Mutagenetix > Incidental Mutation

Incidental Mutation 'R3778:Wwox'

473534

Institutional Source

Beutler Lab

Gene Symbol

Wwox

Ensembl Gene

ENSMUSG00000004637

Gene Name

WW domain-containing oxidoreductase

Synonyms

WOX1, 9030416C10Rik, 5330426P09Rik

MMRRC Submission

040750-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.907) question?

Stock #

R3778 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115166395-116079447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115601347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 355 (C355R)

Ref Sequence

ENSEMBL: ENSMUSP00000104736 (fasta)

Gene Model

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

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: ENSMUST00000109108
AA Change: C355R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104736
Gene: ENSMUSG00000004637
AA Change: C355R

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: ENSMUST00000159870

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162052

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,618,846 (GRCm39)	L769H	probably damaging	Het
Aldh1a7	A	T	19: 20,696,675 (GRCm39)	M106K	possibly damaging	Het
Ankfn1	G	T	11: 89,332,220 (GRCm39)	P442Q	probably damaging	Het
Aox1	A	C	1: 58,092,862 (GRCm39)	D158A	possibly damaging	Het
Apc	A	G	18: 34,446,134 (GRCm39)	N976S	probably damaging	Het
Cfap54	C	T	10: 92,740,206 (GRCm39)		probably benign	Het
Cldn1	C	T	16: 26,190,216 (GRCm39)	C54Y	probably damaging	Het
Col22a1	A	T	15: 71,845,541 (GRCm39)	I407N	probably damaging	Het
Cyp2e1	T	C	7: 140,343,822 (GRCm39)	V20A	possibly damaging	Het
Erp27	A	T	6: 136,896,901 (GRCm39)	N100K	possibly damaging	Het
Fbn1	C	T	2: 125,159,006 (GRCm39)	C2253Y	probably damaging	Het
Fhip1b	T	A	7: 105,037,435 (GRCm39)	T383S	probably damaging	Het
Flnb	G	A	14: 7,915,353 (GRCm38)	V1495I	probably benign	Het
Fscn3	A	C	6: 28,430,031 (GRCm39)	K67T	possibly damaging	Het
Gls	A	G	1: 52,208,071 (GRCm39)	V571A	probably benign	Het
Gm14569	T	A	X: 35,696,085 (GRCm39)	M875L	probably benign	Het
Gm4871	A	G	5: 144,966,893 (GRCm39)	S197P	probably damaging	Het
Gm7104	A	T	12: 88,252,441 (GRCm39)		noncoding transcript	Het
Gp9	A	T	6: 87,755,987 (GRCm39)	M1L	probably benign	Het
Greb1l	T	A	18: 10,469,444 (GRCm39)	L153H	possibly damaging	Het
H1f8	T	C	6: 115,926,708 (GRCm39)		probably null	Het
Hadha	A	T	5: 30,325,127 (GRCm39)	C688S	probably damaging	Het
Hif1an	A	G	19: 44,557,847 (GRCm39)	D243G	probably damaging	Het
Hmcn1	A	T	1: 150,678,575 (GRCm39)	D515E	possibly damaging	Het
Hsfy2	A	T	1: 56,675,847 (GRCm39)	V230E	possibly damaging	Het
Ighv1-72	A	T	12: 115,721,636 (GRCm39)	S107T	probably damaging	Het
Inpp4b	T	A	8: 82,768,621 (GRCm39)	V710D	possibly damaging	Het
Itpr3	A	G	17: 27,314,446 (GRCm39)	D632G	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lrig2	A	G	3: 104,365,277 (GRCm39)	I625T	probably benign	Het
Lrp2	A	T	2: 69,339,548 (GRCm39)	M1121K	probably benign	Het
Man2b2	T	C	5: 36,972,871 (GRCm39)	N548D	probably benign	Het
Mei1	T	C	15: 81,966,209 (GRCm39)	L277P	probably damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mycbp2	T	A	14: 103,434,721 (GRCm39)	I2241F	probably damaging	Het
Nalcn	G	A	14: 123,702,128 (GRCm39)	T461M	probably damaging	Het
Ncoa6	A	G	2: 155,263,115 (GRCm39)	S440P	probably damaging	Het
Ncoa7	A	G	10: 30,565,752 (GRCm39)	Y632H	probably damaging	Het
Notch2	T	C	3: 98,053,939 (GRCm39)	S2201P	probably damaging	Het
Or10c1	T	C	17: 37,522,649 (GRCm39)	T32A	probably benign	Het
Or5p52	C	A	7: 107,501,954 (GRCm39)	A10E	probably benign	Het
Pard6g	A	T	18: 80,123,038 (GRCm39)		probably null	Het
Pask	T	A	1: 93,255,189 (GRCm39)	I294F	probably damaging	Het
Pax9	A	G	12: 56,743,533 (GRCm39)	Y60C	probably damaging	Het
Pcdh15	G	A	10: 73,782,983 (GRCm39)		probably null	Het
Pik3c2g	A	T	6: 139,599,385 (GRCm39)	Y167F	probably damaging	Het
Ppfibp2	A	G	7: 107,328,396 (GRCm39)	T476A	probably benign	Het
Ppm1e	T	C	11: 87,139,754 (GRCm39)		probably null	Het
Rsph14	T	G	10: 74,793,420 (GRCm39)	Q360P	possibly damaging	Het
Rsph14	C	G	10: 74,793,419 (GRCm39)	Q360H	possibly damaging	Het
Sec24c	A	G	14: 20,733,375 (GRCm39)	Q234R	possibly damaging	Het
Shcbp1	A	T	8: 4,786,295 (GRCm39)	N602K	probably benign	Het
Sirt5	A	G	13: 43,536,583 (GRCm39)		probably null	Het
Slc66a1	T	C	4: 139,026,293 (GRCm39)		probably null	Het
Sp8	G	T	12: 118,812,750 (GRCm39)	V202L	possibly damaging	Het
Tle6	G	T	10: 81,431,987 (GRCm39)	P86T	probably benign	Het
Tmem235	A	T	11: 117,753,126 (GRCm39)	H83L	probably benign	Het
Trappc10	A	G	10: 78,036,636 (GRCm39)	V861A	possibly damaging	Het
Trpm2	A	C	10: 77,771,824 (GRCm39)	L605R	probably benign	Het
Vat1l	T	C	8: 114,963,540 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,821,941 (GRCm39)	D174A	possibly damaging	Het
Zfp229	A	T	17: 21,964,183 (GRCm39)	T138S	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
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
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

Posted On

2017-04-14