Incidental Mutation 'R9801:Vwa1'
| ID |
735202 |
| 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 # |
R9801 (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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
T |
12: 72,945,540 (GRCm39) |
N330K |
probably benign |
Het |
| 4933402J07Rik |
A |
G |
8: 88,290,717 (GRCm39) |
E25G |
probably damaging |
Het |
| Acss3 |
T |
C |
10: 106,881,091 (GRCm39) |
T297A |
possibly damaging |
Het |
| Anks1 |
A |
G |
17: 28,227,033 (GRCm39) |
E562G |
possibly damaging |
Het |
| Atg12 |
T |
C |
18: 46,874,460 (GRCm39) |
T52A |
probably benign |
Het |
| Bbox1 |
T |
A |
2: 110,100,418 (GRCm39) |
T260S |
probably benign |
Het |
| Btbd3 |
C |
T |
2: 138,122,368 (GRCm39) |
R173* |
probably null |
Het |
| Cbr1 |
A |
C |
16: 93,406,687 (GRCm39) |
R134S |
probably damaging |
Het |
| Cdcp2 |
A |
T |
4: 106,964,262 (GRCm39) |
I371F |
possibly damaging |
Het |
| Cntrob |
T |
C |
11: 69,212,233 (GRCm39) |
E124G |
possibly damaging |
Het |
| Cstf3 |
T |
C |
2: 104,421,024 (GRCm39) |
S2P |
possibly damaging |
Het |
| Ctbs |
T |
C |
3: 146,169,679 (GRCm39) |
V312A |
probably damaging |
Het |
| Cylc2 |
T |
A |
4: 51,228,466 (GRCm39) |
V179E |
probably null |
Het |
| Dip2c |
T |
C |
13: 9,626,936 (GRCm39) |
L658P |
probably damaging |
Het |
| Dus4l |
A |
G |
12: 31,698,827 (GRCm39) |
I59T |
probably damaging |
Het |
| Extl3 |
A |
T |
14: 65,314,782 (GRCm39) |
N133K |
probably benign |
Het |
| Fam83d |
T |
A |
2: 158,610,310 (GRCm39) |
C93S |
probably damaging |
Het |
| Galr1 |
T |
C |
18: 82,423,912 (GRCm39) |
S122G |
possibly damaging |
Het |
| Glra3 |
G |
A |
8: 56,563,563 (GRCm39) |
V353M |
probably damaging |
Het |
| H2-M10.4 |
A |
T |
17: 36,771,511 (GRCm39) |
N222K |
probably damaging |
Het |
| Klra7 |
C |
T |
6: 130,205,477 (GRCm39) |
|
probably null |
Het |
| Lyst |
T |
A |
13: 13,809,290 (GRCm39) |
V320E |
probably damaging |
Het |
| Me3 |
A |
C |
7: 89,435,657 (GRCm39) |
D164A |
probably damaging |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Nbr1 |
C |
A |
11: 101,447,025 (GRCm39) |
Q4K |
probably damaging |
Het |
| Nr1i3 |
T |
C |
1: 171,045,252 (GRCm39) |
L300P |
probably damaging |
Het |
| Pemt |
T |
A |
11: 59,874,287 (GRCm39) |
N101I |
probably damaging |
Het |
| Pkd1l1 |
C |
A |
11: 8,908,964 (GRCm39) |
E347* |
probably null |
Het |
| Plxna4 |
C |
T |
6: 32,140,526 (GRCm39) |
|
probably null |
Het |
| Polq |
C |
T |
16: 36,913,190 (GRCm39) |
R2420C |
probably damaging |
Het |
| Psg22 |
T |
C |
7: 18,456,899 (GRCm39) |
Y261H |
probably benign |
Het |
| Pum1 |
C |
T |
4: 130,481,328 (GRCm39) |
S722L |
probably benign |
Het |
| Rbl2 |
T |
C |
8: 91,822,229 (GRCm39) |
Y464H |
probably benign |
Het |
| Rnf145 |
T |
A |
11: 44,448,112 (GRCm39) |
I323N |
probably damaging |
Het |
| Rxylt1 |
T |
A |
10: 121,926,608 (GRCm39) |
N168I |
probably damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,580 (GRCm39) |
V40E |
probably damaging |
Het |
| Slmap |
G |
A |
14: 26,143,595 (GRCm39) |
A764V |
probably damaging |
Het |
| Smarca4 |
G |
T |
9: 21,586,397 (GRCm39) |
L1139F |
probably damaging |
Het |
| Svil |
A |
G |
18: 5,049,062 (GRCm39) |
E113G |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,932,235 (GRCm39) |
S196P |
probably benign |
Het |
| Tcp10b |
A |
G |
17: 13,281,867 (GRCm39) |
E79G |
possibly damaging |
Het |
| Tet3 |
T |
A |
6: 83,346,436 (GRCm39) |
N1334Y |
possibly damaging |
Het |
| Tll2 |
A |
G |
19: 41,194,993 (GRCm39) |
V31A |
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,045,263 (GRCm39) |
I475T |
probably benign |
Het |
| Uba3 |
T |
A |
6: 97,162,635 (GRCm39) |
D387V |
probably benign |
Het |
| Zfp260 |
T |
C |
7: 29,804,937 (GRCm39) |
I279T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTCAGCTAGGGATTCACAG -3'
(R):5'- AGTTCAGGCCAGGCTATACAGG -3'
Sequencing Primer
(F):5'- TAGGGATTCACAGGACCTGC -3'
(R):5'- CAGGCTATACAGGATGCCATC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation