Incidental Mutation 'R3891:Vwa1'
ID |
310389 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa1
|
Ensembl Gene |
ENSMUSG00000042116 |
Gene Name |
von Willebrand factor A domain containing 1 |
Synonyms |
4932416A11Rik, WARP |
MMRRC Submission |
040803-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3891 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155852952-155859042 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 155857651 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 49
(E49G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040405
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042196]
|
AlphaFold |
Q8R2Z5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042196
AA Change: E49G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040405 Gene: ENSMUSG00000042116 AA Change: E49G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
VWA
|
32 |
210 |
3.05e-36 |
SMART |
FN3
|
212 |
292 |
1.95e0 |
SMART |
FN3
|
305 |
385 |
1.4e-5 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174185
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180784
|
Meta Mutation Damage Score |
0.2820 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (51/51) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010] PHENOTYPE: Mice homozygous for a reporter allele exhibit abnormal motor coordination/balance, increased thermal nociceptive threshold, and altered peripheral nerve structure and function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
A |
G |
4: 128,655,847 (GRCm39) |
T72A |
probably damaging |
Het |
Ascc3 |
T |
A |
10: 50,718,289 (GRCm39) |
I1994N |
probably damaging |
Het |
C1qb |
A |
T |
4: 136,607,727 (GRCm39) |
V212E |
probably damaging |
Het |
Cfap54 |
T |
A |
10: 92,874,708 (GRCm39) |
I563F |
possibly damaging |
Het |
Clip2 |
T |
C |
5: 134,551,847 (GRCm39) |
K92E |
probably damaging |
Het |
Clrn3 |
T |
C |
7: 135,120,194 (GRCm39) |
T131A |
possibly damaging |
Het |
Col9a1 |
T |
C |
1: 24,224,517 (GRCm39) |
|
probably null |
Het |
Def8 |
T |
C |
8: 124,185,083 (GRCm39) |
|
probably benign |
Het |
Diaph1 |
C |
A |
18: 38,033,691 (GRCm39) |
|
probably benign |
Het |
Dmrta1 |
A |
T |
4: 89,579,831 (GRCm39) |
I264F |
possibly damaging |
Het |
Dscaml1 |
A |
T |
9: 45,628,782 (GRCm39) |
D1112V |
possibly damaging |
Het |
Ehbp1l1 |
A |
G |
19: 5,768,340 (GRCm39) |
S988P |
possibly damaging |
Het |
Gabrr2 |
A |
G |
4: 33,081,348 (GRCm39) |
Y4C |
probably damaging |
Het |
Gm10088 |
T |
C |
16: 18,847,001 (GRCm39) |
|
noncoding transcript |
Het |
Gm5616 |
A |
G |
9: 48,361,809 (GRCm39) |
|
noncoding transcript |
Het |
H2-T24 |
T |
A |
17: 36,326,330 (GRCm39) |
I190F |
possibly damaging |
Het |
Hmcn1 |
A |
T |
1: 150,510,946 (GRCm39) |
D3592E |
probably damaging |
Het |
Il1rap |
A |
G |
16: 26,495,606 (GRCm39) |
Y71C |
probably damaging |
Het |
Krt1 |
T |
A |
15: 101,758,847 (GRCm39) |
S106C |
unknown |
Het |
Lsamp |
T |
C |
16: 39,805,054 (GRCm39) |
V11A |
probably benign |
Het |
Mob1b |
T |
A |
5: 88,901,061 (GRCm39) |
I156K |
probably damaging |
Het |
Naip2 |
T |
A |
13: 100,297,606 (GRCm39) |
E810V |
probably damaging |
Het |
Nfe2l1 |
A |
G |
11: 96,710,823 (GRCm39) |
S181P |
possibly damaging |
Het |
Nos1ap |
T |
C |
1: 170,177,025 (GRCm39) |
Y126C |
probably damaging |
Het |
Nuak2 |
G |
T |
1: 132,259,223 (GRCm39) |
A342S |
possibly damaging |
Het |
Or10ah1-ps1 |
G |
T |
5: 143,123,152 (GRCm39) |
S290R |
probably benign |
Het |
Or2aj5 |
A |
G |
16: 19,425,205 (GRCm39) |
I71T |
probably damaging |
Het |
Or2t1 |
T |
A |
14: 14,328,114 (GRCm38) |
M1K |
probably null |
Het |
Pcdhb16 |
A |
T |
18: 37,612,422 (GRCm39) |
I461F |
probably benign |
Het |
Pcdhga10 |
A |
C |
18: 37,882,534 (GRCm39) |
H765P |
probably benign |
Het |
Pex2 |
C |
T |
3: 5,626,008 (GRCm39) |
C267Y |
probably damaging |
Het |
Pgghg |
T |
C |
7: 140,525,616 (GRCm39) |
I473T |
probably damaging |
Het |
Polr2e |
G |
T |
10: 79,873,213 (GRCm39) |
P80T |
probably benign |
Het |
Pum1 |
T |
C |
4: 130,491,393 (GRCm39) |
L774P |
