Incidental Mutation 'IGL02477:Vwce'
| ID |
294985 |
| 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 # |
IGL02477
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
10611582-10643577 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4338 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 10641982 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 |
possibly damaging
Transcript: ENSMUST00000055115
AA Change: S903P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000056958
Gene: ENSMUSG00000043789
AA Change: S903P
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
A |
4: 103,127,943 (GRCm39) |
I61F |
probably benign |
Het |
| Abr |
T |
C |
11: 76,352,186 (GRCm39) |
K280E |
probably damaging |
Het |
| Acaca |
T |
C |
11: 84,197,994 (GRCm39) |
|
probably benign |
Het |
| Cep131 |
C |
T |
11: 119,961,406 (GRCm39) |
V582I |
probably damaging |
Het |
| Colec12 |
A |
G |
18: 9,859,858 (GRCm39) |
N613D |
unknown |
Het |
| Cyp4f39 |
A |
G |
17: 32,708,619 (GRCm39) |
T389A |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,059,408 (GRCm39) |
N164S |
probably benign |
Het |
| Eef1akmt2 |
A |
T |
7: 132,452,318 (GRCm39) |
|
probably null |
Het |
| Elp3 |
T |
C |
14: 65,800,760 (GRCm39) |
T283A |
probably benign |
Het |
| Fads3 |
C |
A |
19: 10,033,806 (GRCm39) |
P397Q |
probably damaging |
Het |
| Fam171a1 |
T |
C |
2: 3,203,612 (GRCm39) |
V198A |
possibly damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,330,854 (GRCm39) |
I208M |
probably benign |
Het |
| Fbxw17 |
G |
A |
13: 50,577,853 (GRCm39) |
V119M |
possibly damaging |
Het |
| Gtf2ird1 |
G |
A |
5: 134,408,832 (GRCm39) |
T140M |
probably damaging |
Het |
| Hspa14 |
C |
T |
2: 3,497,661 (GRCm39) |
S277N |
probably damaging |
Het |
| Hspg2 |
C |
T |
4: 137,271,823 (GRCm39) |
|
probably benign |
Het |
| Ing2 |
G |
T |
8: 48,122,303 (GRCm39) |
R82S |
possibly damaging |
Het |
| Kat6a |
A |
G |
8: 23,419,316 (GRCm39) |
Y693C |
probably damaging |
Het |
| Kcna7 |
A |
G |
7: 45,059,047 (GRCm39) |
M445V |
probably benign |
Het |
| Lifr |
T |
G |
15: 7,216,404 (GRCm39) |
I793S |
probably damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,915,770 (GRCm39) |
M789K |
probably benign |
Het |
| Myom3 |
T |
A |
4: 135,506,679 (GRCm39) |
L484Q |
probably benign |
Het |
| Nav2 |
T |
A |
7: 49,232,623 (GRCm39) |
M1860K |
probably damaging |
Het |
| Nipbl |
C |
T |
15: 8,353,131 (GRCm39) |
|
probably null |
Het |
| Nsun7 |
T |
A |
5: 66,433,992 (GRCm39) |
I214K |
probably damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,126 (GRCm39) |
I269M |
probably benign |
Het |
| Or8c20 |
C |
T |
9: 38,260,421 (GRCm39) |
S8L |
probably benign |
Het |
| Osm |
T |
A |
11: 4,189,604 (GRCm39) |
N129K |
probably damaging |
Het |
| Plce1 |
C |
T |
19: 38,707,997 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
A |
G |
3: 63,660,714 (GRCm39) |
F302L |
probably damaging |
Het |
| Pld2 |
T |
C |
11: 70,431,751 (GRCm39) |
V27A |
possibly damaging |
Het |
| Prex2 |
A |
G |
1: 11,274,378 (GRCm39) |
D1350G |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,792,083 (GRCm39) |
V1190D |
probably damaging |
Het |
| Sema3g |
G |
T |
14: 30,949,823 (GRCm39) |
R668L |
probably damaging |
Het |
| Sprr2f |
T |
A |
3: 92,273,204 (GRCm39) |
M1K |
probably null |
Het |
| Sult6b2 |
G |
A |
6: 142,747,447 (GRCm39) |
P101S |
probably damaging |
Het |
| Trem3 |
G |
A |
17: 48,556,864 (GRCm39) |
V112I |
probably benign |
Het |
| Ttll9 |
T |
A |
2: 152,842,117 (GRCm39) |
F324I |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,557,104 (GRCm39) |
D29967V |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,163,516 (GRCm39) |
K2639E |
probably damaging |
Het |
| Zbtb14 |
T |
A |
17: 69,694,690 (GRCm39) |
D129E |
probably benign |
Het |
| Zmym6 |
C |
T |
4: 126,972,295 (GRCm39) |
Q16* |
probably null |
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 |
|
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 |
2015-04-16 |
Incidental Mutation