Incidental Mutation 'IGL01113:Wscd2'
ID |
51128 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wscd2
|
Ensembl Gene |
ENSMUSG00000063430 |
Gene Name |
WSC domain containing 2 |
Synonyms |
4933413A10Rik, C530024P05Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01113
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
113638199-113727786 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 113708800 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 268
(V268A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094452]
|
AlphaFold |
D4PHA7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094452
AA Change: V268A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092021 Gene: ENSMUSG00000063430 AA Change: V268A
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: ENSMUST00000181294
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930544L04Rik |
A |
G |
7: 134,998,871 (GRCm39) |
|
noncoding transcript |
Het |
Adam34l |
T |
C |
8: 44,079,189 (GRCm39) |
H345R |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,637,147 (GRCm39) |
F3431L |
probably benign |
Het |
Adk |
A |
G |
14: 21,142,461 (GRCm39) |
N21S |
probably damaging |
Het |
Cacna2d3 |
A |
G |
14: 29,022,688 (GRCm39) |
|
probably benign |
Het |
Camk2d |
C |
A |
3: 126,574,061 (GRCm39) |
A156E |
probably damaging |
Het |
Ccdc171 |
G |
T |
4: 83,580,047 (GRCm39) |
W598L |
probably damaging |
Het |
Cep85 |
C |
T |
4: 133,876,072 (GRCm39) |
V445I |
possibly damaging |
Het |
Cftr |
A |
G |
6: 18,270,252 (GRCm39) |
Y814C |
probably damaging |
Het |
Dctn1 |
T |
C |
6: 83,156,879 (GRCm39) |
S9P |
probably benign |
Het |
Dmxl1 |
A |
G |
18: 50,045,818 (GRCm39) |
K2409R |
probably benign |
Het |
Dnaaf1 |
T |
A |
8: 120,309,317 (GRCm39) |
I135N |
probably damaging |
Het |
Eif3d |
G |
A |
15: 77,847,515 (GRCm39) |
T241M |
probably damaging |
Het |
Etv1 |
T |
C |
12: 38,831,791 (GRCm39) |
|
probably benign |
Het |
Gdpd3 |
C |
A |
7: 126,366,997 (GRCm39) |
S182R |
probably benign |
Het |
Gm12888 |
C |
A |
4: 121,175,521 (GRCm39) |
C87F |
probably damaging |
Het |
Gml |
C |
A |
15: 74,685,576 (GRCm39) |
M136I |
probably benign |
Het |
Habp2 |
A |
G |
19: 56,298,548 (GRCm39) |
T137A |
probably benign |
Het |
Igkv6-25 |
C |
T |
6: 70,192,772 (GRCm39) |
P60S |
possibly damaging |
Het |
Mak |
A |
T |
13: 41,195,619 (GRCm39) |
W396R |
probably damaging |
Het |
Mast4 |
C |
A |
13: 102,910,744 (GRCm39) |
C441F |
probably damaging |
Het |
Medag |
T |
C |
5: 149,353,372 (GRCm39) |
I189T |
probably benign |
Het |
Myh1 |
A |
G |
11: 67,093,006 (GRCm39) |
T71A |
probably benign |
Het |
Nin |
G |
T |
12: 70,078,553 (GRCm39) |
L1678M |
probably damaging |
Het |
Nol6 |
T |
C |
4: 41,115,749 (GRCm39) |
D1081G |
probably damaging |
Het |
Or1j4 |
A |
T |
2: 36,740,631 (GRCm39) |
D191V |
probably damaging |
Het |
Or6f1 |
A |
T |
7: 85,970,361 (GRCm39) |
D266E |
probably benign |
Het |
Ppp1r10 |
T |
A |
17: 36,240,451 (GRCm39) |
N580K |
probably damaging |
Het |
Rpgrip1l |
T |
C |
8: 91,987,367 (GRCm39) |
|
probably benign |
Het |
Serpinb3a |
G |
A |
1: 106,978,789 (GRCm39) |
Q57* |
probably null |
Het |
Thumpd3 |
T |
C |
6: 113,037,021 (GRCm39) |
S307P |
probably benign |
Het |
Upf1 |
A |
C |
8: 70,790,934 (GRCm39) |
D577E |
probably benign |
Het |
Vmn2r99 |
T |
C |
17: 19,614,518 (GRCm39) |
V746A |
probably benign |
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 |
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 |
|
R0381:Wscd2
|
UTSW |
5 |
113,689,192 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
|
Posted On |
2013-06-21 |