probably damaging |
Het |
Rasef |
A |
G |
4: 73,698,634 (GRCm39) |
V9A |
probably benign |
Het |
Rpl13 |
A |
G |
8: 123,831,907 (GRCm39) |
E201G |
probably damaging |
Het |
Skint2 |
A |
G |
4: 112,481,383 (GRCm39) |
E82G |
probably damaging |
Het |
Skor2 |
A |
G |
18: 76,946,350 (GRCm39) |
D24G |
unknown |
Het |
Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
Slc29a3 |
T |
A |
10: 60,552,040 (GRCm39) |
K335* |
probably null |
Het |
Slc30a6 |
T |
A |
17: 74,726,541 (GRCm39) |
D282E |
probably benign |
Het |
Slc9a7 |
A |
G |
X: 20,052,352 (GRCm39) |
F247S |
probably damaging |
Het |
Slx4 |
A |
T |
16: 3,797,773 (GRCm39) |
I1537N |
probably damaging |
Het |
Specc1 |
C |
T |
11: 62,042,739 (GRCm39) |
T872M |
probably benign |
Het |
Stard10 |
G |
A |
7: 100,993,137 (GRCm39) |
R231Q |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Tesl1 |
A |
G |
X: 23,773,180 (GRCm39) |
Y227C |
probably damaging |
Het |
Zc3h12a |
A |
G |
4: 125,020,678 (GRCm39) |
F55S |
probably damaging |
Het |
Zmym4 |
A |
G |
4: 126,798,269 (GRCm39) |
I786T |
probably benign |
Het |
|
Other mutations in Vwa1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01364:Vwa1
|
APN |
4 |
155,855,200 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01611:Vwa1
|
APN |
4 |
155,855,255 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1174:Vwa1
|
UTSW |
4 |
155,857,723 (GRCm39) |
missense |
probably damaging |
0.96 |
R1433:Vwa1
|
UTSW |
4 |
155,857,358 (GRCm39) |
missense |
probably damaging |
0.99 |
R1953:Vwa1
|
UTSW |
4 |
155,857,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R2006:Vwa1
|
UTSW |
4 |
155,855,307 (GRCm39) |
missense |
probably benign |
|
R2105:Vwa1
|
UTSW |
4 |
155,857,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R2346:Vwa1
|
UTSW |
4 |
155,857,526 (GRCm39) |
missense |
probably benign |
0.00 |
R4919:Vwa1
|
UTSW |
4 |
155,855,057 (GRCm39) |
missense |
probably benign |
0.10 |
R5285:Vwa1
|
UTSW |
4 |
155,855,352 (GRCm39) |
missense |
probably benign |
0.38 |
R5320:Vwa1
|
UTSW |
4 |
155,855,369 (GRCm39) |
missense |
probably benign |
0.00 |
R5554:Vwa1
|
UTSW |
4 |
155,857,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R5666:Vwa1
|
UTSW |
4 |
155,858,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R5670:Vwa1
|
UTSW |
4 |
155,858,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R6433:Vwa1
|
UTSW |
4 |
155,857,226 (GRCm39) |
missense |
probably benign |
0.07 |
R8135:Vwa1
|
UTSW |
4 |
155,857,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R8400:Vwa1
|
UTSW |
4 |
155,857,225 (GRCm39) |
missense |
probably benign |
0.03 |
R8784:Vwa1
|
UTSW |
4 |
155,857,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R8965:Vwa1
|
UTSW |
4 |
155,857,440 (GRCm39) |
nonsense |
probably null |
|
R9062:Vwa1
|
UTSW |
4 |
155,854,820 (GRCm39) |
missense |
probably benign |
|
R9306:Vwa1
|
UTSW |
4 |
155,855,328 (GRCm39) |
missense |
probably benign |
0.15 |
R9518:Vwa1
|
UTSW |
4 |
155,857,336 (GRCm39) |
missense |
probably damaging |
0.98 |
R9519:Vwa1
|
UTSW |
4 |
155,857,336 (GRCm39) |
missense |
probably damaging |
0.98 |
R9597:Vwa1
|
UTSW |
4 |
155,857,336 (GRCm39) |
missense |
probably damaging |
0.98 |
R9634:Vwa1
|
UTSW |
4 |
155,857,336 (GRCm39) |
missense |
probably damaging |
0.98 |
R9697:Vwa1
|
UTSW |
4 |
155,857,336 (GRCm39) |
missense |
probably damaging |
0.98 |
R9699:Vwa1
|
UTSW |
4 |
155,857,336 (GRCm39) |
missense |
probably damaging |
0.98 |
R9702:Vwa1
|
UTSW |
4 |
155,857,336 (GRCm39) |
missense |
probably damaging |
0.98 |
R9703:Vwa1
|
UTSW |
4 |
155,857,336 (GRCm39) |
missense |
probably damaging |
0.98 |
R9755:Vwa1
|
UTSW |
4 |
155,857,336 (GRCm39) |
missense |
probably damaging |
0.98 |
R9800:Vwa1
|
UTSW |
4 |
155,857,336 (GRCm39) |
missense |
probably damaging |
0.98 |
R9801:Vwa1
|
UTSW |
4 |
155,857,336 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGTGTTGGTATCACCCATAC -3'
(R):5'- TACCTGTATCTTTGGGCAAAGGC -3'
Sequencing Primer
(F):5'- CATACGTTGGGGTGCAACAC -3'
(R):5'- TATCTTTGGGCAAAGGCAAGCAAG -3'
|
Posted On |
2015-04-17 |