Incidental Mutation 'R7043:Wwox'
| ID |
547161 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwox
|
| Ensembl Gene |
ENSMUSG00000004637 |
| Gene Name |
WW domain-containing oxidoreductase |
| Synonyms |
WOX1, 9030416C10Rik, 5330426P09Rik |
| MMRRC Submission |
045142-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.910)
|
| Stock # |
R7043 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
115166395-116079447 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 115406578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 190
(V190L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104736
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004756]
[ENSMUST00000109108]
[ENSMUST00000160862]
|
| AlphaFold |
Q91WL8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004756
AA Change: V190L
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000004756
Gene: ENSMUSG00000004637
AA Change: V190L
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
17 |
49 |
3.31e-9 |
SMART |
|
WW
|
58 |
90 |
5.76e-9 |
SMART |
|
Pfam:KR
|
125 |
267 |
3e-9 |
PFAM |
|
Pfam:adh_short
|
125 |
269 |
2.2e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109108
AA Change: V190L
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104736
Gene: ENSMUSG00000004637
AA Change: V190L
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
17 |
49 |
3.31e-9 |
SMART |
|
WW
|
58 |
90 |
5.76e-9 |
SMART |
|
Pfam:KR
|
125 |
267 |
1.4e-9 |
PFAM |
|
Pfam:adh_short
|
125 |
270 |
4e-20 |
PFAM |
|
Pfam:adh_short_C2
|
131 |
268 |
2.4e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160862
AA Change: V190L
PolyPhen 2
Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125626
Gene: ENSMUSG00000004637
AA Change: V190L
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
17 |
49 |
3.31e-9 |
SMART |
|
WW
|
58 |
90 |
5.76e-9 |
SMART |
|
Pfam:KR
|
125 |
267 |
1.3e-9 |
PFAM |
|
Pfam:adh_short
|
125 |
270 |
3.7e-20 |
PFAM |
|
Pfam:adh_short_C2
|
131 |
268 |
2.3e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous mutation of this gene results in premature death and increased incidence of tumor development. Reduced male fertility and testicular atrophy are also observed in mice with a hypomorphic allele. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,484,474 (GRCm39) |
L1596P |
probably damaging |
Het |
| Actr3b |
A |
G |
5: 26,054,936 (GRCm39) |
M329V |
probably benign |
Het |
| Avpr1a |
C |
T |
10: 122,285,586 (GRCm39) |
R293C |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,215,215 (GRCm39) |
C390S |
probably benign |
Het |
| C2cd2l |
A |
T |
9: 44,227,848 (GRCm39) |
M131K |
probably damaging |
Het |
| Ccna2 |
T |
C |
3: 36,624,302 (GRCm39) |
|
probably benign |
Het |
| Cd53 |
T |
C |
3: 106,670,577 (GRCm39) |
D152G |
probably damaging |
Het |
| Cdpf1 |
A |
T |
15: 85,692,485 (GRCm39) |
V66E |
probably null |
Het |
| Chd9 |
G |
T |
8: 91,760,843 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,818,447 (GRCm39) |
D1710G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,296,992 (GRCm39) |
T5794A |
probably damaging |
Het |
| Eif2s1 |
G |
T |
12: 78,923,882 (GRCm39) |
R113L |
probably damaging |
Het |
| Eif5 |
A |
G |
12: 111,511,030 (GRCm39) |
D423G |
probably benign |
Het |
| Eri1 |
A |
C |
8: 35,945,792 (GRCm39) |
D164E |
probably damaging |
Het |
| F7 |
A |
T |
8: 13,083,997 (GRCm39) |
R227S |
probably benign |
Het |
| Gm14496 |
T |
G |
2: 181,642,120 (GRCm39) |
I597S |
possibly damaging |
Het |
| Gpr85 |
T |
A |
6: 13,835,876 (GRCm39) |
N343Y |
probably damaging |
Het |
| H2-T23 |
A |
T |
17: 36,342,803 (GRCm39) |
S112T |
probably damaging |
Het |
| Itga9 |
C |
T |
9: 118,598,184 (GRCm39) |
P573S |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,383,150 (GRCm39) |
M159L |
probably benign |
Het |
| Kmt5b |
T |
A |
19: 3,865,220 (GRCm39) |
S738R |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,812,426 (GRCm39) |
N2393S |
possibly damaging |
Het |
| Mme |
T |
A |
3: 63,252,638 (GRCm39) |
Y427* |
probably null |
Het |
| Naip1 |
A |
G |
13: 100,563,422 (GRCm39) |
V581A |
probably damaging |
Het |
| Ndel1 |
A |
G |
11: 68,713,450 (GRCm39) |
L329P |
possibly damaging |
Het |
| Nthl1 |
T |
G |
17: 24,857,644 (GRCm39) |
V281G |
probably benign |
Het |
| Or52ab2 |
C |
A |
7: 102,970,292 (GRCm39) |
|
probably benign |
Het |
| Per2 |
G |
T |
1: 91,347,130 (GRCm39) |
H1197Q |
probably benign |
Het |
| Phf8-ps |
T |
C |
17: 33,284,306 (GRCm39) |
D832G |
possibly damaging |
Het |
| Plec |
G |
A |
15: 76,093,328 (GRCm39) |
|
probably benign |
Het |
| Prpf6 |
A |
T |
2: 181,291,297 (GRCm39) |
H704L |
probably benign |
Het |
| Recql5 |
C |
T |
11: 115,821,502 (GRCm39) |
|
probably null |
Het |
| Rimbp3 |
G |
A |
16: 17,028,972 (GRCm39) |
V799M |
probably damaging |
Het |
| Sema3f |
C |
T |
9: 107,568,599 (GRCm39) |
A169T |
possibly damaging |
