Incidental Mutation 'R8006:Wwp1'
| ID |
616614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwp1
|
| Ensembl Gene |
ENSMUSG00000041058 |
| Gene Name |
WW domain containing E3 ubiquitin protein ligase 1 |
| Synonyms |
Tiul1, SDRP1, 8030445B08Rik, AIP5 |
| MMRRC Submission |
046046-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8006 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
19608303-19708993 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19650174 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 331
(C331S)
|
| 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: C331S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058
AA Change: C331S
| 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: C331S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058
AA Change: C331S
| 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: 99.7%
- 20x: 99.1%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
T |
A |
8: 40,795,907 (GRCm38) |
H351Q |
probably benign |
Het |
| Ahnak |
T |
C |
19: 9,012,083 (GRCm38) |
V3577A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,579,696 (GRCm38) |
S126P |
probably damaging |
Het |
| Akip1 |
A |
G |
7: 109,703,992 (GRCm38) |
D14G |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,648,719 (GRCm38) |
R287G |
|
Het |
| Ankrd13a |
A |
C |
5: 114,804,423 (GRCm38) |
*589S |
probably null |
Het |
| Ankrd34c |
T |
C |
9: 89,729,836 (GRCm38) |
I151V |
probably damaging |
Het |
| Ano5 |
T |
A |
7: 51,593,770 (GRCm38) |
D880E |
probably benign |
Het |
| Arl3 |
A |
C |
19: 46,558,374 (GRCm38) |
L4R |
probably damaging |
Het |
| Ate1 |
T |
A |
7: 130,467,388 (GRCm38) |
Q340L |
probably damaging |
Het |
| Ccdc38 |
A |
T |
10: 93,555,586 (GRCm38) |
|
probably null |
Het |
| Celsr3 |
C |
T |
9: 108,829,107 (GRCm38) |
P930S |
probably damaging |
Het |
| Cox18 |
C |
T |
5: 90,223,813 (GRCm38) |
V43M |
probably damaging |
Het |
| Ctnna3 |
A |
G |
10: 63,582,011 (GRCm38) |
K176R |
probably benign |
Het |
| Fam135b |
T |
C |
15: 71,462,334 (GRCm38) |
T1004A |
probably benign |
Het |
| Fam227a |
A |
G |
15: 79,634,098 (GRCm38) |
I335T |
possibly damaging |
Het |
| Gm14496 |
A |
G |
2: 181,995,876 (GRCm38) |
I248V |
probably benign |
Het |
| Gm4788 |
A |
G |
1: 139,736,852 (GRCm38) |
Y490H |
probably damaging |
Het |
| Gm5415 |
T |
A |
1: 32,546,924 (GRCm38) |
|
probably benign |
Het |
| Gm6871 |
T |
C |
7: 41,545,682 (GRCm38) |
T544A |
probably benign |
Het |
| Grm6 |
A |
T |
11: 50,864,657 (GRCm38) |
*872L |
probably null |
Het |
| Herc1 |
T |
A |
9: 66,445,560 (GRCm38) |
Y2109* |
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 105,519,103 (GRCm38) |
V80E |
possibly damaging |
Het |
| Itgb3 |
T |
C |
11: 104,665,496 (GRCm38) |
V721A |
possibly damaging |
Het |
| Jade1 |
A |
T |
3: 41,613,689 (GRCm38) |
I731L |
probably benign |
Het |
| Khnyn |
G |
A |
14: 55,887,590 (GRCm38) |
V434I |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,589,619 (GRCm38) |
L714P |
probably damaging |
Het |
| Lrrc41 |
G |
A |
4: 116,094,888 (GRCm38) |
E585K |
possibly damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,076,951 (GRCm38) |
Y70C |
probably damaging |
Het |
| Mex3a |
T |
A |
3: 88,537,086 (GRCm38) |
C490S |
probably damaging |
Het |
| Mmp27 |
C |
T |
9: 7,578,984 (GRCm38) |
R387C |
probably damaging |
Het |
| Mro |
A |
T |
18: 73,877,506 (GRCm38) |
D219V |
possibly damaging |
Het |
| Myot |
T |
A |
18: 44,354,837 (GRCm38) |
L407Q |
probably damaging |
Het |
| Nppa |
T |
A |
4: 148,001,181 (GRCm38) |
W82R |
probably damaging |
Het |
| Olfr243 |
T |
A |
7: 103,717,325 (GRCm38) |
C244S |
probably damaging |
Het |
| Olfr981 |
T |
G |
9: 40,022,474 (GRCm38) |
L27R |
probably damaging |
Het |
| Olfr994 |
T |
C |
2: 85,429,974 (GRCm38) |
N285S |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,890,126 (GRCm38) |
I1123L |
possibly damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,734,106 (GRCm38) |
I695T |
probably benign |
Het |
| Ppp1r10 |
A |
T |
17: 35,928,266 (GRCm38) |
M347L |
probably benign |
Het |
| Reln |
A |
T |
5: 21,899,084 (GRCm38) |
C3296* |
probably null |
Het |
| Slf2 |
T |
A |
19: 44,942,317 (GRCm38) |
L611Q |
probably damaging |
Het |
| Spire1 |
G |
A |
18: 67,501,181 (GRCm38) |
Q396* |
probably null |
Het |
| Taf2 |
A |
G |
15: 55,048,701 (GRCm38) |
F537L |
probably damaging |
Het |
| Tbc1d16 |
C |
T |
11: 119,156,072 (GRCm38) |
E451K |
probably damaging |
Het |
| Tcof1 |
G |
C |
18: 60,829,051 (GRCm38) |
A702G |
possibly damaging |
Het |
| Tmem267 |
T |
A |
13: 119,609,238 (GRCm38) |
V143E |
probably damaging |
Het |
| Tyw1 |
C |
T |
5: 130,268,072 (GRCm38) |
R177W |
possibly damaging |
Het |
| Vcp |
A |
T |
4: 42,985,993 (GRCm38) |
H340Q |
probably benign |
Het |
| Vmn2r14 |
A |
T |
5: 109,220,458 (GRCm38) |
L223M |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,268,356 (GRCm38) |
D533G |
probably benign |
Het |
| Zik1 |
A |
T |
7: 10,490,173 (GRCm38) |
C332* |
probably null |
Het |
|
| Other mutations in Wwp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00156:Wwp1
|
APN |
4 |
19,650,360 (GRCm38) |
missense |
probably benign |
|
|
IGL00945:Wwp1
|
APN |
4 |
19,640,193 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01338:Wwp1
|
APN |
4 |
19,627,636 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01960:Wwp1
|
APN |
4 |
19,662,115 (GRCm38) |
splice site |
probably benign |
|
|
IGL02969:Wwp1
|
APN |
4 |
19,623,200 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03137:Wwp1
|
APN |
4 |
19,678,408 (GRCm38) |
missense |
probably damaging |
0.97 |
|
BB008:Wwp1
|
UTSW |
4 |
19,650,114 (GRCm38) |
critical splice donor site |
probably null |
|
|
BB018:Wwp1
|
UTSW |
4 |
19,650,114 (GRCm38) |
critical splice donor site |
probably null |
|
|
PIT4243001:Wwp1
|
UTSW |
4 |
19,638,631 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0035:Wwp1
|
UTSW |
4 |
19,631,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0109:Wwp1
|
UTSW |
4 |
19,641,725 (GRCm38) |
intron |
probably benign |
|
|
R0240:Wwp1
|
UTSW |
4 |
19,641,734 (GRCm38) |
splice site |
probably null |
|
|
R0240:Wwp1
|
UTSW |
4 |
19,641,734 (GRCm38) |
splice site |
probably null |
|
|
R0391:Wwp1
|
UTSW |
4 |
19,627,911 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0464:Wwp1
|
UTSW |
4 |
19,638,763 (GRCm38) |
intron |
probably benign |
|
|
R1604:Wwp1
|
UTSW |
4 |
19,659,709 (GRCm38) |
missense |
probably benign |
|
|
R1716:Wwp1
|
UTSW |
4 |
19,659,698 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1778:Wwp1
|
UTSW |
4 |
19,627,892 (GRCm38) |
nonsense |
probably null |
|
|
R1832:Wwp1
|
UTSW |
4 |
19,650,197 (GRCm38) |
missense |
probably benign |
0.33 |
|
R2073:Wwp1
|
UTSW |
4 |
19,662,181 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R2094:Wwp1
|
UTSW |
4 |
19,650,390 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2228:Wwp1
|
UTSW |
4 |
19,641,745 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2229:Wwp1
|
UTSW |
4 |
19,641,745 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2267:Wwp1
|
UTSW |
4 |
19,638,618 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2334:Wwp1
|
UTSW |
4 |
19,662,032 (GRCm38) |
missense |
probably benign |
0.07 |
|
R2349:Wwp1
|
UTSW |
4 |
19,638,644 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R3761:Wwp1
|
UTSW |
4 |
19,631,085 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4062:Wwp1
|
UTSW |
4 |
19,638,644 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4731:Wwp1
|
UTSW |
4 |
19,661,990 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4732:Wwp1
|
UTSW |
4 |
19,661,990 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4733:Wwp1
|
UTSW |
4 |
19,661,990 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4838:Wwp1
|
UTSW |
4 |
19,662,143 (GRCm38) |
missense |
probably benign |
0.31 |
|
R4936:Wwp1
|
UTSW |
4 |
19,638,804 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5262:Wwp1
|
UTSW |
4 |
19,631,057 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5340:Wwp1
|
UTSW |
4 |
19,638,773 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5847:Wwp1
|
UTSW |
4 |
19,662,174 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6492:Wwp1
|
UTSW |
4 |
19,650,299 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6602:Wwp1
|
UTSW |
4 |
19,641,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6628:Wwp1
|
UTSW |
4 |
19,661,963 (GRCm38) |
splice site |
probably null |
|
|
R7017:Wwp1
|
UTSW |
4 |
19,623,124 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7195:Wwp1
|
UTSW |
4 |
19,627,908 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R7276:Wwp1
|
UTSW |
4 |
19,611,782 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7450:Wwp1
|
UTSW |
4 |
19,640,016 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7488:Wwp1
|
UTSW |
4 |
19,627,660 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7617:Wwp1
|
UTSW |
4 |
19,662,188 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7707:Wwp1
|
UTSW |
4 |
19,627,645 (GRCm38) |
missense |
probably benign |
0.31 |
|
R7812:Wwp1
|
UTSW |
4 |
19,639,991 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7864:Wwp1
|
UTSW |
4 |
19,635,328 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7931:Wwp1
|
UTSW |
4 |
19,650,114 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8851:Wwp1
|
UTSW |
4 |
19,643,437 (GRCm38) |
missense |
probably null |
1.00 |
|
R8910:Wwp1
|
UTSW |
4 |
19,627,741 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R9020:Wwp1
|
UTSW |
4 |
19,650,282 (GRCm38) |
missense |
probably benign |
|
|
R9417:Wwp1
|
UTSW |
4 |
19,662,215 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R9736:Wwp1
|
UTSW |
4 |
19,631,202 (GRCm38) |
missense |
probably damaging |
0.99 |
|
X0018:Wwp1
|
UTSW |
4 |
19,640,261 (GRCm38) |
missense |
probably benign |
0.41 |
|
X0062:Wwp1
|
UTSW |
4 |
19,638,794 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGGATAAGTGACTGTTCTTAAC -3'
(R):5'- CTCGACTTCCAATTGCACTAGC -3'
Sequencing Primer
(F):5'- CAGGAATGAAATTTGAGCCCTCTGC -3'
(R):5'- TAGCACCACCACCCAAGAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation