Mutagenetix > Incidental Mutation

Incidental Mutation 'R4876:Wwox'

376877

Institutional Source

Beutler Lab

Gene Symbol

Wwox

Ensembl Gene

ENSMUSG00000004637

Gene Name

WW domain-containing oxidoreductase

Synonyms

WOX1, 9030416C10Rik, 5330426P09Rik

MMRRC Submission

042485-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.907) question?

Stock #

R4876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115166395-116079447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115174988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 107 (Y107H)

Ref Sequence

ENSEMBL: ENSMUSP00000125626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004756] [ENSMUST00000109107] [ENSMUST00000109108] [ENSMUST00000160862]

AlphaFold

Q91WL8

Predicted Effect

probably damaging
Transcript: ENSMUST00000004756
AA Change: Y107H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000004756
Gene: ENSMUSG00000004637
AA Change: Y107H

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: ENSMUST00000109107
AA Change: Y107H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104735
Gene: ENSMUSG00000004637
AA Change: Y107H

Domain	Start	End	E-Value	Type
WW	17	49	3.31e-9	SMART
WW	58	90	5.76e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109108
AA Change: Y107H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104736
Gene: ENSMUSG00000004637
AA Change: Y107H

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: ENSMUST00000160005

Predicted Effect

probably damaging
Transcript: ENSMUST00000160862
AA Change: Y107H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125626
Gene: ENSMUSG00000004637
AA Change: Y107H

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: ENSMUST00000161753

Meta Mutation Damage Score

0.6114

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

99% (97/98)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,667,536 (GRCm39)	F309S	unknown	Het
A630001G21Rik	C	T	1: 85,646,761 (GRCm39)	V167M	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano4	A	G	10: 88,948,697 (GRCm39)	F138L	probably damaging	Het
Aoc1	T	C	6: 48,883,681 (GRCm39)	V519A	possibly damaging	Het
Arhgef37	A	T	18: 61,631,310 (GRCm39)	Y558*	probably null	Het
Atxn3	T	A	12: 101,914,638 (GRCm39)	S29C	probably damaging	Het
Bbs2	T	C	8: 94,796,788 (GRCm39)		probably benign	Het
Bicral	A	T	17: 47,136,502 (GRCm39)	I236N	probably damaging	Het
Cabcoco1	A	G	10: 68,377,599 (GRCm39)	V30A	probably benign	Het
Cap2	A	G	13: 46,684,497 (GRCm39)	M1V	probably null	Het
Ccdc153	T	C	9: 44,152,305 (GRCm39)	M1T	probably null	Het
Ccnf	A	T	17: 24,449,311 (GRCm39)	V489D	probably damaging	Het
Cdin1	A	C	2: 115,500,539 (GRCm39)	H159P	probably damaging	Het
Cntnap3	T	C	13: 64,935,520 (GRCm39)	T448A	probably benign	Het
Cpa4	G	A	6: 30,590,814 (GRCm39)	D371N	probably benign	Het
Csl	T	A	10: 99,594,402 (GRCm39)	Y221F	possibly damaging	Het
Dalrd3	T	C	9: 108,448,635 (GRCm39)		probably benign	Het
Dennd4a	T	A	9: 64,803,872 (GRCm39)	N1070K	probably benign	Het
Dipk2a	C	T	9: 94,419,630 (GRCm39)	R100H	probably damaging	Het
Dmwd	A	T	7: 18,814,472 (GRCm39)	D374V	probably damaging	Het
Eea1	G	T	10: 95,831,475 (GRCm39)	A189S	probably benign	Het
Fasn	A	G	11: 120,703,138 (GRCm39)	V1629A	probably damaging	Het
Fcgbpl1	A	T	7: 27,842,225 (GRCm39)		probably benign	Het
Fndc1	T	C	17: 7,990,471 (GRCm39)	D1075G	unknown	Het
Fsip2	A	G	2: 82,805,202 (GRCm39)	N507S	possibly damaging	Het
Gabra5	T	G	7: 57,063,413 (GRCm39)	E337A	probably damaging	Het
Gsg1l	A	G	7: 125,490,841 (GRCm39)	Y288H	probably benign	Het
H2-M11	A	T	17: 36,858,401 (GRCm39)	D65V	probably benign	Het
Hmgxb3	A	T	18: 61,279,606 (GRCm39)	C736S	possibly damaging	Het
Hsd3b3	A	T	3: 98,649,960 (GRCm39)	I121N	probably damaging	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Il16	A	C	7: 83,322,302 (GRCm39)	S338A	probably benign	Het
Itpr1	G	A	6: 108,459,867 (GRCm39)	A2054T	probably damaging	Het
Lamp3	T	A	16: 19,474,220 (GRCm39)	I385F	probably damaging	Het
Limch1	G	A	5: 67,039,270 (GRCm39)	V66I	possibly damaging	Het
Lmod2	A	G	6: 24,604,278 (GRCm39)	R418G	probably benign	Het
Ly6g6c	A	T	17: 35,288,416 (GRCm39)	D96V	probably damaging	Het
Map2k2	G	A	10: 80,950,947 (GRCm39)	V131M	probably damaging	Het
Mapk9	T	C	11: 49,745,152 (GRCm39)	V22A	probably damaging	Het
Mettl2	T	C	11: 105,019,894 (GRCm39)	I177T	probably damaging	Het
Mob4	C	T	1: 55,191,995 (GRCm39)		probably benign	Het
Mybpc1	A	T	10: 88,372,286 (GRCm39)	N781K	probably benign	Het
Mybpc1	T	C	10: 88,358,853 (GRCm39)	I1113V	probably benign	Het
Myom1	A	G	17: 71,384,405 (GRCm39)	T707A	probably damaging	Het
Ncam2	G	A	16: 81,287,234 (GRCm39)	A383T	probably benign	Het
Nomo1	T	C	7: 45,715,915 (GRCm39)	S761P	probably damaging	Het
Nsd3	T	A	8: 26,181,161 (GRCm39)	S921T	possibly damaging	Het
Omp	A	T	7: 97,794,233 (GRCm39)	D131E	probably benign	Het
Or10d1c	A	T	9: 38,893,922 (GRCm39)	C139*	probably null	Het
Or4f7d-ps1	C	G	2: 111,675,040 (GRCm39)		noncoding transcript	Het
Or8d4	C	T	9: 40,038,514 (GRCm39)	V248I	probably damaging	Het
Pard3	T	C	8: 128,287,950 (GRCm39)		probably benign	Het
Parg	A	G	14: 31,993,625 (GRCm39)	T286A	probably damaging	Het
Parp1	T	A	1: 180,396,600 (GRCm39)	M1K	probably null	Het
Pclo	T	A	5: 14,861,694 (GRCm39)	S4882R	unknown	Het
Pcnx2	C	T	8: 126,498,847 (GRCm39)	E1551K	probably damaging	Het
Pcyox1l	A	G	18: 61,832,565 (GRCm39)	Y161H	probably damaging	Het
Pdzd8	A	T	19: 59,289,236 (GRCm39)	C721*	probably null	Het
Piwil4	T	C	9: 14,651,761 (GRCm39)	D90G	probably benign	Het
Plxdc2	T	A	2: 16,708,129 (GRCm39)	C306S	probably damaging	Het
Plxna2	T	A	1: 194,326,083 (GRCm39)	F6I	probably benign	Het
Prkaa1	T	C	15: 5,203,886 (GRCm39)	M265T	probably benign	Het
Prrc2b	T	C	2: 32,104,212 (GRCm39)	V1230A	probably benign	Het
Rfx2	T	C	17: 57,091,706 (GRCm39)	E329G	probably benign	Het
Scg2	T	C	1: 79,413,636 (GRCm39)	I322M	probably damaging	Het
Scly	T	A	1: 91,247,850 (GRCm39)	N399K	probably damaging	Het
Sec23b	T	A	2: 144,428,281 (GRCm39)		probably null	Het
Sephs2	A	T	7: 126,872,219 (GRCm39)	Y291*	probably null	Het
Slc45a3	T	C	1: 131,909,285 (GRCm39)	I494T	possibly damaging	Het
Slc6a21	C	A	7: 44,929,535 (GRCm39)	Y76*	probably null	Het
Slfn14	T	A	11: 83,167,098 (GRCm39)	I806L	possibly damaging	Het
Slfn4	T	A	11: 83,077,844 (GRCm39)	S211T	probably benign	Het
Sptbn4	A	G	7: 27,071,577 (GRCm39)	V1624A	probably damaging	Het
Sugp1	T	A	8: 70,523,834 (GRCm39)	M567K	probably damaging	Het
Tmem121	A	T	12: 113,152,348 (GRCm39)	M189L	probably benign	Het
Tmem201	A	G	4: 149,806,727 (GRCm39)	S444P	probably damaging	Het
Tmem63a	T	C	1: 180,800,751 (GRCm39)	V744A	probably benign	Het
Tnrc18	G	A	5: 142,717,380 (GRCm39)	S2358F	unknown	Het
Ubash3b	A	G	9: 40,929,405 (GRCm39)	V404A	probably benign	Het
Unc13c	A	T	9: 73,656,821 (GRCm39)	C1127S	probably damaging	Het
Unc5a	T	C	13: 55,145,042 (GRCm39)	V253A	probably benign	Het
Vmn1r-ps123	C	T	13: 23,180,535 (GRCm39)		noncoding transcript	Het
Wdr74	A	G	19: 8,716,849 (GRCm39)	E253G	possibly damaging	Het
Zdhhc22	A	T	12: 87,035,012 (GRCm39)	Y147N	probably damaging	Het
Zfp131	T	C	13: 120,250,491 (GRCm39)	H44R	possibly damaging	Het
Zfp235	A	G	7: 23,840,384 (GRCm39)	T268A	probably benign	Het
Zfp280d	T	C	9: 72,206,140 (GRCm39)		probably benign	Het
Zfp358	T	C	8: 3,546,170 (GRCm39)	S251P	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
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
R7043:Wwox	UTSW	8	115,406,578 (GRCm39)	missense	probably damaging	0.97
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'- GGTGCATTGTTCCCCTGAAG -3'
(R):5'- ACAGCCTCTTTCAATTGGAGAG -3'

Sequencing Primer
(F):5'- GCATTGTTCCCCTGAAGTATTAG -3'
(R):5'- TTTCAATTGGAGAGTCACCACC -3'

Posted On

2016-03-17