Incidental Mutation 'R0488:Wsb1'
| ID |
42424 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wsb1
|
| Ensembl Gene |
ENSMUSG00000017677 |
| Gene Name |
WD repeat and SOCS box-containing 1 |
| Synonyms |
2700038M07Rik, 1110056B13Rik |
| MMRRC Submission |
038687-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.447)
|
| Stock # |
R0488 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
79130198-79145497 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79135326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 225
(D225G)
|
| 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: D225G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000017821
Gene: ENSMUSG00000017677
AA Change: D225G
| 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: D155G
|
| SMART Domains |
Protein: ENSMUSP00000131290
Gene: ENSMUSG00000017677
AA Change: D155G
| 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 |
0.5038 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (54/54) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
G |
11: 46,029,757 (GRCm39) |
L734R |
probably damaging |
Het |
| Adgrf1 |
T |
C |
17: 43,621,302 (GRCm39) |
I513T |
probably damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,552,541 (GRCm39) |
V654A |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,548,611 (GRCm39) |
Y1249* |
probably null |
Het |
| Ankar |
T |
A |
1: 72,697,891 (GRCm39) |
Q996H |
probably damaging |
Het |
| Aqp12 |
T |
C |
1: 92,936,378 (GRCm39) |
Y235H |
probably damaging |
Het |
| Arsb |
T |
C |
13: 94,077,013 (GRCm39) |
V460A |
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,467,444 (GRCm39) |
|
probably null |
Het |
| Cd44 |
T |
C |
2: 102,664,564 (GRCm39) |
|
probably benign |
Het |
| Clec4b1 |
T |
A |
6: 123,048,441 (GRCm39) |
I192N |
probably damaging |
Het |
| Cplane2 |
A |
G |
4: 140,941,712 (GRCm39) |
D14G |
probably benign |
Het |
| Cps1 |
A |
C |
1: 67,187,967 (GRCm39) |
|
probably benign |
Het |
| Dab2 |
T |
C |
15: 6,454,135 (GRCm39) |
L215S |
probably damaging |
Het |
| E2f4 |
G |
A |
8: 106,025,171 (GRCm39) |
V84I |
probably damaging |
Het |
| Edem2 |
T |
C |
2: 155,558,043 (GRCm39) |
T197A |
probably damaging |
Het |
| Eno2 |
T |
A |
6: 124,740,837 (GRCm39) |
M121L |
probably benign |
Het |
| Ephb1 |
A |
G |
9: 101,841,207 (GRCm39) |
V757A |
probably damaging |
Het |
| Etv5 |
T |
A |
16: 22,231,695 (GRCm39) |
I106F |
probably damaging |
Het |
| Foxj3 |
T |
A |
4: 119,477,187 (GRCm39) |
Y298* |
probably null |
Het |
| Gm12185 |
A |
G |
11: 48,798,666 (GRCm39) |
L609S |
probably damaging |
Het |
| Gm5884 |
T |
C |
6: 128,623,031 (GRCm39) |
|
noncoding transcript |
Het |
| Havcr1 |
A |
G |
11: 46,643,398 (GRCm39) |
Y106C |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,076,506 (GRCm39) |
N2110S |
probably damaging |
Het |
| Kif2b |
T |
C |
11: 91,467,798 (GRCm39) |
K162E |
probably benign |
Het |
| Micu2 |
T |
C |
14: 58,169,699 (GRCm39) |
Y217C |
probably benign |
Het |
| Mink1 |
G |
T |
11: 70,488,030 (GRCm39) |
G32C |
probably damaging |
Het |
| Mnat1 |
T |
A |
12: 73,217,413 (GRCm39) |
N96K |
probably damaging |
Het |
| Mpp2 |
G |
T |
11: 101,952,427 (GRCm39) |
R349S |
possibly damaging |
Het |
| Mrpl13 |
T |
A |
15: 55,402,544 (GRCm39) |
I59F |
probably benign |
Het |
| Mybl2 |
T |
C |
2: 162,914,534 (GRCm39) |
|
probably benign |
Het |
| Otogl |
T |
C |
10: 107,639,466 (GRCm39) |
E1382G |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,719,313 (GRCm39) |
E1150G |
unknown |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
| Pla2g4a |
G |
A |
1: 149,747,196 (GRCm39) |
T322M |
probably damaging |
Het |
| Pramel11 |
A |
T |
4: 143,621,973 (GRCm39) |
Y461N |
probably benign |
Het |
| Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
| Ptprg |
A |
T |
14: 12,220,653 (GRCm38) |
D455V |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,395,745 (GRCm39) |
T1162A |
probably damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,911,723 (GRCm39) |
N55D |
possibly damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,279,600 (GRCm39) |
E543G |
probably damaging |
Het |
| Rimklb |
G |
A |
6: 122,437,934 (GRCm39) |
T103I |
probably benign |
Het |
| Samd4b |
T |
C |
7: 28,113,662 (GRCm39) |
Y101C |
probably damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Tubgcp5 |
T |
A |
7: 55,479,086 (GRCm39) |
S979T |
probably damaging |
Het |
| Vmn2r93 |
G |
A |
17: 18,546,311 (GRCm39) |
E728K |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,146,087 (GRCm39) |
|
probably benign |
Het |
| Wdr90 |
T |
C |
17: 26,067,591 (GRCm39) |
Y1457C |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,345,165 (GRCm39) |
S2469P |
possibly damaging |
Het |
| Zeb1 |
T |
A |
18: 5,772,455 (GRCm39) |
C915S |
probably damaging |
Het |
| Znfx1 |
C |
A |
2: 166,884,483 (GRCm39) |
R923L |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACGCTGTCAAACCATGTGAAG -3'
(R):5'- ACGGGTGGCTGATATTGAAGGC -3'
Sequencing Primer
(F):5'- ttttCAGTTAAATGTCCATGATCAAC -3'
(R):5'- TCCGTCGAGGTGTTACTGAT -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation