Incidental Mutation 'IGL02327:Wdcp'
ID |
288523 |
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 # |
IGL02327
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
4893303-4910043 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4901115 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 324
(K324E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151585
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053034]
[ENSMUST00000085793]
[ENSMUST00000220170]
[ENSMUST00000220215]
[ENSMUST00000223551]
|
AlphaFold |
Q6NV72 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053034
AA Change: K324E
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000054102 Gene: ENSMUSG00000051721 AA Change: K324E
Domain | Start | End | E-Value | Type |
Pfam:DUF4613
|
2 |
610 |
1.9e-260 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085793
AA Change: K324E
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000082948 Gene: ENSMUSG00000051721 AA Change: K324E
Domain | Start | End | E-Value | Type |
Pfam:DUF4613
|
2 |
643 |
2.4e-280 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219069
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220170
AA Change: K324E
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220215
AA Change: K324E
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223551
AA Change: K324E
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd9 |
A |
T |
12: 110,943,849 (GRCm39) |
C29S |
probably damaging |
Het |
Ccdc66 |
G |
A |
14: 27,215,343 (GRCm39) |
A399V |
probably damaging |
Het |
Ccl12 |
A |
G |
11: 81,993,948 (GRCm39) |
I68M |
possibly damaging |
Het |
Cd244a |
T |
C |
1: 171,386,909 (GRCm39) |
V6A |
probably benign |
Het |
Cfap97 |
T |
A |
8: 46,623,179 (GRCm39) |
S190T |
probably damaging |
Het |
Chic2 |
G |
T |
5: 75,187,741 (GRCm39) |
C106* |
probably null |
Het |
Ctdsp2 |
G |
A |
10: 126,832,251 (GRCm39) |
D237N |
probably benign |
Het |
Cyp2a22 |
A |
T |
7: 26,634,206 (GRCm39) |
M316K |
probably damaging |
Het |
Cyp3a25 |
A |
G |
5: 145,923,731 (GRCm39) |
F304S |
possibly damaging |
Het |
Ddc |
A |
T |
11: 11,813,739 (GRCm39) |
V209D |
probably damaging |
Het |
Dhx16 |
A |
G |
17: 36,194,717 (GRCm39) |
K446R |
probably benign |
Het |
Fgd3 |
T |
C |
13: 49,439,274 (GRCm39) |
K241E |
probably damaging |
Het |
Hps1 |
G |
T |
19: 42,744,784 (GRCm39) |
|
probably benign |
Het |
Inpp4b |
C |
T |
8: 82,768,591 (GRCm39) |
T700I |
probably benign |
Het |
Kremen2 |
T |
A |
17: 23,962,543 (GRCm39) |
M157L |
probably benign |
Het |
Lrwd1 |
T |
C |
5: 136,152,318 (GRCm39) |
Y582C |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,365,523 (GRCm39) |
R1514S |
probably benign |
Het |
Mex3c |
T |
A |
18: 73,723,781 (GRCm39) |
C625S |
probably damaging |
Het |
Mical1 |
G |
A |
10: 41,362,660 (GRCm39) |
E932K |
possibly damaging |
Het |
Ncf2 |
A |
T |
1: 152,692,744 (GRCm39) |
Y87F |
possibly damaging |
Het |
Neo1 |
T |
C |
9: 58,810,371 (GRCm39) |
T1027A |
probably benign |
Het |
Nfkbib |
G |
T |
7: 28,458,568 (GRCm39) |
P347Q |
probably benign |
Het |
Nr1h2 |
G |
A |
7: 44,200,924 (GRCm39) |
|
probably benign |
Het |
Or1e25 |
A |
T |
11: 73,493,981 (GRCm39) |
T192S |
probably damaging |
Het |
Or2t43 |
T |
A |
11: 58,457,761 (GRCm39) |
R137W |
probably damaging |
Het |
Or9m2 |
A |
T |
2: 87,820,601 (GRCm39) |
I49F |
probably damaging |
Het |
Oxct1 |
A |
G |
15: 4,066,571 (GRCm39) |
|
probably null |
Het |
Pak1ip1 |
T |
G |
13: 41,165,893 (GRCm39) |
N308K |
probably benign |
Het |
Prpf38a |
T |
C |
4: 108,425,607 (GRCm39) |
R224G |
unknown |
Het |
Scfd1 |
T |
C |
12: 51,436,100 (GRCm39) |
V83A |
possibly damaging |
Het |
Tmem131 |
C |
T |
1: 36,838,103 (GRCm39) |
G1545D |
probably damaging |
Het |
Trav13n-4 |
A |
T |
14: 53,601,567 (GRCm39) |
|
probably benign |
Het |
Ttc3 |
A |
G |
16: 94,248,967 (GRCm39) |
D1155G |
probably damaging |
Het |
Unc80 |
G |
A |
1: 66,680,832 (GRCm39) |
V2143I |
probably benign |
Het |
Vmn2r16 |
T |
C |
5: 109,487,987 (GRCm39) |
Y287H |
probably benign |
Het |
Vmn2r59 |
A |
G |
7: 41,661,655 (GRCm39) |
V720A |
probably benign |
Het |
Wars1 |
T |
A |
12: 108,832,227 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
A |
T |
5: 102,036,058 (GRCm39) |
L2105H |
probably damaging |
Het |
Xirp2 |
A |
T |
2: 67,340,444 (GRCm39) |
D895V |
probably damaging |
Het |
Zscan10 |
A |
T |
17: 23,826,546 (GRCm39) |
|
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 |
IGL02725:Wdcp
|
APN |
12 |
4,901,206 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03377:Wdcp
|
APN |
12 |
4,900,691 (GRCm39) |
nonsense |
probably null |
|
IGL03381:Wdcp
|
APN |
12 |
4,901,926 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2015-04-16 |