Incidental Mutation 'R5605:Vwce'
ID |
439274 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vwce
|
Ensembl Gene |
ENSMUSG00000043789 |
Gene Name |
von Willebrand factor C and EGF domains |
Synonyms |
1300015B04Rik |
MMRRC Submission |
043270-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R5605 (G1)
|
Quality Score |
213 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
10611582-10643577 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 10635402 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 633
(T633S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055115]
|
AlphaFold |
Q3U515 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055115
AA Change: T633S
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000056958 Gene: ENSMUSG00000043789 AA Change: T633S
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 |
0.1259 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
C |
A |
18: 67,575,425 (GRCm39) |
G83* |
probably null |
Het |
Arap2 |
A |
T |
5: 62,772,410 (GRCm39) |
M1476K |
possibly damaging |
Het |
Catsper2 |
G |
A |
2: 121,227,533 (GRCm39) |
R546C |
possibly damaging |
Het |
Ceacam5 |
T |
C |
7: 17,481,161 (GRCm39) |
F303L |
probably benign |
Het |
Clvs1 |
A |
G |
4: 9,281,751 (GRCm39) |
D65G |
probably damaging |
Het |
Coq5 |
T |
C |
5: 115,421,776 (GRCm39) |
|
probably null |
Het |
D630045J12Rik |
A |
T |
6: 38,168,699 (GRCm39) |
V950E |
probably damaging |
Het |
Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
Dnah7c |
A |
G |
1: 46,837,395 (GRCm39) |
D3936G |
possibly damaging |
Het |
Doc2b |
T |
C |
11: 75,662,786 (GRCm39) |
E404G |
probably damaging |
Het |
Dsg1b |
C |
T |
18: 20,532,596 (GRCm39) |
P547S |
probably benign |
Het |
Eif1ad17 |
T |
A |
12: 87,978,768 (GRCm39) |
C51S |
probably damaging |
Het |
Erich6 |
A |
G |
3: 58,532,540 (GRCm39) |
Y356H |
probably damaging |
Het |
Galnt6 |
C |
T |
15: 100,595,106 (GRCm39) |
R465Q |
probably damaging |
Het |
Gbp5 |
T |
C |
3: 142,207,037 (GRCm39) |
S69P |
probably damaging |
Het |
Gdpd4 |
T |
C |
7: 97,655,507 (GRCm39) |
V562A |
probably benign |
Het |
Greb1 |
A |
T |
12: 16,758,727 (GRCm39) |
V663D |
probably damaging |
Het |
Gtf3c3 |
A |
T |
1: 54,455,085 (GRCm39) |
S593T |
probably benign |
Het |
H2-Eb1 |
T |
C |
17: 34,528,807 (GRCm39) |
S113P |
probably benign |
Het |
Herc3 |
C |
T |
6: 58,834,712 (GRCm39) |
R240C |
probably damaging |
Het |
Iqub |
T |
C |
6: 24,505,620 (GRCm39) |
D96G |
probably benign |
Het |
Irag1 |
C |
T |
7: 110,545,209 (GRCm39) |
C29Y |
possibly damaging |
Het |
Kcnt2 |
A |
T |
1: 140,502,481 (GRCm39) |
E858D |
possibly damaging |
Het |
Lcor |
T |
A |
19: 41,571,302 (GRCm39) |
I165N |
probably damaging |
Het |
Lrp2 |
C |
T |
2: 69,353,643 (GRCm39) |
R539K |
probably damaging |
Het |
Lrrc10 |
C |
A |
10: 116,881,805 (GRCm39) |
P160T |
probably damaging |
Het |
Map3k12 |
G |
T |
15: 102,412,300 (GRCm39) |
D280E |
probably benign |
Het |
Mcub |
T |
C |
3: 129,710,658 (GRCm39) |
E258G |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,765,664 (GRCm39) |
S5208P |
probably benign |
Het |
Med20 |
C |
A |
17: 47,934,069 (GRCm39) |
|
probably benign |
Het |
Mertk |
T |
C |
2: 128,580,227 (GRCm39) |
V227A |
probably benign |
Het |
Ncstn |
A |
G |
1: 171,908,717 (GRCm39) |
|
probably benign |
Het |
Nedd4l |
T |
C |
18: 65,307,315 (GRCm39) |
|
probably null |
Het |
Nfyc |
A |
G |
4: 120,647,686 (GRCm39) |
|
probably benign |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Nt5dc1 |
C |
T |
10: 34,279,691 (GRCm39) |
C117Y |
probably benign |
Het |
Nup88 |
A |
T |
11: 70,834,896 (GRCm39) |
|
probably benign |
Het |
Or6z7 |
C |
T |
7: 6,483,325 (GRCm39) |
V277M |
probably benign |
Het |
Pbrm1 |
T |
A |
14: 30,757,949 (GRCm39) |
I193K |
probably benign |
Het |
Pcsk2 |
T |
C |
2: 143,591,165 (GRCm39) |
|
probably benign |
Het |
Pdzd2 |
A |
T |
15: 12,592,436 (GRCm39) |
C69* |
probably null |
Het |
Polr1e |
A |
G |
4: 45,018,723 (GRCm39) |
T18A |
probably benign |
Het |
Prima1 |
T |
A |
12: 103,166,163 (GRCm39) |
I124F |
probably benign |
Het |
Rbm34 |
T |
C |
8: 127,676,169 (GRCm39) |
K382R |
probably benign |
Het |
Rftn1 |
T |
G |
17: 50,354,435 (GRCm39) |
N309T |
probably damaging |
Het |
Septin1 |
C |
T |
7: 126,814,598 (GRCm39) |
D260N |
probably damaging |
Het |
Serpina3g |
T |
C |
12: 104,207,299 (GRCm39) |
V154A |
probably damaging |
Het |
Spef2 |
A |
T |
15: 9,609,606 (GRCm39) |
N1306K |
probably damaging |
Het |
Stk4 |
T |
C |
2: 163,921,486 (GRCm39) |
F29S |
probably damaging |
Het |
Stxbp5 |
A |
G |
10: 9,645,490 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
T |
C |
17: 24,919,733 (GRCm39) |
T774A |
probably benign |
Het |
Tinag |
A |
G |
9: 76,952,694 (GRCm39) |
Y97H |
probably damaging |
Het |
Tpm1 |
T |
C |
9: 66,956,317 (GRCm39) |
E33G |
probably damaging |
Het |
Usp17lb |
T |
C |
7: 104,489,847 (GRCm39) |
E359G |
probably benign |
Het |
Vmn2r91 |
A |
G |
17: 18,356,763 (GRCm39) |
E810G |
probably damaging |
Het |
Ylpm1 |
G |
A |
12: 85,075,627 (GRCm39) |
R326H |
probably damaging |
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 |
|
R0142:Vwce
|
UTSW |
19 |
10,641,976 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
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'- AGACTCTGCATTGCCCTTGC -3'
(R):5'- GGCTAAAGAACCCTGCTAGACAG -3'
Sequencing Primer
(F):5'- GCATTGCCCTTGCTCAATCCAG -3'
(R):5'- TGCTAGACAGGCAGCAGG -3'
|
Posted On |
2016-10-26 |