Incidental Mutation 'IGL01760:Wsb1'
ID |
153249 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wsb1
|
Ensembl Gene |
ENSMUSG00000017677 |
Gene Name |
WD repeat and SOCS box-containing 1 |
Synonyms |
2700038M07Rik, 1110056B13Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.406)
|
Stock # |
IGL01760
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
79130198-79145497 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79132867 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 276
(Y276C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017821
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017821]
[ENSMUST00000131848]
[ENSMUST00000145772]
|
AlphaFold |
O54927 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017821
AA Change: Y276C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000017821 Gene: ENSMUSG00000017677 AA Change: Y276C
Domain | Start | End | E-Value | Type |
Blast:WD40
|
25 |
62 |
2e-16 |
BLAST |
WD40
|
117 |
156 |
8.4e-2 |
SMART |
WD40
|
159 |
199 |
2.5e-10 |
SMART |
WD40
|
203 |
242 |
5.9e-10 |
SMART |
WD40
|
245 |
284 |
2.9e-11 |
SMART |
WD40
|
300 |
339 |
1.2e-5 |
SMART |
WD40
|
342 |
379 |
1.1e-4 |
SMART |
SOCS
|
378 |
420 |
2.7e-18 |
SMART |
SOCS_box
|
384 |
420 |
4.1e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131818
|
SMART Domains |
Protein: ENSMUSP00000131290 Gene: ENSMUSG00000017677
Domain | Start | End | E-Value | Type |
WD40
|
48 |
87 |
1.33e1 |
SMART |
WD40
|
90 |
130 |
3.72e-8 |
SMART |
WD40
|
134 |
172 |
4.18e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131848
|
SMART Domains |
Protein: ENSMUSP00000128181 Gene: ENSMUSG00000017677
Domain | Start | End | E-Value | Type |
Blast:WD40
|
25 |
62 |
2e-19 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137890
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145772
|
SMART Domains |
Protein: ENSMUSP00000137999 Gene: ENSMUSG00000017677
Domain | Start | End | E-Value | Type |
Blast:WD40
|
25 |
62 |
3e-19 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150416
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153585
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre5 |
T |
A |
8: 84,458,586 (GRCm39) |
T147S |
probably benign |
Het |
Chst3 |
A |
T |
10: 60,022,292 (GRCm39) |
V185D |
probably damaging |
Het |
Col14a1 |
A |
C |
15: 55,286,855 (GRCm39) |
D892A |
unknown |
Het |
Dop1a |
A |
G |
9: 86,401,976 (GRCm39) |
T1059A |
probably benign |
Het |
Eif1ad3 |
A |
T |
12: 87,843,791 (GRCm39) |
|
probably benign |
Het |
Erlec1 |
A |
C |
11: 30,884,731 (GRCm39) |
S441A |
probably benign |
Het |
Frmd4b |
G |
T |
6: 97,285,663 (GRCm39) |
T289N |
probably damaging |
Het |
Gm6133 |
G |
A |
18: 78,393,390 (GRCm39) |
R128Q |
probably benign |
Het |
Gnai2 |
A |
G |
9: 107,493,717 (GRCm39) |
S155P |
probably damaging |
Het |
Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,239,982 (GRCm39) |
S517P |
possibly damaging |
Het |
Ighv9-1 |
C |
A |
12: 114,057,814 (GRCm39) |
E29* |
probably null |
Het |
Lrp1 |
T |
C |
10: 127,409,370 (GRCm39) |
K1583R |
probably benign |
Het |
Ltbp1 |
C |
T |
17: 75,534,145 (GRCm39) |
T211M |
probably damaging |
Het |
Mttp |
A |
G |
3: 137,817,497 (GRCm39) |
S418P |
probably benign |
Het |
Napa |
A |
G |
7: 15,832,669 (GRCm39) |
N23S |
possibly damaging |
Het |
Odf2 |
C |
A |
2: 29,804,472 (GRCm39) |
Q347K |
probably damaging |
Het |
Ogdhl |
A |
G |
14: 32,061,894 (GRCm39) |
D504G |
probably damaging |
Het |
Or10aa1 |
T |
C |
1: 173,870,191 (GRCm39) |
L225P |
probably damaging |
Het |
Pdxdc1 |
A |
T |
16: 13,677,016 (GRCm39) |
N273K |
probably damaging |
Het |
Rslcan18 |
T |
C |
13: 67,262,015 (GRCm39) |
I11V |
probably benign |
Het |
Spidr |
G |
T |
16: 15,730,424 (GRCm39) |
R664S |
possibly damaging |
Het |
Tead3 |
T |
C |
17: 28,552,055 (GRCm39) |
N385S |
probably benign |
Het |
Trim13 |
T |
A |
14: 61,843,172 (GRCm39) |
N396K |
probably benign |
Het |
Trp53bp2 |
C |
T |
1: 182,275,993 (GRCm39) |
A160V |
possibly damaging |
Het |
Vmn2r69 |
A |
G |
7: 85,056,072 (GRCm39) |
S689P |
possibly damaging |
Het |
Vmn2r79 |
A |
T |
7: 86,651,366 (GRCm39) |
Q255L |
probably benign |
Het |
Zfp236 |
G |
T |
18: 82,639,547 (GRCm39) |
N1233K |
probably damaging |
Het |
|
Other mutations in Wsb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02352:Wsb1
|
APN |
11 |
79,141,838 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02359:Wsb1
|
APN |
11 |
79,141,838 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03218:Wsb1
|
APN |
11 |
79,139,324 (GRCm39) |
missense |
probably damaging |
0.97 |
R0488:Wsb1
|
UTSW |
11 |
79,135,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R1051:Wsb1
|
UTSW |
11 |
79,137,059 (GRCm39) |
missense |
probably damaging |
1.00 |
R1612:Wsb1
|
UTSW |
11 |
79,139,411 (GRCm39) |
missense |
probably benign |
0.31 |
R2202:Wsb1
|
UTSW |
11 |
79,131,212 (GRCm39) |
missense |
probably benign |
|
R2449:Wsb1
|
UTSW |
11 |
79,131,178 (GRCm39) |
missense |
probably benign |
|
R4782:Wsb1
|
UTSW |
11 |
79,131,199 (GRCm39) |
missense |
probably benign |
0.44 |
R4805:Wsb1
|
UTSW |
11 |
79,131,217 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4932:Wsb1
|
UTSW |
11 |
79,141,826 (GRCm39) |
missense |
probably damaging |
0.96 |
R5458:Wsb1
|
UTSW |
11 |
79,139,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R6032:Wsb1
|
UTSW |
11 |
79,131,025 (GRCm39) |
unclassified |
probably benign |
|
R6032:Wsb1
|
UTSW |
11 |
79,131,025 (GRCm39) |
unclassified |
probably benign |
|
R6140:Wsb1
|
UTSW |
11 |
79,132,444 (GRCm39) |
missense |
probably damaging |
0.98 |
R6192:Wsb1
|
UTSW |
11 |
79,139,336 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6498:Wsb1
|
UTSW |
11 |
79,139,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R6545:Wsb1
|
UTSW |
11 |
79,141,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R6608:Wsb1
|
UTSW |
11 |
79,131,188 (GRCm39) |
missense |
probably benign |
0.30 |
R7142:Wsb1
|
UTSW |
11 |
79,141,814 (GRCm39) |
missense |
probably benign |
0.01 |
R7339:Wsb1
|
UTSW |
11 |
79,131,184 (GRCm39) |
missense |
probably damaging |
0.97 |
R7361:Wsb1
|
UTSW |
11 |
79,131,623 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8338:Wsb1
|
UTSW |
11 |
79,137,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |