Incidental Mutation 'IGL01074:Wbp2nl'
| ID |
52773 |
| 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 # |
IGL01074
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
82183155-82198824 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82198491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 343
(S343P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023089]
|
| AlphaFold |
Q9D529 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023089
AA Change: S343P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000023089
Gene: ENSMUSG00000022455
AA Change: S343P
| 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 |
|---|
| Abca7 |
A |
G |
10: 79,849,726 (GRCm39) |
D1934G |
possibly damaging |
Het |
| Adcy2 |
A |
T |
13: 68,944,773 (GRCm39) |
I203N |
possibly damaging |
Het |
| Asxl3 |
T |
C |
18: 22,655,902 (GRCm39) |
V1304A |
probably damaging |
Het |
| Bltp3a |
A |
G |
17: 28,098,265 (GRCm39) |
I136V |
possibly damaging |
Het |
| Cmah |
A |
G |
13: 24,648,238 (GRCm39) |
D491G |
possibly damaging |
Het |
| Cobll1 |
A |
G |
2: 64,938,192 (GRCm39) |
S364P |
probably damaging |
Het |
| Cspg4 |
T |
C |
9: 56,806,149 (GRCm39) |
L2320P |
probably damaging |
Het |
| Defa5 |
T |
A |
8: 21,787,592 (GRCm39) |
F46L |
possibly damaging |
Het |
| Erich6b |
T |
A |
14: 75,896,208 (GRCm39) |
N31K |
probably benign |
Het |
| Fcrl6 |
C |
T |
1: 172,426,680 (GRCm39) |
V89M |
possibly damaging |
Het |
| Gm5458 |
G |
T |
14: 19,649,760 (GRCm39) |
L155I |
probably damaging |
Het |
| Hlx |
T |
C |
1: 184,460,010 (GRCm39) |
D376G |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,502,784 (GRCm39) |
S3948P |
possibly damaging |
Het |
| Igf2bp2 |
G |
A |
16: 21,882,454 (GRCm39) |
R416W |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,974,484 (GRCm39) |
|
probably null |
Het |
| Lingo4 |
T |
C |
3: 94,310,595 (GRCm39) |
V511A |
probably benign |
Het |
| Mllt3 |
C |
A |
4: 87,710,118 (GRCm39) |
V29L |
probably benign |
Het |
| Mmp16 |
T |
C |
4: 18,110,584 (GRCm39) |
|
probably benign |
Het |
| Moxd1 |
A |
G |
10: 24,155,282 (GRCm39) |
R228G |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,615,490 (GRCm39) |
N802S |
possibly damaging |
Het |
| Nmu |
C |
A |
5: 76,491,774 (GRCm39) |
V121F |
probably damaging |
Het |
| Npepps |
T |
C |
11: 97,108,637 (GRCm39) |
T760A |
probably damaging |
Het |
| Ogfod1 |
G |
T |
8: 94,789,634 (GRCm39) |
W445L |
probably damaging |
Het |
| Oplah |
G |
A |
15: 76,189,948 (GRCm39) |
P222S |
probably damaging |
Het |
| Or4c116 |
T |
C |
2: 88,942,023 (GRCm39) |
T278A |
probably benign |
Het |
| Slc4a4 |
T |
A |
5: 89,327,633 (GRCm39) |
L699H |
probably damaging |
Het |
| Sod3 |
C |
T |
5: 52,525,540 (GRCm39) |
Q80* |
probably null |
Het |
| Syne2 |
C |
T |
12: 76,078,361 (GRCm39) |
Q4732* |
probably null |
Het |
| Syne2 |
T |
C |
12: 76,033,785 (GRCm39) |
I3678T |
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tmem220 |
T |
C |
11: 66,922,999 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,874,674 (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 |
|
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 |
2013-06-21 |
Incidental Mutation