Incidental Mutation 'R5518:Vwde'
ID |
431395 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwde
|
Ensembl Gene |
ENSMUSG00000079679 |
Gene Name |
von Willebrand factor D and EGF domains |
Synonyms |
LOC232585 |
MMRRC Submission |
043077-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.220)
|
Stock # |
R5518 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
13156439-13224964 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13186937 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 850
(N850S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145311
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054530]
[ENSMUST00000203074]
|
AlphaFold |
Q6DFV8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054530
AA Change: N850S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000058110 Gene: ENSMUSG00000079679 AA Change: N850S
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: N850S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000145311 Gene: ENSMUSG00000079679 AA Change: N850S
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: 97.4%
- 10x: 94.2%
- 20x: 86.3%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
C |
T |
7: 45,769,873 (GRCm39) |
E881K |
probably benign |
Het |
Abcf1 |
C |
T |
17: 36,269,233 (GRCm39) |
R675K |
possibly damaging |
Het |
Abl1 |
T |
A |
2: 31,680,754 (GRCm39) |
C349S |
probably damaging |
Het |
Acot11 |
C |
A |
4: 106,607,207 (GRCm39) |
V459L |
probably benign |
Het |
Ank2 |
A |
T |
3: 126,753,348 (GRCm39) |
V311D |
probably damaging |
Het |
Ankrd11 |
C |
G |
8: 123,617,733 (GRCm39) |
E2040Q |
possibly damaging |
Het |
Ankrd26 |
T |
C |
6: 118,525,869 (GRCm39) |
I359V |
probably benign |
Het |
Armc3 |
T |
G |
2: 19,302,739 (GRCm39) |
L684V |
probably benign |
Het |
Asb10 |
G |
A |
5: 24,744,643 (GRCm39) |
P184S |
probably damaging |
Het |
Atp10b |
T |
C |
11: 43,042,463 (GRCm39) |
S8P |
possibly damaging |
Het |
Blk |
G |
T |
14: 63,615,956 (GRCm39) |
S324R |
possibly damaging |
Het |
C4b |
G |
C |
17: 34,953,416 (GRCm39) |
N1022K |
probably benign |
Het |
Card6 |
G |
T |
15: 5,134,696 (GRCm39) |
T169K |
probably damaging |
Het |
Catsper2 |
T |
C |
2: 121,236,844 (GRCm39) |
T268A |
possibly damaging |
Het |
Cbx3 |
C |
T |
6: 51,458,726 (GRCm39) |
P64S |
probably benign |
Het |
Chchd6 |
A |
G |
6: 89,544,567 (GRCm39) |
|
probably null |
Het |
Cntn1 |
G |
A |
15: 92,212,534 (GRCm39) |
E899K |
probably benign |
Het |
Col6a4 |
A |
T |
9: 105,949,387 (GRCm39) |
S749R |
possibly damaging |
Het |
Cpne3 |
T |
G |
4: 19,553,779 (GRCm39) |
N84T |
probably benign |
Het |
Dcxr |
A |
C |
11: 120,617,025 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
Emsy |
T |
C |
7: 98,242,818 (GRCm39) |
Q1107R |
possibly damaging |
Het |
Erbb2 |
G |
T |
11: 98,313,596 (GRCm39) |
C221F |
probably damaging |
Het |
Exoc3l |
T |
C |
8: 106,019,795 (GRCm39) |
N353D |
probably benign |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
G3bp2 |
T |
A |
5: 92,216,347 (GRCm39) |
H63L |
probably benign |
Het |
Galnt17 |
A |
G |
5: 130,929,428 (GRCm39) |
Y460H |
probably damaging |
Het |
Gm6003 |
T |
A |
7: 32,865,004 (GRCm39) |
|
noncoding transcript |
Het |
Ighv5-12-4 |
A |
G |
12: 113,726,154 (GRCm39) |
L23P |
probably damaging |
Het |
Ins1 |
T |
C |
19: 52,253,177 (GRCm39) |
L39P |
probably damaging |
Het |
Itpr3 |
T |
G |
17: 27,306,566 (GRCm39) |
V210G |
probably damaging |
Het |
Klrb1 |
T |
A |
6: 128,683,488 (GRCm39) |
T210S |
probably benign |
Het |
Krtap24-1 |
A |
T |
16: 88,408,596 (GRCm39) |
F177I |
probably damaging |
Het |
Lrrc37 |
A |
T |
11: 103,506,079 (GRCm39) |
I1963K |
probably benign |
Het |
Mcat |
A |
G |
15: 83,431,875 (GRCm39) |
|
probably null |
Het |
Mknk2 |
A |
T |
10: 80,504,475 (GRCm39) |
C229S |
possibly damaging |
Het |
Mta2 |
C |
A |
19: 8,925,456 (GRCm39) |
Q362K |
probably benign |
Het |
Ndst4 |
T |
C |
3: 125,232,105 (GRCm39) |
Y225H |
probably benign |
Het |
Or4d11 |
T |
C |
19: 12,013,429 (GRCm39) |
R226G |
probably damaging |
Het |
Pcdha1 |
A |
G |
18: 37,065,415 (GRCm39) |
D693G |
probably benign |
Het |
Pik3r5 |
G |
A |
11: 68,368,294 (GRCm39) |
D100N |
possibly damaging |
Het |
Pld3 |
T |
C |
7: 27,231,796 (GRCm39) |
D465G |
probably damaging |
Het |
Prkdc |
T |
C |
16: 15,496,172 (GRCm39) |
Y788H |
probably damaging |
Het |
Ptprt |
T |
A |
2: 162,120,143 (GRCm39) |
D108V |
probably damaging |
Het |
Rasgrp3 |
T |
A |
17: 75,823,354 (GRCm39) |
M475K |
probably benign |
Het |
Rbak |
A |
G |
5: 143,159,064 (GRCm39) |
L663P |
probably damaging |
Het |
Rnf17 |
A |
G |
14: 56,719,590 (GRCm39) |
N947D |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,702,795 (GRCm39) |
S2898G |
probably benign |
Het |
Serpina1e |
A |
C |
12: 103,917,087 (GRCm39) |
L194R |
probably damaging |
Het |
Smg6 |
T |
C |
11: 74,944,724 (GRCm39) |
S158P |
probably damaging |
Het |
Smtnl2 |
A |
T |
11: 72,292,342 (GRCm39) |
V269E |
possibly damaging |
Het |
Snx14 |
G |
T |
9: 88,265,855 (GRCm39) |
P760Q |
probably damaging |
Het |
Sorl1 |
T |
C |
9: 41,948,508 (GRCm39) |
E759G |
possibly damaging |
Het |
Sspo |
C |
T |
6: 48,473,588 (GRCm39) |
T4906M |
possibly damaging |
Het |
Syne2 |
T |
A |
12: 75,991,944 (GRCm39) |
F1970I |
possibly damaging |
Het |
Tekt3 |
C |
A |
11: 62,974,768 (GRCm39) |
H362Q |
probably benign |
Het |
Tmem121 |
T |
C |
12: 113,152,547 (GRCm39) |
V255A |
possibly damaging |
Het |
Tmem201 |
T |
C |
4: 149,802,534 (GRCm39) |
T614A |
probably benign |
Het |
Tnc |
T |
C |
4: 63,935,916 (GRCm39) |
D340G |
probably damaging |
Het |
Ttc28 |
A |
T |
5: 111,373,794 (GRCm39) |
T1046S |
probably benign |
Het |
Ubxn2a |
T |
C |
12: 4,952,238 (GRCm39) |
D8G |
probably benign |
Het |
Zfp280d |
A |
G |
9: 72,231,417 (GRCm39) |
H451R |
probably damaging |
Het |
Zfp462 |
T |
C |
4: 55,009,818 (GRCm39) |
C595R |
probably damaging |
Het |
Zfp768 |
A |
G |
7: 126,943,583 (GRCm39) |
S182P |
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 |
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'- AACTGTAGCCTGGAGAACACAC -3'
(R):5'- TTTCCCTGAGGACCACACTG -3'
Sequencing Primer
(F):5'- TAGCCTGGAGAACACACACAGC -3'
(R):5'- CTGAGGACCACACTGAGGAC -3'
|
Posted On |
2016-10-05 |