Incidental Mutation 'IGL00324:Wbp11'
| ID |
5358 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wbp11
|
| Ensembl Gene |
ENSMUSG00000030216 |
| Gene Name |
WW domain binding protein 11 |
| Synonyms |
D6Wsu113e, SIPP1, 2510026P17Rik, Npwbp |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
IGL00324
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
136790652-136805214 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 136798668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000116514]
[ENSMUST00000146348]
[ENSMUST00000204272]
|
| AlphaFold |
Q923D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116514
|
| SMART Domains |
Protein: ENSMUSP00000112213
Gene: ENSMUSG00000030216
| 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 |
probably benign
Transcript: ENSMUST00000204272
|
| SMART Domains |
Protein: ENSMUSP00000145501
Gene: ENSMUSG00000030216
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Wbp11
|
12 |
94 |
3.8e-24 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
T |
C |
3: 121,570,642 (GRCm39) |
|
probably benign |
Het |
| Cdk12 |
T |
A |
11: 98,136,214 (GRCm39) |
L1156Q |
unknown |
Het |
| Ctsl |
T |
C |
13: 64,515,982 (GRCm39) |
Y66C |
probably damaging |
Het |
| Esd |
C |
T |
14: 74,973,467 (GRCm39) |
H21Y |
probably damaging |
Het |
| Fcrlb |
A |
C |
1: 170,736,393 (GRCm39) |
Y128D |
possibly damaging |
Het |
| Gm17027 |
A |
T |
14: 41,981,267 (GRCm39) |
N196K |
unknown |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Hpcal1 |
A |
G |
12: 17,841,146 (GRCm39) |
S175G |
probably benign |
Het |
| Itgam |
A |
T |
7: 127,684,833 (GRCm39) |
D401V |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,389,122 (GRCm39) |
T932A |
probably benign |
Het |
| Lmod1 |
A |
G |
1: 135,292,216 (GRCm39) |
K357R |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,599,186 (GRCm39) |
I3271V |
probably benign |
Het |
| Nlrc5 |
A |
G |
8: 95,248,107 (GRCm39) |
K1692E |
probably damaging |
Het |
| Ocln |
A |
G |
13: 100,671,521 (GRCm39) |
W279R |
probably damaging |
Het |
| Or4p20 |
T |
C |
2: 88,254,130 (GRCm39) |
I80V |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,206 (GRCm39) |
K677R |
probably benign |
Het |
| Pitrm1 |
T |
A |
13: 6,618,702 (GRCm39) |
L586Q |
probably damaging |
Het |
| Plppr3 |
G |
A |
10: 79,702,503 (GRCm39) |
S217L |
probably damaging |
Het |
| Pnldc1 |
A |
T |
17: 13,124,645 (GRCm39) |
|
probably benign |
Het |
| Pramel12 |
T |
A |
4: 143,143,237 (GRCm39) |
M1K |
probably null |
Het |
| Pramel13 |
A |
G |
4: 144,121,310 (GRCm39) |
L238P |
possibly damaging |
Het |
| Sema6b |
C |
T |
17: 56,437,048 (GRCm39) |
D204N |
probably damaging |
Het |
| Slc12a5 |
A |
G |
2: 164,839,041 (GRCm39) |
N1063S |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,565,273 (GRCm39) |
V1205A |
probably benign |
Het |
| Tmem260 |
T |
C |
14: 48,724,336 (GRCm39) |
F205L |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,956,337 (GRCm39) |
|
probably benign |
Het |
| Tsen34 |
A |
G |
7: 3,703,530 (GRCm39) |
*296W |
probably null |
Het |
| Ubr2 |
A |
G |
17: 47,296,986 (GRCm39) |
|
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,706,684 (GRCm39) |
W505R |
possibly damaging |
Het |
| Znfx1 |
A |
T |
2: 166,878,649 (GRCm39) |
M1909K |
possibly damaging |
Het |
|
| Other mutations in Wbp11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R6386:Wbp11
|
UTSW |
6 |
136,797,523 (GRCm39) |
missense |
probably benign |
0.36 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation