Mutagenetix > Incidental Mutation

Incidental Mutation 'R8324:Wwox'

643990

Institutional Source

Beutler Lab

Gene Symbol

Wwox

Ensembl Gene

ENSMUSG00000004637

Gene Name

WW domain-containing oxidoreductase

Synonyms

WOX1, 9030416C10Rik, 5330426P09Rik

MMRRC Submission

067725-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.910) question?

Stock #

R8324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115166395-116079447 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 115215745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000004756 (fasta)

Gene Model

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

AlphaFold

Q91WL8

Predicted Effect

probably null
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 null
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 null
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: 99.9%
10x: 99.6%
20x: 98.6%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,240,395 (GRCm39)	S753P	probably damaging	Het
Acan	A	G	7: 78,740,804 (GRCm39)	E390G	probably damaging	Het
Antxr2	T	C	5: 98,086,368 (GRCm39)	N413S	probably damaging	Het
Bace2	C	T	16: 97,158,108 (GRCm39)	A36V	possibly damaging	Het
Caprin1	G	A	2: 103,613,526 (GRCm39)	R79*	probably null	Het
Cdan1	A	G	2: 120,557,806 (GRCm39)	V507A	probably benign	Het
Cdkl3	T	A	11: 51,913,706 (GRCm39)		probably null	Het
Chst5	A	T	8: 112,617,140 (GRCm39)	L160Q	probably benign	Het
Col11a1	C	G	3: 113,958,059 (GRCm39)	P1111R	probably damaging	Het
Col6a6	T	A	9: 105,632,853 (GRCm39)	E1470D	probably benign	Het
Cpped1	T	A	16: 11,623,340 (GRCm39)	T274S	probably benign	Het
Ctnnbl1	G	A	2: 157,621,735 (GRCm39)	E75K	probably damaging	Het
Cyp4f40	T	C	17: 32,878,502 (GRCm39)	S15P	probably benign	Het
Ddx46	T	C	13: 55,811,727 (GRCm39)	S643P	probably damaging	Het
Defb34	A	G	8: 19,173,814 (GRCm39)	Q16R	probably null	Het
Dhrs2	T	A	14: 55,476,221 (GRCm39)	V147E	probably damaging	Het
Dnah5	G	T	15: 28,347,011 (GRCm39)	R2498L	probably damaging	Het
Dpp10	T	A	1: 123,781,901 (GRCm39)	I93F	probably benign	Het
Eef1e1	T	A	13: 38,839,045 (GRCm39)	D104V	probably damaging	Het
Egfr	A	G	11: 16,808,971 (GRCm39)	Y55C	probably damaging	Het
Egfr	A	C	11: 16,858,885 (GRCm39)	I955L	probably damaging	Het
Ehbp1l1	C	A	19: 5,770,026 (GRCm39)	V426F	possibly damaging	Het
Elp1	C	T	4: 56,772,491 (GRCm39)	E877K	probably damaging	Het
Fam234a	C	T	17: 26,437,672 (GRCm39)	V108I	probably benign	Het
Fzd8	T	A	18: 9,214,688 (GRCm39)	M590K	probably damaging	Het
Gm13287	T	C	4: 88,721,875 (GRCm39)	S129P	probably damaging	Het
Heatr5b	A	G	17: 79,062,793 (GRCm39)	S1919P	possibly damaging	Het
Hspg2	C	G	4: 137,246,290 (GRCm39)	P1023A	possibly damaging	Het
Itpr2	T	C	6: 146,229,896 (GRCm39)	E1233G	probably damaging	Het
Kcnmb4	A	G	10: 116,254,219 (GRCm39)	L186P	probably damaging	Het
Krt72	T	A	15: 101,690,580 (GRCm39)	Y224F	probably damaging	Het
Loxhd1	T	C	18: 77,427,275 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,079,506 (GRCm39)	T914A	probably benign	Het
Lrrtm4	A	G	6: 79,998,974 (GRCm39)	T129A	probably damaging	Het
Mmp13	A	T	9: 7,276,636 (GRCm39)	I244F	possibly damaging	Het
Mob1a	T	A	6: 83,306,956 (GRCm39)	L41Q	probably damaging	Het
Mtcl1	T	C	17: 66,743,212 (GRCm39)	R426G	probably damaging	Het
Mybbp1a	T	C	11: 72,336,114 (GRCm39)		probably null	Het
Myh9	A	G	15: 77,673,117 (GRCm39)		probably null	Het
Myo1d	T	A	11: 80,448,347 (GRCm39)	D926V	probably damaging	Het
Ncapg	T	G	5: 45,853,010 (GRCm39)	H825Q	probably damaging	Het
Olfml1	T	C	7: 107,189,570 (GRCm39)	S212P	probably benign	Het
Or52p1	G	A	7: 104,267,321 (GRCm39)	R145H	probably benign	Het
Pak2	T	C	16: 31,871,029 (GRCm39)	N51S	probably benign	Het
Papln	T	C	12: 83,833,393 (GRCm39)	Y1132H	probably damaging	Het
Pax3	T	A	1: 78,170,426 (GRCm39)	R134S	probably damaging	Het
Pdzrn4	A	G	15: 92,668,818 (GRCm39)	E990G	probably damaging	Het
Peak1	A	T	9: 56,114,760 (GRCm39)	W1394R	probably damaging	Het
Pkn2	T	C	3: 142,534,771 (GRCm39)	N285D	probably benign	Het
Pramel13	A	C	4: 144,122,427 (GRCm39)	L39R	probably damaging	Het
Prrc2a	A	G	17: 35,375,960 (GRCm39)	S897P	possibly damaging	Het
Rad51	A	G	2: 118,954,312 (GRCm39)	T131A	possibly damaging	Het
Rc3h2	T	A	2: 37,290,738 (GRCm39)	T255S	possibly damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rictor	T	A	15: 6,775,043 (GRCm39)	V125E	probably damaging	Het
Rps6ka5	C	T	12: 100,524,746 (GRCm39)	D664N	possibly damaging	Het
Rreb1	T	A	13: 38,131,597 (GRCm39)	W1584R	probably damaging	Het
Rxra	T	C	2: 27,631,195 (GRCm39)	I142T	probably damaging	Het
Sall2	T	C	14: 52,550,343 (GRCm39)	T951A	probably benign	Het
Slc15a2	T	G	16: 36,579,669 (GRCm39)	N359T	probably damaging	Het
Slc23a1	C	T	18: 35,755,588 (GRCm39)	G436E	probably damaging	Het
Slc6a13	T	C	6: 121,314,373 (GRCm39)	*603Q	probably null	Het
Sptb	T	C	12: 76,665,936 (GRCm39)	D894G	possibly damaging	Het
Srgn	A	G	10: 62,343,444 (GRCm39)	L17P	probably damaging	Het
Tmprss9	T	C	10: 80,733,205 (GRCm39)		probably null	Het
Trav9n-4	T	C	14: 53,532,403 (GRCm39)	F86L	probably benign	Het
Trp63	A	G	16: 25,695,484 (GRCm39)	Y482C	unknown	Het
Ttc9b	G	T	7: 27,353,394 (GRCm39)	A15S	probably damaging	Het
Urb1	A	T	16: 90,588,078 (GRCm39)	I410N	probably damaging	Het
Vmn2r82	A	T	10: 79,214,727 (GRCm39)	K237*	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
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
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'- GTGCTGTCTACTGTCCACTGAC -3'
(R):5'- ACTGGCGGTGAACGGTAAAC -3'

Sequencing Primer
(F):5'- ACTGACATGTCCCTTCGTGAC -3'
(R):5'- GTAAACAAACGCATGGGTAATAACC -3'

Posted On

2020-09-02