Incidental Mutation 'R0909:Wbp2nl'
ID |
83441 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wbp2nl
|
Ensembl Gene |
ENSMUSG00000022455 |
Gene Name |
WBP2 N-terminal like |
Synonyms |
PAWP, 4930521I23Rik |
MMRRC Submission |
039067-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0909 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
82183155-82198824 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 82198275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 271
(A271T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023089]
|
AlphaFold |
Q9D529 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023089
AA Change: A271T
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000023089 Gene: ENSMUSG00000022455 AA Change: A271T
Domain | Start | End | E-Value | Type |
Pfam:GRAM
|
4 |
87 |
1e-9 |
PFAM |
Pfam:WWbp
|
103 |
226 |
2e-23 |
PFAM |
low complexity region
|
238 |
262 |
N/A |
INTRINSIC |
low complexity region
|
277 |
288 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 91.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008] PHENOTYPE: Male mice homozygous for a knock-out allele exhibit normal sperm morphology, acrosomal reaction, egg activation and fertility. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
T |
A |
19: 3,765,788 (GRCm39) |
M21K |
probably benign |
Het |
Ap3s2 |
T |
C |
7: 79,530,266 (GRCm39) |
N183S |
probably benign |
Het |
Cd109 |
A |
G |
9: 78,543,755 (GRCm39) |
I100V |
probably benign |
Het |
Cep170b |
A |
G |
12: 112,698,473 (GRCm39) |
K77R |
probably null |
Het |
Chmp5 |
C |
A |
4: 40,960,968 (GRCm39) |
N202K |
probably benign |
Het |
Cnbd1 |
A |
T |
4: 19,122,444 (GRCm39) |
L15I |
probably benign |
Het |
Ehmt2 |
T |
C |
17: 35,125,480 (GRCm39) |
V542A |
possibly damaging |
Het |
Exosc9 |
A |
T |
3: 36,608,853 (GRCm39) |
I151F |
probably damaging |
Het |
Eya2 |
A |
G |
2: 165,596,413 (GRCm39) |
N308S |
probably benign |
Het |
Fbxw21 |
C |
A |
9: 108,985,476 (GRCm39) |
A101S |
possibly damaging |
Het |
Frem3 |
A |
C |
8: 81,390,035 (GRCm39) |
N1762T |
probably benign |
Het |
H2-DMb2 |
C |
A |
17: 34,367,783 (GRCm39) |
T68N |
probably benign |
Het |
Hbs1l |
A |
G |
10: 21,183,637 (GRCm39) |
E126G |
probably benign |
Het |
Lrrc2 |
T |
A |
9: 110,791,741 (GRCm39) |
|
probably null |
Het |
Mrpl44 |
G |
A |
1: 79,757,370 (GRCm39) |
V272I |
probably benign |
Het |
Msh4 |
G |
A |
3: 153,569,141 (GRCm39) |
L723F |
probably benign |
Het |
Nemf |
T |
A |
12: 69,388,384 (GRCm39) |
D329V |
probably damaging |
Het |
Noxa1 |
A |
T |
2: 24,981,806 (GRCm39) |
L99Q |
probably damaging |
Het |
Nr6a1 |
A |
T |
2: 38,775,218 (GRCm39) |
D44E |
probably benign |
Het |
Obscn |
T |
C |
11: 58,965,890 (GRCm39) |
D3131G |
probably damaging |
Het |
Or10a5 |
T |
C |
7: 106,635,401 (GRCm39) |
I13T |
probably benign |
Het |
Or10c1 |
T |
G |
17: 37,521,809 (GRCm39) |
I312L |
probably benign |
Het |
Or52p2 |
A |
T |
7: 102,237,654 (GRCm39) |
C99S |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,402,279 (GRCm39) |
|
probably null |
Het |
Rbsn |
G |
A |
6: 92,166,791 (GRCm39) |
Q618* |
probably null |
Het |
Rccd1 |
A |
C |
7: 79,968,799 (GRCm39) |
|
probably null |
Het |
Scg2 |
T |
A |
1: 79,413,499 (GRCm39) |
Q368L |
possibly damaging |
Het |
Socs5 |
T |
A |
17: 87,441,201 (GRCm39) |
L47Q |
probably benign |
Het |
Ttc16 |
T |
C |
2: 32,652,880 (GRCm39) |
T593A |
probably benign |
Het |
Ube4a |
T |
C |
9: 44,851,271 (GRCm39) |
I748V |
probably damaging |
Het |
Vipas39 |
T |
C |
12: 87,288,105 (GRCm39) |
D435G |
probably benign |
Het |
Vmn2r69 |
C |
T |
7: 85,055,873 (GRCm39) |
G755D |
probably benign |
Het |
Vsnl1 |
A |
G |
12: 11,376,372 (GRCm39) |
F171S |
probably damaging |
Het |
|
Other mutations in Wbp2nl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00654:Wbp2nl
|
APN |
15 |
82,198,411 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01074:Wbp2nl
|
APN |
15 |
82,198,491 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL01295:Wbp2nl
|
APN |
15 |
82,190,619 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01621:Wbp2nl
|
APN |
15 |
82,192,806 (GRCm39) |
missense |
probably benign |
|
IGL01735:Wbp2nl
|
APN |
15 |
82,198,017 (GRCm39) |
missense |
probably benign |
|
IGL01987:Wbp2nl
|
APN |
15 |
82,192,762 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02426:Wbp2nl
|
APN |
15 |
82,190,374 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02900:Wbp2nl
|
APN |
15 |
82,198,035 (GRCm39) |
missense |
probably benign |
|
IGL02971:Wbp2nl
|
APN |
15 |
82,189,945 (GRCm39) |
missense |
possibly damaging |
0.61 |
R0194:Wbp2nl
|
UTSW |
15 |
82,198,483 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0242:Wbp2nl
|
UTSW |
15 |
82,197,988 (GRCm39) |
missense |
probably benign |
|
R0242:Wbp2nl
|
UTSW |
15 |
82,197,988 (GRCm39) |
missense |
probably benign |
|
R1442:Wbp2nl
|
UTSW |
15 |
82,198,407 (GRCm39) |
missense |
probably benign |
|
R1753:Wbp2nl
|
UTSW |
15 |
82,189,945 (GRCm39) |
missense |
probably damaging |
0.97 |
R4085:Wbp2nl
|
UTSW |
15 |
82,192,762 (GRCm39) |
missense |
probably benign |
0.07 |
R4086:Wbp2nl
|
UTSW |
15 |
82,192,762 (GRCm39) |
missense |
probably benign |
0.07 |
R4087:Wbp2nl
|
UTSW |
15 |
82,192,762 (GRCm39) |
missense |
probably benign |
0.07 |
R4726:Wbp2nl
|
UTSW |
15 |
82,190,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R4840:Wbp2nl
|
UTSW |
15 |
82,198,537 (GRCm39) |
missense |
possibly damaging |
0.96 |
R6338:Wbp2nl
|
UTSW |
15 |
82,183,246 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6339:Wbp2nl
|
UTSW |
15 |
82,183,246 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6820:Wbp2nl
|
UTSW |
15 |
82,197,996 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7156:Wbp2nl
|
UTSW |
15 |
82,189,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R7323:Wbp2nl
|
UTSW |
15 |
82,198,542 (GRCm39) |
makesense |
probably null |
|
R7598:Wbp2nl
|
UTSW |
15 |
82,192,762 (GRCm39) |
missense |
probably benign |
0.07 |
R7857:Wbp2nl
|
UTSW |
15 |
82,190,273 (GRCm39) |
missense |
probably benign |
0.24 |
R7903:Wbp2nl
|
UTSW |
15 |
82,190,332 (GRCm39) |
nonsense |
probably null |
|
R9242:Wbp2nl
|
UTSW |
15 |
82,192,748 (GRCm39) |
missense |
probably benign |
0.22 |
R9379:Wbp2nl
|
UTSW |
15 |
82,198,311 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1177:Wbp2nl
|
UTSW |
15 |
82,192,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TACGATGTCCTGCCTCCTGGATAC -3'
(R):5'- TGGTTCCACCCTGTGACTAAACTCC -3'
Sequencing Primer
(F):5'- CCTGGATACGGAGCTGTGAG -3'
(R):5'- GTGATCAGATACCTAAGTGTTCCG -3'
|
Posted On |
2013-11-08 |