Incidental Mutation 'R7488:Wwp1'
| ID |
580318 |
| 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 |
| MMRRC Submission |
045562-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7488 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
19608303-19708993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 19627660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 745
(T745K)
|
| 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: T745K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058
AA Change: T745K
| 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: T745K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058
AA Change: T745K
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,197,179 (GRCm39) |
F251I |
possibly damaging |
Het |
| Abcb11 |
C |
T |
2: 69,108,146 (GRCm39) |
G717D |
probably benign |
Het |
| Abcc1 |
G |
A |
16: 14,207,763 (GRCm39) |
W47* |
probably null |
Het |
| Ahnak2 |
A |
G |
12: 112,748,641 (GRCm39) |
I402T |
|
Het |
| Ankfy1 |
G |
A |
11: 72,650,769 (GRCm39) |
R984Q |
probably benign |
Het |
| Apaf1 |
A |
G |
10: 90,890,242 (GRCm39) |
I598T |
probably benign |
Het |
| Apobec1 |
G |
T |
6: 122,558,521 (GRCm39) |
P78Q |
possibly damaging |
Het |
| Asap1 |
A |
T |
15: 63,991,974 (GRCm39) |
I737N |
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,279,904 (GRCm39) |
|
probably null |
Het |
| Bcr |
A |
C |
10: 74,996,162 (GRCm39) |
D902A |
possibly damaging |
Het |
| Bicra |
T |
C |
7: 15,723,367 (GRCm39) |
|
probably null |
Het |
| Ccdc27 |
T |
C |
4: 154,117,424 (GRCm39) |
T508A |
probably benign |
Het |
| Ccz1 |
T |
A |
5: 143,928,401 (GRCm39) |
N383I |
probably damaging |
Het |
| Cdh24 |
T |
C |
14: 54,869,637 (GRCm39) |
D760G |
possibly damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,865,728 (GRCm39) |
I242T |
probably benign |
Het |
| Cdk4 |
T |
A |
10: 126,900,106 (GRCm39) |
M1K |
probably null |
Het |
| Cfap96 |
A |
G |
8: 46,415,331 (GRCm39) |
V225A |
probably benign |
Het |
| Cntn5 |
A |
T |
9: 9,970,570 (GRCm39) |
S302T |
probably damaging |
Het |
| Col25a1 |
G |
T |
3: 130,378,350 (GRCm39) |
G601V |
probably damaging |
Het |
| Cpb1 |
A |
G |
3: 20,324,488 (GRCm39) |
L62P |
possibly damaging |
Het |
| Cpne1 |
T |
C |
2: 155,919,857 (GRCm39) |
T264A |
probably benign |
Het |
| Cpvl |
T |
A |
6: 53,924,727 (GRCm39) |
N198Y |
probably damaging |
Het |
| Cyp2u1 |
A |
C |
3: 131,091,596 (GRCm39) |
L308R |
probably damaging |
Het |
| Ddx54 |
G |
T |
5: 120,762,789 (GRCm39) |
V637L |
probably benign |
Het |
| Dglucy |
C |
A |
12: 100,823,310 (GRCm39) |
P472T |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,124,855 (GRCm39) |
Y2006H |
probably benign |
Het |
| Eif5b |
T |
C |
1: 38,089,387 (GRCm39) |
M1121T |
possibly damaging |
Het |
| Emsy |
A |
G |
7: 98,264,762 (GRCm39) |
V545A |
possibly damaging |
Het |
| Ezh1 |
G |
A |
11: 101,091,726 (GRCm39) |
L480F |
possibly damaging |
Het |
| Fbln2 |
T |
A |
6: 91,242,845 (GRCm39) |
|
probably null |
Het |
| Gja10 |
T |
A |
4: 32,602,058 (GRCm39) |
K109* |
probably null |
Het |
| Gm28042 |
A |
G |
2: 119,870,438 (GRCm39) |
N762S |
probably benign |
Het |
| Gnb1l |
C |
A |
16: 18,359,220 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Grem2 |
A |
T |
1: 174,664,685 (GRCm39) |
S55T |
probably damaging |
Het |
| Gsn |
A |
T |
2: 35,186,433 (GRCm39) |
N393I |
possibly damaging |
Het |
| H6pd |
T |
A |
4: 150,067,093 (GRCm39) |
Q439L |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,310,842 (GRCm39) |
G3362E |
probably damaging |
Het |
| Ighv11-2 |
T |
C |
12: 114,011,978 (GRCm39) |
