Mutagenetix > Incidental Mutation

Incidental Mutation 'R7348:Wwox'

570361

Institutional Source

Beutler Lab

Gene Symbol

Wwox

Ensembl Gene

ENSMUSG00000004637

Gene Name

WW domain-containing oxidoreductase

Synonyms

WOX1, 9030416C10Rik, 5330426P09Rik

MMRRC Submission

045380-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.907) question?

Stock #

R7348 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115166395-116079447 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 115199392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 146 (C146S)

Ref Sequence

ENSEMBL: ENSMUSP00000104735 (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
AA Change: C146S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000104735
Gene: ENSMUSG00000004637
AA Change: C146S

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

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	G	A	15: 41,729,555 (GRCm39)	R282C	probably damaging	Het
Adcy2	T	A	13: 68,882,794 (GRCm39)	E314D	possibly damaging	Het
Adgrl2	A	T	3: 148,523,402 (GRCm39)	I274N		Het
Adpgk	A	G	9: 59,221,069 (GRCm39)	I292V	probably benign	Het
Agtrap	G	T	4: 148,165,054 (GRCm39)	F124L	probably benign	Het
Ankrd26	A	G	6: 118,485,525 (GRCm39)	Y1450H	probably damaging	Het
Ap4e1	A	T	2: 126,903,896 (GRCm39)	S933C	probably damaging	Het
Ap4e1	G	T	2: 126,903,897 (GRCm39)	S933I	possibly damaging	Het
Ap5s1	A	T	2: 131,054,572 (GRCm39)	T128S	possibly damaging	Het
Arih1	T	C	9: 59,393,341 (GRCm39)	Y97C	probably damaging	Het
Atp1a3	A	G	7: 24,678,251 (GRCm39)	F1034S	unknown	Het
Bmp6	T	C	13: 38,669,879 (GRCm39)	S388P	probably benign	Het
Ccdc39	A	G	3: 33,886,825 (GRCm39)	V261A	possibly damaging	Het
Ccdc66	C	T	14: 27,222,293 (GRCm39)	C150Y	probably damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cln6	A	G	9: 62,756,458 (GRCm39)	S201G	probably benign	Het
Cntnap4	T	C	8: 113,391,909 (GRCm39)	Y125H	probably damaging	Het
Copa	A	G	1: 171,929,790 (GRCm39)	T286A	possibly damaging	Het
Cul9	A	T	17: 46,821,919 (GRCm39)	I1852K	possibly damaging	Het
Cyp2j8	C	A	4: 96,332,877 (GRCm39)	A490S	probably benign	Het
Cyp2t4	A	G	7: 26,856,676 (GRCm39)	I239V	probably benign	Het
Dpcd	A	G	19: 45,560,905 (GRCm39)	Y111C	probably damaging	Het
E2f7	C	T	10: 110,616,836 (GRCm39)	T692I	probably damaging	Het
Fastkd5	A	G	2: 130,457,055 (GRCm39)	Y512H	probably damaging	Het
Fastkd5	A	C	2: 130,458,359 (GRCm39)	M77R	probably benign	Het
Fhod3	A	G	18: 25,223,524 (GRCm39)	R957G	possibly damaging	Het
H6pd	C	A	4: 150,068,359 (GRCm39)		probably null	Het
Haus5	G	T	7: 30,356,391 (GRCm39)	P544Q	possibly damaging	Het
Ifi207	CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	1: 173,556,762 (GRCm39)		probably benign	Het
Igf2r	A	G	17: 12,922,371 (GRCm39)	Y1248H	probably damaging	Het
Izumo3	T	C	4: 92,035,455 (GRCm39)	N6S	possibly damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Map3k8	T	A	18: 4,340,561 (GRCm39)	H251L	probably damaging	Het
Mapre3	T	C	5: 31,019,173 (GRCm39)	Y6H	probably benign	Het
Mlh3	G	T	12: 85,314,215 (GRCm39)	P657Q	probably damaging	Het
Mrgpra1	T	C	7: 46,985,157 (GRCm39)	Y174C	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myh1	C	A	11: 67,093,365 (GRCm39)	P152Q	probably damaging	Het
Myh6	A	T	14: 55,189,716 (GRCm39)	L1110Q	probably damaging	Het
Nf1	T	A	11: 79,427,676 (GRCm39)	S1778T	probably benign	Het
Nkpd1	G	A	7: 19,258,341 (GRCm39)	E707K	probably damaging	Het
Nlrp4a	A	G	7: 26,143,698 (GRCm39)	E21G	probably damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Or2f1	T	C	6: 42,721,790 (GRCm39)	L273S	possibly damaging	Het
Or5p1	T	C	7: 107,916,920 (GRCm39)	V273A	possibly damaging	Het
Or5p64	T	C	7: 107,855,330 (GRCm39)	D5G	probably benign	Het
Or7a38	A	G	10: 78,753,396 (GRCm39)	T241A	probably damaging	Het
Parg	G	A	14: 31,972,036 (GRCm39)	R677Q	possibly damaging	Het
Pcsk5	A	T	19: 17,434,182 (GRCm39)	C1395*	probably null	Het
Psd2	G	A	18: 36,113,389 (GRCm39)	S287N	possibly damaging	Het
Psd3	T	C	8: 68,243,583 (GRCm39)	N685S	possibly damaging	Het
Pygb	C	T	2: 150,628,903 (GRCm39)	T39M	probably benign	Het
Rbfox1	C	A	16: 7,225,888 (GRCm39)	Y351*	probably null	Het
Rftn1	A	G	17: 50,311,351 (GRCm39)	L396P	probably damaging	Het
S1pr1	A	G	3: 115,505,710 (GRCm39)	Y295H	probably damaging	Het
Scn5a	T	C	9: 119,364,899 (GRCm39)	M440V	probably benign	Het
Sel1l2	T	C	2: 140,107,644 (GRCm39)	N240S	probably benign	Het
Skic3	T	C	13: 76,331,003 (GRCm39)	F1478L	possibly damaging	Het
Skint1	T	C	4: 111,878,770 (GRCm39)	L234P	probably damaging	Het
Skint11	T	A	4: 114,101,919 (GRCm39)	Y311N	probably benign	Het
Slc6a5	A	T	7: 49,559,915 (GRCm39)		probably benign	Het
Tas2r134	T	C	2: 51,518,414 (GRCm39)	S298P	possibly damaging	Het
Tbcd	C	A	11: 121,485,137 (GRCm39)	A773D	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tmem184a	T	C	5: 139,799,809 (GRCm39)	E24G	probably null	Het
Tmem207	C	A	16: 26,335,577 (GRCm39)	W53C	possibly damaging	Het
Tns1	T	A	1: 73,956,076 (GRCm39)	H549L	possibly damaging	Het
Ttc41	G	T	10: 86,586,212 (GRCm39)	E839*	probably null	Het
Ufd1	T	G	16: 18,634,635 (GRCm39)		probably benign	Het
Usp28	A	G	9: 48,942,177 (GRCm39)	E713G	probably benign	Het
Utrn	A	G	10: 12,623,762 (GRCm39)	W159R	probably damaging	Het
Vcl	C	T	14: 21,053,218 (GRCm39)	A411V	probably benign	Het
Vcl	T	A	14: 21,059,020 (GRCm39)	C545*	probably null	Het
Vmn1r120	A	T	7: 20,787,377 (GRCm39)	S111R	probably damaging	Het
Zbtb2	T	C	10: 4,324,574 (GRCm39)	T57A	possibly damaging	Het
Zfp362	T	C	4: 128,671,010 (GRCm39)	D336G	possibly damaging	Het
Zfp628	G	A	7: 4,924,817 (GRCm39)	G1013E	probably damaging	Het
Zfp704	A	G	3: 9,539,658 (GRCm39)	S231P	probably damaging	Het
Zhx3	G	T	2: 160,624,038 (GRCm39)	S43*	probably null	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
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'- ATCCCAGGCCATTGGTTGTTAC -3'
(R):5'- AACATTCACGGGCCATGTTTTC -3'

Sequencing Primer
(F):5'- CCAGGCCATTGGTTGTTACCTTTG -3'
(R):5'- ACGGGCCATGTTTTCTTCCTTC -3'

Posted On

2019-09-13