Incidental Mutation 'R1174:Vwa1'
| ID |
99791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa1
|
| Ensembl Gene |
ENSMUSG00000042116 |
| Gene Name |
von Willebrand factor A domain containing 1 |
| Synonyms |
4932416A11Rik, WARP |
| MMRRC Submission |
039247-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1174 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155852952-155859042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 155857723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 25
(G25D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042196]
|
| AlphaFold |
Q8R2Z5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042196
AA Change: G25D
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040405
Gene: ENSMUSG00000042116
AA Change: G25D
| 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
| Validation Efficiency |
|
| 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 |
|---|
| 2610318N02Rik |
T |
A |
16: 16,935,446 (GRCm39) |
H214L |
probably benign |
Het |
| Actn3 |
A |
G |
19: 4,914,784 (GRCm39) |
L477P |
probably damaging |
Het |
| Adamts12 |
T |
C |
15: 11,071,843 (GRCm39) |
V129A |
probably benign |
Het |
| Agxt2 |
T |
C |
15: 10,373,837 (GRCm39) |
F81S |
probably damaging |
Het |
| Alpk1 |
T |
A |
3: 127,474,459 (GRCm39) |
S515C |
probably damaging |
Het |
| Aoc1l3 |
C |
A |
6: 48,967,173 (GRCm39) |
P707H |
probably damaging |
Het |
| Bivm |
A |
G |
1: 44,165,942 (GRCm39) |
T131A |
probably benign |
Het |
| Borcs5 |
T |
A |
6: 134,687,096 (GRCm39) |
N150K |
probably damaging |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Cox4i1 |
C |
A |
8: 121,400,789 (GRCm39) |
N151K |
probably benign |
Het |
| Cpeb4 |
T |
C |
11: 31,870,472 (GRCm39) |
L432P |
probably damaging |
Het |
| Dnajb11 |
T |
A |
16: 22,689,423 (GRCm39) |
D281E |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,699,824 (GRCm39) |
S1771P |
possibly damaging |
Het |
| Fes |
A |
T |
7: 80,027,699 (GRCm39) |
I815N |
probably damaging |
Het |
| Ghrhr |
T |
A |
6: 55,365,254 (GRCm39) |
L416* |
probably null |
Het |
| Glipr1l2 |
C |
A |
10: 111,919,371 (GRCm39) |
L31I |
possibly damaging |
Het |
| Gm1818 |
A |
G |
12: 48,602,982 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr149 |
A |
G |
3: 62,511,888 (GRCm39) |
L37P |
probably damaging |
Het |
| Hdac1-ps |
A |
T |
17: 78,799,507 (GRCm39) |
Y166F |
probably benign |
Het |
| Hoxa9 |
A |
G |
6: 52,202,693 (GRCm39) |
I131T |
probably damaging |
Het |
| Idh1 |
G |
T |
1: 65,200,319 (GRCm39) |
N348K |
probably benign |
Het |
| Klf6 |
A |
G |
13: 5,911,711 (GRCm39) |
D25G |
probably benign |
Het |
| Laptm4a |
T |
C |
12: 8,986,716 (GRCm39) |
V258A |
probably damaging |
Het |
| Lypd6b |
C |
T |
2: 49,833,609 (GRCm39) |
A83V |
possibly damaging |
Het |
| Map3k19 |
A |
G |
1: 127,751,617 (GRCm39) |
V578A |
probably benign |
Het |
| Mfsd13a |
T |
A |
19: 46,363,125 (GRCm39) |
I511N |
probably benign |
Het |
| Mrm3 |
T |
C |
11: 76,140,850 (GRCm39) |
V286A |
probably damaging |
Het |
| Muc6 |
C |
T |
7: 141,234,368 (GRCm39) |
G708S |
probably damaging |
Het |
| Neurl4 |
T |
C |
11: 69,794,547 (GRCm39) |
|
probably null |
Het |
| Pclo |
T |
C |
5: 14,727,660 (GRCm39) |
|
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,228,878 (GRCm39) |
|
probably null |
Het |
| Pik3r4 |
G |
T |
9: 105,540,373 (GRCm39) |
G754C |
probably damaging |
Het |
| Qtrt1 |
A |
G |
9: 21,323,782 (GRCm39) |
T136A |
probably benign |
Het |
| Rgs12 |
T |
A |
5: 35,123,809 (GRCm39) |
C531S |
probably benign |
Het |
| Rin1 |
C |
A |
19: 5,105,231 (GRCm39) |
Q764K |
probably benign |
Het |
| Robo4 |
C |
T |
9: 37,324,348 (GRCm39) |
R959W |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,975,021 (GRCm39) |
V210A |
probably benign |
Het |
| Serpinb9d |
C |
T |
13: 33,384,608 (GRCm39) |
P195L |
probably benign |
Het |
| Sos1 |
A |
C |
17: 80,753,037 (GRCm39) |
Y323* |
probably null |
Het |
| Spmip4 |
T |
A |
6: 50,566,121 (GRCm39) |
K118M |
probably damaging |
Het |
| Ssxb8 |
T |
G |
X: 8,556,062 (GRCm39) |
H88P |
probably damaging |
Het |
| Tas2r140 |
T |
C |
6: 133,031,834 (GRCm39) |
E308G |
probably benign |
Het |
| Tdo2 |
A |
T |
3: 81,881,683 (GRCm39) |
S40R |
probably damaging |
Het |
| Tle4 |
C |
T |
19: 14,445,626 (GRCm39) |
V207I |
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,718,504 (GRCm39) |
N445S |
probably benign |
Het |
| Ubap2l |
A |
T |
3: 89,930,807 (GRCm39) |
S413T |
probably benign |
Het |
| Vangl2 |
G |
T |
1: 171,832,353 (GRCm39) |
T501N |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,720 (GRCm39) |
I131N |
probably benign |
Het |
| Zfp185 |
A |
T |
X: 72,042,929 (GRCm39) |
E138D |
possibly damaging |
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 |
|
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 |
|
R3891:Vwa1
|
UTSW |
4 |
155,857,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation