Incidental Mutation 'R6386:Wbp11'
| ID |
515602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wbp11
|
| Ensembl Gene |
ENSMUSG00000030216 |
| Gene Name |
WW domain binding protein 11 |
| Synonyms |
D6Wsu113e, SIPP1, 2510026P17Rik, Npwbp |
| MMRRC Submission |
044535-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R6386 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
136790652-136805214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 136797523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 299
(T299A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112213
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116514]
[ENSMUST00000146348]
[ENSMUST00000204272]
|
| AlphaFold |
Q923D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116514
AA Change: T299A
PolyPhen 2
Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112213
Gene: ENSMUSG00000030216
AA Change: T299A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Wbp11
|
12 |
94 |
1e-26 |
PFAM |
|
low complexity region
|
191 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
263 |
284 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
549 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129078
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146348
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151333
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204129
|
| Predicted Effect |
silent
Transcript: ENSMUST00000204272
|
| SMART Domains |
Protein: ENSMUSP00000145501
Gene: ENSMUSG00000030216
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Wbp11
|
12 |
94 |
3.8e-24 |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein, which colocalizes with mRNA splicing factors and intermediate filament-containing perinuclear networks. This protein has 95% amino acid sequence identity to the mouse Wbp11 protein. It contains two proline-rich regions that bind to the WW domain of Npw38, a nuclear protein, and thus this protein is also called Npw38-binding protein NpwBP. The Npw38-NpwBP complex may function as a component of an mRNA factory in the nucleus. [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 |
|---|
| Ak6 |
TGACGA |
TGA |
13: 100,792,311 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,761,865 (GRCm39) |
N1620K |
possibly damaging |
Het |
| Atf6b |
T |
C |
17: 34,870,825 (GRCm39) |
S396P |
probably damaging |
Het |
| Cc2d1a |
A |
G |
8: 84,865,166 (GRCm39) |
M469T |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,892,144 (GRCm39) |
N296D |
probably benign |
Het |
| Cep57l1 |
A |
T |
10: 41,619,128 (GRCm39) |
S80T |
probably damaging |
Het |
| Clip4 |
C |
A |
17: 72,141,189 (GRCm39) |
Y514* |
probably null |
Het |
| Cop1 |
T |
C |
1: 159,116,601 (GRCm39) |
I125T |
probably damaging |
Het |
| Cstf1 |
T |
C |
2: 172,219,816 (GRCm39) |
V309A |
probably damaging |
Het |
| Cyp4a29 |
T |
G |
4: 115,104,272 (GRCm39) |
|
probably null |
Het |
| F830045P16Rik |
G |
A |
2: 129,314,738 (GRCm39) |
H180Y |
probably damaging |
Het |
| Foxp4 |
T |
C |
17: 48,189,387 (GRCm39) |
K237E |
unknown |
Het |
| Fstl5 |
A |
T |
3: 76,229,373 (GRCm39) |
H58L |
probably benign |
Het |
| Gje1 |
A |
G |
10: 14,592,365 (GRCm39) |
F139S |
probably damaging |
Het |
| Gpatch1 |
T |
C |
7: 34,991,265 (GRCm39) |
D593G |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
| Mtch2 |
A |
G |
2: 90,679,739 (GRCm39) |
T38A |
probably benign |
Het |
| Mvb12b |
A |
T |
2: 33,717,754 (GRCm39) |
I129N |
probably damaging |
Het |
| Npffr2 |
T |
C |
5: 89,730,556 (GRCm39) |
V162A |
probably benign |
Het |
| Or4d10b |
A |
T |
19: 12,036,920 (GRCm39) |
N65K |
probably damaging |
Het |
| Or5p61 |
A |
T |
7: 107,758,409 (GRCm39) |
Y224N |
probably damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,621,244 (GRCm39) |
R805C |
probably damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,559,364 (GRCm39) |
L406P |
probably damaging |
Het |
| Prl3d2 |
A |
G |
13: 27,311,286 (GRCm39) |
D186G |
probably damaging |
Het |
| Rfc5 |
T |
C |
5: 117,523,463 (GRCm39) |
T112A |
probably benign |
Het |
| Rnf148 |
A |
G |
6: 23,654,483 (GRCm39) |
L171P |
probably damaging |
Het |
| Rps24 |
G |
A |
14: 24,542,116 (GRCm39) |
G71S |
possibly damaging |
Het |
| Slco2a1 |
G |
A |
9: 102,954,187 (GRCm39) |
V453I |
probably benign |
Het |
| Spidr |
T |
C |
16: 15,786,424 (GRCm39) |
K440E |
probably benign |
Het |
| Syndig1 |
C |
A |
2: 149,741,496 (GRCm39) |
N27K |
probably damaging |
Het |
| Tmem62 |
C |
T |
2: 120,829,595 (GRCm39) |
T316I |
probably benign |
Het |
| Tpgs2 |
A |
T |
18: 25,272,081 (GRCm39) |
I258N |
possibly damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,571,545 (GRCm39) |
R452* |
probably null |
Het |
| Wasf3 |
A |
T |
5: 146,390,227 (GRCm39) |
I124F |
possibly damaging |
Het |
| Wdr25 |
T |
C |
12: 108,990,991 (GRCm39) |
S41P |
probably damaging |
Het |
| Zfp874b |
T |
C |
13: 67,622,962 (GRCm39) |
D116G |
possibly damaging |
Het |
|
| Other mutations in Wbp11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Wbp11
|
APN |
6 |
136,798,668 (GRCm39) |
intron |
probably benign |
|
|
IGL01408:Wbp11
|
APN |
6 |
136,791,612 (GRCm39) |
unclassified |
probably benign |
|
|
R0639:Wbp11
|
UTSW |
6 |
136,793,108 (GRCm39) |
unclassified |
probably benign |
|
|
R0685:Wbp11
|
UTSW |
6 |
136,791,636 (GRCm39) |
unclassified |
probably benign |
|
|
R1264:Wbp11
|
UTSW |
6 |
136,791,513 (GRCm39) |
unclassified |
probably benign |
|
|
R1987:Wbp11
|
UTSW |
6 |
136,797,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2362:Wbp11
|
UTSW |
6 |
136,801,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Wbp11
|
UTSW |
6 |
136,798,189 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5682:Wbp11
|
UTSW |
6 |
136,791,252 (GRCm39) |
unclassified |
probably benign |
|
|
R6045:Wbp11
|
UTSW |
6 |
136,798,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6567:Wbp11
|
UTSW |
6 |
136,797,537 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7132:Wbp11
|
UTSW |
6 |
136,798,540 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8679:Wbp11
|
UTSW |
6 |
136,799,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9093:Wbp11
|
UTSW |
6 |
136,803,044 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9420:Wbp11
|
UTSW |
6 |
136,791,259 (GRCm39) |
missense |
unknown |
|
|
R9794:Wbp11
|
UTSW |
6 |
136,795,021 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATCGGGAAAACCAACTG -3'
(R):5'- TTGGATACCAGAGGGCCAAC -3'
Sequencing Primer
(F):5'- GGGACTGCCACATAGATGCTCTAG -3'
(R):5'- AACCGTGTCATGTGACTCTCGTG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation