Incidental Mutation 'IGL02805:Wwox'
ID 360384
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wwox
Ensembl Gene ENSMUSG00000004637
Gene Name WW domain-containing oxidoreductase
Synonyms WOX1, 9030416C10Rik, 5330426P09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.910) question?
Stock # IGL02805
Quality Score
Status
Chromosome 8
Chromosomal Location 115166395-116079447 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 115438753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 273 (G273E)
Ref Sequence ENSEMBL: ENSMUSP00000125626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004756] [ENSMUST00000109108] [ENSMUST00000160862]
AlphaFold Q91WL8
Predicted Effect probably damaging
Transcript: ENSMUST00000004756
AA Change: G273E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000004756
Gene: ENSMUSG00000004637
AA Change: G273E

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 damaging
Transcript: ENSMUST00000109108
AA Change: G273E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104736
Gene: ENSMUSG00000004637
AA Change: G273E

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 damaging
Transcript: ENSMUST00000160862
AA Change: G273E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125626
Gene: ENSMUSG00000004637
AA Change: G273E

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,113,959 (GRCm39) probably benign Het
Ankdd1b A G 13: 96,580,810 (GRCm39) S163P probably benign Het
Ap5z1 G A 5: 142,456,038 (GRCm39) probably benign Het
Asb14 A G 14: 26,623,144 (GRCm39) N172S possibly damaging Het
Avil G A 10: 126,843,486 (GRCm39) V139I possibly damaging Het
C130073F10Rik A T 4: 101,748,171 (GRCm39) M1K probably null Het
Ccdc33 T A 9: 58,005,874 (GRCm39) I37F probably benign Het
Ccdc9 T C 7: 16,009,199 (GRCm39) M550V probably benign Het
Cfap119 T C 7: 127,185,566 (GRCm39) D121G possibly damaging Het
Cgn T A 3: 94,681,687 (GRCm39) L469F probably damaging Het
Dnaaf3 C T 7: 4,526,704 (GRCm39) G458R possibly damaging Het
Dscaml1 T A 9: 45,359,195 (GRCm39) N151K probably damaging Het
Dsel A G 1: 111,790,046 (GRCm39) V163A probably damaging Het
Epg5 A G 18: 78,073,406 (GRCm39) probably benign Het
Fanca A T 8: 124,016,233 (GRCm39) I670N probably damaging Het
Fsip2 T C 2: 82,823,839 (GRCm39) V6524A probably benign Het
Gm10985 T C 3: 53,752,514 (GRCm39) probably null Het
Gm1818 C T 12: 48,602,518 (GRCm39) noncoding transcript Het
Hars2 C T 18: 36,920,630 (GRCm39) R158* probably null Het
Htr5b A G 1: 121,455,617 (GRCm39) V101A probably damaging Het
Ipp A G 4: 116,386,885 (GRCm39) I356V possibly damaging Het
Itga8 T A 2: 12,194,291 (GRCm39) N703I possibly damaging Het
Or8b3 T A 9: 38,315,132 (GRCm39) probably benign Het
Ppp6r3 T C 19: 3,542,428 (GRCm39) N406D probably benign Het
Rbbp6 G A 7: 122,600,411 (GRCm39) probably benign Het
Rgs7 T C 1: 174,977,262 (GRCm39) Y114C probably damaging Het
Ripor1 A G 8: 106,344,203 (GRCm39) T446A probably damaging Het
Rnf213 A G 11: 119,325,892 (GRCm39) D1562G probably damaging Het
Scaf11 A T 15: 96,318,063 (GRCm39) D500E possibly damaging Het
Spock1 A G 13: 58,055,391 (GRCm39) I4T possibly damaging Het
Srebf2 C A 15: 82,054,045 (GRCm39) N35K probably benign Het
Srgap3 G T 6: 112,704,224 (GRCm39) H922N probably damaging Het
Stk32c A C 7: 138,701,762 (GRCm39) H112Q probably damaging Het
Styxl2 T C 1: 165,926,630 (GRCm39) E994G probably damaging Het
Thumpd3 A G 6: 113,043,758 (GRCm39) D391G probably damaging Het
Vmn2r38 T A 7: 9,078,546 (GRCm39) H612L probably damaging Het
Vsig10l T G 7: 43,114,666 (GRCm39) I289S probably damaging Het
Zscan4d T G 7: 10,898,897 (GRCm39) probably benign Het
Other mutations in Wwox
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-12-18