Incidental Mutation 'R1077:Wdcp'
ID |
85697 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wdcp
|
Ensembl Gene |
ENSMUSG00000051721 |
Gene Name |
WD repeat and coiled coil containing |
Synonyms |
BC068281 |
MMRRC Submission |
039163-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.707)
|
Stock # |
R1077 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
4893303-4910043 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4900685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 180
(H180Q)
|
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: H180Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000054102 Gene: ENSMUSG00000051721 AA Change: H180Q
Domain | Start | End | E-Value | Type |
Pfam:DUF4613
|
2 |
610 |
1.9e-260 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000085793
AA Change: H180Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000082948 Gene: ENSMUSG00000051721 AA Change: H180Q
Domain | Start | End | E-Value | Type |
Pfam:DUF4613
|
2 |
643 |
2.4e-280 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219069
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220170
AA Change: H180Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000220215
AA Change: H180Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223551
AA Change: H180Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.4251 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.6%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921528I07Rik |
T |
C |
9: 114,130,770 (GRCm39) |
|
noncoding transcript |
Het |
Apob |
A |
G |
12: 8,056,017 (GRCm39) |
K1500E |
probably benign |
Het |
Atp8b1 |
A |
T |
18: 64,706,333 (GRCm39) |
Y225* |
probably null |
Het |
Cdc25c |
A |
T |
18: 34,882,026 (GRCm39) |
|
probably benign |
Het |
Ceacam15 |
T |
C |
7: 16,406,000 (GRCm39) |
N184D |
probably benign |
Het |
Cntln |
T |
C |
4: 84,914,716 (GRCm39) |
S508P |
probably damaging |
Het |
Defa41 |
T |
A |
8: 21,692,449 (GRCm39) |
F90Y |
probably benign |
Het |
Dhx34 |
A |
G |
7: 15,952,293 (GRCm39) |
S111P |
probably damaging |
Het |
Dst |
A |
G |
1: 34,203,248 (GRCm39) |
E759G |
probably damaging |
Het |
Fis1 |
G |
A |
5: 136,994,000 (GRCm39) |
A28T |
probably damaging |
Het |
Fsd1 |
T |
C |
17: 56,297,542 (GRCm39) |
|
probably null |
Het |
Grk6 |
T |
C |
13: 55,602,340 (GRCm39) |
|
probably null |
Het |
Il23r |
A |
T |
6: 67,450,794 (GRCm39) |
H228Q |
probably benign |
Het |
Kcnh4 |
C |
T |
11: 100,643,164 (GRCm39) |
V368I |
possibly damaging |
Het |
Kdr |
T |
C |
5: 76,116,891 (GRCm39) |
E728G |
probably damaging |
Het |
Krt33a |
T |
A |
11: 99,906,763 (GRCm39) |
M71L |
probably benign |
Het |
Lrrc7 |
T |
G |
3: 157,866,780 (GRCm39) |
D987A |
probably damaging |
Het |
Naalad2 |
C |
T |
9: 18,258,802 (GRCm39) |
R491Q |
probably damaging |
Het |
Nedd4l |
A |
T |
18: 65,300,570 (GRCm39) |
|
probably benign |
Het |
Pramel7 |
A |
G |
2: 87,321,534 (GRCm39) |
L167S |
probably damaging |
Het |
Prkci |
A |
G |
3: 31,104,341 (GRCm39) |
D568G |
probably damaging |
Het |
Psg18 |
G |
A |
7: 18,085,000 (GRCm39) |
T32I |
possibly damaging |
Het |
Ric8b |
T |
A |
10: 84,806,581 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,376,824 (GRCm39) |
|
probably benign |
Het |
Rttn |
T |
C |
18: 89,082,373 (GRCm39) |
V1433A |
probably damaging |
Het |
Sbf2 |
A |
T |
7: 109,966,379 (GRCm39) |
|
probably benign |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Sfta2 |
T |
C |
17: 35,961,019 (GRCm39) |
|
probably benign |
Het |
Slc17a1 |
T |
A |
13: 24,062,433 (GRCm39) |
|
probably benign |
Het |
Slc6a21 |
G |
A |
7: 44,937,626 (GRCm39) |
C314Y |
probably benign |
Het |
Smpd4 |
T |
C |
16: 17,441,833 (GRCm39) |
V35A |
probably damaging |
Het |
Sorl1 |
T |
C |
9: 41,925,786 (GRCm39) |
D1182G |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,088,809 (GRCm39) |
I5056V |
possibly damaging |
Het |
Tex14 |
T |
C |
11: 87,410,571 (GRCm39) |
|
probably benign |
Het |
Tex44 |
A |
G |
1: 86,354,777 (GRCm39) |
T229A |
probably benign |
Het |
Tfap2b |
T |
A |
1: 19,304,373 (GRCm39) |
C394* |
probably null |
Het |
Ttk |
T |
A |
9: 83,726,202 (GRCm39) |
|
probably benign |
Het |
Vmn2r26 |
G |
A |
6: 124,030,872 (GRCm39) |
V536I |
probably benign |
Het |
Wac |
A |
G |
18: 7,921,916 (GRCm39) |
T553A |
probably damaging |
Het |
Wdr33 |
A |
G |
18: 31,968,514 (GRCm39) |
H235R |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CATCCAGCACAGGAAGCTTGTCTC -3'
(R):5'- GAGTATGAACAGAGCCATCGTCACC -3'
Sequencing Primer
(F):5'- TCTGAGGTCAGGGAGTCAC -3'
(R):5'- AGCCATCGTCACCGTTGG -3'
|
Posted On |
2013-11-18 |