Incidental Mutation 'R6905:Vwde'
| ID |
538732 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwde
|
| Ensembl Gene |
ENSMUSG00000079679 |
| Gene Name |
von Willebrand factor D and EGF domains |
| Synonyms |
LOC232585 |
| MMRRC Submission |
044997-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R6905 (G1)
|
| Quality Score |
212.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
13156439-13224964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13205926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 207
(E207G)
|
| 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: E207G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: E207G
| 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: E207G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: E207G
| 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: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.8%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
G |
T |
1: 151,856,189 (GRCm39) |
N59K |
probably damaging |
Het |
| Abi3bp |
A |
G |
16: 56,394,880 (GRCm39) |
D196G |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,831,653 (GRCm39) |
F50S |
probably damaging |
Het |
| Arid4a |
C |
T |
12: 71,108,318 (GRCm39) |
A41V |
probably benign |
Het |
| Cdk11b |
A |
T |
4: 155,726,065 (GRCm39) |
|
probably benign |
Het |
| Chrm5 |
C |
A |
2: 112,309,901 (GRCm39) |
C405F |
probably benign |
Het |
| Cimip2a |
A |
G |
2: 25,110,491 (GRCm39) |
I100V |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,937,517 (GRCm39) |
|
probably null |
Het |
| Copb1 |
A |
C |
7: 113,853,125 (GRCm39) |
I24S |
probably benign |
Het |
| Ctsh |
A |
T |
9: 89,944,819 (GRCm39) |
K83N |
probably damaging |
Het |
| Dgkd |
A |
G |
1: 87,863,097 (GRCm39) |
E48G |
probably damaging |
Het |
| Dis3l2 |
A |
G |
1: 86,972,561 (GRCm39) |
T657A |
probably benign |
Het |
| Flrt1 |
T |
A |
19: 7,072,757 (GRCm39) |
K597* |
probably null |
Het |
| Ifit1bl2 |
T |
C |
19: 34,596,990 (GRCm39) |
S209G |
possibly damaging |
Het |
| Ifrd2 |
T |
C |
9: 107,465,089 (GRCm39) |
M1T |
probably null |
Het |
| Ighv8-12 |
T |
C |
12: 115,611,705 (GRCm39) |
Y73C |
probably benign |
Het |
| Klhl21 |
C |
A |
4: 152,094,184 (GRCm39) |
A262E |
probably benign |
Het |
| L3mbtl4 |
A |
T |
17: 69,084,883 (GRCm39) |
Y598F |
probably benign |
Het |
| Lad1 |
A |
G |
1: 135,755,618 (GRCm39) |
K298R |
probably benign |
Het |
| Map2k2 |
A |
G |
10: 80,944,701 (GRCm39) |
D71G |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,037,357 (GRCm39) |
H752Q |
probably benign |
Het |
| Mms22l |
A |
T |
4: 24,503,107 (GRCm39) |
M200L |
probably benign |
Het |
| Mup5 |
C |
A |
4: 61,751,340 (GRCm39) |
D103Y |
possibly damaging |
Het |
| Nes |
C |
T |
3: 87,885,985 (GRCm39) |
P1371S |
probably damaging |
Het |
| Or4c10b |
A |
T |
2: 89,712,052 (GRCm39) |
D294V |
probably benign |
Het |
| Or4f14c |
A |
T |
2: 111,940,703 (GRCm39) |
M298K |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,574 (GRCm39) |
T238S |
probably benign |
Het |
| Osbpl3 |
T |
C |
6: 50,328,862 (GRCm39) |
I114V |
probably damaging |
Het |
| Pank3 |
T |
C |
11: 35,667,239 (GRCm39) |
Y119H |
probably benign |
Het |
| Pcdhb15 |
C |
T |
18: 37,607,748 (GRCm39) |
L327F |
possibly damaging |
Het |
| Pnpla8 |
T |
C |
12: 44,330,336 (GRCm39) |
V78A |
probably damaging |
Het |
| Rbm14 |
A |
G |
19: 4,853,264 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
G |
A |
10: 39,693,323 (GRCm39) |
V468M |
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,211,973 (GRCm39) |
I428V |
probably benign |
Het |
| Rps5 |
T |
C |
7: 12,659,785 (GRCm39) |
V147A |
probably damaging |
Het |
| Rps6ka2 |
T |
A |
17: 7,495,340 (GRCm39) |
I9N |
probably damaging |
Het |
| Samd9l |
A |
T |
6: 3,375,387 (GRCm39) |
F625I |
probably damaging |
Het |
| Sh3bp1 |
A |
G |
15: 78,789,230 (GRCm39) |
D196G |
probably benign |
Het |
| Slc66a1 |
A |
G |
4: 139,033,752 (GRCm39) |
|
probably null |
Het |
| Smg7 |
A |
T |
1: 152,725,757 (GRCm39) |
|
probably null |
Het |
| Stap1 |
G |
A |
5: 86,238,781 (GRCm39) |
E150K |
possibly damaging |
Het |
| Ticrr |
T |
C |
7: 79,315,598 (GRCm39) |
I284T |
probably benign |
Het |
| Tm4sf1 |
T |
C |
3: 57,202,330 (GRCm39) |
|
probably benign |
Het |
| Traf4 |
C |
T |
11: 78,051,268 (GRCm39) |
R296Q |
probably benign |
Het |
| Trav7d-4 |
G |
T |
14: 53,007,770 (GRCm39) |
A88S |
possibly damaging |
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 |
|
|
R1738:Vwde
|
UTSW |
6 |
13,190,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CTGAGATTTATGCCATCAAGCTC -3'
(R):5'- AGTCCAGGATTGATAGTCTGAGG -3'
Sequencing Primer
(F):5'- AGATTTATGCCATCAAGCTCTAAAAG -3'
(R):5'- CCAGGATTGATAGTCTGAGGGTCTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation