Incidental Mutation 'R7450:Wwp1'
ID |
577627 |
Institutional Source |
Beutler Lab
|
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 # |
R7450 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
19608303-19708993 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 19640016 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 509
(Y509H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103881
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035982]
[ENSMUST00000108246]
[ENSMUST00000108250]
|
AlphaFold |
Q8BZZ3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035982
AA Change: Y509H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000041627 Gene: ENSMUSG00000041058 AA Change: Y509H
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: Y509H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103881 Gene: ENSMUSG00000041058 AA Change: Y509H
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: ENSMUST00000108250
|
SMART Domains |
Protein: ENSMUSP00000103885 Gene: ENSMUSG00000078772
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
48 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
A |
5: 113,331,977 (GRCm39) |
R746W |
possibly damaging |
Het |
Abcc2 |
T |
C |
19: 43,810,478 (GRCm39) |
L925P |
probably damaging |
Het |
Abcc3 |
A |
T |
11: 94,252,521 (GRCm39) |
H787Q |
probably damaging |
Het |
Acly |
A |
T |
11: 100,370,101 (GRCm39) |
V987E |
probably damaging |
Het |
Afg2a |
T |
C |
3: 37,510,934 (GRCm39) |
L697S |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,525,147 (GRCm39) |
Y1676* |
probably null |
Het |
Ccdc168 |
A |
G |
1: 44,097,933 (GRCm39) |
V1055A |
probably benign |
Het |
Ccdc175 |
T |
A |
12: 72,202,447 (GRCm39) |
I283F |
possibly damaging |
Het |
Cfap46 |
A |
T |
7: 139,197,353 (GRCm39) |
F2173I |
unknown |
Het |
Cln6 |
G |
A |
9: 62,757,912 (GRCm39) |
E224K |
probably damaging |
Het |
Cyp1a1 |
T |
A |
9: 57,609,415 (GRCm39) |
L372Q |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 31,006,165 (GRCm39) |
I3694N |
probably damaging |
Het |
Dnal1 |
T |
C |
12: 84,171,297 (GRCm39) |
Y31H |
probably benign |
Het |
Eid3 |
T |
A |
10: 82,702,737 (GRCm39) |
M66K |
probably benign |
Het |
Epo |
T |
A |
5: 137,481,497 (GRCm39) |
E143D |
probably damaging |
Het |
Fbxo25 |
C |
A |
8: 13,981,235 (GRCm39) |
N236K |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,782,024 (GRCm39) |
I266V |
probably benign |
Het |
Galnt6 |
T |
C |
15: 100,595,696 (GRCm39) |
Y444C |
probably damaging |
Het |
Gna11 |
T |
C |
10: 81,368,356 (GRCm39) |
Y160C |
|
Het |
Hectd4 |
A |
T |
5: 121,419,995 (GRCm39) |
T647S |
probably benign |
Het |
Hgd |
T |
C |
16: 37,444,686 (GRCm39) |
V316A |
possibly damaging |
Het |
Idh3a |
T |
C |
9: 54,503,367 (GRCm39) |
V142A |
probably damaging |
Het |
Il3ra |
T |
A |
14: 14,351,090 (GRCm38) |
I297N |
probably benign |
Het |
Kcnj5 |
T |
G |
9: 32,233,491 (GRCm39) |
I275L |
possibly damaging |
Het |
Kdm7a |
A |
T |
6: 39,120,185 (GRCm39) |
L928Q |
probably damaging |
Het |
Kmo |
A |
G |
1: 175,466,666 (GRCm39) |
I75V |
probably benign |
Het |
Krtap1-3 |
C |
A |
11: 99,481,697 (GRCm39) |
C150F |
unknown |
Het |
Lingo3 |
C |
A |
10: 80,670,671 (GRCm39) |
E420* |
probably null |
Het |
Lrrc37a |
A |
G |
11: 103,389,152 (GRCm39) |
V2091A |
probably benign |
Het |
N4bp2 |
T |
A |
5: 65,982,643 (GRCm39) |
Y1632* |
probably null |
Het |
Nlrp1a |
C |
A |
11: 70,998,484 (GRCm39) |
G905V |
probably damaging |
Het |
Nlrp9c |
T |
A |
7: 26,064,364 (GRCm39) |
E988V |
probably benign |
Het |
Nol8 |
T |
G |
13: 49,813,491 (GRCm39) |
H179Q |
probably benign |
Het |
Notch3 |
G |
A |
17: 32,360,365 (GRCm39) |
P1522L |
possibly damaging |
Het |
Nup210l |
T |
C |
3: 90,022,495 (GRCm39) |
|
probably null |
Het |
Oas1b |
T |
A |
5: 120,959,321 (GRCm39) |
Y234* |
probably null |
Het |
Or10al7 |
T |
C |
17: 38,366,000 (GRCm39) |
I152M |
probably benign |
Het |
Or12d17 |
C |
A |
17: 37,777,507 (GRCm39) |
Q137K |
probably benign |
Het |
Or12e14 |
A |
C |
2: 87,676,803 (GRCm39) |
K63Q |
probably damaging |
Het |
Or13c9 |
T |
A |
4: 52,936,113 (GRCm39) |
K57* |
probably null |
Het |
Or6c1b |
A |
C |
10: 129,273,298 (GRCm39) |
M206L |
probably benign |
Het |
Pag1 |
T |
C |
3: 9,764,599 (GRCm39) |
T185A |
probably damaging |
Het |
Palmd |
A |
T |
3: 116,721,292 (GRCm39) |
S100T |
probably damaging |
Het |
Papln |
C |
A |
12: 83,826,945 (GRCm39) |
A690E |
probably benign |
Het |
Pcdhga7 |
C |
T |
18: 37,849,079 (GRCm39) |
T362M |
probably benign |
Het |
Pmpcb |
T |
A |
5: 21,951,983 (GRCm39) |
V286E |
possibly damaging |
Het |
Pon3 |
T |
C |
6: 5,236,940 (GRCm39) |
I142M |
possibly damaging |
Het |
Prdx6 |
A |
G |
1: 161,069,386 (GRCm39) |
S194P |
probably benign |
Het |
Rapgef2 |
T |
C |
3: 79,080,366 (GRCm39) |
E112G |
probably benign |
Het |
Rasgrp1 |
T |
C |
2: 117,118,424 (GRCm39) |
I522V |
probably damaging |
Het |
Rhox4d |
G |
A |
X: 36,700,645 (GRCm39) |
G191E |
unknown |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rps6kb1 |
T |
A |
11: 86,393,657 (GRCm39) |
E491V |
probably benign |
Het |
Sema3d |
C |
T |
5: 12,634,901 (GRCm39) |
Q656* |
probably null |
Het |
Shisa6 |
A |
T |
11: 66,108,832 (GRCm39) |
D348E |
probably benign |
Het |
Slc16a7 |
G |
T |
10: 125,063,920 (GRCm39) |
H472Q |
probably benign |
Het |
Slc49a4 |
T |
C |
16: 35,589,344 (GRCm39) |
I90V |
possibly damaging |
Het |
Slc9a2 |
A |
G |
1: 40,720,995 (GRCm39) |
|
probably benign |
Het |
Smad4 |
A |
G |
18: 73,810,924 (GRCm39) |
V20A |
probably damaging |
Het |
Sstr3 |
G |
A |
15: 78,424,043 (GRCm39) |
R235W |
probably damaging |
Het |
Svep1 |
T |
A |
4: 58,064,248 (GRCm39) |
H3245L |
possibly damaging |
Het |
Tra2a |
G |
A |
6: 49,227,919 (GRCm39) |
R70* |
probably null |
Het |
Trav7-4 |
G |
T |
14: 53,698,924 (GRCm39) |
V24L |
probably benign |
Het |
Tsc2 |
C |
A |
17: 24,819,005 (GRCm39) |
S1278I |
probably damaging |
Het |
Ubtf |
A |
G |
11: 102,197,475 (GRCm39) |
S726P |
unknown |
Het |
Vmn2r42 |
A |
T |
7: 8,187,220 (GRCm39) |
Y851N |
probably benign |
Het |
Xirp2 |
A |
C |
2: 67,340,159 (GRCm39) |
Q800P |
possibly damaging |
Het |
Zc3h7b |
T |
C |
15: 81,667,281 (GRCm39) |
F609L |
probably benign |
Het |
Zdhhc8 |
G |
T |
16: 18,043,035 (GRCm39) |
H388Q |
probably benign |
Het |
Zfp1004 |
A |
G |
2: 150,035,046 (GRCm39) |
T456A |
probably benign |
Het |
Zfp644 |
T |
C |
5: 106,786,392 (GRCm39) |
K52E |
probably benign |
Het |
Zfp82 |
T |
G |
7: 29,756,320 (GRCm39) |
E254A |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCGTAACAGGGACCTGATG -3'
(R):5'- TCCAAGAACTCAAGGGTATGTG -3'
Sequencing Primer
(F):5'- TGGCATGCAGTAACTATTACACAC -3'
(R):5'- CTCAAGGGTATGTGTAAACTACAGTC -3'
|
Posted On |
2019-10-07 |