Incidental Mutation 'R9699:Vwa1'
| ID |
729465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwa1
|
| Ensembl Gene |
ENSMUSG00000042116 |
| Gene Name |
von Willebrand factor A domain containing 1 |
| Synonyms |
4932416A11Rik, WARP |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9699 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155852952-155859042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 155857336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 154
(P154L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042196]
|
| AlphaFold |
Q8R2Z5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042196
AA Change: P154L
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040405
Gene: ENSMUSG00000042116
AA Change: P154L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700066M21Rik |
G |
T |
1: 57,416,927 (GRCm39) |
R33L |
probably benign |
Het |
| Abhd16b |
A |
T |
2: 181,136,518 (GRCm39) |
R473S |
probably benign |
Het |
| Adcyap1r1 |
A |
G |
6: 55,474,140 (GRCm39) |
D492G |
probably damaging |
Het |
| Ano5 |
A |
T |
7: 51,229,309 (GRCm39) |
N617I |
probably damaging |
Het |
| Cdh15 |
A |
G |
8: 123,588,769 (GRCm39) |
E281G |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,738,614 (GRCm39) |
|
probably null |
Het |
| Dock8 |
G |
A |
19: 25,133,388 (GRCm39) |
|
probably null |
Het |
| Dscaml1 |
T |
C |
9: 45,654,315 (GRCm39) |
V1449A |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,282,703 (GRCm39) |
D732G |
probably damaging |
Het |
| Fam174c |
T |
A |
10: 80,010,161 (GRCm39) |
|
probably null |
Het |
| Fhip2b |
A |
T |
14: 70,825,179 (GRCm39) |
S386T |
possibly damaging |
Het |
| Gimap6 |
T |
C |
6: 48,684,951 (GRCm39) |
E45G |
probably benign |
Het |
| Glt1d1 |
C |
A |
5: 127,771,364 (GRCm39) |
T285K |
probably damaging |
Het |
| Gm14412 |
A |
T |
2: 177,007,636 (GRCm39) |
Y86* |
probably null |
Het |
| Grip2 |
A |
G |
6: 91,742,318 (GRCm39) |
S912P |
probably benign |
Het |
| Gucy2d |
T |
A |
7: 98,108,290 (GRCm39) |
I741N |
probably damaging |
Het |
| Hrh2 |
A |
T |
13: 54,368,299 (GRCm39) |
N92Y |
probably damaging |
Het |
| Klrc2 |
T |
A |
6: 129,637,452 (GRCm39) |
Q23L |
possibly damaging |
Het |
| Patl2 |
T |
C |
2: 121,955,591 (GRCm39) |
D285G |
probably damaging |
Het |
| Prpf40a |
A |
G |
2: 53,035,735 (GRCm39) |
V685A |
probably benign |
Het |
| Rspry1 |
A |
G |
8: 95,380,857 (GRCm39) |
H511R |
probably benign |
Het |
| Scarb1 |
G |
T |
5: 125,374,296 (GRCm39) |
A279E |
probably damaging |
Het |
| Sell |
A |
G |
1: 163,893,114 (GRCm39) |
E110G |
probably damaging |
Het |
| Sftpc |
A |
T |
14: 70,760,143 (GRCm39) |
I38N |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc5a4b |
C |
A |
10: 75,946,674 (GRCm39) |
V33F |
probably damaging |
Het |
| Smad7 |
A |
G |
18: 75,527,161 (GRCm39) |
S336G |
probably damaging |
Het |
| Tnpo3 |
C |
T |
6: 29,565,768 (GRCm39) |
V529I |
probably benign |
Het |
| Trafd1 |
A |
G |
5: 121,517,727 (GRCm39) |
V22A |
probably benign |
Het |
| Tssk1 |
A |
G |
16: 17,712,545 (GRCm39) |
E110G |
probably damaging |
Het |
| Vmn1r159 |
A |
T |
7: 22,542,675 (GRCm39) |
V119D |
probably damaging |
Het |
| Vmn1r191 |
A |
G |
13: 22,363,355 (GRCm39) |
F133S |
probably benign |
Het |
| Zfp830 |
C |
T |
11: 82,655,805 (GRCm39) |
T203I |
possibly damaging |
Het |
| Zw10 |
G |
T |
9: 48,966,942 (GRCm39) |
|
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 |
|
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 |
|
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'- TCAGCTAGGGATTCACAGGAC -3'
(R):5'- TACAGTTCAGGCCAGGCTATACAG -3'
Sequencing Primer
(F):5'- TAGGGATTCACAGGACCTGCC -3'
(R):5'- CAGGCTATACAGGATGCCATC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation