Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02701:Wwox'

304137

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wwox

Ensembl Gene

ENSMUSG00000004637

Gene Name

WW domain-containing oxidoreductase

Synonyms

9030416C10Rik, WOX1, 5330426P09Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.914) question?

Stock #

IGL02701

Quality Score

Status

Chromosome

Chromosomal Location

114439655-115352708 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114706368 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 258 (V258D)

Ref Sequence

ENSEMBL: ENSMUSP00000125626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004756] [ENSMUST00000109108] [ENSMUST00000160862]

AlphaFold

Q91WL8

Predicted Effect

probably damaging
Transcript: ENSMUST00000004756
AA Change: V258D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000004756
Gene: ENSMUSG00000004637
AA Change: V258D

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: V258D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104736
Gene: ENSMUSG00000004637
AA Change: V258D

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

noncoding transcript
Transcript: ENSMUST00000160205

Predicted Effect

probably damaging
Transcript: ENSMUST00000160862
AA Change: V258D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125626
Gene: ENSMUSG00000004637
AA Change: V258D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161914

Coding Region Coverage

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	A	G	5: 5,466,623		probably null	Het
4833423E24Rik	A	G	2: 85,484,169	L480P	probably damaging	Het
Arhgap21	A	G	2: 20,892,091	C125R	probably damaging	Het
Blmh	A	G	11: 76,971,910	D383G	probably benign	Het
Brca1	T	C	11: 101,525,235	E691G	probably damaging	Het
Chrm3	G	A	13: 9,878,464	R179*	probably null	Het
Cnrip1	A	G	11: 17,078,415	T116A	probably benign	Het
Csmd2	T	C	4: 128,496,141	V2223A	probably benign	Het
Dalrd3	T	A	9: 108,572,284	V143D	possibly damaging	Het
Ddx60	A	T	8: 61,979,341	I886L	probably damaging	Het
Dennd4a	T	C	9: 64,897,353	F1325L	possibly damaging	Het
Dnmt3l	A	T	10: 78,055,022	T253S	probably benign	Het
Gde1	T	A	7: 118,698,637	T9S	probably damaging	Het
Ggcx	T	A	6: 72,418,472		probably benign	Het
Gm813	G	A	16: 58,615,807	S51L	probably benign	Het
Hspg2	C	T	4: 137,557,174	A3481V	probably damaging	Het
Igf1r	T	C	7: 68,201,249	Y931H	possibly damaging	Het
Ighv12-3	A	C	12: 114,366,801	S25A	probably damaging	Het
Itga5	A	C	15: 103,347,766	C920G	probably damaging	Het
Kmt5b	A	G	19: 3,796,681	D118G	probably benign	Het
Lrp1b	T	G	2: 41,246,017	N1647T	possibly damaging	Het
Lrrc71	T	C	3: 87,741,772	E363G	probably benign	Het
Mapk1	A	G	16: 17,015,906	Y41C	probably benign	Het
Mib1	T	C	18: 10,747,357	V178A	probably damaging	Het
Olfr1022	A	G	2: 85,869,458	I289V	probably benign	Het
Olfr159	A	G	4: 43,770,366	I215T	probably benign	Het
Olfr472	A	T	7: 107,903,442	T242S	probably benign	Het
Plb1	T	C	5: 32,364,197	V1464A	unknown	Het
Plekhg5	T	C	4: 152,103,022	S82P	probably damaging	Het
Plxna4	T	C	6: 32,517,559	T41A	probably benign	Het
Ppip5k1	A	C	2: 121,316,649		probably null	Het
Rpl14	T	C	9: 120,573,573		probably benign	Het
Slc44a2	T	C	9: 21,347,951	F554L	probably benign	Het
Slco1b2	T	A	6: 141,685,545	V635E	probably benign	Het
Sv2a	T	A	3: 96,187,131	C261S	probably damaging	Het
Thbs2	T	C	17: 14,683,361	I353V	probably benign	Het
Tspan4	G	A	7: 141,492,028	V205M	probably damaging	Het
Vezf1	A	T	11: 88,076,221	R93*	probably null	Het
Zmynd12	G	T	4: 119,444,755		probably benign	Het

Other mutations in Wwox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:Wwox	APN	8	114445378	nonsense	probably null
IGL02156:Wwox	APN	8	114448159	critical splice acceptor site	probably null
IGL02267:Wwox	APN	8	114712065	missense	probably benign	0.23
IGL02346:Wwox	APN	8	114712118	missense	probably benign	0.11
IGL02350:Wwox	APN	8	114712142	missense	possibly damaging	0.81
IGL02357:Wwox	APN	8	114712142	missense	possibly damaging	0.81
IGL02586:Wwox	APN	8	114712207	missense	possibly damaging	0.59
IGL02743:Wwox	APN	8	115351704	missense	probably damaging	1.00
IGL02804:Wwox	APN	8	114712013	missense	probably damaging	1.00
IGL02805:Wwox	APN	8	114712013	missense	probably damaging	1.00
R0048:Wwox	UTSW	8	114439830	missense	probably damaging	1.00
R0140:Wwox	UTSW	8	114706287	missense	probably damaging	1.00
R0390:Wwox	UTSW	8	114706278	missense	probably benign	0.08
R1146:Wwox	UTSW	8	114712036	missense	probably damaging	1.00
R1146:Wwox	UTSW	8	114712036	missense	probably damaging	1.00
R1193:Wwox	UTSW	8	114679874	missense	probably benign
R1520:Wwox	UTSW	8	114712133	missense	probably benign	0.36
R1552:Wwox	UTSW	8	114445350	nonsense	probably null
R1628:Wwox	UTSW	8	114448233	missense	probably benign
R1639:Wwox	UTSW	8	114445378	nonsense	probably null
R3778:Wwox	UTSW	8	114874607	missense	probably benign	0.00
R3967:Wwox	UTSW	8	114488933	missense	probably damaging	1.00
R4077:Wwox	UTSW	8	114439741	utr 5 prime	probably benign
R4876:Wwox	UTSW	8	114448248	missense	probably damaging	1.00
R4936:Wwox	UTSW	8	114706358	missense	probably benign	0.00
R5868:Wwox	UTSW	8	114679846	missense	probably benign
R5988:Wwox	UTSW	8	114706341	missense	probably benign	0.06
R6272:Wwox	UTSW	8	114488952	missense	probably damaging	1.00
R7043:Wwox	UTSW	8	114679838	missense	probably damaging	0.97
R7348:Wwox	UTSW	8	114472652	missense	probably benign	0.00
R7815:Wwox	UTSW	8	114712036	missense	probably damaging	1.00
R8119:Wwox	UTSW	8	114706368	missense	probably damaging	1.00
R8324:Wwox	UTSW	8	114489005	critical splice donor site	probably null
R8544:Wwox	UTSW	8	114488906	missense	probably benign	0.08
R9065:Wwox	UTSW	8	114488942	missense	probably benign	0.05
R9183:Wwox	UTSW	8	114706370	missense	probably damaging	1.00
R9187:Wwox	UTSW	8	114712238	missense	probably damaging	0.97
R9525:Wwox	UTSW	8	114706365	missense	probably benign	0.11
R9640:Wwox	UTSW	8	114439800	missense	possibly damaging	0.83

Posted On

2015-04-16