Incidental Mutation 'IGL03137:Wwp1'
| ID |
410578 |
| 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 # |
IGL03137
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
19608303-19708993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19678408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 3
(T3S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035982]
[ENSMUST00000108246]
|
| AlphaFold |
Q8BZZ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035982
AA Change: T3S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058
AA Change: T3S
| 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 damaging
Transcript: ENSMUST00000108246
AA Change: T3S
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058
AA Change: T3S
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankub1 |
T |
C |
3: 57,597,778 (GRCm39) |
D64G |
probably damaging |
Het |
| Apobec2 |
C |
T |
17: 48,730,303 (GRCm39) |
W121* |
probably null |
Het |
| Arid2 |
A |
G |
15: 96,269,199 (GRCm39) |
N1104S |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,088,751 (GRCm39) |
M569K |
probably damaging |
Het |
| Brap |
T |
C |
5: 121,803,156 (GRCm39) |
|
probably benign |
Het |
| Cilp |
A |
C |
9: 65,185,450 (GRCm39) |
N515T |
probably benign |
Het |
| Cpeb2 |
T |
A |
5: 43,419,067 (GRCm39) |
|
probably benign |
Het |
| Creb1 |
C |
T |
1: 64,615,374 (GRCm39) |
T242I |
possibly damaging |
Het |
| Ddx60 |
T |
C |
8: 62,441,117 (GRCm39) |
V1062A |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,133,312 (GRCm39) |
E1153G |
probably benign |
Het |
| Gk5 |
A |
G |
9: 96,058,345 (GRCm39) |
|
probably benign |
Het |
| Gm5478 |
G |
T |
15: 101,552,817 (GRCm39) |
N60K |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,252,242 (GRCm39) |
V904D |
probably damaging |
Het |
| Hnmt |
T |
A |
2: 23,938,751 (GRCm39) |
H29L |
probably damaging |
Het |
| Hsf1 |
A |
G |
15: 76,380,649 (GRCm39) |
|
probably benign |
Het |
| Igkv1-122 |
C |
A |
6: 67,994,400 (GRCm39) |
T96K |
probably damaging |
Het |
| Iyd |
T |
C |
10: 3,501,987 (GRCm39) |
I211T |
probably damaging |
Het |
| Kcnn1 |
G |
T |
8: 71,303,381 (GRCm39) |
H34N |
probably damaging |
Het |
| Krtap5-3 |
G |
T |
7: 141,755,946 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
C |
T |
1: 127,752,052 (GRCm39) |
R433K |
probably benign |
Het |
| Mss51 |
A |
C |
14: 20,537,200 (GRCm39) |
C89W |
probably damaging |
Het |
| Myh9 |
A |
T |
15: 77,675,289 (GRCm39) |
I276N |
probably damaging |
Het |
| Myof |
T |
C |
19: 37,963,337 (GRCm39) |
E420G |
probably damaging |
Het |
| Nfatc2ip |
C |
A |
7: 125,989,740 (GRCm39) |
V215L |
possibly damaging |
Het |
| Or10ag52 |
A |
T |
2: 87,043,500 (GRCm39) |
Y88F |
probably benign |
Het |
| Or51m1 |
T |
C |
7: 103,578,801 (GRCm39) |
M257T |
probably benign |
Het |
| Or5d18 |
G |
A |
2: 87,864,754 (GRCm39) |
A243V |
probably benign |
Het |
| Pcdhb4 |
T |
C |
18: 37,441,569 (GRCm39) |
I293T |
probably damaging |
Het |
| Pdcd6ip |
A |
G |
9: 113,486,213 (GRCm39) |
S729P |
possibly damaging |
Het |
| Pick1 |
C |
A |
15: 79,129,501 (GRCm39) |
H169N |
possibly damaging |
Het |
| Ppp4r4 |
A |
C |
12: 103,547,643 (GRCm39) |
K212T |
probably damaging |
Het |
| Racgap1 |
A |
G |
15: 99,526,622 (GRCm39) |
S314P |
probably damaging |
Het |
| Rasef |
C |
A |
4: 73,652,720 (GRCm39) |
E594* |
probably null |
Het |
| Ryr3 |
T |
G |
2: 112,740,742 (GRCm39) |
K522Q |
probably benign |
Het |
| Shoc1 |
G |
T |
4: 59,094,162 (GRCm39) |
F187L |
probably benign |
Het |
| Six5 |
T |
C |
7: 18,831,072 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
G |
T |
1: 131,691,615 (GRCm39) |
E619D |
probably benign |
Het |
| Sqor |
A |
G |
2: 122,649,991 (GRCm39) |
I412V |
probably benign |
Het |
| Srrt |
T |
A |
5: 137,294,379 (GRCm39) |
|
probably benign |
Het |
| Sult1e1 |
C |
T |
5: 87,726,475 (GRCm39) |
R213K |
probably benign |
Het |
| Tmc2 |
T |
A |
2: 130,082,050 (GRCm39) |
L411H |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,975,921 (GRCm39) |
N511Y |
probably damaging |
Het |
| Ucp3 |
T |
A |
7: 100,131,969 (GRCm39) |
|
probably benign |
Het |
| Vmn1r201 |
A |
T |
13: 22,658,974 (GRCm39) |
I63F |
probably benign |
Het |
| Vps13c |
G |
T |
9: 67,797,662 (GRCm39) |
L522F |
probably damaging |
Het |
| Zc3hav1 |
A |
G |
6: 38,309,329 (GRCm39) |
S498P |
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 |
|
IGL01960:Wwp1
|
APN |
4 |
19,662,115 (GRCm39) |
splice site |
probably benign |
|
|
IGL02969:Wwp1
|
APN |
4 |
19,623,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation