Incidental Mutation 'IGL01960:Wwp1'
| ID |
182399 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wwp1
|
| Ensembl Gene |
ENSMUSG00000041058 |
| Gene Name |
WW domain containing E3 ubiquitin protein ligase 1 |
| Synonyms |
AIP5, 8030445B08Rik, SDRP1, Tiul1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01960
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
19608303-19708993 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 19662115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035982]
[ENSMUST00000108246]
|
| AlphaFold |
Q8BZZ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035982
|
| SMART Domains |
Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
19 |
113 |
4.19e-9 |
SMART |
|
low complexity region
|
221 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
286 |
N/A |
INTRINSIC |
|
WW
|
346 |
378 |
1.03e-14 |
SMART |
|
WW
|
379 |
410 |
7.43e-12 |
SMART |
|
WW
|
453 |
485 |
1.43e-13 |
SMART |
|
WW
|
493 |
525 |
6.82e-11 |
SMART |
|
HECTc
|
582 |
918 |
4.83e-177 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108246
|
| SMART Domains |
Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
19 |
113 |
4.19e-9 |
SMART |
|
low complexity region
|
221 |
232 |
N/A |
INTRINSIC |
|
low complexity region
|
266 |
286 |
N/A |
INTRINSIC |
|
WW
|
346 |
378 |
1.03e-14 |
SMART |
|
WW
|
379 |
410 |
7.43e-12 |
SMART |
|
WW
|
453 |
485 |
1.43e-13 |
SMART |
|
WW
|
493 |
525 |
6.82e-11 |
SMART |
|
HECTc
|
582 |
918 |
4.83e-177 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased osteoblast differentiation of bone marrow-derived stromal cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
G |
A |
4: 129,906,177 (GRCm39) |
|
probably benign |
Het |
| Adh7 |
T |
C |
3: 137,932,043 (GRCm39) |
I219T |
probably damaging |
Het |
| Ankmy1 |
C |
A |
1: 92,799,385 (GRCm39) |
|
probably benign |
Het |
| Aoc1 |
A |
G |
6: 48,885,537 (GRCm39) |
I681V |
probably benign |
Het |
| Arfgap3 |
T |
C |
15: 83,197,758 (GRCm39) |
T333A |
probably benign |
Het |
| Cdc42ep4 |
A |
G |
11: 113,619,830 (GRCm39) |
V187A |
probably benign |
Het |
| Cyp4f40 |
G |
A |
17: 32,878,535 (GRCm39) |
G26R |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,163,497 (GRCm39) |
|
probably benign |
Het |
| Dnajb4 |
T |
C |
3: 151,892,176 (GRCm39) |
E219G |
probably damaging |
Het |
| Dnmt3b |
A |
G |
2: 153,518,631 (GRCm39) |
K578R |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,329,570 (GRCm39) |
D4649V |
probably damaging |
Het |
| Fam20c |
T |
C |
5: 138,792,075 (GRCm39) |
S391P |
probably damaging |
Het |
| Fbxw10 |
A |
T |
11: 62,767,582 (GRCm39) |
Y801F |
probably damaging |
Het |
| Frem2 |
T |
G |
3: 53,429,725 (GRCm39) |
E2775A |
probably benign |
Het |
| Frmd4b |
A |
T |
6: 97,272,741 (GRCm39) |
S830T |
possibly damaging |
Het |
| Gatad2a |
T |
G |
8: 70,362,598 (GRCm39) |
S581R |
possibly damaging |
Het |
| Gpcpd1 |
C |
T |
2: 132,381,818 (GRCm39) |
|
probably null |
Het |
| Igsf10 |
A |
G |
3: 59,226,158 (GRCm39) |
L2505P |
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,239,902 (GRCm39) |
D649G |
possibly damaging |
Het |
| Impact |
T |
C |
18: 13,107,815 (GRCm39) |
C28R |
probably benign |
Het |
| Ino80d |
G |
T |
1: 63,097,306 (GRCm39) |
Q863K |
probably damaging |
Het |
| Iqsec1 |
A |
C |
6: 90,653,762 (GRCm39) |
M675R |
probably damaging |
Het |
| Kcng3 |
C |
T |
17: 83,895,279 (GRCm39) |
V396I |
probably damaging |
Het |
| Klhl18 |
A |
T |
9: 110,279,814 (GRCm39) |
D60E |
probably benign |
Het |
| Krtap7-1 |
C |
T |
16: 89,305,156 (GRCm39) |
|
probably benign |
Het |
| Mal2 |
T |
A |
15: 54,461,941 (GRCm39) |
Y145* |
probably null |
Het |
| Mcpt8 |
A |
T |
14: 56,319,864 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
A |
G |
4: 32,758,393 (GRCm39) |
D4810G |
probably benign |
Het |
| Med24 |
T |
C |
11: 98,598,368 (GRCm39) |
I766V |
probably benign |
Het |
| Mga |
G |
A |
2: 119,769,138 (GRCm39) |
V1477M |
probably damaging |
Het |
| Mybph |
T |
A |
1: 134,121,663 (GRCm39) |
V112E |
probably benign |
Het |
| Nmur2 |
A |
T |
11: 55,931,337 (GRCm39) |
S125T |
probably damaging |
Het |
| Or2w3 |
T |
C |
11: 58,556,691 (GRCm39) |
V102A |
probably benign |
Het |
| Or6c212 |
A |
G |
10: 129,558,756 (GRCm39) |
I219T |
probably damaging |
Het |
| Or8b44 |
A |
T |
9: 38,410,003 (GRCm39) |
I13F |
probably damaging |
Het |
| Otop3 |
A |
G |
11: 115,231,795 (GRCm39) |
N220S |
probably damaging |
Het |
| Pacsin1 |
T |
G |
17: 27,923,809 (GRCm39) |
|
probably null |
Het |
| Pcsk1 |
A |
G |
13: 75,241,286 (GRCm39) |
R89G |
possibly damaging |
Het |
| Pde2a |
A |
T |
7: 101,153,947 (GRCm39) |
E509V |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,677,588 (GRCm39) |
|
probably benign |
Het |
| Ppp4r4 |
T |
G |
12: 103,547,753 (GRCm39) |
|
probably benign |
Het |
| Pygb |
T |
A |
2: 150,655,403 (GRCm39) |
N251K |
probably benign |
Het |
| Rsf1 |
C |
T |
7: 97,310,782 (GRCm39) |
T504I |
probably benign |
Het |
| Slc5a11 |
A |
T |
7: 122,869,163 (GRCm39) |
T584S |
probably benign |
Het |
| Smad2 |
G |
A |
18: 76,395,555 (GRCm39) |
|
probably benign |
Het |
| Srsf6 |
G |
A |
2: 162,775,674 (GRCm39) |
R161H |
probably damaging |
Het |
| Tbx3 |
T |
A |
5: 119,820,708 (GRCm39) |
S573T |
probably benign |
Het |
| Tecpr1 |
C |
T |
5: 144,153,737 (GRCm39) |
R172Q |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,619,244 (GRCm39) |
|
probably null |
Het |
| Ubr2 |
T |
C |
17: 47,284,893 (GRCm39) |
M542V |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,647,659 (GRCm39) |
|
probably benign |
Het |
| Vmn1r222 |
T |
A |
13: 23,416,315 (GRCm39) |
K299N |
probably benign |
Het |
| Zbtb46 |
T |
A |
2: 181,065,928 (GRCm39) |
H74L |
possibly damaging |
Het |
| Zfp106 |
A |
T |
2: 120,354,524 (GRCm39) |
L1416I |
probably damaging |
Het |
| Zfp106 |
A |
G |
2: 120,369,803 (GRCm39) |
L73S |
probably benign |
Het |
| Zfp667 |
G |
A |
7: 6,308,336 (GRCm39) |
G335R |
probably benign |
Het |
|
| Other mutations in Wwp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00156:Wwp1
|
APN |
4 |
19,650,360 (GRCm39) |
missense |
probably benign |
|
|
IGL00945:Wwp1
|
APN |
4 |
19,640,193 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01338:Wwp1
|
APN |
4 |
19,627,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02969:Wwp1
|
APN |
4 |
19,623,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03137:Wwp1
|
APN |
4 |
19,678,408 (GRCm39) |
missense |
probably damaging |
0.97 |
|
BB008:Wwp1
|
UTSW |
4 |
19,650,114 (GRCm39) |
critical splice donor site |
probably null |
|
|
BB018:Wwp1
|
UTSW |
4 |
19,650,114 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4243001:Wwp1
|
UTSW |
4 |
19,638,631 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0035:Wwp1
|
UTSW |
4 |
19,631,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0109:Wwp1
|
UTSW |
4 |
19,641,725 (GRCm39) |
intron |
probably benign |
|
|
R0240:Wwp1
|
UTSW |
4 |
19,641,734 (GRCm39) |
splice site |
probably null |
|
|
R0240:Wwp1
|
UTSW |
4 |
19,641,734 (GRCm39) |
splice site |
probably null |
|
|
R0391:Wwp1
|
UTSW |
4 |
19,627,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0464:Wwp1
|
UTSW |
4 |
19,638,763 (GRCm39) |
intron |
probably benign |
|
|
R1604:Wwp1
|
UTSW |
4 |
19,659,709 (GRCm39) |
missense |
probably benign |
|
|
R1716:Wwp1
|
UTSW |
4 |
19,659,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1778:Wwp1
|
UTSW |
4 |
19,627,892 (GRCm39) |
nonsense |
probably null |
|
|
R1832:Wwp1
|
UTSW |
4 |
19,650,197 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2073:Wwp1
|
UTSW |
4 |
19,662,181 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2094:Wwp1
|
UTSW |
4 |
19,650,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2228:Wwp1
|
UTSW |
4 |
19,641,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2229:Wwp1
|
UTSW |
4 |
19,641,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2267:Wwp1
|
UTSW |
4 |
19,638,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2334:Wwp1
|
UTSW |
4 |
19,662,032 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2349:Wwp1
|
UTSW |
4 |
19,638,644 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3761:Wwp1
|
UTSW |
4 |
19,631,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4062:Wwp1
|
UTSW |
4 |
19,638,644 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4731:Wwp1
|
UTSW |
4 |
19,661,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4732:Wwp1
|
UTSW |
4 |
19,661,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4733:Wwp1
|
UTSW |
4 |
19,661,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4838:Wwp1
|
UTSW |
4 |
19,662,143 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4936:Wwp1
|
UTSW |
4 |
19,638,804 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5262:Wwp1
|
UTSW |
4 |
19,631,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5340:Wwp1
|
UTSW |
4 |
19,638,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5847:Wwp1
|
UTSW |
4 |
19,662,174 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6492:Wwp1
|
UTSW |
4 |
19,650,299 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6602:Wwp1
|
UTSW |
4 |
19,641,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6628:Wwp1
|
UTSW |
4 |
19,661,963 (GRCm39) |
splice site |
probably null |
|
|
R7017:Wwp1
|
UTSW |
4 |
19,623,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7195:Wwp1
|
UTSW |
4 |
19,627,908 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7276:Wwp1
|
UTSW |
4 |
19,611,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7450:Wwp1
|
UTSW |
4 |
19,640,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7488:Wwp1
|
UTSW |
4 |
19,627,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7617:Wwp1
|
UTSW |
4 |
19,662,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7707:Wwp1
|
UTSW |
4 |
19,627,645 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7812:Wwp1
|
UTSW |
4 |
19,639,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7864:Wwp1
|
UTSW |
4 |
19,635,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7931:Wwp1
|
UTSW |
4 |
19,650,114 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8006:Wwp1
|
UTSW |
4 |
19,650,174 (GRCm39) |
missense |
probably benign |
|
|
R8851:Wwp1
|
UTSW |
4 |
19,643,437 (GRCm39) |
missense |
probably null |
1.00 |
|
R8910:Wwp1
|
UTSW |
4 |
19,627,741 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9020:Wwp1
|
UTSW |
4 |
19,650,282 (GRCm39) |
missense |
probably benign |
|
|
R9417:Wwp1
|
UTSW |
4 |
19,662,215 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9736:Wwp1
|
UTSW |
4 |
19,631,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0018:Wwp1
|
UTSW |
4 |
19,640,261 (GRCm39) |
missense |
probably benign |
0.41 |
|
X0062:Wwp1
|
UTSW |
4 |
19,638,794 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
| Posted On |
2014-05-07 |
Incidental Mutation