Incidental Mutation 'R6608:Wsb1'
ID |
525787 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wsb1
|
Ensembl Gene |
ENSMUSG00000017677 |
Gene Name |
WD repeat and SOCS box-containing 1 |
Synonyms |
2700038M07Rik, 1110056B13Rik |
MMRRC Submission |
044731-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.447)
|
Stock # |
R6608 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
79130198-79145497 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 79131188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 403
(E403K)
|
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: E403K
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000017821 Gene: ENSMUSG00000017677 AA Change: E403K
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
|
Meta Mutation Damage Score |
0.0853 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
Validation Efficiency |
98% (43/44) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
T |
C |
5: 121,770,555 (GRCm39) |
T571A |
probably benign |
Het |
Adamts18 |
A |
T |
8: 114,501,911 (GRCm39) |
Y317N |
probably damaging |
Het |
Adgrg5 |
T |
C |
8: 95,668,348 (GRCm39) |
F470S |
probably damaging |
Het |
AK157302 |
T |
C |
13: 21,679,794 (GRCm39) |
S107P |
probably damaging |
Het |
Ankrd31 |
A |
G |
13: 96,969,288 (GRCm39) |
Y975C |
probably damaging |
Het |
Ankrd37 |
C |
T |
8: 46,452,891 (GRCm39) |
|
probably benign |
Het |
Aox1 |
T |
C |
1: 58,096,705 (GRCm39) |
Y267H |
probably benign |
Het |
Cdan1 |
A |
C |
2: 120,557,161 (GRCm39) |
I555R |
possibly damaging |
Het |
Clns1a |
A |
G |
7: 97,365,675 (GRCm39) |
T226A |
probably benign |
Het |
Col18a1 |
C |
T |
10: 76,948,628 (GRCm39) |
|
probably benign |
Het |
Col5a3 |
C |
A |
9: 20,685,315 (GRCm39) |
V1454L |
unknown |
Het |
Coq6 |
G |
A |
12: 84,418,922 (GRCm39) |
V309I |
probably benign |
Het |
Decr2 |
C |
T |
17: 26,302,858 (GRCm39) |
V173M |
probably benign |
Het |
Dmgdh |
G |
A |
13: 93,843,252 (GRCm39) |
G363S |
possibly damaging |
Het |
Dnah7a |
A |
T |
1: 53,564,277 (GRCm39) |
D1927E |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Epm2a |
T |
C |
10: 11,266,731 (GRCm39) |
|
probably null |
Het |
Gm1979 |
T |
A |
5: 26,206,094 (GRCm39) |
H162L |
probably benign |
Het |
Irag1 |
A |
T |
7: 110,487,758 (GRCm39) |
S486T |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,917,093 (GRCm39) |
N1759D |
probably damaging |
Het |
Man1b1 |
T |
A |
2: 25,233,263 (GRCm39) |
V212E |
probably damaging |
Het |
Marf1 |
A |
G |
16: 13,950,578 (GRCm39) |
L936S |
probably damaging |
Het |
Mki67 |
G |
A |
7: 135,300,090 (GRCm39) |
T1648I |
probably benign |
Het |
Or2n1c |
T |
C |
17: 38,519,370 (GRCm39) |
V78A |
probably damaging |
Het |
Or3a1b |
T |
C |
11: 74,012,454 (GRCm39) |
V113A |
probably benign |
Het |
Or5d40 |
A |
G |
2: 88,016,049 (GRCm39) |
Y276C |
possibly damaging |
Het |
Or6n2 |
A |
G |
1: 173,897,295 (GRCm39) |
M144V |
probably benign |
Het |
Parp11 |
A |
G |
6: 127,454,811 (GRCm39) |
I110V |
possibly damaging |
Het |
Pcdhb5 |
A |
G |
18: 37,454,876 (GRCm39) |
T419A |
probably damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,160,875 (GRCm39) |
D838G |
probably damaging |
Het |
Rbm26 |
T |
A |
14: 105,389,934 (GRCm39) |
N230I |
probably damaging |
Het |
Rnf20 |
C |
T |
4: 49,650,051 (GRCm39) |
S540F |
probably benign |
Het |
Rsad1 |
T |
C |
11: 94,433,435 (GRCm39) |
D417G |
probably damaging |
Het |
Serpina3c |
A |
T |
12: 104,115,883 (GRCm39) |
N220K |
probably benign |
Het |
Slc6a19 |
A |
G |
13: 73,832,091 (GRCm39) |
L495P |
probably damaging |
Het |
Stard7 |
A |
T |
2: 127,132,715 (GRCm39) |
K194N |
probably damaging |
Het |
Tinagl1 |
A |
G |
4: 130,066,782 (GRCm39) |
M105T |
probably benign |
Het |
Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
Tyk2 |
G |
T |
9: 21,019,312 (GRCm39) |
Q1014K |
probably benign |
Het |
Usp10 |
C |
T |
8: 120,675,161 (GRCm39) |
R461W |
probably benign |
Het |
Ylpm1 |
C |
G |
12: 85,062,051 (GRCm39) |
P651A |
unknown |
Het |
Zp1 |
C |
T |
19: 10,896,344 (GRCm39) |
C127Y |
possibly damaging |
Het |
Zzef1 |
T |
A |
11: 72,803,652 (GRCm39) |
F2466L |
probably damaging |
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 |
|
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 |
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'- GCCCATTCAATATATAGCAGCAGC -3'
(R):5'- CTACAGCTGTAGGGACATAGGAC -3'
Sequencing Primer
(F):5'- GCAGCAGCTCATGTCTAAATATATAC -3'
(R):5'- CATAGGACAAGTGTAGTTGTGTAACC -3'
|
Posted On |
2018-06-22 |