Incidental Mutation 'R2449:Wsb1'
ID |
248945 |
Institutional Source |
Beutler Lab
|
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 # |
R2449 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
79130198-79145497 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79131178 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 406
(K406R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017821
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017821]
[ENSMUST00000131848]
[ENSMUST00000145772]
|
AlphaFold |
O54927 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000017821
AA Change: K406R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000017821 Gene: ENSMUSG00000017677 AA Change: K406R
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 |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
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: 16 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Cd83 |
A |
T |
13: 43,951,132 (GRCm39) |
T95S |
probably damaging |
Het |
Cdc27 |
T |
C |
11: 104,396,464 (GRCm39) |
D819G |
probably benign |
Het |
Hey2 |
A |
T |
10: 30,716,442 (GRCm39) |
I64K |
possibly damaging |
Het |
Il10rb |
A |
G |
16: 91,208,791 (GRCm39) |
H67R |
probably benign |
Het |
Itgav |
T |
A |
2: 83,599,094 (GRCm39) |
|
probably null |
Het |
Lhx1 |
G |
A |
11: 84,412,564 (GRCm39) |
R119C |
probably damaging |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or12j2 |
A |
T |
7: 139,916,345 (GRCm39) |
Q190L |
probably benign |
Het |
Siglec1 |
T |
C |
2: 130,920,645 (GRCm39) |
T720A |
probably benign |
Het |
Sycp1 |
T |
C |
3: 102,832,522 (GRCm39) |
I215V |
probably benign |
Het |
Trim63 |
A |
G |
4: 134,050,418 (GRCm39) |
E234G |
probably damaging |
Het |
Vmn2r56 |
C |
T |
7: 12,428,082 (GRCm39) |
S728N |
possibly damaging |
Het |
Wdr64 |
A |
T |
1: 175,526,479 (GRCm39) |
I43L |
probably benign |
Het |
|
Other mutations in Wsb1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01760:Wsb1
|
APN |
11 |
79,132,867 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCCATTCAATATATAGCAGCAG -3'
(R):5'- TCTACAGCTGTAGGGACATAGGAC -3'
Sequencing Primer
(F):5'- GCAGCAGCTCATGTCTAAATATATAC -3'
(R):5'- CATAGGACAAGTGTAGTTGTGTAACC -3'
|
Posted On |
2014-11-12 |