Incidental Mutation 'R0142:Vwce'
ID |
22409 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwce
|
Ensembl Gene |
ENSMUSG00000043789 |
Gene Name |
von Willebrand factor C and EGF domains |
Synonyms |
1300015B04Rik |
MMRRC Submission |
038427-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R0142 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
19 |
Chromosomal Location |
10611582-10643577 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 10641976 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 901
(R901W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025647]
[ENSMUST00000055115]
|
AlphaFold |
Q3U515 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025647
|
SMART Domains |
Protein: ENSMUSP00000025647 Gene: ENSMUSG00000024738
Domain | Start | End | E-Value | Type |
Pfam:A1_Propeptide
|
16 |
44 |
1.1e-13 |
PFAM |
Pfam:Asp
|
73 |
386 |
1.1e-112 |
PFAM |
Pfam:TAXi_N
|
74 |
229 |
7.6e-12 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055115
AA Change: R901W
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000056958 Gene: ENSMUSG00000043789 AA Change: R901W
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
EGF
|
70 |
98 |
2.2e1 |
SMART |
EGF_CA
|
142 |
180 |
6.91e-9 |
SMART |
EGF_CA
|
181 |
219 |
7.75e-12 |
SMART |
EGF_CA
|
220 |
262 |
1.11e-12 |
SMART |
low complexity region
|
294 |
312 |
N/A |
INTRINSIC |
low complexity region
|
335 |
353 |
N/A |
INTRINSIC |
VWC
|
378 |
432 |
2.91e-6 |
SMART |
VWC
|
435 |
488 |
4.58e-4 |
SMART |
VWC
|
493 |
551 |
2.06e-6 |
SMART |
VWC
|
560 |
617 |
9.74e-8 |
SMART |
VWC
|
621 |
676 |
1.35e-10 |
SMART |
VWC
|
679 |
725 |
2.58e-1 |
SMART |
low complexity region
|
761 |
772 |
N/A |
INTRINSIC |
low complexity region
|
889 |
903 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 87.6%
|
Validation Efficiency |
92% (61/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
G |
11: 110,079,467 (GRCm39) |
D1229A |
probably damaging |
Het |
Abhd8 |
A |
C |
8: 71,914,506 (GRCm39) |
F41V |
probably damaging |
Het |
Ago4 |
T |
G |
4: 126,410,725 (GRCm39) |
E222A |
probably benign |
Het |
Ap3b2 |
T |
C |
7: 81,122,828 (GRCm39) |
I470V |
probably damaging |
Het |
Bcl9l |
C |
T |
9: 44,418,409 (GRCm39) |
T749M |
probably benign |
Het |
Bicc1 |
T |
C |
10: 70,761,200 (GRCm39) |
K937E |
probably damaging |
Het |
Bmi1 |
G |
A |
2: 18,688,095 (GRCm39) |
|
probably null |
Het |
Boc |
A |
C |
16: 44,310,604 (GRCm39) |
I772S |
probably damaging |
Het |
Brd10 |
A |
G |
19: 29,695,654 (GRCm39) |
S1347P |
possibly damaging |
Het |
C2 |
T |
A |
17: 35,092,504 (GRCm39) |
I178F |
possibly damaging |
Het |
Cacna1c |
G |
T |
6: 118,580,843 (GRCm39) |
A1416E |
probably damaging |
Het |
Chst10 |
A |
G |
1: 38,910,810 (GRCm39) |
L118P |
probably damaging |
Het |
Crybg1 |
G |
A |
10: 43,875,059 (GRCm39) |
T683I |
possibly damaging |
Het |
Cul5 |
C |
T |
9: 53,546,350 (GRCm39) |
V314I |
probably damaging |
Het |
Dnajc17 |
C |
A |
2: 119,010,415 (GRCm39) |
R211I |
probably benign |
Het |
Emilin1 |
A |
G |
5: 31,071,264 (GRCm39) |
T16A |
probably benign |
Het |
Ercc6l2 |
A |
C |
13: 64,020,320 (GRCm39) |
|
probably benign |
Het |
Fsd2 |
T |
A |
7: 81,209,683 (GRCm39) |
D53V |
probably damaging |
Het |
Galnt13 |
A |
G |
2: 54,988,615 (GRCm39) |
D479G |
probably damaging |
Het |
Grk3 |
A |
T |
5: 113,062,919 (GRCm39) |
W643R |
probably damaging |
Het |
Hdgf |
G |
A |
3: 87,820,416 (GRCm39) |
A4T |
possibly damaging |
Het |
Hnrnpr |
T |
A |
4: 136,054,593 (GRCm39) |
V182E |
probably damaging |
Het |
Ipo13 |
A |
C |
4: 117,762,766 (GRCm39) |
L279R |
probably damaging |
Het |
Itga9 |
C |
A |
9: 118,465,654 (GRCm39) |
N169K |
probably damaging |
Het |
Jph3 |
A |
G |
8: 122,480,110 (GRCm39) |
T263A |
possibly damaging |
Het |
Jph4 |
G |
T |
14: 55,345,783 (GRCm39) |
Q625K |
probably benign |
Het |
Kctd3 |
A |
C |
1: 188,728,595 (GRCm39) |
|
probably null |
Het |
Kif26b |
A |
T |
1: 178,742,954 (GRCm39) |
S570C |
probably damaging |
Het |
Klhl5 |
G |
A |
5: 65,300,693 (GRCm39) |
W164* |
probably null |
Het |
Lacc1 |
A |
T |
14: 77,268,239 (GRCm39) |
H357Q |
probably benign |
Het |
Lama2 |
A |
G |
10: 27,063,841 (GRCm39) |
I1316T |
probably benign |
Het |
Lcp2 |
C |
T |
11: 34,032,418 (GRCm39) |
P332L |
probably damaging |
Het |
Map3k6 |
A |
T |
4: 132,978,257 (GRCm39) |
H1033L |
probably benign |
Het |
Mfsd2b |
A |
G |
12: 4,916,234 (GRCm39) |
V252A |
probably benign |
Het |
Myo16 |
T |
A |
8: 10,619,790 (GRCm39) |
I1447N |
probably benign |
Het |
Myo19 |
G |
A |
11: 84,785,429 (GRCm39) |
R224H |
probably damaging |
Het |
Myo5a |
C |
T |
9: 75,067,856 (GRCm39) |
H637Y |
probably benign |
Het |
Nek10 |
C |
T |
14: 14,861,560 (GRCm38) |
R539C |
possibly damaging |
Het |
Nfix |
A |
T |
8: 85,448,315 (GRCm39) |
V404E |
probably damaging |
Het |
Nr1i2 |
T |
C |
16: 38,073,368 (GRCm39) |
R203G |
probably benign |
Het |
Nup210l |
G |
A |
3: 90,079,420 (GRCm39) |
G968D |
probably damaging |
Het |
Or10q1 |
A |
T |
19: 13,726,619 (GRCm39) |
I50F |
probably benign |
Het |
Or2ag15 |
G |
T |
7: 106,340,972 (GRCm39) |
H56Q |
probably benign |
Het |
Or8b37 |
A |
T |
9: 37,959,406 (GRCm39) |
H296L |
probably benign |
Het |
Phlpp2 |
C |
T |
8: 110,634,145 (GRCm39) |
R242W |
probably damaging |
Het |
Plcz1 |
A |
G |
6: 139,953,423 (GRCm39) |
F398S |
probably damaging |
Het |
Ppfibp2 |
C |
A |
7: 107,343,384 (GRCm39) |
P808T |
probably damaging |
Het |
Srpk2 |
T |
C |
5: 23,732,928 (GRCm39) |
K239E |
probably damaging |
Het |
Svep1 |
A |
G |
4: 58,118,232 (GRCm39) |
V830A |
probably benign |
Het |
Tesc |
A |
T |
5: 118,194,635 (GRCm39) |
I149F |
possibly damaging |
Het |
Thsd7a |
A |
G |
6: 12,418,334 (GRCm39) |
W632R |
probably damaging |
Het |
Tmprss9 |
A |
G |
10: 80,730,212 (GRCm39) |
D704G |
possibly damaging |
Het |
Tob1 |
T |
C |
11: 94,105,423 (GRCm39) |
Y320H |
probably damaging |
Het |
Trpm3 |
G |
T |
19: 22,965,280 (GRCm39) |
D1582Y |
probably damaging |
Het |
Ttc28 |
A |
G |
5: 111,425,323 (GRCm39) |
K1716R |
probably benign |
Het |
Uqcrfs1 |
A |
G |
13: 30,724,925 (GRCm39) |
V205A |
probably benign |
Het |
Usp29 |
G |
A |
7: 6,965,334 (GRCm39) |
M392I |
probably benign |
Het |
Uspl1 |
A |
T |
5: 149,125,159 (GRCm39) |
Y22F |
possibly damaging |
Het |
Virma |
C |
A |
4: 11,548,783 (GRCm39) |
N1780K |
probably benign |
Het |
Vmn1r56 |
C |
T |
7: 5,199,372 (GRCm39) |
A82T |
probably benign |
Het |
Vmn2r5 |
A |
T |
3: 64,400,009 (GRCm39) |
C553S |
probably damaging |
Het |
Wdpcp |
C |
A |
11: 21,807,444 (GRCm39) |
|
probably null |
Het |
Zfp423 |
A |
T |
8: 88,506,968 (GRCm39) |
C1000* |
probably null |
Het |
Zscan20 |
A |
G |
4: 128,479,630 (GRCm39) |
F954L |
probably benign |
Het |
|
Other mutations in Vwce |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00429:Vwce
|
APN |
19 |
10,641,875 (GRCm39) |
splice site |
probably null |
|
IGL01358:Vwce
|
APN |
19 |
10,641,773 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02330:Vwce
|
APN |
19 |
10,624,165 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02477:Vwce
|
APN |
19 |
10,641,982 (GRCm39) |
splice site |
probably null |
|
IGL02551:Vwce
|
APN |
19 |
10,622,400 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02606:Vwce
|
APN |
19 |
10,632,712 (GRCm39) |
splice site |
probably benign |
|
IGL02633:Vwce
|
APN |
19 |
10,625,858 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02656:Vwce
|
APN |
19 |
10,641,716 (GRCm39) |
missense |
probably benign |
|
IGL02884:Vwce
|
APN |
19 |
10,623,943 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02973:Vwce
|
APN |
19 |
10,632,764 (GRCm39) |
nonsense |
probably null |
|
IGL03038:Vwce
|
APN |
19 |
10,624,035 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL03329:Vwce
|
APN |
19 |
10,637,360 (GRCm39) |
missense |
possibly damaging |
0.73 |
PIT4403001:Vwce
|
UTSW |
19 |
10,615,461 (GRCm39) |
missense |
possibly damaging |
0.53 |
PIT4431001:Vwce
|
UTSW |
19 |
10,641,946 (GRCm39) |
missense |
possibly damaging |
0.53 |
PIT4519001:Vwce
|
UTSW |
19 |
10,641,946 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0042:Vwce
|
UTSW |
19 |
10,624,177 (GRCm39) |
missense |
probably benign |
|
R0081:Vwce
|
UTSW |
19 |
10,641,453 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0165:Vwce
|
UTSW |
19 |
10,637,337 (GRCm39) |
splice site |
probably benign |
|
R0948:Vwce
|
UTSW |
19 |
10,630,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R1053:Vwce
|
UTSW |
19 |
10,641,463 (GRCm39) |
missense |
probably benign |
0.18 |
R1505:Vwce
|
UTSW |
19 |
10,641,608 (GRCm39) |
missense |
probably benign |
|
R1623:Vwce
|
UTSW |
19 |
10,624,108 (GRCm39) |
nonsense |
probably null |
|
R1672:Vwce
|
UTSW |
19 |
10,630,459 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1882:Vwce
|
UTSW |
19 |
10,615,520 (GRCm39) |
missense |
possibly damaging |
0.53 |
R3849:Vwce
|
UTSW |
19 |
10,624,269 (GRCm39) |
missense |
probably damaging |
0.97 |
R4292:Vwce
|
UTSW |
19 |
10,636,996 (GRCm39) |
missense |
probably benign |
0.00 |
R4293:Vwce
|
UTSW |
19 |
10,636,996 (GRCm39) |
missense |
probably benign |
0.00 |
R4531:Vwce
|
UTSW |
19 |
10,641,710 (GRCm39) |
missense |
probably benign |
0.01 |
R4678:Vwce
|
UTSW |
19 |
10,642,012 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4720:Vwce
|
UTSW |
19 |
10,625,831 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4737:Vwce
|
UTSW |
19 |
10,627,943 (GRCm39) |
missense |
probably benign |
0.33 |
R4864:Vwce
|
UTSW |
19 |
10,628,000 (GRCm39) |
missense |
probably benign |
0.01 |
R4916:Vwce
|
UTSW |
19 |
10,624,243 (GRCm39) |
missense |
probably damaging |
0.98 |
R4939:Vwce
|
UTSW |
19 |
10,622,414 (GRCm39) |
missense |
probably damaging |
0.98 |
R5605:Vwce
|
UTSW |
19 |
10,635,402 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5735:Vwce
|
UTSW |
19 |
10,624,431 (GRCm39) |
missense |
probably benign |
0.08 |
R5780:Vwce
|
UTSW |
19 |
10,627,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R6158:Vwce
|
UTSW |
19 |
10,621,585 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6383:Vwce
|
UTSW |
19 |
10,636,956 (GRCm39) |
nonsense |
probably null |
|
R6920:Vwce
|
UTSW |
19 |
10,642,057 (GRCm39) |
missense |
probably benign |
|
R7201:Vwce
|
UTSW |
19 |
10,615,479 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7276:Vwce
|
UTSW |
19 |
10,641,538 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7423:Vwce
|
UTSW |
19 |
10,641,704 (GRCm39) |
missense |
probably benign |
0.02 |
R7474:Vwce
|
UTSW |
19 |
10,624,305 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7843:Vwce
|
UTSW |
19 |
10,641,647 (GRCm39) |
missense |
probably benign |
0.01 |
R8254:Vwce
|
UTSW |
19 |
10,627,938 (GRCm39) |
missense |
probably damaging |
0.98 |
R8782:Vwce
|
UTSW |
19 |
10,615,491 (GRCm39) |
missense |
probably benign |
0.33 |
R9154:Vwce
|
UTSW |
19 |
10,625,850 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9369:Vwce
|
UTSW |
19 |
10,624,061 (GRCm39) |
missense |
probably benign |
0.04 |
R9458:Vwce
|
UTSW |
19 |
10,631,688 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9664:Vwce
|
UTSW |
19 |
10,615,481 (GRCm39) |
missense |
probably benign |
0.33 |
RF020:Vwce
|
UTSW |
19 |
10,630,449 (GRCm39) |
missense |
probably damaging |
1.00 |
X0018:Vwce
|
UTSW |
19 |
10,634,026 (GRCm39) |
missense |
possibly damaging |
0.86 |
Z1177:Vwce
|
UTSW |
19 |
10,624,227 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGACACTGAAGTCCCTGTCAACTG -3'
(R):5'- TTCCACATTCGAGGCCATGAGC -3'
Sequencing Primer
(F):5'- AGCCAGAGGGCATATCTCTTG -3'
(R):5'- AGGCCATGAGCCGAGAG -3'
|
Posted On |
2013-04-16 |