Incidental Mutation 'IGL00429:Vwce'
| ID |
5687 |
| 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 # |
IGL00429
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
10611582-10643577 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4445 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 10641875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025647]
[ENSMUST00000055115]
|
| AlphaFold |
Q3U515 |
| Predicted Effect |
probably null
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 benign
Transcript: ENSMUST00000055115
AA Change: F867Y
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000056958
Gene: ENSMUSG00000043789
AA Change: F867Y
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009J07Rik |
G |
A |
10: 77,729,673 (GRCm39) |
|
probably benign |
Het |
| 4933411K16Rik |
T |
C |
19: 42,040,983 (GRCm39) |
L38P |
probably damaging |
Het |
| Abca1 |
A |
G |
4: 53,059,255 (GRCm39) |
|
probably null |
Het |
| Abca15 |
T |
A |
7: 119,996,277 (GRCm39) |
I1401N |
probably damaging |
Het |
| Adam3 |
A |
C |
8: 25,184,294 (GRCm39) |
Y569D |
probably damaging |
Het |
| Ap2a1 |
T |
C |
7: 44,555,192 (GRCm39) |
S458G |
probably damaging |
Het |
| Asxl3 |
C |
T |
18: 22,658,280 (GRCm39) |
P2097S |
probably benign |
Het |
| AW551984 |
T |
C |
9: 39,504,145 (GRCm39) |
D607G |
probably benign |
Het |
| Ccdc158 |
C |
A |
5: 92,805,740 (GRCm39) |
M338I |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,256,920 (GRCm39) |
S735P |
probably damaging |
Het |
| Cdh9 |
T |
C |
15: 16,828,448 (GRCm39) |
V180A |
probably damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,432,171 (GRCm39) |
|
probably benign |
Het |
| Dus4l |
A |
G |
12: 31,691,668 (GRCm39) |
V180A |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,166,826 (GRCm39) |
T1672S |
probably damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,340 (GRCm39) |
L141Q |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,127,597 (GRCm39) |
E313G |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,693,809 (GRCm39) |
T593A |
probably benign |
Het |
| H2bc14 |
T |
C |
13: 21,906,310 (GRCm39) |
S15P |
possibly damaging |
Het |
| Il18r1 |
G |
A |
1: 40,537,812 (GRCm39) |
E526K |
possibly damaging |
Het |
| Lama4 |
A |
T |
10: 38,887,022 (GRCm39) |
H109L |
possibly damaging |
Het |
| Mab21l1 |
A |
C |
3: 55,690,557 (GRCm39) |
Q48P |
probably damaging |
Het |
| Magi3 |
T |
A |
3: 103,922,294 (GRCm39) |
K1474N |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,714,109 (GRCm39) |
F237L |
probably damaging |
Het |
| Mst1r |
A |
T |
9: 107,790,449 (GRCm39) |
|
probably benign |
Het |
| Mtcl2 |
A |
C |
2: 156,872,784 (GRCm39) |
F909C |
probably damaging |
Het |
| Myh2 |
C |
T |
11: 67,071,616 (GRCm39) |
Q478* |
probably null |
Het |
| Mylip |
C |
A |
13: 45,562,043 (GRCm39) |
P282T |
probably benign |
Het |
| Mymk |
T |
C |
2: 26,952,799 (GRCm39) |
Y103C |
probably damaging |
Het |
| Necab1 |
A |
T |
4: 15,052,656 (GRCm39) |
N107K |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,730,753 (GRCm39) |
|
probably benign |
Het |
| Phgdh |
T |
C |
3: 98,235,631 (GRCm39) |
K129E |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,139,026 (GRCm39) |
Y1714C |
probably damaging |
Het |
| Pm20d2 |
A |
G |
4: 33,187,205 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,296,801 (GRCm39) |
T172A |
probably benign |
Het |
| Prkca |
T |
C |
11: 108,234,334 (GRCm39) |
T54A |
probably benign |
Het |
| Prlr |
A |
G |
15: 10,328,410 (GRCm39) |
D295G |
probably benign |
Het |
| Rdh12 |
A |
G |
12: 79,258,176 (GRCm39) |
I68V |
probably benign |
Het |
| Slc14a2 |
A |
G |
18: 78,193,653 (GRCm39) |
F850L |
possibly damaging |
Het |
| Smad2 |
A |
T |
18: 76,431,566 (GRCm39) |
S185C |
possibly damaging |
Het |
| Trav13n-4 |
T |
A |
14: 53,601,288 (GRCm39) |
L19Q |
probably benign |
Het |
| Ush2a |
T |
A |
1: 188,132,311 (GRCm39) |
C844* |
probably null |
Het |
| Wdr95 |
T |
C |
5: 149,518,709 (GRCm39) |
|
probably benign |
Het |
| Zfp143 |
T |
C |
7: 109,690,979 (GRCm39) |
I510T |
probably damaging |
Het |
| Zfp930 |
G |
T |
8: 69,680,634 (GRCm39) |
K90N |
probably damaging |
Het |
|
| Other mutations in Vwce |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation