Mutagenetix > Incidental Mutation

Incidental Mutation 'R4077:Wwox'

316625

Institutional Source

Beutler Lab

Gene Symbol

Wwox

Ensembl Gene

ENSMUSG00000004637

Gene Name

WW domain-containing oxidoreductase

Synonyms

WOX1, 9030416C10Rik, 5330426P09Rik

MMRRC Submission

041622-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.907) question?

Stock #

R4077 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

115166395-116079447 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 115166481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125626 (fasta)

Gene Model

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

AlphaFold

Q91WL8

Predicted Effect

probably benign
Transcript: ENSMUST00000004756

SMART Domains

Protein: ENSMUSP00000004756
Gene: ENSMUSG00000004637

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 benign
Transcript: ENSMUST00000109107

SMART Domains

Protein: ENSMUSP00000104735
Gene: ENSMUSG00000004637

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109108

SMART Domains

Protein: ENSMUSP00000104736
Gene: ENSMUSG00000004637

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 benign
Transcript: ENSMUST00000160862

SMART Domains

Protein: ENSMUSP00000125626
Gene: ENSMUSG00000004637

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: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (81/82)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	A	2: 150,690,379 (GRCm39)		probably null	Het
Adam33	T	C	2: 130,905,444 (GRCm39)		probably benign	Het
Adrm1b	A	C	3: 92,336,195 (GRCm39)		probably benign	Het
Akap8	C	T	17: 32,531,272 (GRCm39)	R380Q	probably damaging	Het
Arhgef12	T	C	9: 42,886,588 (GRCm39)	M1131V	probably damaging	Het
Atrn	T	C	2: 130,806,850 (GRCm39)		probably null	Het
Btaf1	A	G	19: 36,963,879 (GRCm39)	T817A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,169,236 (GRCm39)	V293A	probably benign	Het
Cdk11b	C	T	4: 155,724,204 (GRCm39)		probably benign	Het
Cdnf	A	G	2: 3,522,060 (GRCm39)	Y84C	probably damaging	Het
Chdh	T	C	14: 29,757,297 (GRCm39)	S407P	probably damaging	Het
Cmtr1	C	A	17: 29,904,949 (GRCm39)	T300K	probably damaging	Het
Dennd2d	A	T	3: 106,389,939 (GRCm39)		probably benign	Het
Diaph1	T	A	18: 37,986,636 (GRCm39)	E1116D	possibly damaging	Het
Eif1ad3	A	G	12: 87,843,401 (GRCm39)	K16R	unknown	Het
Eif1ad3	A	T	12: 87,843,710 (GRCm39)	D119V	possibly damaging	Het
Enpp1	A	G	10: 24,544,905 (GRCm39)		probably null	Het
Erbb4	T	C	1: 68,079,496 (GRCm39)	T1195A	probably benign	Het
Ermard	T	A	17: 15,273,638 (GRCm39)	S408T	probably benign	Het
Etl4	A	T	2: 20,812,772 (GRCm39)	R1442S	probably damaging	Het
F13b	T	A	1: 139,429,508 (GRCm39)	F9I	unknown	Het
Fnbp4	C	T	2: 90,588,821 (GRCm39)	R531*	probably null	Het
Gdf6	A	G	4: 9,844,776 (GRCm39)	Y100C	probably damaging	Het
Gpr3	T	C	4: 132,938,226 (GRCm39)	T149A	probably damaging	Het
Grm8	T	C	6: 27,760,208 (GRCm39)	H374R	probably benign	Het
Hbs1l	T	C	10: 21,228,501 (GRCm39)	V493A	probably damaging	Het
Hgs	A	G	11: 120,368,202 (GRCm39)	K277E	probably damaging	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hoxa11	A	T	6: 52,222,504 (GRCm39)	Y66N	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Igdcc4	T	A	9: 65,039,047 (GRCm39)	L944Q	probably damaging	Het
Ighv3-1	C	A	12: 113,928,107 (GRCm39)	S84I	probably damaging	Het
Iqgap2	T	C	13: 95,794,375 (GRCm39)	D1199G	probably damaging	Het
Kcnk10	A	T	12: 98,401,205 (GRCm39)	M490K	probably benign	Het
Kirrel1	A	G	3: 86,992,387 (GRCm39)		probably null	Het
Lias	A	T	5: 65,552,768 (GRCm39)	T124S	probably benign	Het
Lrig3	A	C	10: 125,845,656 (GRCm39)	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Lrrc37a	T	A	11: 103,388,808 (GRCm39)	T2206S	unknown	Het
Macf1	T	A	4: 123,365,884 (GRCm39)	Q2959L	probably benign	Het
Mis12	A	G	11: 70,916,134 (GRCm39)	T56A	probably benign	Het
Or10ag56	T	A	2: 87,139,208 (GRCm39)	M25K	probably null	Het
Or1l4	T	A	2: 37,092,024 (GRCm39)	I257N	possibly damaging	Het
Or4k41	A	G	2: 111,279,848 (GRCm39)	D121G	probably damaging	Het
Or5b99	T	C	19: 12,977,235 (GRCm39)	V295A	probably damaging	Het
Otof	A	T	5: 30,576,850 (GRCm39)	L134Q	possibly damaging	Het
Pds5b	T	A	5: 150,717,824 (GRCm39)	V1155E	possibly damaging	Het
Pdss2	A	T	10: 43,278,518 (GRCm39)	M342L	probably benign	Het
Phyhipl	C	T	10: 70,404,903 (GRCm39)	V57I	probably damaging	Het
Plekha5	T	A	6: 140,501,647 (GRCm39)		probably null	Het
Pnck	A	T	X: 72,701,761 (GRCm39)	V93E	probably damaging	Het
Proser1	A	G	3: 53,385,962 (GRCm39)	T615A	probably damaging	Het
Ptprk	G	A	10: 28,139,508 (GRCm39)	V78I	probably benign	Het
Ptprv	A	G	1: 135,038,168 (GRCm39)		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,838 (GRCm39)	N233S	probably damaging	Het
Rassf2	G	A	2: 131,854,522 (GRCm39)	P7S	probably benign	Het
Sart1	A	T	19: 5,432,771 (GRCm39)	L521Q	possibly damaging	Het
Scgb1b21	T	A	7: 33,227,118 (GRCm39)		noncoding transcript	Het
Scyl2	A	T	10: 89,476,458 (GRCm39)	M889K	probably benign	Het
Secisbp2l	A	G	2: 125,593,785 (GRCm39)		probably benign	Het
Svil	A	G	18: 5,063,522 (GRCm39)	E931G	probably benign	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tdrd1	A	G	19: 56,819,505 (GRCm39)	M2V	probably benign	Het
Tjp2	A	T	19: 24,086,182 (GRCm39)	V780E	possibly damaging	Het
Tram1	A	G	1: 13,636,599 (GRCm39)	V358A	probably benign	Het
Unc13c	C	T	9: 73,643,821 (GRCm39)	W1214*	probably null	Het
Vps13b	T	C	15: 35,455,274 (GRCm39)	C728R	probably damaging	Het
Zbtb41	G	A	1: 139,357,064 (GRCm39)	V440I	probably benign	Het
Zfp777	T	C	6: 48,002,456 (GRCm39)	S589G	probably benign	Het
Zfp955a	A	G	17: 33,460,675 (GRCm39)	Y486H	probably benign	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
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
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'- AGTTTCTGAGCCGTTCCTGC -3'
(R):5'- TTGACCCAGATCCCCTAATAACGG -3'

Sequencing Primer
(F):5'- CACGGCCGTTCCATCTC -3'
(R):5'- ATTTCGGATGCGCATGCC -3'

Posted On

2015-05-15