Incidental Mutation 'R0381:Wscd2'
ID |
30968 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wscd2
|
Ensembl Gene |
ENSMUSG00000063430 |
Gene Name |
WSC domain containing 2 |
Synonyms |
4933413A10Rik, C530024P05Rik |
MMRRC Submission |
038587-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0381 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
113638199-113727786 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 113689192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 66
(L66Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094452]
|
AlphaFold |
D4PHA7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094452
AA Change: L66Q
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000092021 Gene: ENSMUSG00000063430 AA Change: L66Q
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
low complexity region
|
44 |
61 |
N/A |
INTRINSIC |
WSC
|
133 |
225 |
6.11e-44 |
SMART |
WSC
|
236 |
330 |
9.49e-41 |
SMART |
Blast:WSC
|
389 |
409 |
2e-6 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180565
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181650
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc8 |
A |
G |
7: 45,757,858 (GRCm39) |
V1297A |
possibly damaging |
Het |
Agbl2 |
C |
T |
2: 90,614,442 (GRCm39) |
H25Y |
probably damaging |
Het |
Akap11 |
A |
T |
14: 78,750,990 (GRCm39) |
W466R |
probably benign |
Het |
Ccdc66 |
T |
A |
14: 27,213,890 (GRCm39) |
Q471L |
probably damaging |
Het |
Dennd1c |
G |
A |
17: 57,380,822 (GRCm39) |
A210V |
probably damaging |
Het |
F13b |
A |
G |
1: 139,438,597 (GRCm39) |
K334E |
probably damaging |
Het |
Fam186a |
A |
C |
15: 99,840,055 (GRCm39) |
I2063R |
probably damaging |
Het |
Fcrl5 |
T |
C |
3: 87,353,767 (GRCm39) |
Y371H |
probably damaging |
Het |
Fnbp1 |
C |
T |
2: 30,923,041 (GRCm39) |
G549D |
probably benign |
Het |
Fndc3a |
A |
G |
14: 72,794,067 (GRCm39) |
Y869H |
probably benign |
Het |
Gm7592 |
A |
G |
1: 85,454,437 (GRCm39) |
|
noncoding transcript |
Het |
Gucy2d |
C |
A |
7: 98,108,209 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
C |
T |
1: 150,479,562 (GRCm39) |
C4634Y |
probably damaging |
Het |
Kctd5 |
A |
G |
17: 24,278,194 (GRCm39) |
|
probably null |
Het |
Kics2 |
T |
C |
10: 121,581,280 (GRCm39) |
Y94H |
probably damaging |
Het |
Mettl24 |
C |
A |
10: 40,622,386 (GRCm39) |
H203N |
probably damaging |
Het |
Mitf |
A |
G |
6: 97,970,104 (GRCm39) |
E17G |
probably damaging |
Het |
Mmut |
T |
A |
17: 41,248,149 (GRCm39) |
W59R |
probably benign |
Het |
Mrc1 |
G |
A |
2: 14,312,720 (GRCm39) |
D881N |
probably benign |
Het |
Mrm1 |
T |
C |
11: 84,709,509 (GRCm39) |
T183A |
possibly damaging |
Het |
Mylk |
G |
A |
16: 34,605,344 (GRCm39) |
|
probably null |
Het |
Nab2 |
G |
A |
10: 127,500,936 (GRCm39) |
A19V |
probably damaging |
Het |
Ntsr2 |
T |
A |
12: 16,709,719 (GRCm39) |
Y333* |
probably null |
Het |
Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
Sypl2 |
T |
C |
3: 108,133,473 (GRCm39) |
E32G |
possibly damaging |
Het |
Tasp1 |
T |
C |
2: 139,793,403 (GRCm39) |
K258E |
probably damaging |
Het |
Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
Tenm4 |
G |
T |
7: 96,555,088 (GRCm39) |
V2561F |
probably damaging |
Het |
Tmc1 |
T |
C |
19: 20,776,409 (GRCm39) |
Y650C |
probably damaging |
Het |
Trim34b |
T |
C |
7: 103,979,062 (GRCm39) |
L103P |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,662,600 (GRCm39) |
|
probably null |
Het |
Vmn1r201 |
T |
A |
13: 22,659,193 (GRCm39) |
W136R |
probably damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,268,264 (GRCm39) |
Y68* |
probably null |
Het |
|
Other mutations in Wscd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00323:Wscd2
|
APN |
5 |
113,689,236 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL01113:Wscd2
|
APN |
5 |
113,708,800 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01476:Wscd2
|
APN |
5 |
113,710,382 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01894:Wscd2
|
APN |
5 |
113,710,357 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02560:Wscd2
|
APN |
5 |
113,699,045 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02755:Wscd2
|
APN |
5 |
113,712,092 (GRCm39) |
missense |
possibly damaging |
0.66 |
froggie
|
UTSW |
5 |
113,726,206 (GRCm39) |
makesense |
probably null |
|
R1144:Wscd2
|
UTSW |
5 |
113,699,151 (GRCm39) |
splice site |
probably null |
|
R1858:Wscd2
|
UTSW |
5 |
113,689,231 (GRCm39) |
missense |
possibly damaging |
0.63 |
R3695:Wscd2
|
UTSW |
5 |
113,689,078 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4231:Wscd2
|
UTSW |
5 |
113,699,045 (GRCm39) |
missense |
probably benign |
0.00 |
R4232:Wscd2
|
UTSW |
5 |
113,699,045 (GRCm39) |
missense |
probably benign |
0.00 |
R4667:Wscd2
|
UTSW |
5 |
113,715,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R4696:Wscd2
|
UTSW |
5 |
113,689,240 (GRCm39) |
missense |
probably benign |
|
R5727:Wscd2
|
UTSW |
5 |
113,715,411 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6401:Wscd2
|
UTSW |
5 |
113,726,206 (GRCm39) |
makesense |
probably null |
|
R7413:Wscd2
|
UTSW |
5 |
113,715,402 (GRCm39) |
missense |
probably benign |
0.02 |
R7642:Wscd2
|
UTSW |
5 |
113,715,475 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7837:Wscd2
|
UTSW |
5 |
113,710,394 (GRCm39) |
missense |
probably damaging |
1.00 |
R8046:Wscd2
|
UTSW |
5 |
113,689,176 (GRCm39) |
missense |
probably benign |
0.05 |
R8331:Wscd2
|
UTSW |
5 |
113,688,996 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R8348:Wscd2
|
UTSW |
5 |
113,710,371 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8680:Wscd2
|
UTSW |
5 |
113,712,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R8928:Wscd2
|
UTSW |
5 |
113,715,401 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9125:Wscd2
|
UTSW |
5 |
113,715,417 (GRCm39) |
missense |
probably benign |
0.33 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTTCAAGTTCCAGCGGTGTTTCC -3'
(R):5'- GCAACGAGACCAGTTTTGTGGC -3'
Sequencing Primer
(F):5'- CGGTATTTCCGCAGGAAGC -3'
(R):5'- ctcctcctccttttccttctc -3'
|
Posted On |
2013-04-24 |