Incidental Mutation 'R6140:Wsb1'
| ID |
488546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wsb1
|
| Ensembl Gene |
ENSMUSG00000017677 |
| Gene Name |
WD repeat and SOCS box-containing 1 |
| Synonyms |
2700038M07Rik, 1110056B13Rik |
| MMRRC Submission |
044287-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R6140 (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 79132444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 325
(H325Q)
|
| 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: H325Q
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000017821
Gene: ENSMUSG00000017677
AA Change: H325Q
| 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 |
0.1472 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 96.9%
- 20x: 91.8%
|
| Validation Efficiency |
100% (46/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
T |
C |
12: 17,055,923 (GRCm39) |
|
probably benign |
Het |
| Adgra2 |
A |
T |
8: 27,605,433 (GRCm39) |
R593W |
probably damaging |
Het |
| Agfg2 |
T |
C |
5: 137,665,347 (GRCm39) |
Q136R |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,241,036 (GRCm39) |
|
probably null |
Het |
| Baz2b |
T |
C |
2: 59,742,871 (GRCm39) |
D1643G |
probably damaging |
Het |
| Ccdc171 |
C |
T |
4: 83,614,554 (GRCm39) |
Q1060* |
probably null |
Het |
| Cela1 |
C |
T |
15: 100,579,037 (GRCm39) |
R207H |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,660,133 (GRCm39) |
V664A |
probably damaging |
Het |
| Clic6 |
A |
G |
16: 92,336,380 (GRCm39) |
R563G |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,804,508 (GRCm39) |
H1773L |
probably benign |
Het |
| Ddrgk1 |
A |
G |
2: 130,500,534 (GRCm39) |
V204A |
probably benign |
Het |
| Dhrs7c |
A |
T |
11: 67,705,900 (GRCm39) |
T218S |
probably damaging |
Het |
| Dlgap4 |
A |
T |
2: 156,604,649 (GRCm39) |
|
probably null |
Het |
| Hgd |
A |
T |
16: 37,410,075 (GRCm39) |
Y37F |
probably benign |
Het |
| Hmcn1 |
A |
C |
1: 150,608,597 (GRCm39) |
N1528K |
probably damaging |
Het |
| Hps3 |
A |
G |
3: 20,051,151 (GRCm39) |
F843S |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,431,804 (GRCm39) |
F800S |
possibly damaging |
Het |
| Igsf21 |
T |
A |
4: 139,834,684 (GRCm39) |
T63S |
probably benign |
Het |
| Il18rap |
T |
G |
1: 40,564,212 (GRCm39) |
M110R |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 188,942,104 (GRCm39) |
H384Q |
probably damaging |
Het |
| Lima1 |
C |
T |
15: 99,678,939 (GRCm39) |
V341M |
probably damaging |
Het |
| Lins1 |
T |
C |
7: 66,361,672 (GRCm39) |
L441P |
probably damaging |
Het |
| Lss |
T |
C |
10: 76,386,522 (GRCm39) |
Y642H |
probably damaging |
Het |
| Mrc2 |
A |
G |
11: 105,237,615 (GRCm39) |
T1098A |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,364,146 (GRCm39) |
|
probably null |
Het |
| Nrdc |
G |
T |
4: 108,906,308 (GRCm39) |
A730S |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,941,808 (GRCm39) |
T72I |
possibly damaging |
Het |
| Or6c213 |
T |
G |
10: 129,574,523 (GRCm39) |
K88Q |
possibly damaging |
Het |
| Or8g33 |
A |
G |
9: 39,337,543 (GRCm39) |
S275P |
possibly damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,448 (GRCm39) |
C241* |
probably null |
Het |
| Oxt |
A |
G |
2: 130,418,191 (GRCm39) |
Y21C |
probably damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,257,263 (GRCm39) |
|
probably benign |
Het |
| Ralgapb |
T |
C |
2: 158,298,492 (GRCm39) |
V907A |
probably damaging |
Het |
| Rnls |
A |
T |
19: 33,115,600 (GRCm39) |
D157E |
probably damaging |
Het |
| Slc7a14 |
C |
A |
3: 31,291,697 (GRCm39) |
V194L |
probably benign |
Het |
| Slc7a7 |
G |
A |
14: 54,616,515 (GRCm39) |
T189I |
probably damaging |
Het |
| Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
| Ssh1 |
A |
G |
5: 114,080,692 (GRCm39) |
Y891H |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,546,702 (GRCm39) |
D258G |
probably damaging |
Het |
| Tpk1 |
A |
T |
6: 43,400,635 (GRCm39) |
M129K |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,803,673 (GRCm39) |
I1088V |
probably benign |
Het |
| Vmn1r3 |
A |
G |
4: 3,185,031 (GRCm39) |
I92T |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,060,657 (GRCm39) |
S309F |
probably damaging |
Het |
| Zfp263 |
A |
G |
16: 3,566,081 (GRCm39) |
S281G |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,493,613 (GRCm39) |
S477P |
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 |
|
|
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'- AACACCTTCCAAAGTGTTGTCTAG -3'
(R):5'- ATTCAGAGGCCAGTGAACTCG -3'
Sequencing Primer
(F):5'- ATTCTCAGCATTCAGGAGGC -3'
(R):5'- AACTCGGTACCAGGGCTATTTTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation