Incidental Mutation 'R1264:Wbp11'
ID |
151108 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wbp11
|
Ensembl Gene |
ENSMUSG00000030216 |
Gene Name |
WW domain binding protein 11 |
Synonyms |
D6Wsu113e, SIPP1, 2510026P17Rik, Npwbp |
MMRRC Submission |
039331-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R1264 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
136790652-136805214 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 136791513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145501
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074556]
[ENSMUST00000116514]
[ENSMUST00000203982]
[ENSMUST00000204272]
|
AlphaFold |
Q923D5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074556
|
SMART Domains |
Protein: ENSMUSP00000074142 Gene: ENSMUSG00000060032
Domain | Start | End | E-Value | Type |
H2A
|
3 |
123 |
2.32e-81 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000116514
AA Change: L540P
|
SMART Domains |
Protein: ENSMUSP00000112213 Gene: ENSMUSG00000030216 AA Change: L540P
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 |
probably benign
Transcript: ENSMUST00000203982
|
SMART Domains |
Protein: ENSMUSP00000144974 Gene: ENSMUSG00000060032
Domain | Start | End | E-Value | Type |
H2A
|
3 |
123 |
9.8e-84 |
SMART |
|
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 |
|
Meta Mutation Damage Score |
0.1142 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
100% (35/35) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
C |
6: 142,592,103 (GRCm39) |
|
probably benign |
Het |
Acadl |
A |
T |
1: 66,896,712 (GRCm39) |
C27S |
probably benign |
Het |
Adgrb3 |
C |
T |
1: 25,598,931 (GRCm39) |
G258E |
probably damaging |
Het |
Akna |
T |
C |
4: 63,299,962 (GRCm39) |
|
probably null |
Het |
Angpt2 |
T |
C |
8: 18,791,233 (GRCm39) |
N21S |
probably benign |
Het |
Ano6 |
A |
G |
15: 95,847,447 (GRCm39) |
Y585C |
probably damaging |
Het |
Ascc3 |
A |
T |
10: 50,518,615 (GRCm39) |
|
probably benign |
Het |
Clec10a |
T |
A |
11: 70,060,567 (GRCm39) |
S103T |
possibly damaging |
Het |
Clstn2 |
T |
C |
9: 97,339,662 (GRCm39) |
R770G |
probably benign |
Het |
Cndp2 |
C |
A |
18: 84,696,916 (GRCm39) |
C95F |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,527,371 (GRCm39) |
V2653A |
probably benign |
Het |
Col4a3 |
A |
T |
1: 82,621,022 (GRCm39) |
|
probably benign |
Het |
Daam1 |
A |
G |
12: 72,022,085 (GRCm39) |
|
probably benign |
Het |
H2-M9 |
A |
G |
17: 36,953,484 (GRCm39) |
V18A |
probably benign |
Het |
Heatr1 |
T |
A |
13: 12,439,491 (GRCm39) |
|
probably benign |
Het |
Impg1 |
T |
C |
9: 80,221,675 (GRCm39) |
D715G |
probably benign |
Het |
Incenp |
T |
C |
19: 9,861,379 (GRCm39) |
K425E |
unknown |
Het |
Kif13b |
T |
C |
14: 65,013,681 (GRCm39) |
|
probably benign |
Het |
Msh2 |
T |
A |
17: 88,014,607 (GRCm39) |
|
probably null |
Het |
Myh2 |
A |
G |
11: 67,071,604 (GRCm39) |
N474D |
probably damaging |
Het |
Myo18b |
T |
C |
5: 112,978,185 (GRCm39) |
T1246A |
probably benign |
Het |
Nob1 |
T |
C |
8: 108,148,136 (GRCm39) |
H102R |
probably damaging |
Het |
Or4z4 |
G |
T |
19: 12,076,198 (GRCm39) |
D268E |
probably benign |
Het |
Pard3b |
A |
T |
1: 62,203,316 (GRCm39) |
I415F |
probably damaging |
Het |
Pfkl |
T |
G |
10: 77,829,250 (GRCm39) |
K386T |
possibly damaging |
Het |
Plekhs1 |
T |
C |
19: 56,474,195 (GRCm39) |
V447A |
probably benign |
Het |
Poli |
C |
T |
18: 70,650,574 (GRCm39) |
V266I |
probably benign |
Het |
Rapgef4 |
A |
T |
2: 71,861,449 (GRCm39) |
K46N |
possibly damaging |
Het |
Shisa6 |
T |
C |
11: 66,265,975 (GRCm39) |
|
probably benign |
Het |
Six3 |
T |
A |
17: 85,929,285 (GRCm39) |
D206E |
probably damaging |
Het |
Slc12a1 |
A |
T |
2: 125,060,158 (GRCm39) |
E944D |
possibly damaging |
Het |
Sptb |
A |
G |
12: 76,659,381 (GRCm39) |
F1173S |
probably damaging |
Het |
Tfdp1 |
C |
A |
8: 13,423,837 (GRCm39) |
|
probably benign |
Het |
Trrap |
A |
G |
5: 144,726,409 (GRCm39) |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGTACTCTGAACAGAAGCCTGTCC -3'
(R):5'- GTGGCAGTTAAATGTCGCCAATTCTTG -3'
Sequencing Primer
(F):5'- GTTTGTACTGAGACAGCAACTG -3'
(R):5'- AAATGTCGCCAATTCTTGTACTC -3'
|
Posted On |
2014-01-29 |