
|
UTSW |
7 |
120,768,165 (GRCm38) |
missense |
probably damaging |
1.00 |
R1466:Vwa3a
|
UTSW |
7 |
120,768,165 (GRCm38) |
missense |
probably damaging |
1.00 |
R1584:Vwa3a
|
UTSW |
7 |
120,768,165 (GRCm38) |
missense |
probably damaging |
1.00 |
R1686:Vwa3a
|
UTSW |
7 |
120,780,148 (GRCm38) |
missense |
probably damaging |
1.00 |
R1710:Vwa3a
|
UTSW |
7 |
120,804,031 (GRCm38) |
splice site |
probably null |
|
R1717:Vwa3a
|
UTSW |
7 |
120,793,386 (GRCm38) |
missense |
probably benign |
|
R1834:Vwa3a
|
UTSW |
7 |
120,790,136 (GRCm38) |
missense |
probably benign |
0.06 |
R1912:Vwa3a
|
UTSW |
7 |
120,795,627 (GRCm38) |
missense |
probably damaging |
1.00 |
R1970:Vwa3a
|
UTSW |
7 |
120,780,171 (GRCm38) |
missense |
probably damaging |
1.00 |
R2034:Vwa3a
|
UTSW |
7 |
120,782,645 (GRCm38) |
nonsense |
probably null |
|
R2059:Vwa3a
|
UTSW |
7 |
120,758,949 (GRCm38) |
missense |
probably damaging |
0.98 |
R2120:Vwa3a
|
UTSW |
7 |
120,792,418 (GRCm38) |
missense |
probably benign |
|
R2408:Vwa3a
|
UTSW |
7 |
120,773,294 (GRCm38) |
missense |
probably benign |
0.00 |
R3423:Vwa3a
|
UTSW |
7 |
120,799,111 (GRCm38) |
missense |
probably damaging |
1.00 |
R3744:Vwa3a
|
UTSW |
7 |
120,752,594 (GRCm38) |
missense |
probably benign |
|
R3816:Vwa3a
|
UTSW |
7 |
120,800,379 (GRCm38) |
missense |
probably benign |
0.29 |
R3849:Vwa3a
|
UTSW |
7 |
120,762,464 (GRCm38) |
nonsense |
probably null |
|
R3904:Vwa3a
|
UTSW |
7 |
120,758,876 (GRCm38) |
missense |
probably benign |
|
R4031:Vwa3a
|
UTSW |
7 |
120,768,232 (GRCm38) |
critical splice donor site |
probably null |
|
R4408:Vwa3a
|
UTSW |
7 |
120,778,926 (GRCm38) |
missense |
probably benign |
0.16 |
R4628:Vwa3a
|
UTSW |
7 |
120,793,375 (GRCm38) |
missense |
probably benign |
0.05 |
R4629:Vwa3a
|
UTSW |
7 |
120,793,375 (GRCm38) |
missense |
probably benign |
0.05 |
R4652:Vwa3a
|
UTSW |
7 |
120,778,915 (GRCm38) |
missense |
probably damaging |
0.96 |
R4884:Vwa3a
|
UTSW |
7 |
120,791,701 (GRCm38) |
missense |
probably benign |
|
R4948:Vwa3a
|
UTSW |
7 |
120,776,264 (GRCm38) |
missense |
probably damaging |
0.98 |
R5112:Vwa3a
|
UTSW |
7 |
120,783,985 (GRCm38) |
missense |
probably damaging |
1.00 |
R5385:Vwa3a
|
UTSW |
7 |
120,790,142 (GRCm38) |
missense |
possibly damaging |
0.91 |
R5386:Vwa3a
|
UTSW |
7 |
120,790,142 (GRCm38) |
missense |
possibly damaging |
0.91 |
R5579:Vwa3a
|
UTSW |
7 |
120,768,173 (GRCm38) |
missense |
probably benign |
0.29 |
R5587:Vwa3a
|
UTSW |
7 |
120,780,235 (GRCm38) |
missense |
probably damaging |
1.00 |
R5639:Vwa3a
|
UTSW |
7 |
120,790,143 (GRCm38) |
missense |
probably damaging |
0.99 |
R6102:Vwa3a
|
UTSW |
7 |
120,776,138 (GRCm38) |
splice site |
probably null |
|
R6239:Vwa3a
|
UTSW |
7 |
120,794,234 (GRCm38) |
missense |
probably benign |
0.00 |
R6279:Vwa3a
|
UTSW |
7 |
120,782,400 (GRCm38) |
missense |
probably damaging |
0.98 |
R6298:Vwa3a
|
UTSW |
7 |
120,795,651 (GRCm38) |
missense |
probably benign |
0.01 |
R6300:Vwa3a
|
UTSW |
7 |
120,782,400 (GRCm38) |
missense |
probably damaging |
0.98 |
R6336:Vwa3a
|
UTSW |
7 |
120,762,423 (GRCm38) |
missense |
possibly damaging |
0.93 |
R6907:Vwa3a
|
UTSW |
7 |
120,792,581 (GRCm38) |
unclassified |
probably benign |
|
R7135:Vwa3a
|
UTSW |
7 |
120,773,030 (GRCm38) |
missense |
possibly damaging |
0.69 |
R7215:Vwa3a
|
UTSW |
7 |
120,795,630 (GRCm38) |
missense |
possibly damaging |
0.83 |
R7282:Vwa3a
|
UTSW |
7 |
120,786,465 (GRCm38) |
missense |
probably benign |
0.03 |
R7351:Vwa3a
|
UTSW |
7 |
120,776,336 (GRCm38) |
missense |
probably damaging |
0.99 |
R7406:Vwa3a
|
UTSW |
7 |
120,778,915 (GRCm38) |
missense |
probably damaging |
0.96 |
R7557:Vwa3a
|
UTSW |
7 |
120,795,618 (GRCm38) |
missense |
possibly damaging |
0.90 |
R7612:Vwa3a
|
UTSW |
7 |
120,752,615 (GRCm38) |
missense |
probably null |
0.47 |
R7699:Vwa3a
|
UTSW |
7 |
120,752,618 (GRCm38) |
missense |
probably damaging |
1.00 |
R7823:Vwa3a
|
UTSW |
7 |
120,772,962 (GRCm38) |
missense |
probably damaging |
1.00 |
R8074:Vwa3a
|
UTSW |
7 |
120,799,098 (GRCm38) |
missense |
probably benign |
0.00 |
R8730:Vwa3a
|
UTSW |
7 |
120,782,687 (GRCm38) |
missense |
probably damaging |
0.97 |
R8768:Vwa3a
|
UTSW |
7 |
120,776,076 (GRCm38) |
missense |
probably damaging |
1.00 |
R8941:Vwa3a
|
UTSW |
7 |
120,776,088 (GRCm38) |
missense |
probably benign |
0.00 |
R9116:Vwa3a
|
UTSW |
7 |
120,767,247 (GRCm38) |
missense |
|
|
R9134:Vwa3a
|
UTSW |
7 |
120,778,436 (GRCm38) |
missense |
probably damaging |
0.96 |
R9264:Vwa3a
|
UTSW |
7 |
120,775,464 (GRCm38) |
missense |
probably benign |
|
R9450:Vwa3a
|
UTSW |
7 |
120,804,030 (GRCm38) |
critical splice donor site |
probably null |
|
R9464:Vwa3a
|
UTSW |
7 |
120,786,459 (GRCm38) |
missense |
possibly damaging |
0.84 |
R9792:Vwa3a
|
UTSW |
7 |
120,784,084 (GRCm38) |
missense |
probably damaging |
1.00 |
R9793:Vwa3a
|
UTSW |
7 |
120,784,084 (GRCm38) |
missense |
probably damaging |
1.00 |
V7732:Vwa3a
|
UTSW |
7 |
120,778,949 (GRCm38) |
splice site |
probably benign |
|
X0019:Vwa3a
|
UTSW |
7 |
120,768,209 (GRCm38) |
missense |
probably damaging |
0.99 |
Z1177:Vwa3a
|
UTSW |
7 |
120,759,133 (GRCm38) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- CACAACCCTTGGATATCTGGTG -3'
(R):5'- AAGCCTTGACTTGAAGTGGTG -3'
Sequencing Primer
(F):5'- CCTTGGATATCTGGTGACGGGAAC -3'
(R):5'- CCTTGACTTGAAGTGGTGGATGG -3'
|
Posted On |
2014-08-25 |