Incidental Mutation 'IGL01476:Wscd2'
ID |
88461 |
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 # |
IGL01476
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
113638199-113727786 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 113710382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 302
(D302G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094452]
|
AlphaFold |
D4PHA7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094452
AA Change: D302G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000092021 Gene: ENSMUSG00000063430 AA Change: D302G
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 |
Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
Abcc10 |
A |
G |
17: 46,638,863 (GRCm39) |
|
probably benign |
Het |
Atp13a2 |
G |
A |
4: 140,728,081 (GRCm39) |
C558Y |
probably damaging |
Het |
Btbd1 |
G |
A |
7: 81,450,797 (GRCm39) |
R328* |
probably null |
Het |
Cdk8 |
A |
G |
5: 146,231,973 (GRCm39) |
|
probably null |
Het |
Chd8 |
A |
T |
14: 52,442,947 (GRCm39) |
N534K |
probably benign |
Het |
Cybc1 |
T |
C |
11: 121,116,671 (GRCm39) |
Y86C |
probably damaging |
Het |
Dlgap2 |
C |
T |
8: 14,828,301 (GRCm39) |
R570* |
probably null |
Het |
Eri2 |
A |
C |
7: 119,389,472 (GRCm39) |
F149V |
probably damaging |
Het |
Esyt1 |
A |
G |
10: 128,347,363 (GRCm39) |
M1054T |
probably damaging |
Het |
Gcm2 |
A |
G |
13: 41,259,217 (GRCm39) |
V84A |
probably damaging |
Het |
Got1 |
A |
C |
19: 43,512,848 (GRCm39) |
V16G |
probably damaging |
Het |
Itga9 |
C |
T |
9: 118,436,179 (GRCm39) |
R62C |
probably damaging |
Het |
Kif21a |
T |
C |
15: 90,828,067 (GRCm39) |
R1232G |
possibly damaging |
Het |
Map1a |
A |
G |
2: 121,135,688 (GRCm39) |
Y1930C |
probably damaging |
Het |
Or1e25 |
T |
C |
11: 73,494,056 (GRCm39) |
S217P |
probably damaging |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Or2ag2b |
G |
A |
7: 106,417,827 (GRCm39) |
C179Y |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,571,122 (GRCm39) |
K169R |
probably damaging |
Het |
Rnf169 |
A |
C |
7: 99,604,691 (GRCm39) |
Y174D |
probably damaging |
Het |
Sarm1 |
T |
C |
11: 78,381,637 (GRCm39) |
E282G |
probably damaging |
Het |
Sec24a |
A |
G |
11: 51,599,783 (GRCm39) |
S840P |
possibly damaging |
Het |
Skor2 |
A |
T |
18: 76,946,362 (GRCm39) |
Q28L |
unknown |
Het |
Slc35f2 |
T |
C |
9: 53,713,990 (GRCm39) |
V168A |
possibly damaging |
Het |
Slc6a7 |
A |
T |
18: 61,138,845 (GRCm39) |
L221Q |
probably damaging |
Het |
Spata31e5 |
A |
T |
1: 28,816,534 (GRCm39) |
H499Q |
probably benign |
Het |
Syt4 |
A |
T |
18: 31,574,696 (GRCm39) |
V307E |
probably damaging |
Het |
Tasp1 |
A |
G |
2: 139,850,693 (GRCm39) |
L110S |
probably benign |
Het |
Thnsl1 |
T |
A |
2: 21,216,970 (GRCm39) |
D241E |
probably benign |
Het |
Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
Tpbpb |
A |
T |
13: 61,049,948 (GRCm39) |
D60E |
probably benign |
Het |
Trip11 |
T |
C |
12: 101,865,170 (GRCm39) |
I168V |
probably damaging |
Het |
Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
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 |
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 |
2013-11-18 |