Incidental Mutation 'IGL02081:Vwa2'
| ID |
283385 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Vwa2
|
| Ensembl Gene |
ENSMUSG00000025082 |
| Gene Name |
von Willebrand factor A domain containing 2 |
| Synonyms |
Amaco |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02081
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
56862848-56900510 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56890668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 233
(D233G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026068]
|
| AlphaFold |
Q70UZ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026068
AA Change: D233G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000026068
Gene: ENSMUSG00000025082
AA Change: D233G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
VWA
|
49 |
222 |
6.9e-35 |
SMART |
|
EGF
|
297 |
332 |
2.99e-4 |
SMART |
|
VWA
|
340 |
517 |
1.26e-28 |
SMART |
|
VWA
|
528 |
705 |
1.55e-37 |
SMART |
|
EGF
|
714 |
747 |
5e-6 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
G |
T |
8: 44,023,233 (GRCm39) |
L86I |
probably damaging |
Het |
| Adamts17 |
C |
T |
7: 66,711,858 (GRCm39) |
R726C |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,982,171 (GRCm39) |
K778R |
probably damaging |
Het |
| Agr2 |
G |
A |
12: 36,045,655 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,597,285 (GRCm39) |
C1173S |
possibly damaging |
Het |
| Apol7b |
A |
G |
15: 77,307,736 (GRCm39) |
L253P |
possibly damaging |
Het |
| Atp10a |
A |
T |
7: 58,477,604 (GRCm39) |
T1268S |
possibly damaging |
Het |
| Atr |
A |
T |
9: 95,765,258 (GRCm39) |
K1149N |
probably damaging |
Het |
| Bri3bp |
G |
A |
5: 125,518,961 (GRCm39) |
|
probably null |
Het |
| Ccser1 |
T |
A |
6: 61,288,152 (GRCm39) |
L105* |
probably null |
Het |
| Cyp4a10 |
G |
A |
4: 115,378,369 (GRCm39) |
A152T |
possibly damaging |
Het |
| Dock2 |
C |
T |
11: 34,204,355 (GRCm39) |
D1396N |
probably benign |
Het |
| Ext1 |
A |
T |
15: 52,936,842 (GRCm39) |
Y634* |
probably null |
Het |
| Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,723,930 (GRCm39) |
K529E |
probably damaging |
Het |
| H2-Q2 |
A |
G |
17: 35,561,684 (GRCm39) |
D58G |
probably damaging |
Het |
| Hid1 |
T |
C |
11: 115,239,332 (GRCm39) |
D776G |
possibly damaging |
Het |
| Il18r1 |
A |
T |
1: 40,537,665 (GRCm39) |
S477C |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,523,281 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
T |
G |
10: 67,055,305 (GRCm39) |
F242V |
probably benign |
Het |
| Krtap4-1 |
G |
A |
11: 99,519,010 (GRCm39) |
|
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,938,418 (GRCm39) |
|
probably null |
Het |
| Mpdz |
T |
C |
4: 81,254,106 (GRCm39) |
T1009A |
probably damaging |
Het |
| Mrpl22 |
T |
C |
11: 58,062,647 (GRCm39) |
I19T |
probably benign |
Het |
| Nup88 |
A |
G |
11: 70,845,480 (GRCm39) |
|
probably benign |
Het |
| Or5b94 |
A |
T |
19: 12,652,180 (GRCm39) |
I204F |
probably benign |
Het |
| Pnpo |
T |
C |
11: 96,830,150 (GRCm39) |
Y183C |
probably damaging |
Het |
| Poln |
C |
T |
5: 34,286,483 (GRCm39) |
M228I |
probably benign |
Het |
| Scara5 |
T |
C |
14: 65,968,104 (GRCm39) |
W126R |
possibly damaging |
Het |
| Scmh1 |
T |
G |
4: 120,372,275 (GRCm39) |
C359W |
probably damaging |
Het |
| Snrpn |
T |
C |
7: 59,637,194 (GRCm39) |
I41V |
possibly damaging |
Het |
| St8sia1 |
T |
C |
6: 142,774,953 (GRCm39) |
M209V |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,495,391 (GRCm39) |
S89T |
probably damaging |
Het |
| Tet1 |
T |
C |
10: 62,649,597 (GRCm39) |
T1667A |
probably damaging |
Het |
| Tmem217 |
C |
T |
17: 29,745,347 (GRCm39) |
G128S |
probably damaging |
Het |
| Ttpal |
A |
G |
2: 163,457,308 (GRCm39) |
N260S |
probably benign |
Het |
| Wdr83 |
A |
G |
8: 85,802,472 (GRCm39) |
F258L |
probably benign |
Het |
| Zfp277 |
A |
T |
12: 40,378,795 (GRCm39) |
L354* |
probably null |
Het |
| Zfp516 |
A |
G |
18: 82,973,858 (GRCm39) |
R19G |
probably benign |
Het |
|
| Other mutations in Vwa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01147:Vwa2
|
APN |
19 |
56,890,066 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02738:Vwa2
|
APN |
19 |
56,886,361 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
H8786:Vwa2
|
UTSW |
19 |
56,898,164 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0510:Vwa2
|
UTSW |
19 |
56,886,500 (GRCm39) |
splice site |
probably benign |
|
|
R1061:Vwa2
|
UTSW |
19 |
56,897,426 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1350:Vwa2
|
UTSW |
19 |
56,897,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1403:Vwa2
|
UTSW |
19 |
56,869,570 (GRCm39) |
missense |
unknown |
|
|
R1403:Vwa2
|
UTSW |
19 |
56,869,570 (GRCm39) |
missense |
unknown |
|
|
R1918:Vwa2
|
UTSW |
19 |
56,897,366 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2046:Vwa2
|
UTSW |
19 |
56,894,010 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3943:Vwa2
|
UTSW |
19 |
56,897,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4278:Vwa2
|
UTSW |
19 |
56,891,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4745:Vwa2
|
UTSW |
19 |
56,895,318 (GRCm39) |
missense |
probably benign |
|
|
R5081:Vwa2
|
UTSW |
19 |
56,897,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5750:Vwa2
|
UTSW |
19 |
56,897,663 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5959:Vwa2
|
UTSW |
19 |
56,869,604 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6151:Vwa2
|
UTSW |
19 |
56,891,897 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6361:Vwa2
|
UTSW |
19 |
56,889,958 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6861:Vwa2
|
UTSW |
19 |
56,890,025 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7286:Vwa2
|
UTSW |
19 |
56,897,791 (GRCm39) |
missense |
probably benign |
|
|
R7653:Vwa2
|
UTSW |
19 |
56,897,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7752:Vwa2
|
UTSW |
19 |
56,897,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8038:Vwa2
|
UTSW |
19 |
56,886,320 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8501:Vwa2
|
UTSW |
19 |
56,897,414 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8674:Vwa2
|
UTSW |
19 |
56,875,427 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9167:Vwa2
|
UTSW |
19 |
56,899,063 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9460:Vwa2
|
UTSW |
19 |
56,886,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9526:Vwa2
|
UTSW |
19 |
56,895,208 (GRCm39) |
missense |
probably benign |
0.18 |
|
X0020:Vwa2
|
UTSW |
19 |
56,897,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Vwa2
|
UTSW |
19 |
56,875,417 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2015-04-16 |
Incidental Mutation