Incidental Mutation 'R6500:Vwde'
| ID |
519669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vwde
|
| Ensembl Gene |
ENSMUSG00000079679 |
| Gene Name |
von Willebrand factor D and EGF domains |
| Synonyms |
LOC232585 |
| MMRRC Submission |
044632-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R6500 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
13156439-13224964 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 13208404 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 null
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 null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204339
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (53/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
A |
G |
12: 81,606,380 (GRCm39) |
F461L |
probably benign |
Het |
| Adamtsl3 |
C |
A |
7: 82,227,818 (GRCm39) |
H1334Q |
probably benign |
Het |
| Adgrf1 |
A |
G |
17: 43,621,263 (GRCm39) |
N500S |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,042,634 (GRCm39) |
D335G |
possibly damaging |
Het |
| Arhgap19 |
G |
A |
19: 41,775,077 (GRCm39) |
T178M |
probably damaging |
Het |
| Chac2 |
T |
C |
11: 30,927,625 (GRCm39) |
D86G |
probably damaging |
Het |
| Clhc1 |
T |
C |
11: 29,510,542 (GRCm39) |
S209P |
possibly damaging |
Het |
| Col1a2 |
G |
A |
6: 4,515,517 (GRCm39) |
G127S |
unknown |
Het |
| Coro2b |
A |
G |
9: 62,396,606 (GRCm39) |
F51L |
probably benign |
Het |
| Cux2 |
A |
G |
5: 122,002,789 (GRCm39) |
S1139P |
probably benign |
Het |
| Cyth3 |
A |
T |
5: 143,693,595 (GRCm39) |
I379F |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,312,822 (GRCm39) |
L240H |
possibly damaging |
Het |
| Ercc6 |
A |
G |
14: 32,248,780 (GRCm39) |
K444E |
probably damaging |
Het |
| Fam3b |
A |
G |
16: 97,302,101 (GRCm39) |
L52P |
possibly damaging |
Het |
| Fat4 |
T |
G |
3: 39,035,418 (GRCm39) |
Y3023* |
probably null |
Het |
| Gad1 |
A |
T |
2: 70,423,780 (GRCm39) |
N396Y |
probably damaging |
Het |
| Gbp2b |
A |
G |
3: 142,317,252 (GRCm39) |
E536G |
probably benign |
Het |
| Gm11564 |
G |
A |
11: 99,706,061 (GRCm39) |
T123I |
unknown |
Het |
| Herc2 |
G |
T |
7: 55,796,393 (GRCm39) |
E1922* |
probably null |
Het |
| Hrh4 |
G |
T |
18: 13,155,525 (GRCm39) |
V355F |
probably damaging |
Het |
| Isyna1 |
A |
G |
8: 71,047,339 (GRCm39) |
I21V |
probably damaging |
Het |
| Jak1 |
T |
C |
4: 101,039,130 (GRCm39) |
D165G |
probably benign |
Het |
| Klhl38 |
C |
A |
15: 58,185,809 (GRCm39) |
G307* |
probably null |
Het |
| Krt77 |
T |
C |
15: 101,772,772 (GRCm39) |
N269S |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,322,765 (GRCm39) |
I1118N |
possibly damaging |
Het |
| Ly6i |
T |
C |
15: 74,853,833 (GRCm39) |
Y30C |
probably damaging |
Het |
| Magi2 |
A |
G |
5: 20,807,345 (GRCm39) |
E620G |
possibly damaging |
Het |
| Mbl2 |
A |
G |
19: 30,216,839 (GRCm39) |
D217G |
possibly damaging |
Het |
| Mogat2 |
T |
A |
7: 98,871,553 (GRCm39) |
I253F |
probably benign |
Het |
| Mpped2 |
T |
C |
2: 106,691,925 (GRCm39) |
L210P |
probably damaging |
Het |
| Nav3 |
C |
A |
10: 109,600,617 (GRCm39) |
A1337S |
probably damaging |
Het |
| Ncaph2 |
T |
A |
15: 89,248,407 (GRCm39) |
V206E |
probably benign |
Het |
| Nlgn1 |
T |
C |
3: 25,488,094 (GRCm39) |
E747G |
possibly damaging |
Het |
| Nlrc3 |
C |
T |
16: 3,770,308 (GRCm39) |
G237D |
possibly damaging |
Het |
| Nsun7 |
A |
G |
5: 66,452,827 (GRCm39) |
D514G |
probably benign |
Het |
| Or10al5 |
C |
G |
17: 38,063,577 (GRCm39) |
D277E |
probably damaging |
Het |
| Pals2 |
A |
G |
6: 50,175,146 (GRCm39) |
K500E |
possibly damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,480,224 (GRCm39) |
V2028F |
probably damaging |
Het |
| Pdx1 |
G |
T |
5: 147,207,440 (GRCm39) |
W131L |
probably damaging |
Het |
| Pkdrej |
C |
T |
15: 85,703,747 (GRCm39) |
V730I |
probably damaging |
Het |
| Plcg1 |
T |
A |
2: 160,596,487 (GRCm39) |
Y669N |
probably damaging |
Het |
| Plpp1 |
G |
T |
13: 113,003,454 (GRCm39) |
W226L |
probably damaging |
Het |
| Sfxn1 |
G |
A |
13: 54,242,918 (GRCm39) |
V59I |
probably benign |
Het |
| Shank1 |
T |
C |
7: 43,976,645 (GRCm39) |
I581T |
unknown |
Het |
| Slc35f6 |
A |
C |
5: 30,814,164 (GRCm39) |
K150N |
possibly damaging |
Het |
| Slc5a7 |
A |
T |
17: 54,591,231 (GRCm39) |
S234T |
probably benign |
Het |
| Smg6 |
C |
T |
11: 74,821,331 (GRCm39) |
T534I |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,573,724 (GRCm39) |
T3649I |
probably benign |
Het |
| Vmn1r158 |
T |
C |
7: 22,490,078 (GRCm39) |
T44A |
possibly damaging |
Het |
| Vmn1r217 |
A |
T |
13: 23,298,073 (GRCm39) |
Y276* |
probably null |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,355 (GRCm39) |
I243N |
probably damaging |
Het |
| Washc4 |
C |
A |
10: 83,394,687 (GRCm39) |
P306T |
probably damaging |
Het |
| Wdhd1 |
C |
T |
14: 47,488,217 (GRCm39) |
|
probably null |
Het |
| Xpo6 |
T |
C |
7: 125,770,262 (GRCm39) |
|
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 |
|
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 |
|
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'- ATCAGACTGGTAATGCTTGCC -3'
(R):5'- AATCCTGGTCCATCAATCATCTTTG -3'
Sequencing Primer
(F):5'- GACTGGTAATGCTTGCCTAATTTAAC -3'
(R):5'- ATAAGACTTAGCTGCAGTCCCTGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation