Incidental Mutation 'R0355:Vwde'
| ID |
29754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwde
|
| Ensembl Gene |
ENSMUSG00000079679 |
| Gene Name |
von Willebrand factor D and EGF domains |
| Synonyms |
LOC232585 |
| MMRRC Submission |
038561-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R0355 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
13156439-13224964 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 13187806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145311
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054530]
[ENSMUST00000203074]
|
| AlphaFold |
Q6DFV8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054530
|
| SMART Domains |
Protein: ENSMUSP00000058110
Gene: ENSMUSG00000079679
| 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
|
| SMART Domains |
Protein: ENSMUSP00000145311
Gene: ENSMUSG00000079679
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.9%
- 10x: 95.3%
- 20x: 90.2%
|
| Validation Efficiency |
100% (76/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
G |
7: 120,023,021 (GRCm39) |
I52M |
possibly damaging |
Het |
| Agbl5 |
G |
T |
5: 31,049,335 (GRCm39) |
|
probably null |
Het |
| Akt2 |
T |
C |
7: 27,336,334 (GRCm39) |
|
probably benign |
Het |
| Arl6ip5 |
T |
A |
6: 97,209,378 (GRCm39) |
S138T |
probably damaging |
Het |
| Atp9b |
A |
G |
18: 80,952,800 (GRCm39) |
|
probably benign |
Het |
| Ccdc171 |
A |
T |
4: 83,553,919 (GRCm39) |
N422Y |
probably damaging |
Het |
| Ccr5 |
C |
T |
9: 123,924,951 (GRCm39) |
P185S |
possibly damaging |
Het |
| Cep63 |
G |
T |
9: 102,500,759 (GRCm39) |
Q38K |
probably benign |
Het |
| Cgn |
T |
C |
3: 94,682,242 (GRCm39) |
S446G |
probably benign |
Het |
| Col16a1 |
T |
A |
4: 129,952,206 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
T |
A |
8: 15,968,330 (GRCm39) |
Q3099L |
probably damaging |
Het |
| Dcc |
G |
A |
18: 71,708,279 (GRCm39) |
T479I |
possibly damaging |
Het |
| Dclre1a |
A |
G |
19: 56,535,067 (GRCm39) |
|
probably null |
Het |
| Dlg1 |
T |
A |
16: 31,502,992 (GRCm39) |
C66* |
probably null |
Het |
| Dnah12 |
T |
A |
14: 26,427,272 (GRCm39) |
|
probably null |
Het |
| Dnajb9 |
T |
A |
12: 44,253,987 (GRCm39) |
H140L |
probably damaging |
Het |
| Dnase1 |
G |
A |
16: 3,857,413 (GRCm39) |
V237M |
probably damaging |
Het |
| Dscam |
C |
A |
16: 96,456,105 (GRCm39) |
E1274D |
probably benign |
Het |
| Epb41 |
T |
C |
4: 131,727,572 (GRCm39) |
H243R |
probably damaging |
Het |
| Evc |
T |
A |
5: 37,473,656 (GRCm39) |
|
probably benign |
Het |
| Fcgrt |
T |
A |
7: 44,752,493 (GRCm39) |
M1L |
unknown |
Het |
| Flii |
T |
C |
11: 60,610,506 (GRCm39) |
|
probably null |
Het |
| Gen1 |
A |
G |
12: 11,298,355 (GRCm39) |
|
probably benign |
Het |
| Gm10447 |
T |
C |
11: 53,347,257 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
A |
G |
3: 36,101,054 (GRCm39) |
|
probably benign |
Het |
| Gm8674 |
A |
T |
13: 50,055,975 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr137 |
G |
C |
19: 6,916,491 (GRCm39) |
D253E |
probably damaging |
Het |
| Grid2ip |
A |
T |
5: 143,343,652 (GRCm39) |
D116V |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,151,554 (GRCm39) |
|
probably benign |
Het |
| Havcr1 |
A |
G |
11: 46,647,051 (GRCm39) |
T162A |
possibly damaging |
Het |
| Hspa1l |
A |
T |
17: 35,196,386 (GRCm39) |
T142S |
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,267,409 (GRCm39) |
Y602* |
probably null |
Het |
| Il18 |
T |
A |
9: 50,490,575 (GRCm39) |
|
probably benign |
Het |
| Ilf3 |