Y79C |
probably damaging |
Het |
| Ikzf2 |
T |
A |
1: 69,578,544 (GRCm39) |
N322Y |
probably benign |
Het |
| Il25 |
A |
G |
14: 55,170,459 (GRCm39) |
I11V |
probably benign |
Het |
| Jak2 |
C |
T |
19: 29,275,783 (GRCm39) |
T741I |
probably damaging |
Het |
| Kdm3b |
T |
C |
18: 34,957,934 (GRCm39) |
S1300P |
probably damaging |
Het |
| Ldb3 |
T |
A |
14: 34,289,402 (GRCm39) |
Q268L |
probably damaging |
Het |
| Lrrc23 |
T |
A |
6: 124,756,075 (GRCm39) |
D6V |
unknown |
Het |
| Megf10 |
A |
G |
18: 57,324,187 (GRCm39) |
Y76C |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,110,233 (GRCm39) |
M205K |
probably benign |
Het |
| Or12e8 |
T |
C |
2: 87,188,597 (GRCm39) |
S270P |
probably damaging |
Het |
| Or6c2b |
G |
T |
10: 128,947,605 (GRCm39) |
Q230K |
probably benign |
Het |
| Or8a1 |
A |
G |
9: 37,641,983 (GRCm39) |
S99P |
probably damaging |
Het |
| Pcnx3 |
G |
A |
19: 5,717,487 (GRCm39) |
R1541W |
possibly damaging |
Het |
| Pdgfd |
A |
G |
9: 6,359,739 (GRCm39) |
Y270C |
probably damaging |
Het |
| Pds5b |
A |
T |
5: 150,646,802 (GRCm39) |
D197V |
probably damaging |
Het |
| Pknox2 |
A |
G |
9: 36,866,127 (GRCm39) |
M30T |
probably benign |
Het |
| Plekhg1 |
A |
T |
10: 3,907,491 (GRCm39) |
S858C |
|
Het |
| Por |
A |
T |
5: 135,762,498 (GRCm39) |
E400D |
probably benign |
Het |
| Pou2af2 |
C |
A |
9: 51,201,360 (GRCm39) |
R232L |
probably damaging |
Het |
| Psip1 |
A |
G |
4: 83,391,275 (GRCm39) |
|
probably null |
Het |
| Retreg1 |
G |
T |
15: 25,889,628 (GRCm39) |
V111F |
|
Het |
| Rock1 |
G |
A |
18: 10,122,762 (GRCm39) |
A353V |
probably damaging |
Het |
| Rpl6 |
C |
G |
5: 121,346,591 (GRCm39) |
R231G |
probably benign |
Het |
| Scn7a |
C |
T |
2: 66,587,574 (GRCm39) |
R43H |
probably benign |
Het |
| Scnn1g |
T |
A |
7: 121,362,657 (GRCm39) |
N488K |
probably benign |
Het |
| Slc24a1 |
A |
G |
9: 64,831,764 (GRCm39) |
V1111A |
probably benign |
Het |
| Snapc1 |
C |
T |
12: 74,029,285 (GRCm39) |
S356L |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,723,039 (GRCm39) |
T714A |
possibly damaging |
Het |
| Ssbp2 |
T |
A |
13: 91,823,209 (GRCm39) |
N201K |
probably damaging |
Het |
| Tfdp2 |
A |
G |
9: 96,179,695 (GRCm39) |
N43D |
probably damaging |
Het |
| Tmprss11d |
A |
G |
5: 86,474,309 (GRCm39) |
I216T |
probably damaging |
Het |
| Tmprss4 |
A |
G |
9: 45,086,853 (GRCm39) |
S303P |
probably benign |
Het |
| Tnpo2 |
A |
G |
8: 85,781,663 (GRCm39) |
E815G |
probably benign |
Het |
| Trav6-1 |
A |
C |
14: 52,875,972 (GRCm39) |
M1L |
possibly damaging |
Het |
| Trpm3 |
T |
C |
19: 22,955,937 (GRCm39) |
V1133A |
probably damaging |
Het |
| Trpv1 |
C |
T |
11: 73,129,355 (GRCm39) |
P91S |
probably benign |
Het |
| Trpv2 |
T |
C |
11: 62,480,576 (GRCm39) |
Y338H |
probably damaging |
Het |
| Txnip |
T |
C |
3: 96,467,539 (GRCm39) |
M336T |
probably benign |
Het |
| Vmn1r61 |
A |
T |
7: 5,613,767 (GRCm39) |
H182Q |
possibly damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,429,045 (GRCm39) |
V677A |
probably damaging |
Het |
| Xkr5 |
C |
A |
8: 18,983,608 (GRCm39) |
E645* |
probably null |
Het |
| Zfp451 |
C |
T |
1: 33,818,221 (GRCm39) |
R303H |
probably benign |
Het |
| Zyg11b |
T |
C |
4: 108,123,655 (GRCm39) |
H104R |
possibly 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 |
|
R7450:Wwp1
|
UTSW |
4 |
19,640,016 (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'- TATGCATTGTTCGAGCAAACTC -3'
(R):5'- ACTTGAAACCCATTCCTATACTGTG -3'
Sequencing Primer
(F):5'- ACTCGAGCAGGATCTGGATC -3'
(R):5'- CTGTAGACATGGAGATTCTGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation