Incidental Mutation 'R6567:Wbp11'
| ID |
522737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wbp11
|
| Ensembl Gene |
ENSMUSG00000030216 |
| Gene Name |
WW domain binding protein 11 |
| Synonyms |
D6Wsu113e, SIPP1, 2510026P17Rik, Npwbp |
| MMRRC Submission |
044691-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R6567 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
136790652-136805214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 136797537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 294
(S294N)
|
| 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: S294N
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000112213
Gene: ENSMUSG00000030216
AA Change: S294N
| 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 |
unknown
Transcript: ENSMUST00000204272
AA Change: V183M
|
| SMART Domains |
Protein: ENSMUSP00000145501
Gene: ENSMUSG00000030216
AA Change: V183M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Wbp11
|
12 |
94 |
3.8e-24 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (32/32) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,950 (GRCm39) |
T546A |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,986,170 (GRCm39) |
V2485L |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 142,976,974 (GRCm39) |
I722M |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,638,100 (GRCm39) |
I54T |
possibly damaging |
Het |
| Dennd2c |
C |
T |
3: 103,039,335 (GRCm39) |
A161V |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,992,246 (GRCm39) |
Y331H |
probably damaging |
Het |
| Dnaaf11 |
C |
T |
15: 66,310,228 (GRCm39) |
V347I |
probably benign |
Het |
| Dnajc2 |
G |
A |
5: 21,971,676 (GRCm39) |
R247W |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,773,946 (GRCm39) |
T380A |
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,576,508 (GRCm39) |
V1044A |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,117,487 (GRCm39) |
H745R |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 191,959,412 (GRCm39) |
M322K |
probably benign |
Het |
| Mmp19 |
A |
G |
10: 128,632,275 (GRCm39) |
T191A |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,938,206 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
G |
T |
10: 29,023,279 (GRCm39) |
V209F |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,978,300 (GRCm39) |
I833T |
possibly damaging |
Het |
| Nif3l1 |
T |
A |
1: 58,494,789 (GRCm39) |
C253S |
probably benign |
Het |
| Or52e2 |
A |
T |
7: 102,804,135 (GRCm39) |
I273K |
possibly damaging |
Het |
| Pate5 |
T |
A |
9: 35,750,411 (GRCm39) |
Y87F |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,278,189 (GRCm39) |
I584N |
probably damaging |
Het |
| Pms2 |
T |
C |
5: 143,865,786 (GRCm39) |
V50A |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,786,838 (GRCm39) |
I1268V |
probably benign |
Het |
| Scap |
C |
T |
9: 110,212,630 (GRCm39) |
R1021W |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,740,932 (GRCm39) |
Y618N |
probably damaging |
Het |
| Tesk2 |
C |
T |
4: 116,649,361 (GRCm39) |
A157V |
probably damaging |
Het |
| Tm6sf2 |
C |
A |
8: 70,528,174 (GRCm39) |
H108N |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,176,589 (GRCm39) |
V287A |
probably benign |
Het |
| Tsks |
A |
T |
7: 44,603,305 (GRCm39) |
Q369L |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,514,673 (GRCm39) |
T99A |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,628 (GRCm39) |
Y1104C |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,287,150 (GRCm39) |
S234T |
probably benign |
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 |
|
R6386:Wbp11
|
UTSW |
6 |
136,797,523 (GRCm39) |
missense |
probably benign |
0.36 |
|
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'- TCGGGAAAACCAACTGGGAC -3'
(R):5'- TTTGGATACCAGAGGGCCAAC -3'
Sequencing Primer
(F):5'- GGACTGCCACATAGATGCTCTAG -3'
(R):5'- AACCGTGTCATGTGACTCTCGTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation