Incidental Mutation 'IGL00323:Wscd2'
| ID |
14874 |
| 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 # |
IGL00323
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
113638199-113727786 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 113689236 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 81
(T81P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094452]
|
| AlphaFold |
D4PHA7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094452
AA Change: T81P
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000092021
Gene: ENSMUSG00000063430
AA Change: T81P
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5m1 |
T |
C |
14: 49,311,247 (GRCm39) |
Y106H |
probably damaging |
Het |
| Atrnl1 |
C |
A |
19: 57,680,249 (GRCm39) |
N716K |
probably benign |
Het |
| Ccnq |
A |
G |
11: 78,641,782 (GRCm39) |
V236A |
probably benign |
Het |
| Cdk13 |
A |
T |
13: 17,895,683 (GRCm39) |
N1075K |
possibly damaging |
Het |
| Daam1 |
G |
A |
12: 72,005,517 (GRCm39) |
|
probably benign |
Het |
| Exd2 |
T |
C |
12: 80,522,940 (GRCm39) |
V133A |
probably damaging |
Het |
| Glrb |
T |
C |
3: 80,769,262 (GRCm39) |
D155G |
probably damaging |
Het |
| Gm13941 |
T |
A |
2: 110,935,198 (GRCm39) |
M11L |
unknown |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Inpp5d |
G |
T |
1: 87,611,537 (GRCm39) |
V329F |
probably benign |
Het |
| Lilrb4b |
A |
T |
10: 51,357,347 (GRCm39) |
D61V |
probably benign |
Het |
| Malt1 |
T |
A |
18: 65,582,034 (GRCm39) |
C299* |
probably null |
Het |
| Or10j27 |
G |
A |
1: 172,957,978 (GRCm39) |
Q269* |
probably null |
Het |
| Or4f14 |
A |
T |
2: 111,742,381 (GRCm39) |
M298K |
possibly damaging |
Het |
| Pigk |
C |
A |
3: 152,453,269 (GRCm39) |
S282* |
probably null |
Het |
| Pik3r1 |
T |
A |
13: 101,827,044 (GRCm39) |
M1L |
probably benign |
Het |
| Pnpla1 |
A |
G |
17: 29,096,416 (GRCm39) |
Y165C |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,524,702 (GRCm39) |
N631D |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,416,969 (GRCm39) |
D1381V |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,382,223 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
T |
11: 106,210,745 (GRCm39) |
D1757E |
probably benign |
Het |
| Sec62 |
T |
C |
3: 30,864,591 (GRCm39) |
|
probably benign |
Het |
| Smarca5 |
G |
A |
8: 81,440,670 (GRCm39) |
T598M |
probably benign |
Het |
| Sptbn5 |
T |
C |
2: 119,884,948 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
C |
7: 127,141,885 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
T |
A |
14: 30,861,263 (GRCm39) |
E71D |
probably benign |
Het |
| Trhde |
A |
T |
10: 114,322,652 (GRCm39) |
S716R |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,726,859 (GRCm39) |
|
probably benign |
Het |
| Zfp335 |
G |
A |
2: 164,734,302 (GRCm39) |
T1295I |
probably damaging |
Het |
|
| Other mutations in Wscd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2012-12-06 |
Incidental Mutation