Incidental Mutation 'R6498:Wsb1'
| ID |
523114 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wsb1
|
| Ensembl Gene |
ENSMUSG00000017677 |
| Gene Name |
WD repeat and SOCS box-containing 1 |
| Synonyms |
2700038M07Rik, 1110056B13Rik |
| MMRRC Submission |
044630-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.447)
|
| Stock # |
R6498 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
79130198-79145497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79139315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 127
(V127D)
|
| 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: V127D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000017821
Gene: ENSMUSG00000017677
AA Change: V127D
| 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 |
unknown
Transcript: ENSMUST00000131818
AA Change: V57D
|
| SMART Domains |
Protein: ENSMUSP00000131290
Gene: ENSMUSG00000017677
AA Change: V57D
| 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 |
silent
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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.8%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
G |
11: 110,182,928 (GRCm39) |
N1043T |
possibly damaging |
Het |
| Actn2 |
C |
T |
13: 12,291,359 (GRCm39) |
E682K |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,624,854 (GRCm39) |
V833A |
possibly damaging |
Het |
| Arrb2 |
G |
T |
11: 70,330,375 (GRCm39) |
R333L |
probably benign |
Het |
| Atp9b |
C |
T |
18: 80,820,230 (GRCm39) |
S135N |
probably benign |
Het |
| Cep112 |
T |
A |
11: 108,331,357 (GRCm39) |
S135R |
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,124,132 (GRCm39) |
R1607* |
probably null |
Het |
| Duox1 |
A |
T |
2: 122,150,088 (GRCm39) |
S160C |
probably damaging |
Het |
| Eogt |
A |
T |
6: 97,112,174 (GRCm39) |
Y160N |
probably damaging |
Het |
| Exosc10 |
T |
C |
4: 148,657,795 (GRCm39) |
V647A |
probably benign |
Het |
| Fbxo44 |
C |
T |
4: 148,238,882 (GRCm39) |
|
|
Het |
| Fen1 |
G |
T |
19: 10,177,479 (GRCm39) |
R322S |
probably damaging |
Het |
| Gls |
A |
C |
1: 52,259,198 (GRCm39) |
N134K |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,235,112 (GRCm39) |
V82A |
possibly damaging |
Het |
| Il33 |
G |
A |
19: 29,927,137 (GRCm39) |
E23K |
probably benign |
Het |
| Macroh2a2 |
C |
A |
10: 61,593,614 (GRCm39) |
V21F |
probably damaging |
Het |
| Map2k5 |
C |
A |
9: 63,193,683 (GRCm39) |
A266S |
possibly damaging |
Het |
| Or13g1 |
T |
C |
7: 85,956,226 (GRCm39) |
I32V |
probably benign |
Het |
| Or2t29 |
T |
A |
11: 58,433,408 (GRCm39) |
N298I |
probably damaging |
Het |
| Or5p61 |
C |
T |
7: 107,758,639 (GRCm39) |
C147Y |
probably benign |
Het |
| Pcdh1 |
G |
A |
18: 38,330,490 (GRCm39) |
P838S |
probably benign |
Het |
| Pcdha5 |
A |
G |
18: 37,095,768 (GRCm39) |
E759G |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,719,505 (GRCm39) |
I1214T |
unknown |
Het |
| Per3 |
T |
C |
4: 151,113,662 (GRCm39) |
I299V |
probably benign |
Het |
| Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
| Synpo2 |
A |
T |
3: 122,873,881 (GRCm39) |
|
probably null |
Het |
| Sys1 |
G |
A |
2: 164,306,438 (GRCm39) |
A131T |
probably benign |
Het |
| Tekt2 |
A |
G |
4: 126,218,098 (GRCm39) |
L138P |
probably benign |
Het |
| Tmprss12 |
T |
A |
15: 100,183,133 (GRCm39) |
N158K |
probably damaging |
Het |
| Tnrc18 |
A |
T |
5: 142,717,923 (GRCm39) |
M2177K |
unknown |
Het |
| Trim43a |
T |
A |
9: 88,464,395 (GRCm39) |
I102N |
probably damaging |
Het |
| Ugt1a10 |
C |
A |
1: 88,143,862 (GRCm39) |
H361N |
probably damaging |
Het |
| Utrn |
C |
T |
10: 12,317,837 (GRCm39) |
C498Y |
probably benign |
Het |
| Vmn1r39 |
A |
T |
6: 66,781,841 (GRCm39) |
V159D |
probably damaging |
Het |
| Vmn1r44 |
A |
G |
6: 89,870,562 (GRCm39) |
T103A |
probably benign |
Het |
| Zfp268 |
T |
A |
4: 145,349,459 (GRCm39) |
C299S |
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 |
|
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'- AGACCCAAACCTGCTTTGC -3'
(R):5'- GAGGGTTCTCAGCCAACAATAG -3'
Sequencing Primer
(F):5'- CCAAACCTGCTTTGCATATTTTATC -3'
(R):5'- GGGTTCTCAGCCAACAATAGTTTTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation