Incidental Mutation 'R4853:Vwde'
| ID |
373709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwde
|
| Ensembl Gene |
ENSMUSG00000079679 |
| Gene Name |
von Willebrand factor D and EGF domains |
| Synonyms |
LOC232585 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R4853 (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 13215639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 139
(V139E)
|
| 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: V139E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
AA Change: V139E
| 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: V139E
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
AA Change: V139E
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
| Abr |
T |
C |
11: 76,355,087 (GRCm39) |
T244A |
probably damaging |
Het |
| Adcy10 |
T |
A |
1: 165,375,782 (GRCm39) |
N803K |
probably benign |
Het |
| Afm |
T |
C |
5: 90,699,326 (GRCm39) |
F590S |
probably damaging |
Het |
| Agk |
T |
C |
6: 40,360,753 (GRCm39) |
|
probably null |
Het |
| Agrn |
C |
T |
4: 156,270,007 (GRCm39) |
|
probably null |
Het |
| Apon |
A |
G |
10: 128,090,951 (GRCm39) |
S210G |
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,986,098 (GRCm39) |
E395G |
probably damaging |
Het |
| AU018091 |
A |
T |
7: 3,205,861 (GRCm39) |
L671H |
probably damaging |
Het |
| Capn13 |
GCA |
G |
17: 73,658,501 (GRCm39) |
|
probably null |
Het |
| Ccdc154 |
A |
T |
17: 25,389,941 (GRCm39) |
I524F |
probably damaging |
Het |
| Clspn |
T |
A |
4: 126,460,348 (GRCm39) |
I525K |
probably damaging |
Het |
| Cpne5 |
A |
T |
17: 29,380,172 (GRCm39) |
V448E |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,195,361 (GRCm39) |
I261V |
possibly damaging |
Het |
| Crybb2 |
T |
C |
5: 113,211,054 (GRCm39) |
E78G |
probably damaging |
Het |
| Ctps1 |
G |
T |
4: 120,411,207 (GRCm39) |
L270I |
probably damaging |
Het |
| Cyp19a1 |
T |
C |
9: 54,074,060 (GRCm39) |
D431G |
probably benign |
Het |
| Cyp3a57 |
T |
G |
5: 145,302,489 (GRCm39) |
V95G |
probably damaging |
Het |
| Ddx54 |
A |
G |
5: 120,761,694 (GRCm39) |
D490G |
probably benign |
Het |
| Dnai2 |
A |
T |
11: 114,635,917 (GRCm39) |
I301F |
probably benign |
Het |
| Dsg1b |
A |
G |
18: 20,541,793 (GRCm39) |
S767G |
probably benign |
Het |
| Dsg1b |
A |
T |
18: 20,523,189 (GRCm39) |
|
probably null |
Het |
| Ermap |
G |
A |
4: 119,044,451 (GRCm39) |
P115L |
probably damaging |
Het |
| Esrra |
T |
G |
19: 6,897,440 (GRCm39) |
T106P |
probably damaging |
Het |
| Exoc5 |
GTATT |
GT |
14: 49,289,826 (GRCm39) |
|
probably benign |
Het |
| Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gnl3 |
T |
C |
14: 30,737,270 (GRCm39) |
K203E |
probably damaging |
Het |
| H2ac13 |
A |
G |
13: 21,900,866 (GRCm39) |
E92G |
probably damaging |
Het |
| Habp2 |
G |
A |
19: 56,299,623 (GRCm39) |
|
probably null |
Het |
| Kcnh3 |
A |
C |
15: 99,139,970 (GRCm39) |
D952A |
possibly damaging |
Het |
| Kif27 |
T |
C |
13: 58,459,072 (GRCm39) |
K920E |
probably benign |
Het |
| Kmt2e |
C |
T |
5: 23,707,339 (GRCm39) |
P1634L |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,104,846 (GRCm39) |
M1312K |
possibly damaging |
Het |
| Myh14 |
T |
A |
7: 44,257,872 (GRCm39) |
Q1921L |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,102,169 (GRCm39) |
V68A |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,158,247 (GRCm39) |
F444L |
unknown |
Het |
| Nedd9 |
A |
G |
13: 41,469,837 (GRCm39) |
Y439H |
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,416,317 (GRCm39) |
H1454Q |
probably benign |
Het |
| Or10v9 |
T |
A |
19: 11,832,645 (GRCm39) |
D224V |
probably benign |
Het |
| Or51v8 |
G |
T |
7: 103,320,010 (GRCm39) |
T76K |
probably damaging |
Het |
| Or5i1 |
T |
G |
2: 87,613,526 (GRCm39) |
F214C |
probably benign |
Het |
| Or9m1b |
A |
G |
2: 87,836,448 (GRCm39) |
S216P |
probably damaging |
Het |
| P4ha2 |
G |
A |
11: 54,010,996 (GRCm39) |
S337N |
probably benign |
Het |
| Pck1 |
T |
A |
2: 172,996,507 (GRCm39) |
Y140* |
probably null |
Het |
| Phldb2 |
T |
C |
16: 45,623,079 (GRCm39) |
M656V |
probably damaging |
Het |
| Pif1 |
T |
C |
9: 65,500,858 (GRCm39) |
W559R |
probably damaging |
Het |
| Pllp |
T |
C |
8: 95,406,022 (GRCm39) |
Y87C |
probably damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,719,046 (GRCm39) |
N623D |
probably benign |
Het |
| Prkcg |
C |
T |
7: 3,367,469 (GRCm39) |
R345C |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,433,325 (GRCm39) |
I147V |
probably benign |
Het |
| Sdk1 |
T |
A |
5: 142,132,018 (GRCm39) |
L1649Q |
probably damaging |
Het |
| Sema3b |
C |
T |
9: 107,479,266 (GRCm39) |
|
probably null |
Het |
| Sh3rf3 |
G |
A |
10: 58,919,341 (GRCm39) |
R486H |
probably damaging |
Het |
| Shoc1 |
T |
C |
4: 59,072,345 (GRCm39) |
K624E |
possibly damaging |
Het |
| Slain2 |
A |
G |
5: 73,105,941 (GRCm39) |
N192S |
probably benign |
Het |
| Slc22a16 |
T |
A |
10: 40,450,047 (GRCm39) |
I161N |
probably damaging |
Het |
| Strip1 |
T |
C |
3: 107,524,232 (GRCm39) |
K562E |
possibly damaging |
Het |
| Sumf1 |
A |
G |
6: 108,162,456 (GRCm39) |
L21S |
probably benign |
Het |
| Sytl3 |
T |
A |
17: 7,005,164 (GRCm39) |
S380T |
probably damaging |
Het |
| Tgfb1i1 |
T |
A |
7: 127,847,840 (GRCm39) |
C74* |
probably null |
Het |
| Tmprss15 |
T |
G |
16: 78,757,479 (GRCm39) |
I939L |
probably benign |
Het |
| Tpsb2 |
GGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTG |
17: 25,585,536 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
A |
G |
17: 15,137,475 (GRCm39) |
|
probably null |
Het |
| Zkscan14 |
A |
G |
5: 145,132,001 (GRCm39) |
V510A |
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 |
|
|
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 |
|
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'- TTAAGCAGTTCAGGCACTATGTG -3'
(R):5'- CATGAAAGATGAACCACTGCG -3'
Sequencing Primer
(F):5'- GCCAATTTAAGCCAGAAAGTTGTC -3'
(R):5'- AGATGAACCACTGCGGGACTC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation