Incidental Mutation 'IGL02606:Vwce'
ID |
300300 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Vwce
|
Ensembl Gene |
ENSMUSG00000043789 |
Gene Name |
von Willebrand factor C and EGF domains |
Synonyms |
1300015B04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
IGL02606
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
10611582-10643577 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 10632712 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056958
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055115]
|
AlphaFold |
Q3U515 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000055115
|
SMART Domains |
Protein: ENSMUSP00000056958 Gene: ENSMUSG00000043789
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
A |
4: 103,099,978 (GRCm39) |
N74I |
probably benign |
Het |
Abr |
T |
C |
11: 76,369,990 (GRCm39) |
K75R |
probably damaging |
Het |
Adcy10 |
A |
C |
1: 165,347,087 (GRCm39) |
D368A |
possibly damaging |
Het |
Alas1 |
A |
G |
9: 106,118,309 (GRCm39) |
|
probably benign |
Het |
Alms1 |
T |
A |
6: 85,576,949 (GRCm39) |
D168E |
probably benign |
Het |
Ankar |
C |
T |
1: 72,729,444 (GRCm39) |
A82T |
possibly damaging |
Het |
Atp2c2 |
C |
T |
8: 120,457,013 (GRCm39) |
T205I |
probably benign |
Het |
Atp9a |
A |
T |
2: 168,494,588 (GRCm39) |
L639Q |
probably damaging |
Het |
Btf3l4 |
T |
C |
4: 108,675,411 (GRCm39) |
D134G |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,007,257 (GRCm39) |
C425R |
probably damaging |
Het |
Cct6b |
G |
T |
11: 82,627,271 (GRCm39) |
T322N |
probably damaging |
Het |
Col19a1 |
G |
A |
1: 24,573,197 (GRCm39) |
R192* |
probably null |
Het |
Cyp8b1 |
A |
T |
9: 121,744,801 (GRCm39) |
F177Y |
probably damaging |
Het |
Dnajc11 |
T |
A |
4: 152,063,941 (GRCm39) |
N474K |
probably benign |
Het |
Dusp16 |
T |
C |
6: 134,737,999 (GRCm39) |
E13G |
probably damaging |
Het |
Ephx2 |
T |
C |
14: 66,323,741 (GRCm39) |
N397S |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,122,913 (GRCm39) |
V145A |
possibly damaging |
Het |
Fiz1 |
A |
G |
7: 5,012,158 (GRCm39) |
L120P |
possibly damaging |
Het |
Galnt6 |
C |
T |
15: 100,612,100 (GRCm39) |
V181M |
probably damaging |
Het |
Ginm1 |
A |
G |
10: 7,646,163 (GRCm39) |
V279A |
probably damaging |
Het |
Gja10 |
T |
G |
4: 32,601,509 (GRCm39) |
I292L |
probably benign |
Het |
Gnb3 |
T |
C |
6: 124,814,378 (GRCm39) |
S136G |
probably benign |
Het |
Gramd1a |
A |
T |
7: 30,833,940 (GRCm39) |
V495E |
probably damaging |
Het |
Il1rn |
G |
T |
2: 24,235,462 (GRCm39) |
|
probably benign |
Het |
Itpr3 |
A |
G |
17: 27,333,486 (GRCm39) |
|
probably benign |
Het |
Kctd1 |
A |
G |
18: 15,195,937 (GRCm39) |
S229P |
possibly damaging |
Het |
Kdm4a |
T |
C |
4: 118,017,486 (GRCm39) |
T527A |
probably benign |
Het |
Kif14 |
C |
T |
1: 136,424,331 (GRCm39) |
A982V |
probably damaging |
Het |
Klf6 |
A |
G |
13: 5,916,734 (GRCm39) |
K293R |
probably damaging |
Het |
Letmd1 |
A |
G |
15: 100,372,972 (GRCm39) |
D92G |
probably damaging |
Het |
Lmod1 |
G |
A |
1: 135,292,218 (GRCm39) |
V358M |
probably benign |
Het |
Ndufs1 |
A |
T |
1: 63,199,011 (GRCm39) |
D295E |
probably damaging |
Het |
Nek4 |
A |
G |
14: 30,685,916 (GRCm39) |
N283S |
probably benign |
Het |
Nhsl1 |
A |
G |
10: 18,387,385 (GRCm39) |
T220A |
probably damaging |
Het |
Nucks1 |
T |
A |
1: 131,852,363 (GRCm39) |
D71E |
probably damaging |
Het |
Or4n4 |
T |
C |
14: 50,519,530 (GRCm39) |
Y60C |
probably damaging |
Het |
Or8g18 |
C |
A |
9: 39,149,490 (GRCm39) |
V77F |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,452,852 (GRCm39) |
T3926A |
probably benign |
Het |
Pptc7 |
T |
A |
5: 122,451,651 (GRCm39) |
|
probably benign |
Het |
Prdm11 |
A |
G |
2: 92,805,948 (GRCm39) |
V334A |
probably benign |
Het |
Ptdss2 |
C |
A |
7: 140,732,911 (GRCm39) |
C231* |
probably null |
Het |
R3hdm1 |
C |
T |
1: 128,118,456 (GRCm39) |
P570S |
probably benign |
Het |
Rlbp1 |
T |
C |
7: 79,027,037 (GRCm39) |
T208A |
possibly damaging |
Het |
Rnaseh2a |
T |
G |
8: 85,686,723 (GRCm39) |
D142A |
probably damaging |
Het |
Rufy4 |
C |
T |
1: 74,172,509 (GRCm39) |
|
probably benign |
Het |
Tektl1 |
A |
G |
10: 78,584,300 (GRCm39) |
Y372H |
probably benign |
Het |
Tlcd4 |
G |
T |
3: 121,022,013 (GRCm39) |
D128E |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,646,565 (GRCm39) |
I11081T |
possibly damaging |
Het |
Ubap2l |
A |
T |
3: 89,945,735 (GRCm39) |
S173R |
probably damaging |
Het |
Vmn1r80 |
A |
G |
7: 11,926,959 (GRCm39) |
N23S |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |