Incidental Mutation 'IGL03381:Wdcp'
ID |
420708 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wdcp
|
Ensembl Gene |
ENSMUSG00000051721 |
Gene Name |
WD repeat and coiled coil containing |
Synonyms |
BC068281 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.707)
|
Stock # |
IGL03381
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
4893303-4910043 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4901926 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 594
(V594D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152571
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053034]
[ENSMUST00000085793]
[ENSMUST00000220170]
[ENSMUST00000220215]
[ENSMUST00000223551]
|
AlphaFold |
Q6NV72 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053034
AA Change: V594D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000054102 Gene: ENSMUSG00000051721 AA Change: V594D
Domain | Start | End | E-Value | Type |
Pfam:DUF4613
|
2 |
610 |
1.9e-260 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085793
AA Change: V594D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000082948 Gene: ENSMUSG00000051721 AA Change: V594D
Domain | Start | End | E-Value | Type |
Pfam:DUF4613
|
2 |
643 |
2.4e-280 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219069
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220170
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220215
AA Change: V594D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223551
AA Change: V594D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A330017A19Rik |
T |
C |
17: 47,200,812 (GRCm39) |
|
probably benign |
Het |
Abca16 |
T |
C |
7: 120,127,041 (GRCm39) |
F1243S |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,666,086 (GRCm39) |
V1990A |
probably damaging |
Het |
Arhgdib |
G |
A |
6: 136,909,314 (GRCm39) |
T69I |
probably benign |
Het |
Atf2 |
G |
A |
2: 73,659,012 (GRCm39) |
A214V |
probably benign |
Het |
Ccr2 |
G |
A |
9: 123,906,409 (GRCm39) |
V230I |
probably benign |
Het |
Cnksr1 |
T |
C |
4: 133,959,482 (GRCm39) |
E384G |
probably damaging |
Het |
Epha5 |
T |
A |
5: 84,479,191 (GRCm39) |
D271V |
probably damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gpr15 |
A |
G |
16: 58,538,339 (GRCm39) |
F250S |
probably damaging |
Het |
Gzmf |
A |
T |
14: 56,444,450 (GRCm39) |
V41E |
probably benign |
Het |
H2-T10 |
C |
T |
17: 36,430,246 (GRCm39) |
D232N |
probably benign |
Het |
H2-T10 |
T |
A |
17: 36,430,249 (GRCm39) |
K231* |
probably null |
Het |
Hsd3b6 |
A |
G |
3: 98,715,128 (GRCm39) |
V88A |
possibly damaging |
Het |
Kit |
C |
T |
5: 75,767,788 (GRCm39) |
T57M |
probably benign |
Het |
Klhl22 |
A |
G |
16: 17,610,591 (GRCm39) |
D614G |
possibly damaging |
Het |
Matr3 |
T |
A |
18: 35,712,078 (GRCm39) |
|
probably benign |
Het |
Mff |
A |
G |
1: 82,719,661 (GRCm39) |
Y213C |
probably damaging |
Het |
Mrnip |
A |
G |
11: 50,090,417 (GRCm39) |
T194A |
probably benign |
Het |
Msh6 |
T |
C |
17: 88,292,537 (GRCm39) |
F431L |
probably damaging |
Het |
Mttp |
G |
A |
3: 137,810,704 (GRCm39) |
R637C |
probably damaging |
Het |
Nlrc3 |
A |
G |
16: 3,782,179 (GRCm39) |
V410A |
probably benign |
Het |
Or4c120 |
A |
G |
2: 89,001,523 (GRCm39) |
I11T |
possibly damaging |
Het |
Or52a5b |
T |
C |
7: 103,417,044 (GRCm39) |
I187V |
probably benign |
Het |
Or5b108 |
T |
A |
19: 13,168,769 (GRCm39) |
V246D |
probably damaging |
Het |
Pramel21 |
T |
C |
4: 143,343,625 (GRCm39) |
|
probably benign |
Het |
Psip1 |
T |
C |
4: 83,404,022 (GRCm39) |
T2A |
probably benign |
Het |
Rbm33 |
T |
C |
5: 28,599,390 (GRCm39) |
F921L |
unknown |
Het |
Rhbdl2 |
T |
C |
4: 123,716,610 (GRCm39) |
V189A |
possibly damaging |
Het |
Rpap2 |
C |
T |
5: 107,768,067 (GRCm39) |
P302S |
probably benign |
Het |
Sec23ip |
T |
A |
7: 128,352,029 (GRCm39) |
V32D |
probably damaging |
Het |
Sh3yl1 |
T |
C |
12: 30,976,836 (GRCm39) |
I47T |
possibly damaging |
Het |
Spmip4 |
T |
C |
6: 50,566,116 (GRCm39) |
S120G |
probably damaging |
Het |
Tenm2 |
A |
C |
11: 35,959,238 (GRCm39) |
S1104A |
probably benign |
Het |
Ufd1 |
A |
G |
16: 18,644,507 (GRCm39) |
D190G |
probably damaging |
Het |
Ugt1a7c |
T |
C |
1: 88,023,512 (GRCm39) |
F224L |
probably benign |
Het |
Utp20 |
G |
T |
10: 88,657,867 (GRCm39) |
F64L |
probably damaging |
Het |
Vmn1r198 |
A |
G |
13: 22,539,006 (GRCm39) |
Y164C |
probably benign |
Het |
Xirp2 |
A |
C |
2: 67,344,570 (GRCm39) |
E2270D |
probably benign |
Het |
|
Other mutations in Wdcp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00770:Wdcp
|
APN |
12 |
4,905,303 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00774:Wdcp
|
APN |
12 |
4,905,303 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02327:Wdcp
|
APN |
12 |
4,901,115 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02725:Wdcp
|
APN |
12 |
4,901,206 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03377:Wdcp
|
APN |
12 |
4,900,691 (GRCm39) |
nonsense |
probably null |
|
R0152:Wdcp
|
UTSW |
12 |
4,901,583 (GRCm39) |
missense |
probably benign |
0.06 |
R0317:Wdcp
|
UTSW |
12 |
4,901,583 (GRCm39) |
missense |
probably benign |
0.06 |
R1077:Wdcp
|
UTSW |
12 |
4,900,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R1136:Wdcp
|
UTSW |
12 |
4,901,655 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1571:Wdcp
|
UTSW |
12 |
4,901,924 (GRCm39) |
nonsense |
probably null |
|
R1653:Wdcp
|
UTSW |
12 |
4,901,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R1848:Wdcp
|
UTSW |
12 |
4,900,245 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4091:Wdcp
|
UTSW |
12 |
4,905,279 (GRCm39) |
missense |
probably null |
0.00 |
R5126:Wdcp
|
UTSW |
12 |
4,900,617 (GRCm39) |
missense |
probably damaging |
0.98 |
R6148:Wdcp
|
UTSW |
12 |
4,900,621 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6529:Wdcp
|
UTSW |
12 |
4,901,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R6800:Wdcp
|
UTSW |
12 |
4,901,358 (GRCm39) |
missense |
probably damaging |
1.00 |
R7432:Wdcp
|
UTSW |
12 |
4,900,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R7821:Wdcp
|
UTSW |
12 |
4,907,975 (GRCm39) |
missense |
probably benign |
0.07 |
R8182:Wdcp
|
UTSW |
12 |
4,901,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R8553:Wdcp
|
UTSW |
12 |
4,902,024 (GRCm39) |
intron |
probably benign |
|
R8845:Wdcp
|
UTSW |
12 |
4,901,439 (GRCm39) |
missense |
probably benign |
0.26 |
R9134:Wdcp
|
UTSW |
12 |
4,901,533 (GRCm39) |
nonsense |
probably null |
|
R9609:Wdcp
|
UTSW |
12 |
4,900,258 (GRCm39) |
missense |
probably damaging |
0.98 |
U24488:Wdcp
|
UTSW |
12 |
4,900,405 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Wdcp
|
UTSW |
12 |
4,901,077 (GRCm39) |
nonsense |
probably null |
|
Z1088:Wdcp
|
UTSW |
12 |
4,900,825 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Wdcp
|
UTSW |
12 |
4,901,785 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2016-08-02 |