Incidental Mutation 'R2094:Wwp1'
ID |
231963 |
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 |
040098-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2094 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
19608303-19708993 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 19650390 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 259
(T259A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103881
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035982]
[ENSMUST00000108246]
[ENSMUST00000108250]
|
AlphaFold |
Q8BZZ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035982
AA Change: T259A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000041627 Gene: ENSMUSG00000041058 AA Change: T259A
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
AA Change: T259A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103881 Gene: ENSMUSG00000041058 AA Change: T259A
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 |
|
Meta Mutation Damage Score |
0.0604 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (56/56) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
A |
G |
1: 192,857,154 (GRCm39) |
I169V |
probably benign |
Het |
Arrdc5 |
A |
G |
17: 56,604,856 (GRCm39) |
S144P |
probably benign |
Het |
Astn1 |
A |
G |
1: 158,495,179 (GRCm39) |
M92V |
probably benign |
Het |
Atg5 |
A |
G |
10: 44,195,544 (GRCm39) |
I189M |
probably damaging |
Het |
Atmin |
A |
G |
8: 117,684,277 (GRCm39) |
T646A |
probably damaging |
Het |
Atp1a2 |
G |
A |
1: 172,115,000 (GRCm39) |
R262W |
probably damaging |
Het |
Atp6v1g2 |
A |
G |
17: 35,455,785 (GRCm39) |
K16E |
probably damaging |
Het |
Bex6 |
G |
A |
16: 32,005,278 (GRCm39) |
E29K |
possibly damaging |
Het |
Casd1 |
A |
G |
6: 4,608,705 (GRCm39) |
Y101C |
probably damaging |
Het |
Ccdc168 |
A |
C |
1: 44,098,890 (GRCm39) |
I736S |
probably benign |
Het |
Cdx1 |
T |
C |
18: 61,168,984 (GRCm39) |
D70G |
possibly damaging |
Het |
Cebpz |
T |
C |
17: 79,242,983 (GRCm39) |
T224A |
probably benign |
Het |
Cep170b |
T |
C |
12: 112,702,164 (GRCm39) |
V319A |
possibly damaging |
Het |
Chrna2 |
C |
T |
14: 66,386,912 (GRCm39) |
R353W |
possibly damaging |
Het |
Chst5 |
A |
T |
8: 112,617,176 (GRCm39) |
V148E |
probably benign |
Het |
Clhc1 |
T |
A |
11: 29,507,771 (GRCm39) |
W162R |
probably benign |
Het |
Csmd1 |
T |
A |
8: 16,129,992 (GRCm39) |
Q1710L |
probably damaging |
Het |
Ddb1 |
A |
C |
19: 10,590,300 (GRCm39) |
M276L |
probably benign |
Het |
Dot1l |
C |
T |
10: 80,621,712 (GRCm39) |
R455C |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,148,735 (GRCm39) |
V903A |
probably benign |
Het |
Eno1b |
T |
C |
18: 48,180,542 (GRCm39) |
V240A |
possibly damaging |
Het |
Erich1 |
T |
G |
8: 14,140,527 (GRCm39) |
|
probably benign |
Het |
Ermp1 |
A |
C |
19: 29,617,328 (GRCm39) |
S227A |
probably benign |
Het |
Etv1 |
C |
A |
12: 38,885,115 (GRCm39) |
P143Q |
probably null |
Het |
Gimap8 |
A |
T |
6: 48,627,502 (GRCm39) |
I159F |
probably benign |
Het |
Gpr4 |
G |
A |
7: 18,956,503 (GRCm39) |
V142M |
possibly damaging |
Het |
Gucy1a1 |
C |
T |
3: 82,020,639 (GRCm39) |
C86Y |
probably benign |
Het |
Ifngr2 |
T |
G |
16: 91,358,667 (GRCm39) |
|
probably null |
Het |
Insrr |
A |
T |
3: 87,710,488 (GRCm39) |
N398I |
probably damaging |
Het |
Iws1 |
A |
G |
18: 32,217,719 (GRCm39) |
E441G |
probably damaging |
Het |
Larp7-ps |
A |
G |
4: 92,079,893 (GRCm39) |
S32P |
probably damaging |
Het |
Megf10 |
A |
T |
18: 57,414,785 (GRCm39) |
K732* |
probably null |
Het |
Mprip |
T |
A |
11: 59,640,334 (GRCm39) |
|
probably benign |
Het |
Mrgprb8 |
T |
C |
7: 48,038,953 (GRCm39) |
V208A |
probably benign |
Het |
Msc |
G |
C |
1: 14,825,908 (GRCm39) |
P22R |
probably benign |
Het |
Opcml |
G |
A |
9: 28,812,886 (GRCm39) |
E193K |
probably damaging |
Het |
Or4k15b |
A |
T |
14: 50,272,171 (GRCm39) |
S230T |
probably damaging |
Het |
Oxsr1 |
A |
C |
9: 119,123,560 (GRCm39) |
H71Q |
probably benign |
Het |
Pkp2 |
T |
A |
16: 16,064,831 (GRCm39) |
W452R |
probably damaging |
Het |
Prrc2b |
C |
T |
2: 32,072,582 (GRCm39) |
T20I |
probably damaging |
Het |
Rasgrp3 |
T |
C |
17: 75,810,136 (GRCm39) |
S279P |
probably damaging |
Het |
Rtl1 |
T |
A |
12: 109,557,831 (GRCm39) |
D1336V |
unknown |
Het |
Serpina3m |
G |
T |
12: 104,355,529 (GRCm39) |
K65N |
probably benign |
Het |
Serpine2 |
A |
G |
1: 79,788,411 (GRCm39) |
V182A |
probably damaging |
Het |
Slc10a1 |
A |
G |
12: 81,002,822 (GRCm39) |
V272A |
possibly damaging |
Het |
Slc25a29 |
A |
T |
12: 108,793,358 (GRCm39) |
N73K |
probably damaging |
Het |
Slit1 |
G |
A |
19: 41,594,819 (GRCm39) |
R1184W |
probably damaging |
Het |
Srrm2 |
T |
C |
17: 24,031,403 (GRCm39) |
|
probably benign |
Het |
Stk11ip |
A |
G |
1: 75,502,165 (GRCm39) |
|
probably benign |
Het |
Tcerg1 |
A |
G |
18: 42,697,210 (GRCm39) |
K767R |
possibly damaging |
Het |
Tmem82 |
T |
C |
4: 141,343,598 (GRCm39) |
K224R |
probably benign |
Het |
Tmprss11g |
A |
G |
5: 86,647,415 (GRCm39) |
L41S |
probably damaging |
Het |
Trim42 |
T |
C |
9: 97,248,150 (GRCm39) |
N182S |
probably benign |
Het |
Ttn |
T |
C |
2: 76,660,432 (GRCm39) |
T7430A |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAGAGTCAGGGTCTATGAGG -3'
(R):5'- GTTTTGCTTTGAGTTAGCTACCAC -3'
Sequencing Primer
(F):5'- TCAGGGTCTATGAGGCTCCGAG -3'
(R):5'- CCTAATGTTGGTGTCTCTTTGC -3'
|
Posted On |
2014-09-18 |