Incidental Mutation 'IGL02346:Wwox'
ID289272
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: 0.910) question?
Stock #IGL02346
Quality Score
Status
Chromosome8
Chromosomal Location114439655-115352708 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 114712118 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 308 (H308R)
Ref Sequence ENSEMBL: ENSMUSP00000125626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004756] [ENSMUST00000109108] [ENSMUST00000160862]
Predicted Effect probably benign
Transcript: ENSMUST00000004756
AA Change: H308R

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000004756
Gene: ENSMUSG00000004637
AA Change: H308R

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 benign
Transcript: ENSMUST00000109108
AA Change: H308R

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000104736
Gene: ENSMUSG00000004637
AA Change: H308R

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: ENSMUST00000159870
Predicted Effect probably benign
Transcript: ENSMUST00000160862
AA Change: H308R

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000125626
Gene: ENSMUSG00000004637
AA Change: H308R

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: ENSMUST00000161914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162052
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,238,699 I1948F probably damaging Het
Adgre1 T C 17: 57,443,919 V531A probably benign Het
Ano3 A T 2: 110,770,926 probably benign Het
Api5 A T 2: 94,427,530 F125I possibly damaging Het
Arhgap21 A G 2: 20,879,951 probably benign Het
Atp13a5 T A 16: 29,327,736 K247* probably null Het
Ccdc58 T C 16: 36,091,835 V87A probably damaging Het
Col9a1 C T 1: 24,223,609 A585V probably damaging Het
Eef1akmt3 A G 10: 127,032,936 V223A probably benign Het
Eml1 T C 12: 108,537,441 S766P possibly damaging Het
Fam13b G T 18: 34,462,105 A402E probably benign Het
Gad2 A G 2: 22,629,939 probably benign Het
Gbf1 A G 19: 46,285,930 E1859G probably damaging Het
Gli3 T G 13: 15,723,693 V786G probably damaging Het
Gm5592 A G 7: 41,289,465 S724G probably damaging Het
Hgs A G 11: 120,482,551 Y634C probably damaging Het
Hoxa3 T A 6: 52,170,599 probably benign Het
Id4 C A 13: 48,261,713 Y72* probably null Het
Il5ra T A 6: 106,742,658 E71D probably benign Het
Kcnh4 G A 11: 100,756,942 T168M possibly damaging Het
Kdm3b A T 18: 34,834,238 I1699L probably damaging Het
Madd A G 2: 91,162,491 Y1048H probably damaging Het
Nr2f1 C A 13: 78,195,408 V246L probably damaging Het
Oas2 A T 5: 120,736,088 I560N probably benign Het
Olfr24 T C 9: 18,754,769 I289V probably damaging Het
Olfr27 T C 9: 39,144,643 L181P probably damaging Het
Olfr346 A T 2: 36,688,004 M1L probably benign Het
Pclo A G 5: 14,677,538 probably benign Het
Pdss2 T C 10: 43,345,643 F184L possibly damaging Het
Prpf39 C T 12: 65,057,736 T525I probably benign Het
Ralgps1 A T 2: 33,157,770 probably null Het
Rasal3 A G 17: 32,399,349 W161R probably damaging Het
Sema5b T A 16: 35,649,755 V329D probably damaging Het
Serpinb9g A T 13: 33,486,531 M1L probably benign Het
Sptb C T 12: 76,621,014 D770N probably damaging Het
Tdp2 T C 13: 24,841,352 V368A possibly damaging Het
Uggt1 A G 1: 36,179,670 S59P probably benign Het
Vmn2r9 T A 5: 108,842,984 N837I probably benign Het
Vmn2r-ps130 T C 17: 23,061,527 V54A possibly damaging Het
Wdr7 A T 18: 63,865,336 E1118V probably benign Het
Zbtb41 C A 1: 139,447,100 P766Q probably damaging Het
Other mutations in Wwox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Wwox APN 8 114445378 nonsense probably null
IGL02156:Wwox APN 8 114448159 critical splice acceptor site probably null
IGL02267:Wwox APN 8 114712065 missense probably benign 0.23
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 On2015-04-16