Incidental Mutation 'IGL00654:Wbp2nl'
ID |
14830 |
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 # |
IGL00654
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
82183155-82198824 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82198411 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 316
(V316A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023089]
|
AlphaFold |
Q9D529 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023089
AA Change: V316A
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000023089 Gene: ENSMUSG00000022455 AA Change: V316A
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam28 |
T |
C |
14: 68,886,877 (GRCm39) |
T46A |
probably benign |
Het |
Cmya5 |
G |
A |
13: 93,230,669 (GRCm39) |
S1473L |
probably benign |
Het |
Crygd |
C |
T |
1: 65,101,250 (GRCm39) |
R115Q |
probably benign |
Het |
Dcbld1 |
A |
C |
10: 52,188,945 (GRCm39) |
I186L |
probably benign |
Het |
Dgkh |
A |
C |
14: 78,847,033 (GRCm39) |
M367R |
possibly damaging |
Het |
Myb |
T |
C |
10: 21,017,725 (GRCm39) |
D622G |
probably damaging |
Het |
Nbeal1 |
A |
G |
1: 60,234,170 (GRCm39) |
|
probably benign |
Het |
Nlrp14 |
G |
T |
7: 106,795,351 (GRCm39) |
L211F |
probably damaging |
Het |
Pbrm1 |
T |
A |
14: 30,754,361 (GRCm39) |
|
probably benign |
Het |
Pcdhb13 |
A |
T |
18: 37,576,774 (GRCm39) |
D384V |
possibly damaging |
Het |
Ppl |
T |
C |
16: 4,905,172 (GRCm39) |
I1708V |
possibly damaging |
Het |
Prdx1 |
G |
A |
4: 116,550,162 (GRCm39) |
D115N |
probably benign |
Het |
Prdx1 |
C |
T |
4: 116,550,147 (GRCm39) |
R110C |
probably benign |
Het |
Prep |
C |
T |
10: 44,991,269 (GRCm39) |
R312W |
probably damaging |
Het |
Rpap2 |
A |
T |
5: 107,751,497 (GRCm39) |
|
probably benign |
Het |
Rubcn |
A |
T |
16: 32,644,747 (GRCm39) |
|
probably null |
Het |
Sumf2 |
G |
T |
5: 129,882,918 (GRCm39) |
|
probably benign |
Het |
Tek |
A |
G |
4: 94,715,538 (GRCm39) |
T359A |
probably benign |
Het |
Thrap3 |
C |
T |
4: 126,059,371 (GRCm39) |
G892S |
probably benign |
Het |
Tlr12 |
C |
T |
4: 128,511,233 (GRCm39) |
G339E |
probably benign |
Het |
Usp39 |
A |
G |
6: 72,305,607 (GRCm39) |
L392P |
probably damaging |
Het |
|
Other mutations in Wbp2nl |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2012-12-06 |