Incidental Mutation 'R1738:Vwde'
ID |
199859 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwde
|
Ensembl Gene |
ENSMUSG00000079679 |
Gene Name |
von Willebrand factor D and EGF domains |
Synonyms |
LOC232585 |
MMRRC Submission |
039770-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R1738 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
13156439-13224964 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 13190723 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 456
(V456D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058110
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054530]
[ENSMUST00000203074]
|
AlphaFold |
Q6DFV8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000054530
AA Change: V456D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058110 Gene: ENSMUSG00000079679 AA Change: V456D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Blast:ZP
|
58 |
163 |
1e-5 |
BLAST |
low complexity region
|
192 |
199 |
N/A |
INTRINSIC |
VWD
|
420 |
588 |
1.51e-4 |
SMART |
low complexity region
|
638 |
651 |
N/A |
INTRINSIC |
Blast:EGF_like
|
890 |
918 |
2e-9 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203074
AA Change: V456D
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000145311 Gene: ENSMUSG00000079679 AA Change: V456D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
low complexity region
|
192 |
199 |
N/A |
INTRINSIC |
VWD
|
420 |
588 |
7.4e-7 |
SMART |
low complexity region
|
638 |
651 |
N/A |
INTRINSIC |
EGF_like
|
890 |
918 |
1.5e-1 |
SMART |
EGF
|
1166 |
1217 |
8.5e-6 |
SMART |
EGF_like
|
1182 |
1233 |
2.7e-2 |
SMART |
EGF
|
1222 |
1254 |
9.7e-7 |
SMART |
EGF_CA
|
1256 |
1295 |
5.3e-12 |
SMART |
EGF
|
1446 |
1483 |
5e-2 |
SMART |
EGF
|
1485 |
1514 |
3.8e-3 |
SMART |
EGF
|
1517 |
1546 |
3.6e-3 |
SMART |
EGF
|
1549 |
1578 |
8e-7 |
SMART |
EGF
|
1581 |
1610 |
3.4e-3 |
SMART |
EGF
|
1613 |
1642 |
1.5e-3 |
SMART |
EGF
|
1645 |
1674 |
1.1e-5 |
SMART |
EGF
|
1677 |
1706 |
2.5e-4 |
SMART |
EGF
|
1709 |
1738 |
2.5e-3 |
SMART |
EGF
|
1741 |
1770 |
1.8e-2 |
SMART |
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 94.7%
- 20x: 89.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
A |
G |
16: 4,682,475 (GRCm39) |
Y202C |
probably damaging |
Het |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Adgrl3 |
T |
G |
5: 81,535,826 (GRCm39) |
M155R |
probably damaging |
Het |
Ak9 |
A |
T |
10: 41,211,917 (GRCm39) |
Q218L |
possibly damaging |
Het |
Akap13 |
G |
A |
7: 75,326,942 (GRCm39) |
G647D |
probably damaging |
Het |
Angptl3 |
A |
G |
4: 98,921,499 (GRCm39) |
T206A |
probably benign |
Het |
Arhgap19 |
A |
G |
19: 41,772,820 (GRCm39) |
I291T |
probably benign |
Het |
BC049715 |
C |
T |
6: 136,817,306 (GRCm39) |
P182L |
probably damaging |
Het |
Bsn |
T |
C |
9: 107,984,133 (GRCm39) |
D3307G |
unknown |
Het |
Cby2 |
C |
T |
14: 75,830,497 (GRCm39) |
M1I |
probably null |
Het |
Ces2h |
T |
A |
8: 105,745,697 (GRCm39) |
|
probably null |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Col4a2 |
T |
A |
8: 11,496,238 (GRCm39) |
F1620I |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,744,083 (GRCm39) |
E88G |
probably damaging |
Het |
Coro6 |
A |
G |
11: 77,360,251 (GRCm39) |
D407G |
probably benign |
Het |
Cpe |
A |
T |
8: 65,064,475 (GRCm39) |
F241L |
probably damaging |
Het |
Csde1 |
A |
G |
3: 102,936,493 (GRCm39) |
|
probably benign |
Het |
Cspg4b |
T |
G |
13: 113,504,034 (GRCm39) |
L179R |
possibly damaging |
Het |
Dgki |
A |
G |
6: 37,034,367 (GRCm39) |
I361T |
possibly damaging |
Het |
Dnah3 |
A |
G |
7: 119,634,582 (GRCm39) |
V1298A |
probably damaging |
Het |
Duox2 |
T |
A |
2: 122,123,895 (GRCm39) |
I430F |
probably damaging |
Het |
Gak |
T |
C |
5: 108,764,842 (GRCm39) |
Y153C |
probably damaging |
Het |
Gal3st2 |
T |
A |
1: 93,802,318 (GRCm39) |
|
probably null |
Het |
Gbp11 |
T |
C |
5: 105,474,510 (GRCm39) |
N389D |
probably benign |
Het |
Grm1 |
A |
G |
10: 10,812,163 (GRCm39) |
V287A |
probably damaging |
Het |
Hsp90ab1 |
T |
C |
17: 45,882,732 (GRCm39) |
K36E |
probably damaging |
Het |
Il24 |
T |
A |
1: 130,815,099 (GRCm39) |
|
probably null |
Het |
Ino80d |
T |
C |
1: 63,132,624 (GRCm39) |
D13G |
probably damaging |
Het |
Ipp |
G |
A |
4: 116,387,618 (GRCm39) |
V399I |
probably benign |
Het |
Kank3 |
A |
T |
17: 34,036,168 (GRCm39) |
D12V |
probably damaging |
Het |
Lcn12 |
A |
T |
2: 25,383,263 (GRCm39) |
S74R |
probably damaging |
Het |
Mast3 |
T |
C |
8: 71,237,200 (GRCm39) |
T637A |
probably benign |
Het |
Nes |
C |
A |
3: 87,883,728 (GRCm39) |
Y662* |
probably null |
Het |
Nudt13 |
A |
T |
14: 20,359,762 (GRCm39) |
H163L |
probably damaging |
Het |
Or1j17 |
T |
C |
2: 36,578,797 (GRCm39) |
V261A |
probably benign |
Het |
Or4a2 |
T |
C |
2: 89,248,362 (GRCm39) |
T132A |
probably benign |
Het |
Or4p7 |
G |
A |
2: 88,221,671 (GRCm39) |
V27I |
probably benign |
Het |
Or8k1 |
A |
T |
2: 86,048,060 (GRCm39) |
|
probably null |
Het |
Pde6b |
C |
T |
5: 108,578,425 (GRCm39) |
R788* |
probably null |
Het |
Pex13 |
A |
G |
11: 23,599,458 (GRCm39) |
L351P |
probably benign |
Het |
Phc1 |
A |
G |
6: 122,295,525 (GRCm39) |
M942T |
probably damaging |
Het |
Plch1 |
A |
T |
3: 63,626,659 (GRCm39) |
D571E |
probably benign |
Het |
Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,874,125 (GRCm39) |
N470S |
possibly damaging |
Het |
Primpol |
A |
G |
8: 47,060,873 (GRCm39) |
S82P |
probably damaging |
Het |
Prkg1 |
T |
C |
19: 30,764,322 (GRCm39) |
D256G |
possibly damaging |
Het |
Prune2 |
A |
G |
19: 17,102,374 (GRCm39) |
E2511G |
probably benign |
Het |
Rassf8 |
T |
C |
6: 145,761,034 (GRCm39) |
I120T |
probably benign |
Het |
Rfx4 |
G |
A |
10: 84,716,839 (GRCm39) |
|
probably null |
Het |
Rtp2 |
A |
T |
16: 23,746,423 (GRCm39) |
N69K |
probably benign |
Het |
Sh3d19 |
A |
T |
3: 86,027,913 (GRCm39) |
I597F |
probably damaging |
Het |
Sorl1 |
T |
A |
9: 42,001,261 (GRCm39) |
E246D |
probably benign |
Het |
Tet2 |
T |
A |
3: 133,187,148 (GRCm39) |
I1094L |
probably benign |
Het |
Tlr4 |
A |
T |
4: 66,759,313 (GRCm39) |
H702L |
probably benign |
Het |
Tnfrsf14 |
T |
C |
4: 155,009,788 (GRCm39) |
D47G |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,777,157 (GRCm39) |
Y1415C |
probably damaging |
Het |
Vmn2r17 |
T |
A |
5: 109,576,377 (GRCm39) |
F416Y |
probably benign |
Het |
Vmn2r54 |
A |
G |
7: 12,369,815 (GRCm39) |
S83P |
probably benign |
Het |
Vtn |
A |
G |
11: 78,390,422 (GRCm39) |
D53G |
possibly damaging |
Het |
Wdr91 |
G |
A |
6: 34,861,243 (GRCm39) |
P653L |
probably damaging |
Het |
Ythdf1 |
G |
A |
2: 180,553,285 (GRCm39) |
A283V |
probably benign |
Het |
Zfp975 |
C |
A |
7: 42,312,373 (GRCm39) |
W80L |
probably benign |
Het |
|
Other mutations in Vwde |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00725:Vwde
|
APN |
6 |
13,187,411 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01391:Vwde
|
APN |
6 |
13,190,526 (GRCm39) |
missense |
probably benign |
0.07 |
IGL01432:Vwde
|
APN |
6 |
13,193,239 (GRCm39) |
missense |
probably benign |
0.18 |
IGL01611:Vwde
|
APN |
6 |
13,219,977 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01835:Vwde
|
APN |
6 |
13,186,823 (GRCm39) |
missense |
probably benign |
0.43 |
IGL01993:Vwde
|
APN |
6 |
13,219,977 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01997:Vwde
|
APN |
6 |
13,215,705 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02390:Vwde
|
APN |
6 |
13,190,684 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02612:Vwde
|
APN |
6 |
13,187,148 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02723:Vwde
|
APN |
6 |
13,205,759 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02731:Vwde
|
APN |
6 |
13,192,613 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02869:Vwde
|
APN |
6 |
13,187,136 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02981:Vwde
|
APN |
6 |
13,193,112 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL03031:Vwde
|
APN |
6 |
13,208,381 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03180:Vwde
|
APN |
6 |
13,205,764 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03182:Vwde
|
APN |
6 |
13,187,138 (GRCm39) |
missense |
probably damaging |
1.00 |
willy_brandt
|
UTSW |
6 |
13,208,404 (GRCm39) |
splice site |
probably null |
|
C9142:Vwde
|
UTSW |
6 |
13,168,053 (GRCm39) |
splice site |
probably benign |
|
R0089:Vwde
|
UTSW |
6 |
13,220,004 (GRCm39) |
missense |
probably damaging |
1.00 |
R0244:Vwde
|
UTSW |
6 |
13,193,125 (GRCm39) |
missense |
probably benign |
0.16 |
R0355:Vwde
|
UTSW |
6 |
13,187,806 (GRCm39) |
splice site |
probably benign |
|
R0455:Vwde
|
UTSW |
6 |
13,187,528 (GRCm39) |
missense |
probably benign |
0.03 |
R0465:Vwde
|
UTSW |
6 |
13,215,805 (GRCm39) |
splice site |
probably benign |
|
R0946:Vwde
|
UTSW |
6 |
13,187,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R1087:Vwde
|
UTSW |
6 |
13,186,803 (GRCm39) |
missense |
probably damaging |
1.00 |
R1236:Vwde
|
UTSW |
6 |
13,187,152 (GRCm39) |
nonsense |
probably null |
|
R1891:Vwde
|
UTSW |
6 |
13,187,454 (GRCm39) |
missense |
probably damaging |
0.98 |
R2014:Vwde
|
UTSW |
6 |
13,208,337 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2015:Vwde
|
UTSW |
6 |
13,208,337 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2303:Vwde
|
UTSW |
6 |
13,215,806 (GRCm39) |
splice site |
probably benign |
|
R3439:Vwde
|
UTSW |
6 |
13,208,374 (GRCm39) |
missense |
probably damaging |
0.98 |
R3688:Vwde
|
UTSW |
6 |
13,186,891 (GRCm39) |
missense |
probably damaging |
0.96 |
R4457:Vwde
|
UTSW |
6 |
13,196,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R4755:Vwde
|
UTSW |
6 |
13,205,851 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4849:Vwde
|
UTSW |
6 |
13,196,047 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4850:Vwde
|
UTSW |
6 |
13,196,047 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4851:Vwde
|
UTSW |
6 |
13,196,047 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4853:Vwde
|
UTSW |
6 |
13,215,639 (GRCm39) |
missense |
probably damaging |
1.00 |
R4951:Vwde
|
UTSW |
6 |
13,187,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R5023:Vwde
|
UTSW |
6 |
13,192,641 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5057:Vwde
|
UTSW |
6 |
13,192,641 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5060:Vwde
|
UTSW |
6 |
13,208,323 (GRCm39) |
splice site |
probably null |
|
R5126:Vwde
|
UTSW |
6 |
13,187,259 (GRCm39) |
missense |
probably benign |
0.04 |
R5154:Vwde
|
UTSW |
6 |
13,215,757 (GRCm39) |
missense |
probably benign |
0.01 |
R5277:Vwde
|
UTSW |
6 |
13,186,995 (GRCm39) |
missense |
probably benign |
0.03 |
R5432:Vwde
|
UTSW |
6 |
13,190,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R5436:Vwde
|
UTSW |
6 |
13,190,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R5472:Vwde
|
UTSW |
6 |
13,193,117 (GRCm39) |
missense |
probably benign |
0.00 |
R5518:Vwde
|
UTSW |
6 |
13,186,937 (GRCm39) |
missense |
probably benign |
0.00 |
R5791:Vwde
|
UTSW |
6 |
13,195,985 (GRCm39) |
nonsense |
probably null |
|
R6045:Vwde
|
UTSW |
6 |
13,219,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R6262:Vwde
|
UTSW |
6 |
13,205,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R6482:Vwde
|
UTSW |
6 |
13,205,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R6500:Vwde
|
UTSW |
6 |
13,208,404 (GRCm39) |
splice site |
probably null |
|
R6562:Vwde
|
UTSW |
6 |
13,193,122 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6905:Vwde
|
UTSW |
6 |
13,205,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R7021:Vwde
|
UTSW |
6 |
13,186,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R7103:Vwde
|
UTSW |
6 |
13,215,799 (GRCm39) |
missense |
probably benign |
0.03 |
R7356:Vwde
|
UTSW |
6 |
13,192,641 (GRCm39) |
missense |
probably damaging |
0.96 |
R7434:Vwde
|
UTSW |
6 |
13,187,639 (GRCm39) |
missense |
probably benign |
0.00 |
R7492:Vwde
|
UTSW |
6 |
13,204,980 (GRCm39) |
missense |
probably null |
1.00 |
R8026:Vwde
|
UTSW |
6 |
13,205,782 (GRCm39) |
missense |
probably benign |
0.16 |
R8544:Vwde
|
UTSW |
6 |
13,187,652 (GRCm39) |
missense |
probably benign |
0.00 |
R8557:Vwde
|
UTSW |
6 |
13,193,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R8995:Vwde
|
UTSW |
6 |
13,195,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R9112:Vwde
|
UTSW |
6 |
13,205,051 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGACGGGGATTCATGTAACTGGC -3'
(R):5'- GTGTACTCAGCAAGCAGATTCTCCTTT -3'
Sequencing Primer
(F):5'- GGCCACTGCACATATCAAAAG -3'
(R):5'- TCTCCTTTAAGAGTGAAGCCAGC -3'
|
Posted On |
2014-05-23 |