Incidental Mutation 'R6492:Wwp1'
| ID |
522945 |
| 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 |
044624-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6492 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
19608303-19708993 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 19650299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 289
(S289L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035982]
[ENSMUST00000108246]
[ENSMUST00000108250]
|
| AlphaFold |
Q8BZZ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035982
AA Change: S289L
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041627
Gene: ENSMUSG00000041058
AA Change: S289L
| 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: S289L
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103881
Gene: ENSMUSG00000041058
AA Change: S289L
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
| Validation Efficiency |
100% (60/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,631,464 (GRCm39) |
T587I |
probably benign |
Het |
| Abl1 |
T |
A |
2: 31,691,667 (GRCm39) |
M1062K |
probably benign |
Het |
| Agbl4 |
G |
A |
4: 111,404,469 (GRCm39) |
D272N |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,058,261 (GRCm39) |
I2215F |
probably damaging |
Het |
| Atp10b |
A |
T |
11: 43,109,784 (GRCm39) |
Q821H |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,678,729 (GRCm39) |
Y971C |
probably damaging |
Het |
| Atp6ap1l |
A |
T |
13: 91,031,841 (GRCm39) |
H280Q |
probably damaging |
Het |
| B4galt2 |
A |
T |
4: 117,734,164 (GRCm39) |
M291K |
probably damaging |
Het |
| Cachd1 |
G |
T |
4: 100,809,315 (GRCm39) |
V267F |
possibly damaging |
Het |
| Cadm2 |
G |
T |
16: 66,581,715 (GRCm39) |
L188M |
probably damaging |
Het |
| Ccn6 |
C |
T |
10: 39,030,983 (GRCm39) |
G180D |
probably benign |
Het |
| Ceacam19 |
T |
C |
7: 19,616,517 (GRCm39) |
N199S |
probably benign |
Het |
| Chrna5 |
A |
G |
9: 54,905,347 (GRCm39) |
D53G |
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,663,059 (GRCm39) |
T597S |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,746,476 (GRCm39) |
M279K |
probably benign |
Het |
| Cngb1 |
T |
A |
8: 95,991,052 (GRCm39) |
M717L |
probably benign |
Het |
| Cp |
T |
C |
3: 20,036,186 (GRCm39) |
V777A |
probably benign |
Het |
| Drosha |
A |
G |
15: 12,861,792 (GRCm39) |
D594G |
probably benign |
Het |
| Exo5 |
A |
G |
4: 120,778,734 (GRCm39) |
|
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gprc5b |
A |
G |
7: 118,583,800 (GRCm39) |
I23T |
possibly damaging |
Het |
| Ikbke |
T |
C |
1: 131,186,955 (GRCm39) |
Y579C |
probably damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,201 (GRCm39) |
Y362C |
probably damaging |
Het |
| Itfg1 |
A |
G |
8: 86,466,978 (GRCm39) |
V365A |
probably benign |
Het |
| Josd2 |
T |
C |
7: 44,120,578 (GRCm39) |
I105T |
probably damaging |
Het |
| Mc3r |
G |
A |
2: 172,091,074 (GRCm39) |
A99T |
possibly damaging |
Het |
| Mettl22 |
T |
A |
16: 8,306,755 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
A |
G |
1: 127,399,301 (GRCm39) |
I619V |
probably benign |
Het |
| Nin |
T |
C |
12: 70,101,308 (GRCm39) |
I430V |
probably benign |
Het |
| Or52n2c |
C |
A |
7: 104,574,852 (GRCm39) |
A40S |
possibly damaging |
Het |
| Or5au1 |
A |
G |
14: 52,272,902 (GRCm39) |
F222S |
probably benign |
Het |
| Or5j3 |
T |
C |
2: 86,128,990 (GRCm39) |
F277L |
probably benign |
Het |
| Or5w22 |
C |
G |
2: 87,363,085 (GRCm39) |
A236G |
possibly damaging |
Het |
| Or8k3 |
T |
A |
2: 86,058,731 (GRCm39) |
I195F |
possibly damaging |
Het |
| Parvb |
T |
C |
15: 84,188,073 (GRCm39) |
L272P |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,149,649 (GRCm39) |
K180E |
possibly damaging |
Het |
| Pik3c3 |
C |
T |
18: 30,457,615 (GRCm39) |
T736M |
probably damaging |
Het |
| Plcb4 |
C |
T |
2: 135,814,991 (GRCm39) |
R760* |
probably null |
Het |
| Pramel6 |
C |
T |
2: 87,340,766 (GRCm39) |
T366I |
probably benign |
Het |
| Prr29 |
C |
T |
11: 106,266,062 (GRCm39) |
R42W |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,241,048 (GRCm39) |
I81V |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,649,478 (GRCm39) |
T294A |
probably benign |
Het |
| Ptprc |
A |
T |
1: 138,041,300 (GRCm39) |
|
probably null |
Het |
| Sin3b |
T |
A |
8: 73,460,118 (GRCm39) |
|
probably null |
Het |
| Slco5a1 |
T |
C |
1: 13,060,151 (GRCm39) |
Y190C |
probably damaging |
Het |
| Slco6c1 |
T |
G |
1: 97,053,538 (GRCm39) |
Y121S |
probably damaging |
Het |
| Srcap |
G |
T |
7: 127,121,317 (GRCm39) |
G217* |
probably null |
Het |
| Ss18 |
A |
T |
18: 14,784,145 (GRCm39) |
M181K |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,385,809 (GRCm39) |
T176A |
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,955,971 (GRCm39) |
E579G |
probably damaging |
Het |
| Taf7 |
A |
G |
18: 37,776,159 (GRCm39) |
I136T |
probably damaging |
Het |
| Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
| Tyrp1 |
A |
G |
4: 80,759,018 (GRCm39) |
D297G |
probably null |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Xbp1 |
T |
C |
11: 5,471,005 (GRCm39) |
V4A |
probably benign |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zbtb2 |
T |
C |
10: 4,319,711 (GRCm39) |
Y105C |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 45,000,508 (GRCm39) |
|
probably benign |
Het |
| Zkscan8 |
A |
T |
13: 21,709,397 (GRCm39) |
I167N |
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 |
|
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 |
|
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'- ATGGCAAAGCTTCTGTGTTG -3'
(R):5'- GGTACGTTATTCAGTTTGAATAGGC -3'
Sequencing Primer
(F):5'- CAAAGCTTCTGTGTTGGTGTTTCC -3'
(R):5'- TGATTAGGTAATTGAGTCACAGGTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation