Incidental Mutation 'R9417:Wwp1'
| ID |
712088 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9417 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
19608303-19708993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 19662215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 127
(N127Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035982]
[ENSMUST00000108246]
|
| AlphaFold |
Q8BZZ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035982
AA Change: N127Y
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058
AA Change: N127Y
| 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 |
possibly damaging
Transcript: ENSMUST00000108246
AA Change: N127Y
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058
AA Change: N127Y
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
A |
G |
4: 88,786,202 (GRCm39) |
Y139H |
unknown |
Het |
| Akr1b10 |
T |
C |
6: 34,371,027 (GRCm39) |
V259A |
probably benign |
Het |
| Aldh5a1 |
A |
T |
13: 25,095,673 (GRCm39) |
N481K |
probably damaging |
Het |
| Ankrd26 |
A |
T |
6: 118,504,725 (GRCm39) |
M728K |
possibly damaging |
Het |
| Asic1 |
A |
G |
15: 99,590,405 (GRCm39) |
M52V |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cacna2d2 |
C |
A |
9: 107,392,689 (GRCm39) |
Y544* |
probably null |
Het |
| Cdcp3 |
A |
G |
7: 130,852,218 (GRCm39) |
D818G |
possibly damaging |
Het |
| Chd4 |
A |
G |
6: 125,097,688 (GRCm39) |
N1403S |
probably damaging |
Het |
| Cldn4 |
G |
T |
5: 134,975,174 (GRCm39) |
N142K |
probably benign |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Dll1 |
T |
C |
17: 15,593,710 (GRCm39) |
Y219C |
probably damaging |
Het |
| Dnah2 |
T |
A |
11: 69,326,990 (GRCm39) |
I3539F |
probably damaging |
Het |
| Egfr |
T |
A |
11: 16,825,067 (GRCm39) |
L469* |
probably null |
Het |
| Elmo1 |
A |
G |
13: 20,756,573 (GRCm39) |
N554D |
possibly damaging |
Het |
| Fam234a |
A |
C |
17: 26,435,225 (GRCm39) |
F306L |
probably benign |
Het |
| Fbl |
G |
A |
7: 27,874,052 (GRCm39) |
G45D |
unknown |
Het |
| Fbxw10 |
C |
A |
11: 62,753,522 (GRCm39) |
C505* |
probably null |
Het |
| Ftcd |
G |
A |
10: 76,417,153 (GRCm39) |
G221S |
probably damaging |
Het |
| Gad1 |
A |
G |
2: 70,417,716 (GRCm39) |
D305G |
possibly damaging |
Het |
| Gdpd4 |
A |
G |
7: 97,607,074 (GRCm39) |
D16G |
probably benign |
Het |
| Gsdmc3 |
T |
A |
15: 63,738,663 (GRCm39) |
D133V |
possibly damaging |
Het |
| Hpdl |
T |
C |
4: 116,677,817 (GRCm39) |
T215A |
possibly damaging |
Het |
| Ift56 |
T |
C |
6: 38,386,386 (GRCm39) |
F369S |
probably damaging |
Het |
| Igsf10 |
A |
T |
3: 59,236,526 (GRCm39) |
N1218K |
possibly damaging |
Het |
| Isg20 |
C |
T |
7: 78,569,605 (GRCm39) |
P192L |
probably benign |
Het |
| Itga7 |
C |
T |
10: 128,793,543 (GRCm39) |
T126M |
unknown |
Het |
| Krr1 |
A |
G |
10: 111,813,026 (GRCm39) |
I134V |
probably benign |
Het |
| Krt71 |
T |
A |
15: 101,646,731 (GRCm39) |
T326S |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,337,983 (GRCm39) |
V480E |
probably damaging |
Het |
| Mmp19 |
T |
A |
10: 128,630,523 (GRCm39) |
L102Q |
possibly damaging |
Het |
| Mtor |
T |
A |
4: 148,622,776 (GRCm39) |
L1952* |
probably null |
Het |
| Myo15a |
T |
A |
11: 60,378,243 (GRCm39) |
V215E |
|
Het |
| Nfs1 |
T |
A |
2: 155,965,851 (GRCm39) |
K77* |
probably null |
Het |
| Or52s1 |
A |
T |
7: 102,861,156 (GRCm39) |
I30F |
possibly damaging |
Het |
| Or9a4 |
T |
A |
6: 40,549,096 (GRCm39) |
Y259N |
|
Het |
| Pcdhga4 |
T |
C |
18: 37,820,560 (GRCm39) |
F703S |
probably damaging |
Het |
| Pdzd7 |
A |
G |
19: 45,034,022 (GRCm39) |
S21P |
probably damaging |
Het |
| Pitrm1 |
A |
T |
13: 6,617,394 (GRCm39) |
I583F |
possibly damaging |
Het |
| Ppox |
A |
G |
1: 171,107,855 (GRCm39) |
L77P |
unknown |
Het |
| Ppp1r37 |
G |
T |
7: 19,269,658 (GRCm39) |
R114S |
probably damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,144,598 (GRCm39) |
V316A |
probably benign |
Het |
| Ptprd |
A |
G |
4: 75,865,335 (GRCm39) |
I1214T |
probably damaging |
Het |
| Rasal3 |
A |
G |
17: 32,615,441 (GRCm39) |
F466L |
probably benign |
Het |
| Ric8b |
A |
T |
10: 84,761,447 (GRCm39) |
D41V |
probably benign |
Het |
| Rin2 |
T |
C |
2: 145,686,713 (GRCm39) |
S81P |
probably benign |
Het |
| Sft2d1 |
T |
A |
17: 8,542,139 (GRCm39) |
C128S |
probably damaging |
Het |
| Skint1 |
T |
C |
4: 111,878,509 (GRCm39) |
V147A |
probably benign |
Het |
| Slc9c1 |
T |
C |
16: 45,413,848 (GRCm39) |
V992A |
probably benign |
Het |
| Sst |
A |
G |
16: 23,708,487 (GRCm39) |
S115P |
probably damaging |
Het |
| Sv2b |
G |
T |
7: 74,769,772 (GRCm39) |
S590Y |
probably damaging |
Het |
| Syne1 |
C |
T |
10: 5,082,021 (GRCm39) |
V868I |
probably benign |
Het |
| Tex35 |
T |
C |
1: 156,934,789 (GRCm39) |
I42V |
possibly damaging |
Het |
| Tlr2 |
T |
C |
3: 83,744,892 (GRCm39) |
N397S |
probably damaging |
Het |
| Tmem202 |
A |
G |
9: 59,431,999 (GRCm39) |
|
probably null |
Het |
| Usp20 |
A |
G |
2: 30,873,030 (GRCm39) |
|
probably null |
Het |
| Usp32 |
C |
T |
11: 84,885,369 (GRCm39) |
R1226Q |
probably damaging |
Het |
| Usp47 |
C |
T |
7: 111,688,801 (GRCm39) |
A736V |
possibly damaging |
Het |
| Vmn2r-ps117 |
T |
A |
17: 19,044,037 (GRCm39) |
L371* |
probably null |
Het |
| Yae1d1 |
A |
T |
13: 18,167,770 (GRCm39) |
V41D |
probably damaging |
Het |
| Zbtb8b |
T |
C |
4: 129,326,517 (GRCm39) |
D216G |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,016,988 (GRCm39) |
S903P |
probably benign |
Het |
| Zranb1 |
G |
A |
7: 132,585,466 (GRCm39) |
G638D |
probably 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 |
|
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 |
|
|
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'- GGAAAGAAAGCAACTCAGTTTCTAC -3'
(R):5'- GAGTCACTCAGCTAAGCAGG -3'
Sequencing Primer
(F):5'- AAGCAACTCAGTTTCTACATACTTC -3'
(R):5'- TCACTCAGCTAAGCAGGAATAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation