Mutagenetix > Incidental Mutation

Incidental Mutation 'R9525:Wwox'

719154

Institutional Source

Beutler Lab

Gene Symbol

Wwox

Ensembl Gene

ENSMUSG00000004637

Gene Name

WW domain-containing oxidoreductase

Synonyms

WOX1, 9030416C10Rik, 5330426P09Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.907) question?

Stock #

R9525 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115166395-116079447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115433105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 257 (V257E)

Ref Sequence

ENSEMBL: ENSMUSP00000004756 (fasta)

Gene Model

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

AlphaFold

Q91WL8

Predicted Effect

probably benign
Transcript: ENSMUST00000004756
AA Change: V257E

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000004756
Gene: ENSMUSG00000004637
AA Change: V257E

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: V257E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104736
Gene: ENSMUSG00000004637
AA Change: V257E

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: V257E

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125626
Gene: ENSMUSG00000004637
AA Change: V257E

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: 99.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	A	4: 144,282,000 (GRCm39)	D264V	possibly damaging	Het
Adgrv1	C	T	13: 81,593,453 (GRCm39)	G4178E	possibly damaging	Het
Alpk2	A	G	18: 65,399,288 (GRCm39)	Y2097H	probably damaging	Het
Anapc2	T	C	2: 25,166,339 (GRCm39)	S369P	probably damaging	Het
Atr	C	T	9: 95,792,610 (GRCm39)	A1644V	possibly damaging	Het
Camsap1	G	A	2: 25,843,962 (GRCm39)	H230Y	probably benign	Het
Cbx7	A	C	15: 79,814,797 (GRCm39)	W35G	probably damaging	Het
Cc2d2b	T	C	19: 40,773,430 (GRCm39)	Y498H	probably damaging	Het
Ccdc162	T	A	10: 41,559,222 (GRCm39)	R126W	probably damaging	Het
Cd274	T	A	19: 29,359,879 (GRCm39)	L228Q	probably benign	Het
Cfap57	A	T	4: 118,433,778 (GRCm39)	I1000N	probably damaging	Het
Cfhr4	G	T	1: 139,702,250 (GRCm39)	T78K	probably damaging	Het
Chadl	C	A	15: 81,578,220 (GRCm39)	G470C	probably damaging	Het
Clasp2	T	C	9: 113,740,677 (GRCm39)	L1217P	probably damaging	Het
Crnkl1	A	G	2: 145,770,198 (GRCm39)	V215A	probably benign	Het
Dbx2	G	T	15: 95,552,304 (GRCm39)	H114N	probably benign	Het
Ddb2	T	G	2: 91,065,180 (GRCm39)	T82P	probably benign	Het
Emc8	T	C	8: 121,394,656 (GRCm39)	Y21C	probably damaging	Het
Epha1	A	T	6: 42,344,758 (GRCm39)	M66K	probably damaging	Het
Fan1	A	C	7: 64,022,007 (GRCm39)		probably null	Het
Fgd2	T	A	17: 29,583,955 (GRCm39)	L123Q	probably damaging	Het
Flnb	T	A	14: 7,905,481 (GRCm38)	V1077E	probably damaging	Het
Fnbp1l	A	T	3: 122,352,703 (GRCm39)	M251K	probably damaging	Het
Gal3st2c	T	A	1: 93,935,928 (GRCm39)	F93L	probably damaging	Het
Gdf2	T	C	14: 33,667,564 (GRCm39)	*429Q	probably null	Het
Gdpd5	A	G	7: 99,104,156 (GRCm39)	T455A	possibly damaging	Het
Gm8356	G	T	14: 17,691,339 (GRCm39)	Q109K		Het
Gpr20	A	T	15: 73,567,681 (GRCm39)	V236E	probably benign	Het
Gpr39	T	C	1: 125,800,323 (GRCm39)	V358A	probably damaging	Het
Grin1	T	C	2: 25,187,472 (GRCm39)	N613D	probably damaging	Het
H2bc15	G	T	13: 21,938,305 (GRCm39)	A5S	unknown	Het
Hepacam2	A	G	6: 3,476,046 (GRCm39)	V293A	probably benign	Het
Igf1r	G	A	7: 67,864,682 (GRCm39)	R1160Q	probably damaging	Het
Iqcd	T	C	5: 120,738,217 (GRCm39)	Y12H	probably benign	Het
Itih1	T	C	14: 30,658,711 (GRCm39)	S393G	probably benign	Het
Klhl33	T	C	14: 51,128,929 (GRCm39)	M507V	probably null	Het
Mast4	G	T	13: 102,872,944 (GRCm39)	H2141Q	probably benign	Het
Mkrn2	T	A	6: 115,587,486 (GRCm39)	D54E	probably damaging	Het
Mrm3	A	G	11: 76,141,104 (GRCm39)	T371A	possibly damaging	Het
Msantd5f3	G	A	4: 73,573,061 (GRCm39)	S100N	probably benign	Het
Mylk2	T	A	2: 152,759,552 (GRCm39)	M414K	probably damaging	Het
Nlrp4b	A	G	7: 10,448,748 (GRCm39)	E317G	probably damaging	Het
Or51b6b	A	T	7: 103,310,142 (GRCm39)	I105N	probably damaging	Het
Or51i2	A	G	7: 103,689,820 (GRCm39)	I272M	possibly damaging	Het
Or8k20	A	G	2: 86,106,484 (GRCm39)	S116P	probably benign	Het
Pcdhb18	T	A	18: 37,624,887 (GRCm39)	V739E	probably damaging	Het
Pkhd1l1	A	T	15: 44,448,322 (GRCm39)	T3834S	possibly damaging	Het
Pkp3	A	G	7: 140,668,310 (GRCm39)	D546G	probably damaging	Het
Pot1a	A	T	6: 25,745,916 (GRCm39)	M595K	probably benign	Het
Pus7l	A	G	15: 94,438,764 (GRCm39)	I27T	probably damaging	Het
Rbp3	A	G	14: 33,676,402 (GRCm39)	I117V	probably benign	Het
Rnf19a	A	T	15: 36,247,375 (GRCm39)	L454H	probably damaging	Het
Rps6kb1	C	A	11: 86,410,746 (GRCm39)	K167N	possibly damaging	Het
Saxo1	A	T	4: 86,363,186 (GRCm39)	Y432*	probably null	Het
Setdb2	A	T	14: 59,646,841 (GRCm39)	V558E	probably benign	Het
Spmap2l	A	G	5: 77,195,138 (GRCm39)	N104S	probably benign	Het
Tbck	T	C	3: 132,456,966 (GRCm39)	F627L	probably damaging	Het
Tbpl2	T	G	2: 23,986,547 (GRCm39)	M1L	probably benign	Het
Timp2	A	C	11: 118,194,678 (GRCm39)	D170E	probably benign	Het
Tomm40	A	G	7: 19,436,812 (GRCm39)	Y303H	probably damaging	Het
Trgv5	T	C	13: 19,376,885 (GRCm39)	C111R	probably damaging	Het
Trhr	T	C	15: 44,060,873 (GRCm39)	I131T	possibly damaging	Het
Vmn1r159	A	G	7: 22,542,417 (GRCm39)	V205A	probably damaging	Het
Vmn2r25	G	T	6: 123,800,164 (GRCm39)	T726K	probably damaging	Het
Xxylt1	A	G	16: 30,869,593 (GRCm39)	I169T	probably benign	Het
Zfp1007	A	T	5: 109,824,846 (GRCm39)	N201K		Het
Zfp457	T	C	13: 67,441,492 (GRCm39)	Y361C	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
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
R9640:Wwox	UTSW	8	115,166,540 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CAGGTCTCTTCACGTGCTTG -3'
(R):5'- CAGGCTGTGTACACTCATGTTTC -3'

Sequencing Primer
(F):5'- CACGTGCTTGTGTGTAATGCAG -3'
(R):5'- TCCTCTACAGATGGAGTCACAGG -3'

Posted On

2022-07-18