Incidental Mutation 'IGL01987:Wbp2nl'
ID |
181943 |
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 # |
IGL01987
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
82183155-82198824 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 82192762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 149
(M149L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023089]
|
AlphaFold |
Q9D529 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023089
AA Change: M149L
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000023089 Gene: ENSMUSG00000022455 AA Change: M149L
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,565,202 (GRCm39) |
F77L |
probably benign |
Het |
Abca8a |
A |
G |
11: 109,964,981 (GRCm39) |
F439L |
possibly damaging |
Het |
Abcb5 |
A |
T |
12: 118,891,093 (GRCm39) |
V468D |
probably damaging |
Het |
Adgrb3 |
A |
T |
1: 25,140,512 (GRCm39) |
|
probably null |
Het |
Ajm1 |
T |
C |
2: 25,467,970 (GRCm39) |
E647G |
possibly damaging |
Het |
Ankrd28 |
T |
C |
14: 31,500,931 (GRCm39) |
D50G |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,587,579 (GRCm39) |
|
probably null |
Het |
Capn9 |
A |
G |
8: 125,302,965 (GRCm39) |
S28G |
probably benign |
Het |
Cdk5rap2 |
A |
G |
4: 70,220,319 (GRCm39) |
|
probably null |
Het |
Dmtf1l |
C |
T |
X: 125,722,098 (GRCm39) |
E336K |
possibly damaging |
Het |
E2f5 |
T |
C |
3: 14,652,363 (GRCm39) |
|
probably benign |
Het |
Fam135b |
A |
G |
15: 71,333,964 (GRCm39) |
Y1077H |
probably benign |
Het |
Fap |
A |
G |
2: 62,359,020 (GRCm39) |
Y428H |
probably damaging |
Het |
Fasn |
A |
G |
11: 120,708,899 (GRCm39) |
S595P |
probably damaging |
Het |
Flnb |
T |
C |
14: 7,922,748 (GRCm38) |
|
probably null |
Het |
Fzd3 |
A |
T |
14: 65,477,347 (GRCm39) |
V69E |
probably damaging |
Het |
Gcdh |
A |
T |
8: 85,620,110 (GRCm39) |
|
probably benign |
Het |
Ido1 |
A |
G |
8: 25,083,159 (GRCm39) |
Y89H |
probably benign |
Het |
Itga2 |
G |
A |
13: 114,984,482 (GRCm39) |
Q1010* |
probably null |
Het |
Man1a2 |
T |
C |
3: 100,551,873 (GRCm39) |
Y280C |
probably damaging |
Het |
Mgat4d |
T |
C |
8: 84,094,731 (GRCm39) |
I256T |
probably damaging |
Het |
Mmrn1 |
A |
G |
6: 60,921,557 (GRCm39) |
K5E |
probably benign |
Het |
Ncapd2 |
A |
G |
6: 125,162,804 (GRCm39) |
|
probably benign |
Het |
Or2at4 |
A |
T |
7: 99,384,478 (GRCm39) |
I43F |
probably damaging |
Het |
Or7g18 |
A |
T |
9: 18,787,003 (GRCm39) |
I127L |
probably benign |
Het |
Pcnx3 |
T |
C |
19: 5,727,507 (GRCm39) |
D644G |
probably damaging |
Het |
Pole |
T |
C |
5: 110,485,098 (GRCm39) |
V2280A |
probably benign |
Het |
Ptprf |
T |
A |
4: 118,134,567 (GRCm39) |
M24L |
probably benign |
Het |
Sbno1 |
T |
C |
5: 124,542,282 (GRCm39) |
N337S |
probably damaging |
Het |
Serpinc1 |
T |
A |
1: 160,820,977 (GRCm39) |
F141L |
probably damaging |
Het |
Shroom3 |
C |
A |
5: 93,090,048 (GRCm39) |
R933S |
probably damaging |
Het |
Slc24a2 |
G |
A |
4: 87,146,033 (GRCm39) |
P7L |
probably benign |
Het |
Slc25a32 |
G |
A |
15: 38,961,002 (GRCm39) |
T227I |
probably damaging |
Het |
Slc7a1 |
A |
G |
5: 148,274,002 (GRCm39) |
F396L |
possibly damaging |
Het |
Smok2a |
G |
A |
17: 13,445,377 (GRCm39) |
R318H |
probably benign |
Het |
Sntg2 |
A |
G |
12: 30,362,569 (GRCm39) |
V59A |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,454,558 (GRCm39) |
|
probably null |
Het |
Tnfrsf1a |
G |
A |
6: 125,333,827 (GRCm39) |
V27I |
probably damaging |
Het |
Tnpo3 |
T |
C |
6: 29,560,200 (GRCm39) |
T648A |
probably benign |
Het |
Tpbg |
A |
G |
9: 85,727,252 (GRCm39) |
Y407C |
probably damaging |
Het |
Yif1a |
T |
A |
19: 5,141,625 (GRCm39) |
M181K |
probably benign |
Het |
Zkscan8 |
A |
G |
13: 21,710,729 (GRCm39) |
L127S |
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 |
|
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 |
2014-05-07 |