Incidental Mutation 'R9755:Vwa1'
| ID |
732672 |
| 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 # |
R9755 (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: 99.8%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.8%
|
| 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 |
|---|
| Acin1 |
A |
T |
14: 54,889,292 (GRCm39) |
M774K |
probably damaging |
Het |
| Adamts9 |
T |
C |
6: 92,856,922 (GRCm39) |
R906G |
probably benign |
Het |
| Adgrl4 |
A |
T |
3: 151,216,418 (GRCm39) |
T534S |
probably benign |
Het |
| Amph |
A |
T |
13: 19,297,325 (GRCm39) |
D357V |
probably damaging |
Het |
| Arhgap33 |
C |
T |
7: 30,227,926 (GRCm39) |
V452I |
possibly damaging |
Het |
| B4galnt2 |
G |
A |
11: 95,774,801 (GRCm39) |
Q160* |
probably null |
Het |
| C1galt1 |
T |
G |
6: 7,867,019 (GRCm39) |
N288K |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 118,651,559 (GRCm39) |
D967G |
probably damaging |
Het |
| Cacul1 |
C |
T |
19: 60,533,955 (GRCm39) |
E216K |
probably damaging |
Het |
| Cenpq |
A |
T |
17: 41,243,712 (GRCm39) |
S45R |
probably benign |
Het |
| Cfap54 |
T |
A |
10: 92,757,230 (GRCm39) |
M2216L |
unknown |
Het |
| Cfhr1 |
A |
G |
1: 139,487,889 (GRCm39) |
F3S |
probably benign |
Het |
| Csf2rb |
T |
G |
15: 78,232,824 (GRCm39) |
Y710* |
probably null |
Het |
| Dhh |
A |
G |
15: 98,792,939 (GRCm39) |
V107A |
possibly damaging |
Het |
| Etl4 |
A |
T |
2: 20,790,048 (GRCm39) |
T849S |
probably benign |
Het |
| Gnrh1 |
G |
A |
14: 67,986,699 (GRCm39) |
E78K |
possibly damaging |
Het |
| Golga3 |
A |
G |
5: 110,340,847 (GRCm39) |
T514A |
probably benign |
Het |
| Gramd1c |
T |
A |
16: 43,803,879 (GRCm39) |
K393N |
probably benign |
Het |
| Kcp |
T |
C |
6: 29,492,460 (GRCm39) |
Y844C |
probably damaging |
Het |
| Lrrc15 |
T |
A |
16: 30,093,147 (GRCm39) |
H64L |
possibly damaging |
Het |
| Mak |
G |
T |
13: 41,199,623 (GRCm39) |
Q339K |
probably benign |
Het |
| Mdfic |
G |
T |
6: 15,799,758 (GRCm39) |
C295F |
probably damaging |
Het |
| Mdfic2 |
A |
T |
6: 98,225,147 (GRCm39) |
N45K |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Miip |
A |
T |
4: 147,950,319 (GRCm39) |
Y92* |
probably null |
Het |
| Mycbp2 |
A |
T |
14: 103,551,806 (GRCm39) |
S175T |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,549,374 (GRCm39) |
|
probably null |
Het |
| Ndnf |
T |
G |
6: 65,680,502 (GRCm39) |
D260E |
probably benign |
Het |
| Nphp1 |
G |
A |
2: 127,595,951 (GRCm39) |
Q505* |
probably null |
Het |
| Or12e7 |
C |
A |
2: 87,287,719 (GRCm39) |
A70E |
probably damaging |
Het |
| Or8g29-ps1 |
A |
G |
9: 39,200,970 (GRCm39) |
V72A |
possibly damaging |
Het |
| Plcg1 |
G |
A |
2: 160,573,780 (GRCm39) |
G15D |
probably benign |
Het |
| Ppm1h |
A |
G |
10: 122,638,165 (GRCm39) |
Y145C |
probably damaging |
Het |
| Prickle2 |
C |
T |
6: 92,399,319 (GRCm39) |
C186Y |
probably damaging |
Het |
| Prmt6 |
A |
C |
3: 110,157,359 (GRCm39) |
L310R |
probably damaging |
Het |
| Psg25 |
A |
T |
7: 18,260,460 (GRCm39) |
I146N |
probably benign |
Het |
| Sapcd1 |
A |
G |
17: 35,245,400 (GRCm39) |
S128P |
probably benign |
Het |
| Scart2 |
T |
A |
7: 139,841,544 (GRCm39) |
|
probably null |
Het |
| Sema3b |
T |
C |
9: 107,478,784 (GRCm39) |
S331G |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Skil |
A |
G |
3: 31,151,544 (GRCm39) |
E22G |
probably benign |
Het |
| Slc13a1 |
T |
C |
6: 24,134,407 (GRCm39) |
I159V |
probably benign |
Het |
| Slc44a4 |
A |
G |
17: 35,136,331 (GRCm39) |
I41V |
probably benign |
Het |
| Taar2 |
T |
C |
10: 23,817,038 (GRCm39) |
F193L |
probably damaging |
Het |
| Taar8a |
A |
G |
10: 23,952,995 (GRCm39) |
I200V |
probably benign |
Het |
| Trpc4 |
A |
G |
3: 54,223,215 (GRCm39) |
Y717C |
probably damaging |
Het |
| Vmn2r116 |
A |
T |
17: 23,620,065 (GRCm39) |
T600S |
probably damaging |
Het |
| Zfp318 |
A |
G |
17: 46,722,055 (GRCm39) |
T1353A |
probably damaging |
Het |
| Zfp830 |
C |
T |
11: 82,655,805 (GRCm39) |
T203I |
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 |
|
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 |
|
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 |
|
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'- TGTCAGCTAGGGATTCACAGG -3'
(R):5'- CAGTTCAGGCCAGGCTATACAG -3'
Sequencing Primer
(F):5'- TAGGGATTCACAGGACCTGC -3'
(R):5'- CAGGCTATACAGGATGCCATC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation