Incidental Mutation 'R1350:Vwa2'
ID |
159553 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwa2
|
Ensembl Gene |
ENSMUSG00000025082 |
Gene Name |
von Willebrand factor A domain containing 2 |
Synonyms |
Amaco |
MMRRC Submission |
039415-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1350 (G1)
|
Quality Score |
105 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
56862848-56900510 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 56897558 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 621
(M621K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026068]
[ENSMUST00000111584]
[ENSMUST00000118800]
[ENSMUST00000122359]
|
AlphaFold |
Q70UZ7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026068
AA Change: M621K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000026068 Gene: ENSMUSG00000025082 AA Change: M621K
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111584
|
SMART Domains |
Protein: ENSMUSP00000107210 Gene: ENSMUSG00000025083
Domain | Start | End | E-Value | Type |
Blast:PH
|
30 |
153 |
3e-60 |
BLAST |
low complexity region
|
160 |
170 |
N/A |
INTRINSIC |
PH
|
194 |
291 |
9.27e-9 |
SMART |
PH
|
372 |
467 |
3.11e-10 |
SMART |
low complexity region
|
531 |
543 |
N/A |
INTRINSIC |
low complexity region
|
611 |
626 |
N/A |
INTRINSIC |
coiled coil region
|
675 |
772 |
N/A |
INTRINSIC |
low complexity region
|
791 |
804 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118800
|
SMART Domains |
Protein: ENSMUSP00000113745 Gene: ENSMUSG00000025083
Domain | Start | End | E-Value | Type |
Blast:PH
|
12 |
135 |
3e-60 |
BLAST |
low complexity region
|
142 |
152 |
N/A |
INTRINSIC |
PH
|
176 |
273 |
9.27e-9 |
SMART |
PH
|
354 |
449 |
3.11e-10 |
SMART |
low complexity region
|
513 |
525 |
N/A |
INTRINSIC |
low complexity region
|
593 |
608 |
N/A |
INTRINSIC |
coiled coil region
|
657 |
754 |
N/A |
INTRINSIC |
low complexity region
|
773 |
786 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122359
|
SMART Domains |
Protein: ENSMUSP00000112387 Gene: ENSMUSG00000025083
Domain | Start | End | E-Value | Type |
Blast:PH
|
1 |
79 |
3e-32 |
BLAST |
low complexity region
|
86 |
96 |
N/A |
INTRINSIC |
PH
|
120 |
217 |
9.27e-9 |
SMART |
PH
|
298 |
393 |
3.11e-10 |
SMART |
low complexity region
|
457 |
469 |
N/A |
INTRINSIC |
low complexity region
|
537 |
552 |
N/A |
INTRINSIC |
coiled coil region
|
601 |
698 |
N/A |
INTRINSIC |
low complexity region
|
717 |
730 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.3476 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.9%
- 20x: 88.1%
|
Validation Efficiency |
95% (57/60) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago4 |
A |
G |
4: 126,400,925 (GRCm39) |
V640A |
probably benign |
Het |
AI661453 |
C |
T |
17: 47,778,853 (GRCm39) |
Q860* |
probably null |
Het |
Atp10d |
A |
G |
5: 72,418,469 (GRCm39) |
|
probably benign |
Het |
Axdnd1 |
A |
G |
1: 156,205,950 (GRCm39) |
|
probably null |
Het |
Bivm |
T |
A |
1: 44,165,863 (GRCm39) |
N104K |
possibly damaging |
Het |
Capn15 |
A |
G |
17: 26,183,666 (GRCm39) |
S338P |
probably benign |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Ccn6 |
C |
T |
10: 39,034,302 (GRCm39) |
C100Y |
probably damaging |
Het |
Col13a1 |
G |
A |
10: 61,729,848 (GRCm39) |
|
probably benign |
Het |
Crb2 |
A |
G |
2: 37,682,081 (GRCm39) |
N821D |
probably damaging |
Het |
D5Ertd579e |
T |
A |
5: 36,771,081 (GRCm39) |
I1105F |
probably damaging |
Het |
Dnaja2 |
A |
T |
8: 86,266,717 (GRCm39) |
F337I |
probably damaging |
Het |
Dntt |
C |
T |
19: 41,025,578 (GRCm39) |
|
probably benign |
Het |
Dock3 |
C |
T |
9: 106,791,831 (GRCm39) |
E1381K |
possibly damaging |
Het |
Fibp |
T |
C |
19: 5,511,419 (GRCm39) |
Y96H |
probably damaging |
Het |
Garnl3 |
A |
G |
2: 32,942,226 (GRCm39) |
V85A |
probably damaging |
Het |
Gsdme |
A |
T |
6: 50,223,108 (GRCm39) |
|
probably null |
Het |
Gucy2c |
A |
T |
6: 136,720,912 (GRCm39) |
|
probably null |
Het |
Hectd1 |
A |
G |
12: 51,809,217 (GRCm39) |
V1748A |
probably benign |
Het |
Hepacam2 |
G |
A |
6: 3,467,530 (GRCm39) |
Q384* |
probably null |
Het |
Itga10 |
T |
A |
3: 96,564,793 (GRCm39) |
M961K |
probably benign |
Het |
Kcnk1 |
C |
T |
8: 126,751,967 (GRCm39) |
T191I |
probably benign |
Het |
Khdrbs1 |
G |
A |
4: 129,614,545 (GRCm39) |
P336L |
probably benign |
Het |
Klhdc2 |
T |
A |
12: 69,352,484 (GRCm39) |
|
probably null |
Het |
Lipc |
T |
C |
9: 70,705,649 (GRCm39) |
H478R |
probably benign |
Het |
Lrp12 |
A |
T |
15: 39,741,646 (GRCm39) |
C356* |
probably null |
Het |
Nf1 |
T |
A |
11: 79,303,513 (GRCm39) |
C397S |
probably damaging |
Het |
Nox3 |
A |
G |
17: 3,700,396 (GRCm39) |
F439S |
probably damaging |
Het |
Or12e9 |
T |
A |
2: 87,202,701 (GRCm39) |
V275E |
probably benign |
Het |
Or13a18 |
T |
C |
7: 140,190,622 (GRCm39) |
V181A |
probably damaging |
Het |
Or3a1b |
T |
C |
11: 74,013,039 (GRCm39) |
L308P |
possibly damaging |
Het |
Or4b12 |
A |
T |
2: 90,096,690 (GRCm39) |
L28Q |
probably damaging |
Het |
Or51b17 |
A |
G |
7: 103,542,937 (GRCm39) |
W2R |
probably benign |
Het |
Or7g29 |
T |
G |
9: 19,286,710 (GRCm39) |
S156R |
possibly damaging |
Het |
Or8b37 |
G |
A |
9: 37,959,111 (GRCm39) |
V198I |
probably benign |
Het |
Pcif1 |
T |
C |
2: 164,728,687 (GRCm39) |
F288L |
probably damaging |
Het |
Prxl2b |
C |
A |
4: 154,982,585 (GRCm39) |
R107L |
probably damaging |
Het |
Skint7 |
G |
T |
4: 111,837,521 (GRCm39) |
A100S |
possibly damaging |
Het |
Ssu2 |
A |
T |
6: 112,351,807 (GRCm39) |
L306* |
probably null |
Het |
Tasp1 |
T |
C |
2: 139,899,341 (GRCm39) |
E4G |
probably damaging |
Het |
Tfb1m |
A |
T |
17: 3,595,955 (GRCm39) |
D99E |
probably benign |
Het |
Ube3b |
A |
G |
5: 114,544,198 (GRCm39) |
|
probably null |
Het |
Uox |
A |
G |
3: 146,330,330 (GRCm39) |
D162G |
probably damaging |
Het |
Usp18 |
A |
G |
6: 121,239,651 (GRCm39) |
T249A |
possibly damaging |
Het |
Vmn1r202 |
T |
C |
13: 22,685,886 (GRCm39) |
N177S |
probably benign |
Het |
Wdfy3 |
C |
A |
5: 102,046,418 (GRCm39) |
D1797Y |
probably damaging |
Het |
Ylpm1 |
A |
T |
12: 85,060,856 (GRCm39) |
|
probably benign |
Het |
Zbtb9 |
G |
A |
17: 27,193,380 (GRCm39) |
V262I |
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 |
IGL02081:Vwa2
|
APN |
19 |
56,890,668 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGAGCTTCATCAGGAAATGCAC -3'
(R):5'- TGTAAGCTGCCACATGGATCAGGG -3'
Sequencing Primer
(F):5'- GATGTGAATCCTGATGTGACAC -3'
(R):5'- CCACATGGATCAGGGAGTCG -3'
|
Posted On |
2014-03-14 |