Incidental Mutation 'IGL01098:Wwox'
ID51758
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wwox
Ensembl Gene ENSMUSG00000004637
Gene NameWW domain-containing oxidoreductase
Synonyms9030416C10Rik, WOX1, 5330426P09Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.923) question?
Stock #IGL01098
Quality Score
Status
Chromosome8
Chromosomal Location114439655-115352708 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 114445378 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Stop codon at position 71 (G71*)
Ref Sequence ENSEMBL: ENSMUSP00000125626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004756] [ENSMUST00000109107] [ENSMUST00000109108] [ENSMUST00000160862]
Predicted Effect probably null
Transcript: ENSMUST00000004756
AA Change: G71*
SMART Domains Protein: ENSMUSP00000004756
Gene: ENSMUSG00000004637
AA Change: G71*

DomainStartEndE-ValueType
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: ENSMUST00000109107
AA Change: G71*
SMART Domains Protein: ENSMUSP00000104735
Gene: ENSMUSG00000004637
AA Change: G71*

DomainStartEndE-ValueType
WW 17 49 3.31e-9 SMART
WW 58 90 5.76e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000109108
AA Change: G71*
SMART Domains Protein: ENSMUSP00000104736
Gene: ENSMUSG00000004637
AA Change: G71*

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000160862
AA Change: G71*
SMART Domains Protein: ENSMUSP00000125626
Gene: ENSMUSG00000004637
AA Change: G71*

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161753
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,473,533 D75G possibly damaging Het
Brip1 G T 11: 86,108,862 R765S possibly damaging Het
Btbd16 T C 7: 130,823,245 I452T probably damaging Het
Cdc42ep4 T G 11: 113,729,502 D21A probably damaging Het
Cdx2 T A 5: 147,306,982 M1L possibly damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Csmd2 C T 4: 128,059,052 T98M probably damaging Het
Cyp26a1 A T 19: 37,700,002 Q324L probably benign Het
Etaa1 A G 11: 17,946,059 V686A probably damaging Het
Gpr6 G A 10: 41,070,743 T281I probably damaging Het
Herc1 T A 9: 66,461,922 probably null Het
Lama2 A T 10: 27,031,112 I2351N possibly damaging Het
Lman1 A G 18: 65,991,640 F343L probably damaging Het
Lmo1 A G 7: 109,143,450 probably benign Het
Lrrc17 T A 5: 21,575,271 F414L probably benign Het
Man2b2 A T 5: 36,815,556 L538Q probably damaging Het
Map3k9 A G 12: 81,724,154 S910P probably damaging Het
Mapk1ip1 G A 7: 138,836,462 P80S probably damaging Het
Mindy4 G T 6: 55,284,742 probably benign Het
Msh4 A T 3: 153,877,982 probably benign Het
Mta2 A G 19: 8,946,717 D187G probably damaging Het
Olfml2a A G 2: 38,947,214 probably null Het
Pink1 A T 4: 138,320,097 probably null Het
Plekha6 T C 1: 133,282,165 F575L possibly damaging Het
Rpe C A 1: 66,706,515 D71E probably benign Het
Slc5a7 C T 17: 54,292,960 A142T probably benign Het
Sptbn1 C T 11: 30,159,385 R70K probably damaging Het
Taf1c G T 8: 119,602,841 Q159K probably damaging Het
Tgfb1i1 T C 7: 128,252,521 F311S probably damaging Het
Tmc8 T C 11: 117,792,563 V648A possibly damaging Het
Tmed8 G T 12: 87,176,671 A98E probably benign Het
Tmem200a A G 10: 25,994,143 I76T probably damaging Het
Vmn2r104 T C 17: 20,048,096 E37G probably benign Het
Vmn2r18 A T 5: 151,572,831 V474E probably damaging Het
Vps52 C T 17: 33,962,730 T510I possibly damaging Het
Zer1 C T 2: 30,108,220 probably null Het
Zfp296 A T 7: 19,577,920 K117N possibly damaging Het
Other mutations in Wwox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02156:Wwox APN 8 114448159 critical splice acceptor site probably null
IGL02267:Wwox APN 8 114712065 missense probably benign 0.23
IGL02346:Wwox APN 8 114712118 missense probably benign 0.11
IGL02350:Wwox APN 8 114712142 missense possibly damaging 0.81
IGL02357:Wwox APN 8 114712142 missense possibly damaging 0.81
IGL02586:Wwox APN 8 114712207 missense possibly damaging 0.59
IGL02701:Wwox APN 8 114706368 missense probably damaging 1.00
IGL02743:Wwox APN 8 115351704 missense probably damaging 1.00
IGL02804:Wwox APN 8 114712013 missense probably damaging 1.00
IGL02805:Wwox APN 8 114712013 missense probably damaging 1.00
R0048:Wwox UTSW 8 114439830 missense probably damaging 1.00
R0140:Wwox UTSW 8 114706287 missense probably damaging 1.00
R0390:Wwox UTSW 8 114706278 missense probably benign 0.08
R1146:Wwox UTSW 8 114712036 missense probably damaging 1.00
R1146:Wwox UTSW 8 114712036 missense probably damaging 1.00
R1193:Wwox UTSW 8 114679874 missense probably benign
R1520:Wwox UTSW 8 114712133 missense probably benign 0.36
R1552:Wwox UTSW 8 114445350 nonsense probably null
R1628:Wwox UTSW 8 114448233 missense probably benign
R1639:Wwox UTSW 8 114445378 nonsense probably null
R3778:Wwox UTSW 8 114874607 missense probably benign 0.00
R3967:Wwox UTSW 8 114488933 missense probably damaging 1.00
R4077:Wwox UTSW 8 114439741 utr 5 prime probably benign
R4876:Wwox UTSW 8 114448248 missense probably damaging 1.00
R4936:Wwox UTSW 8 114706358 missense probably benign 0.00
R5868:Wwox UTSW 8 114679846 missense probably benign
R5988:Wwox UTSW 8 114706341 missense probably benign 0.06
R6272:Wwox UTSW 8 114488952 missense probably damaging 1.00
R7043:Wwox UTSW 8 114679838 missense probably damaging 0.97
R7348:Wwox UTSW 8 114472652 missense probably benign 0.00
R7815:Wwox UTSW 8 114712036 missense probably damaging 1.00
Posted On2013-06-21