Het |
| Serpinb9f |
T |
C |
13: 33,509,970 (GRCm39) |
I54T |
possibly damaging |
Het |
| Skint5 |
A |
T |
4: 113,574,304 (GRCm39) |
L749Q |
unknown |
Het |
| Slc35g3 |
T |
C |
11: 69,652,476 (GRCm39) |
D12G |
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,053,323 (GRCm39) |
V2252A |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,706,110 (GRCm39) |
N1750S |
probably damaging |
Het |
| Supt5 |
C |
A |
7: 28,019,435 (GRCm39) |
R543L |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,022,193 (GRCm39) |
E7806G |
possibly damaging |
Het |
| Syt12 |
T |
A |
19: 4,501,049 (GRCm39) |
M334L |
probably benign |
Het |
| Tk1 |
A |
G |
11: 117,706,779 (GRCm39) |
*234R |
probably null |
Het |
| Trp73 |
T |
G |
4: 154,151,464 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,727,477 (GRCm39) |
|
probably benign |
Het |
| Vmn2r11 |
T |
C |
5: 109,200,098 (GRCm39) |
I452V |
probably benign |
Het |
| Wwp2 |
A |
G |
8: 108,184,532 (GRCm39) |
H80R |
probably benign |
Het |
| Zc3h3 |
A |
G |
15: 75,681,485 (GRCm39) |
I532T |
probably damaging |
Het |
| Zfp280d |
A |
G |
9: 72,226,539 (GRCm39) |
K328E |
probably damaging |
Het |
| Zfp365 |
A |
G |
10: 67,745,656 (GRCm39) |
S41P |
probably damaging |
Het |
|
| Other mutations in Wwox |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01098:Wwox
|
APN |
8 |
115,172,118 (GRCm39) |
nonsense |
probably null |
|
|
IGL02156:Wwox
|
APN |
8 |
115,174,899 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02267:Wwox
|
APN |
8 |
115,438,805 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02346:Wwox
|
APN |
8 |
115,438,858 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02350:Wwox
|
APN |
8 |
115,438,882 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02357:Wwox
|
APN |
8 |
115,438,882 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02586:Wwox
|
APN |
8 |
115,438,947 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL02701:Wwox
|
APN |
8 |
115,433,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02743:Wwox
|
APN |
8 |
116,078,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02804:Wwox
|
APN |
8 |
115,438,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02805:Wwox
|
APN |
8 |
115,438,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0048:Wwox
|
UTSW |
8 |
115,166,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0140:Wwox
|
UTSW |
8 |
115,433,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0390:Wwox
|
UTSW |
8 |
115,433,018 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1146:Wwox
|
UTSW |
8 |
115,438,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1146:Wwox
|
UTSW |
8 |
115,438,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1193:Wwox
|
UTSW |
8 |
115,406,614 (GRCm39) |
missense |
probably benign |
|
|
R1520:Wwox
|
UTSW |
8 |
115,438,873 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1552:Wwox
|
UTSW |
8 |
115,172,090 (GRCm39) |
nonsense |
probably null |
|
|
R1628:Wwox
|
UTSW |
8 |
115,174,973 (GRCm39) |
missense |
probably benign |
|
|
R1639:Wwox
|
UTSW |
8 |
115,172,118 (GRCm39) |
nonsense |
probably null |
|
|
R3778:Wwox
|
UTSW |
8 |
115,601,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3967:Wwox
|
UTSW |
8 |
115,215,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4077:Wwox
|
UTSW |
8 |
115,166,481 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4876:Wwox
|
UTSW |
8 |
115,174,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Wwox
|
UTSW |
8 |
115,433,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5868:Wwox
|
UTSW |
8 |
115,406,586 (GRCm39) |
missense |
probably benign |
|
|
R5988:Wwox
|
UTSW |
8 |
115,433,081 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6272:Wwox
|
UTSW |
8 |
115,215,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7348:Wwox
|
UTSW |
8 |
115,199,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7815:Wwox
|
UTSW |
8 |
115,438,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8119:Wwox
|
UTSW |
8 |
115,433,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8324:Wwox
|
UTSW |
8 |
115,215,745 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8544:Wwox
|
UTSW |
8 |
115,215,646 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9065:Wwox
|
UTSW |
8 |
115,215,682 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9183:Wwox
|
UTSW |
8 |
115,433,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9187:Wwox
|
UTSW |
8 |
115,438,978 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9525:Wwox
|
UTSW |
8 |
115,433,105 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9640:Wwox
|
UTSW |
8 |
115,166,540 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACTTGGCAGTAAAAGCTG -3'
(R):5'- CCTTAACCGTACATATAAATGAGCCTC -3'
Sequencing Primer
(F):5'- GCAGTAAAAGCTGTGTTCTTCC -3'
(R):5'- ATAAATGAGCCTCTGGTGCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation