Incidental Mutation 'IGL01894:Wscd2'
| ID |
179325 |
| 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 # |
IGL01894
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
113638199-113727786 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 113710357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 294
(R294W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094452]
|
| AlphaFold |
D4PHA7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094452
AA Change: R294W
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092021
Gene: ENSMUSG00000063430
AA Change: R294W
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
T |
A |
8: 56,324,865 (GRCm39) |
I530L |
probably benign |
Het |
| Adam3 |
T |
C |
8: 25,177,954 (GRCm39) |
D653G |
probably benign |
Het |
| Car13 |
T |
C |
3: 14,726,525 (GRCm39) |
F227S |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,417,747 (GRCm39) |
N300S |
probably benign |
Het |
| Fat3 |
C |
T |
9: 16,287,145 (GRCm39) |
V793I |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gpa33 |
T |
A |
1: 165,992,785 (GRCm39) |
D299E |
probably benign |
Het |
| Kif5a |
C |
T |
10: 127,098,648 (GRCm39) |
V40I |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,705,121 (GRCm39) |
H1455R |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,122,828 (GRCm39) |
K751E |
possibly damaging |
Het |
| Nek5 |
T |
A |
8: 22,603,835 (GRCm39) |
H114L |
probably damaging |
Het |
| Nipal1 |
G |
A |
5: 72,820,882 (GRCm39) |
A37T |
probably benign |
Het |
| Or13a24 |
T |
C |
7: 140,154,683 (GRCm39) |
Y206H |
possibly damaging |
Het |
| Or5b101 |
G |
T |
19: 13,005,649 (GRCm39) |
L15I |
probably damaging |
Het |
| Or5b96 |
T |
C |
19: 12,867,007 (GRCm39) |
|
probably benign |
Het |
| Pik3ca |
T |
C |
3: 32,504,175 (GRCm39) |
Y622H |
possibly damaging |
Het |
| Pknox2 |
G |
T |
9: 36,835,038 (GRCm39) |
H144N |
probably damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,559,397 (GRCm39) |
Y526C |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,227,557 (GRCm39) |
D54G |
probably damaging |
Het |
| Rpn2 |
C |
T |
2: 157,136,093 (GRCm39) |
T167I |
probably benign |
Het |
| Slc22a30 |
G |
T |
19: 8,364,021 (GRCm39) |
H218Q |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,113,664 (GRCm39) |
S878P |
probably benign |
Het |
| Tmem184c |
A |
T |
8: 78,323,775 (GRCm39) |
C362* |
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
2014-05-07 |
Incidental Mutation