Incidental Mutation 'R1604:Wwp1'
| ID |
176317 |
| 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 |
039641-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1604 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
19608303-19708993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 19659709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 193
(V193A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035982]
[ENSMUST00000108246]
|
| AlphaFold |
Q8BZZ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035982
AA Change: V193A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058
AA Change: V193A
| 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: V193A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058
AA Change: V193A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.1%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldoart2 |
A |
G |
12: 55,612,405 (GRCm39) |
D110G |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,133,785 (GRCm39) |
M369T |
possibly damaging |
Het |
| Anks3 |
C |
T |
16: 4,766,117 (GRCm39) |
V151M |
probably damaging |
Het |
| Arl6ip6 |
T |
C |
2: 53,082,508 (GRCm39) |
L125P |
probably damaging |
Het |
| Bmp1 |
T |
C |
14: 70,745,444 (GRCm39) |
Q247R |
possibly damaging |
Het |
| Ccdc30 |
A |
G |
4: 119,188,793 (GRCm39) |
I491T |
probably damaging |
Het |
| Cdhr1 |
T |
A |
14: 36,817,050 (GRCm39) |
I104F |
probably benign |
Het |
| Cdk17 |
G |
T |
10: 93,068,360 (GRCm39) |
M372I |
probably damaging |
Het |
| Cyp2c54 |
A |
G |
19: 40,058,787 (GRCm39) |
V215A |
probably benign |
Het |
| D430041D05Rik |
T |
A |
2: 104,035,487 (GRCm39) |
I1614F |
probably damaging |
Het |
| Ddx55 |
A |
G |
5: 124,697,369 (GRCm39) |
N244D |
probably damaging |
Het |
| Dop1b |
G |
T |
16: 93,559,458 (GRCm39) |
V617F |
probably benign |
Het |
| Erbb4 |
G |
T |
1: 68,385,728 (GRCm39) |
A287E |
possibly damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Gad2 |
T |
C |
2: 22,513,852 (GRCm39) |
|
probably null |
Het |
| Gm17421 |
G |
A |
12: 113,333,155 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9894 |
T |
A |
13: 67,913,008 (GRCm39) |
|
noncoding transcript |
Het |
| Gnpat |
T |
C |
8: 125,603,700 (GRCm39) |
S193P |
probably damaging |
Het |
| Gpr20 |
C |
T |
15: 73,567,853 (GRCm39) |
V179M |
probably damaging |
Het |
| Hdgf |
T |
A |
3: 87,821,347 (GRCm39) |
|
probably null |
Het |
| Itgb8 |
A |
T |
12: 119,166,265 (GRCm39) |
L89M |
probably damaging |
Het |
| Lnx2 |
T |
C |
5: 146,966,135 (GRCm39) |
D328G |
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,049,305 (GRCm39) |
T341A |
possibly damaging |
Het |
| Map1b |
A |
G |
13: 99,566,080 (GRCm39) |
S2214P |
unknown |
Het |
| Mms22l |
T |
C |
4: 24,502,804 (GRCm39) |
F131L |
probably damaging |
Het |
| Msmo1 |
A |
G |
8: 65,180,689 (GRCm39) |
I75T |
probably damaging |
Het |
| Or10d1c |
A |
T |
9: 38,893,914 (GRCm39) |
M142K |
probably benign |
Het |
| Or2a56 |
G |
A |
6: 42,932,650 (GRCm39) |
A73T |
possibly damaging |
Het |
| Or51k1 |
G |
T |
7: 103,661,162 (GRCm39) |
A249E |
probably damaging |
Het |
| Or8c13 |
A |
G |
9: 38,091,645 (GRCm39) |
V158A |
probably benign |
Het |
| Or8d2 |
T |
G |
9: 38,760,000 (GRCm39) |
F197V |
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,330,763 (GRCm39) |
R113* |
probably null |
Het |
| Polr2m |
T |
C |
9: 71,390,959 (GRCm39) |
D81G |
probably damaging |
Het |
| Ppp1r15b |
T |
A |
1: 133,060,287 (GRCm39) |
M268K |
probably benign |
Het |
| Ptprcap |
T |
A |
19: 4,206,073 (GRCm39) |
L52* |
probably null |
Het |
| Rasgrp2 |
C |
T |
19: 6,457,087 (GRCm39) |
T277I |
possibly damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,831,310 (GRCm39) |
N286D |
probably damaging |
Het |
| Scml2 |
G |
T |
X: 160,014,442 (GRCm39) |
E566D |
possibly damaging |
Het |
| Scrib |
A |
C |
15: 75,920,089 (GRCm39) |
S1557A |
probably damaging |
Het |
| Sergef |
C |
A |
7: 46,092,783 (GRCm39) |
V409L |
probably benign |
Het |
| Shisal1 |
T |
C |
15: 84,290,672 (GRCm39) |
M212V |
probably benign |
Het |
| Slc6a13 |
A |
G |
6: 121,309,328 (GRCm39) |
M280V |
probably benign |
Het |
| Slc9a8 |
C |
T |
2: 167,313,352 (GRCm39) |
P409S |
probably benign |
Het |
| Smarca4 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
9: 21,612,239 (GRCm39) |
|
probably benign |
Het |
| Spc25 |
T |
C |
2: 69,035,498 (GRCm39) |
D4G |
probably damaging |
Het |
| Specc1 |
C |
T |
11: 61,933,883 (GRCm39) |
R88C |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,724,948 (GRCm39) |
|
probably null |
Het |
| Stt3b |
T |
C |
9: 115,079,995 (GRCm39) |
E639G |
probably damaging |
Het |
| Sult3a1 |
A |
C |
10: 33,742,616 (GRCm39) |
E81A |
probably damaging |
Het |
| Taf1b |
G |
A |
12: 24,606,623 (GRCm39) |
G481D |
probably benign |
Het |
| Tgm4 |
T |
C |
9: 122,874,129 (GRCm39) |
V123A |
probably benign |
Het |
| Tie1 |
G |
T |
4: 118,331,604 (GRCm39) |
H973N |
probably damaging |
Het |
| Tmem117 |
C |
T |
15: 94,992,425 (GRCm39) |
R362W |
probably damaging |
Het |
| Txnip |
A |
T |
3: 96,466,277 (GRCm39) |
Q107L |
probably benign |
Het |
| Ubap2 |
C |
T |
4: 41,199,872 (GRCm39) |
A752T |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,837,780 (GRCm39) |
V1628A |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,564,245 (GRCm39) |
M139K |
probably benign |
Het |
| Zcchc8 |
C |
T |
5: 123,838,721 (GRCm39) |
A606T |
probably benign |
Het |
| Zfp131 |
G |
A |
13: 120,230,316 (GRCm39) |
L371F |
probably damaging |
Het |
| Zfp518b |
T |
C |
5: 38,830,949 (GRCm39) |
D352G |
probably damaging |
Het |
| Zfp784 |
A |
G |
7: 5,039,453 (GRCm39) |
|
probably benign |
Het |
| Zfp940 |
A |
T |
7: 29,545,500 (GRCm39) |
F136I |
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 |
|
|
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 |
|
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'- AAGAGTCAGGGTTACCCGTGTCAC -3'
(R):5'- GCCTATACACACTCAGCATCCTTGC -3'
Sequencing Primer
(F):5'- ACTGGTGGGCGCAGATG -3'
(R):5'- CCAGTGTGGACACTTATCATTGAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation