Incidental Mutation 'R1832:Wwp1'
| ID |
204849 |
| 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 |
039859-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1832 (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 19650197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 323
(D323G)
|
| 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: D323G
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058
AA Change: D323G
| 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: D323G
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058
AA Change: D323G
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.6%
- 20x: 90.7%
|
| Validation Efficiency |
100% (82/82) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,350,509 (GRCm39) |
D143V |
unknown |
Het |
| Abca8a |
A |
T |
11: 109,962,277 (GRCm39) |
N525K |
probably damaging |
Het |
| Abhd12 |
T |
A |
2: 150,690,338 (GRCm39) |
D119V |
probably damaging |
Het |
| Adamts20 |
A |
T |
15: 94,184,225 (GRCm39) |
M1526K |
probably benign |
Het |
| Ankdd1a |
A |
T |
9: 65,411,771 (GRCm39) |
|
probably null |
Het |
| Ankrd1 |
C |
T |
19: 36,092,378 (GRCm39) |
C283Y |
possibly damaging |
Het |
| Arfgef1 |
G |
C |
1: 10,275,115 (GRCm39) |
I312M |
probably benign |
Het |
| Bhlhe22 |
G |
A |
3: 18,109,139 (GRCm39) |
C63Y |
probably damaging |
Het |
| Bmp8a |
A |
T |
4: 123,218,885 (GRCm39) |
|
probably benign |
Het |
| Ccdc148 |
A |
T |
2: 58,891,911 (GRCm39) |
S235T |
probably damaging |
Het |
| Ccdc88b |
G |
A |
19: 6,830,900 (GRCm39) |
Q681* |
probably null |
Het |
| Cep104 |
T |
A |
4: 154,087,003 (GRCm39) |
V842E |
probably benign |
Het |
| Chac2 |
T |
C |
11: 30,927,568 (GRCm39) |
N117S |
probably benign |
Het |
| Cimap3 |
C |
T |
3: 105,921,912 (GRCm39) |
E4K |
possibly damaging |
Het |
| Cldn8 |
T |
A |
16: 88,359,746 (GRCm39) |
I60F |
probably benign |
Het |
| Col16a1 |
G |
A |
4: 129,970,850 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
A |
G |
8: 11,264,644 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
G |
T |
7: 26,011,635 (GRCm39) |
E285D |
probably damaging |
Het |
| Cyp4a31 |
G |
A |
4: 115,426,928 (GRCm39) |
G176D |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,368,233 (GRCm39) |
Y246D |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,580,493 (GRCm39) |
K118R |
probably damaging |
Het |
| Dync2i1 |
T |
A |
12: 116,171,363 (GRCm39) |
S958C |
probably damaging |
Het |
| Eif3h |
T |
C |
15: 51,728,832 (GRCm39) |
T8A |
possibly damaging |
Het |
| Fbh1 |
G |
T |
2: 11,772,211 (GRCm39) |
L157I |
probably benign |
Het |
| Fbxo40 |
C |
A |
16: 36,789,218 (GRCm39) |
G631* |
probably null |
Het |
| Gabrb1 |
T |
A |
5: 72,279,281 (GRCm39) |
|
probably null |
Het |
| Galc |
A |
G |
12: 98,200,499 (GRCm39) |
|
probably null |
Het |
| Garin2 |
G |
A |
12: 78,762,280 (GRCm39) |
|
probably benign |
Het |
| H2-Q7 |
C |
A |
17: 35,658,675 (GRCm39) |
S104R |
probably benign |
Het |
| Igkv13-54-1 |
A |
T |
6: 69,594,277 (GRCm39) |
M31L |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,041,933 (GRCm39) |
R67Q |
possibly damaging |
Het |
| Lcn10 |
A |
G |
2: 25,575,151 (GRCm39) |
D173G |
probably damaging |
Het |
| Llgl2 |
G |
T |
11: 115,741,926 (GRCm39) |
R656L |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Lrrc66 |
G |
A |
5: 73,764,769 (GRCm39) |
S758L |
possibly damaging |
Het |
| Ly6d |
T |
C |
15: 74,634,615 (GRCm39) |
K46E |
probably damaging |
Het |
| Map3k5 |
A |
G |
10: 19,975,306 (GRCm39) |
N88D |
probably damaging |
Het |
| Mertk |
A |
T |
2: 128,604,132 (GRCm39) |
E422V |
probably benign |
Het |
| Mixl1 |
A |
G |
1: 180,522,296 (GRCm39) |
V195A |
probably benign |
Het |
| Nmnat3 |
T |
C |
9: 98,281,521 (GRCm39) |
V41A |
probably damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,319 (GRCm39) |
N38K |
probably damaging |
Het |
| Or2a7 |
A |
G |
6: 43,151,834 (GRCm39) |
R305G |
probably benign |
Het |
| Or7g34 |
A |
G |
9: 19,478,492 (GRCm39) |
Y63H |
possibly damaging |
Het |
| Pappa2 |
T |
A |
1: 158,684,886 (GRCm39) |
E751V |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,635,189 (GRCm39) |
S355G |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,390,134 (GRCm39) |
V821A |
probably damaging |
Het |
| Plxna4 |
A |
C |
6: 32,174,761 (GRCm39) |
D1109E |
probably benign |
Het |
| Ppard |
A |
G |
17: 28,516,084 (GRCm39) |
M103V |
probably benign |
Het |
| Pramel51 |
T |
C |
12: 88,145,218 (GRCm39) |
E44G |
possibly damaging |
Het |
| Ralgapa1 |
T |
C |
12: 55,804,752 (GRCm39) |
T515A |
probably benign |
Het |
| Rin2 |
A |
G |
2: 145,703,091 (GRCm39) |
I596V |
possibly damaging |
Het |
| Rnls |
A |
G |
19: 33,145,895 (GRCm39) |
S75P |
possibly damaging |
Het |
| Rsph10b |
A |
T |
5: 143,903,997 (GRCm39) |
Y236F |
possibly damaging |
Het |
| Runx1t1 |
C |
T |
4: 13,835,628 (GRCm39) |
|
probably benign |
Het |
| Sardh |
A |
G |
2: 27,125,581 (GRCm39) |
V311A |
possibly damaging |
Het |
| Sbno2 |
G |
T |
10: 79,896,439 (GRCm39) |
Y889* |
probably null |
Het |
| Sclt1 |
A |
G |
3: 41,681,546 (GRCm39) |
V91A |
probably damaging |
Het |
| Sema4g |
T |
A |
19: 44,987,456 (GRCm39) |
V534E |
probably benign |
Het |
| Shoc1 |
T |
G |
4: 59,066,441 (GRCm39) |
I768L |
probably benign |
Het |
| Slc10a1 |
G |
A |
12: 81,000,446 (GRCm39) |
S351F |
probably benign |
Het |
| Slc19a3 |
A |
T |
1: 83,000,468 (GRCm39) |
V183E |
probably damaging |
Het |
| Slc25a12 |
A |
G |
2: 71,164,054 (GRCm39) |
Y74H |
possibly damaging |
Het |
| Slc6a19 |
T |
A |
13: 73,841,069 (GRCm39) |
I114L |
probably benign |
Het |
| Smpd2 |
A |
T |
10: 41,364,232 (GRCm39) |
C189S |
probably benign |
Het |
| Spon1 |
T |
A |
7: 113,616,018 (GRCm39) |
V295D |
probably benign |
Het |
| Tet3 |
A |
G |
6: 83,380,627 (GRCm39) |
S514P |
probably benign |
Het |
| Tnk1 |
T |
C |
11: 69,747,754 (GRCm39) |
I49M |
probably damaging |
Het |
| Trim80 |
A |
G |
11: 115,337,619 (GRCm39) |
T431A |
probably benign |
Het |
| Vgf |
A |
T |
5: 137,060,153 (GRCm39) |
Q105L |
possibly damaging |
Het |
| Vmn1r37 |
G |
T |
6: 66,708,780 (GRCm39) |
L135F |
probably benign |
Het |
| Vps37d |
C |
T |
5: 135,102,594 (GRCm39) |
A128T |
possibly damaging |
Het |
| Zfp456 |
T |
A |
13: 67,515,482 (GRCm39) |
I75L |
probably benign |
Het |
| Zfp990 |
A |
G |
4: 145,264,780 (GRCm39) |
I593V |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCGGATAAGTGACTGTTC -3'
(R):5'- CCTCGACTTCCAATTGCACTAG -3'
Sequencing Primer
(F):5'- CAGGAATGAAATTTGAGCCCTCTGC -3'
(R):5'- TAGCACCACCACCCAAGAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation