Incidental Mutation 'IGL01735:Wbp2nl'
ID |
105652 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Wbp2nl
|
Ensembl Gene |
ENSMUSG00000022455 |
Gene Name |
WBP2 N-terminal like |
Synonyms |
PAWP, 4930521I23Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01735
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
82183155-82198824 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 82198017 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 185
(V185L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023089]
|
AlphaFold |
Q9D529 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023089
AA Change: V185L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000023089 Gene: ENSMUSG00000022455 AA Change: V185L
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 |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy3 |
A |
T |
12: 4,251,213 (GRCm39) |
M612L |
probably benign |
Het |
Adhfe1 |
C |
A |
1: 9,618,373 (GRCm39) |
T19K |
possibly damaging |
Het |
Atxn1 |
C |
T |
13: 45,720,198 (GRCm39) |
V566M |
probably damaging |
Het |
Bag6 |
T |
C |
17: 35,364,737 (GRCm39) |
|
probably benign |
Het |
Cdkl1 |
T |
G |
12: 69,797,514 (GRCm39) |
Y258S |
probably benign |
Het |
Chil6 |
A |
T |
3: 106,296,004 (GRCm39) |
|
probably null |
Het |
Clcn7 |
T |
C |
17: 25,370,090 (GRCm39) |
F326L |
probably benign |
Het |
Cngb3 |
A |
G |
4: 19,415,648 (GRCm39) |
Y386C |
probably damaging |
Het |
Dnah6 |
C |
A |
6: 73,053,643 (GRCm39) |
E2916* |
probably null |
Het |
Dnhd1 |
A |
G |
7: 105,362,961 (GRCm39) |
E3841G |
probably benign |
Het |
Fat1 |
G |
T |
8: 45,489,276 (GRCm39) |
V3493L |
probably benign |
Het |
Irx5 |
A |
T |
8: 93,087,331 (GRCm39) |
H421L |
probably damaging |
Het |
Kbtbd6 |
T |
C |
14: 79,690,889 (GRCm39) |
V465A |
probably damaging |
Het |
Kcp |
T |
A |
6: 29,498,878 (GRCm39) |
N340I |
probably damaging |
Het |
Klhdc2 |
A |
G |
12: 69,347,053 (GRCm39) |
M73V |
probably benign |
Het |
Lpar1 |
A |
G |
4: 58,437,407 (GRCm39) |
S341P |
probably damaging |
Het |
Lrba |
G |
A |
3: 86,234,968 (GRCm39) |
V838I |
probably benign |
Het |
Med12l |
A |
G |
3: 59,170,675 (GRCm39) |
I1652V |
probably damaging |
Het |
Myo5c |
A |
T |
9: 75,208,720 (GRCm39) |
D1677V |
probably damaging |
Het |
Ncoa2 |
A |
T |
1: 13,235,127 (GRCm39) |
N935K |
probably benign |
Het |
Nfrkb |
T |
C |
9: 31,321,435 (GRCm39) |
S711P |
possibly damaging |
Het |
Or1j20 |
C |
A |
2: 36,759,698 (GRCm39) |
T40K |
possibly damaging |
Het |
Or52ae7 |
T |
C |
7: 103,119,530 (GRCm39) |
F95L |
probably damaging |
Het |
Or5w16 |
A |
G |
2: 87,576,650 (GRCm39) |
I37V |
probably benign |
Het |
Pramel27 |
A |
G |
4: 143,578,401 (GRCm39) |
I220M |
probably damaging |
Het |
Prl7d1 |
A |
G |
13: 27,898,372 (GRCm39) |
F47L |
possibly damaging |
Het |
Ptprd |
A |
C |
4: 76,055,057 (GRCm39) |
|
probably null |
Het |
Rsph14 |
C |
A |
10: 74,860,992 (GRCm39) |
G103C |
probably damaging |
Het |
Slco1a4 |
A |
G |
6: 141,763,477 (GRCm39) |
F413S |
probably benign |
Het |
Slfn9 |
A |
G |
11: 82,873,158 (GRCm39) |
Y582H |
probably damaging |
Het |
Tcirg1 |
A |
T |
19: 3,954,210 (GRCm39) |
|
probably benign |
Het |
Trac |
G |
A |
14: 54,460,438 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R0909:Wbp2nl
|
UTSW |
15 |
82,198,275 (GRCm39) |
missense |
probably benign |
0.41 |
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 |
|
Posted On |
2014-01-21 |