T |
C |
9: 21,309,266 (GRCm39) |
V474A |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,476,664 (GRCm39) |
Y771C |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,125,575 (GRCm39) |
T542A |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,648,868 (GRCm39) |
Y714H |
probably benign |
Het |
| Itgbl1 |
T |
A |
14: 124,077,997 (GRCm39) |
C162* |
probably null |
Het |
| Kcp |
T |
C |
6: 29,496,926 (GRCm39) |
H561R |
possibly damaging |
Het |
| Krt23 |
G |
T |
11: 99,376,613 (GRCm39) |
T181N |
probably benign |
Het |
| Lrrc40 |
A |
T |
3: 157,746,108 (GRCm39) |
D61V |
probably damaging |
Het |
| Lypd4 |
T |
A |
7: 24,564,691 (GRCm39) |
H149L |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,473,058 (GRCm39) |
F953L |
probably damaging |
Het |
| Mctp1 |
C |
T |
13: 76,972,982 (GRCm39) |
P405S |
probably damaging |
Het |
| Mfsd2a |
G |
A |
4: 122,845,632 (GRCm39) |
T173I |
possibly damaging |
Het |
| Mtus1 |
T |
C |
8: 41,535,965 (GRCm39) |
T584A |
probably benign |
Het |
| Nell2 |
A |
G |
15: 95,330,782 (GRCm39) |
V213A |
probably benign |
Het |
| Nipsnap1 |
G |
A |
11: 4,839,957 (GRCm39) |
G226E |
probably damaging |
Het |
| Nudt15 |
T |
C |
14: 73,760,824 (GRCm39) |
Y89C |
probably damaging |
Het |
| Or10g7 |
T |
A |
9: 39,905,459 (GRCm39) |
S118T |
possibly damaging |
Het |
| Or10h28 |
T |
A |
17: 33,488,109 (GRCm39) |
M137K |
probably damaging |
Het |
| Or13p3 |
T |
A |
4: 118,566,808 (GRCm39) |
M68K |
probably benign |
Het |
| Or7a37 |
T |
G |
10: 78,806,267 (GRCm39) |
S261R |
probably damaging |
Het |
| Phf24 |
A |
C |
4: 42,933,891 (GRCm39) |
E91A |
probably damaging |
Het |
| Plbd1 |
T |
A |
6: 136,618,165 (GRCm39) |
N17I |
possibly damaging |
Het |
| Por |
C |
T |
5: 135,761,438 (GRCm39) |
S308L |
probably benign |
Het |
| Prmt8 |
T |
A |
6: 127,688,837 (GRCm39) |
K178* |
probably null |
Het |
| Rev3l |
A |
G |
10: 39,693,282 (GRCm39) |
N454S |
probably damaging |
Het |
| Rps6ka2 |
T |
C |
17: 7,539,009 (GRCm39) |
V309A |
probably benign |
Het |
| Slc15a5 |
A |
G |
6: 137,995,112 (GRCm39) |
|
probably benign |
Het |
| Slc30a6 |
G |
A |
17: 74,730,198 (GRCm39) |
V363I |
probably benign |
Het |
| Snf8 |
G |
A |
11: 95,930,125 (GRCm39) |
M42I |
probably benign |
Het |
| Stom |
T |
C |
2: 35,215,371 (GRCm39) |
I65V |
probably benign |
Het |
| Tacr3 |
C |
T |
3: 134,637,989 (GRCm39) |
T382I |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,682,010 (GRCm39) |
V2540A |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,969,816 (GRCm39) |
T314A |
possibly damaging |
Het |
| Tyk2 |
T |
C |
9: 21,025,486 (GRCm39) |
|
probably null |
Het |
| Ube4a |
T |
C |
9: 44,856,099 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,589,015 (GRCm39) |
H1060R |
possibly damaging |
Het |
| Virma |
A |
T |
4: 11,528,626 (GRCm39) |
K1288* |
probably null |
Het |
| Vmn2r100 |
A |
C |
17: 19,751,582 (GRCm39) |
I542L |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,245,018 (GRCm39) |
I797T |
possibly damaging |
Het |
| Zfp74 |
C |
T |
7: 29,653,466 (GRCm39) |
|
probably benign |
Het |
| Zkscan7 |
T |
A |
9: 122,717,872 (GRCm39) |
L89Q |
probably 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 |
|
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 |
|
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'- ATGCATGGCAGTACCCAACCAG -3'
(R):5'- TGGGGTATGAGTATAACACTCCGAGTC -3'
Sequencing Primer
(F):5'- TTTGCAGGAAACCGTGAGG -3'
(R):5'- ATAACACTCCGAGTCCCTAGTTTAG -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation