Incidental Mutation 'R1552:Wwox'
ID 170015
Institutional Source Beutler Lab
Gene Symbol Wwox
Ensembl Gene ENSMUSG00000004637
Gene Name WW domain-containing oxidoreductase
Synonyms WOX1, 9030416C10Rik, 5330426P09Rik
MMRRC Submission 039591-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.907) question?
Stock # R1552 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 115166395-116079447 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 115172090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 61 (Y61*)
Ref Sequence ENSEMBL: ENSMUSP00000125626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004756] [ENSMUST00000109107] [ENSMUST00000109108] [ENSMUST00000160862]
AlphaFold Q91WL8
Predicted Effect probably null
Transcript: ENSMUST00000004756
AA Change: Y61*
SMART Domains Protein: ENSMUSP00000004756
Gene: ENSMUSG00000004637
AA Change: Y61*

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: Y61*
SMART Domains Protein: ENSMUSP00000104735
Gene: ENSMUSG00000004637
AA Change: Y61*

DomainStartEndE-ValueType
WW 17 49 3.31e-9 SMART
WW 58 90 5.76e-9 SMART
Predicted Effect probably null
Transcript: ENSMUST00000109108
AA Change: Y61*
SMART Domains Protein: ENSMUSP00000104736
Gene: ENSMUSG00000004637
AA Change: Y61*

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: Y61*
SMART Domains Protein: ENSMUSP00000125626
Gene: ENSMUSG00000004637
AA Change: Y61*

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
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
Validation Efficiency 97% (71/73)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 T A 16: 20,217,617 (GRCm39) I365F probably damaging Het
Abhd15 T C 11: 77,406,233 (GRCm39) L70P probably damaging Het
Adam18 A C 8: 25,136,377 (GRCm39) H381Q probably benign Het
Ankfy1 T C 11: 72,645,321 (GRCm39) probably null Het
Arcn1 C T 9: 44,670,291 (GRCm39) A112T probably damaging Het
Bltp3a T C 17: 28,109,045 (GRCm39) F1088S possibly damaging Het
Calhm1 C T 19: 47,129,640 (GRCm39) R294H probably benign Het
Ccdc121rt1 A G 1: 181,338,556 (GRCm39) L132P probably damaging Het
Cdk5rap1 T C 2: 154,212,615 (GRCm39) E81G probably benign Het
Cep170 T C 1: 176,610,060 (GRCm39) probably benign Het
Cep350 C T 1: 155,786,484 (GRCm39) R1454Q possibly damaging Het
Chrna3 C A 9: 54,923,192 (GRCm39) E205D probably benign Het
Chst5 T C 8: 112,616,912 (GRCm39) D236G probably damaging Het
Coro1a T C 7: 126,299,124 (GRCm39) N367D probably benign Het
Cyp3a16 T C 5: 145,373,346 (GRCm39) I474V probably benign Het
Cyth3 G A 5: 143,683,505 (GRCm39) V87I probably benign Het
Dclk3 C A 9: 111,317,647 (GRCm39) T761K probably damaging Het
Dvl2 T A 11: 69,897,198 (GRCm39) M300K possibly damaging Het
Eefsec C T 6: 88,353,182 (GRCm39) probably benign Het
Exog T C 9: 119,274,176 (GRCm39) S54P unknown Het
Fasn A G 11: 120,709,384 (GRCm39) S519P probably damaging Het
Gas8 G A 8: 124,247,385 (GRCm39) A16T probably benign Het
Got2 A G 8: 96,596,122 (GRCm39) S333P probably benign Het
Hadhb T A 5: 30,381,931 (GRCm39) L287Q probably null Het
Ift57 A G 16: 49,579,716 (GRCm39) T211A probably benign Het
Il1rap A G 16: 26,541,184 (GRCm39) E475G possibly damaging Het
Ilkap A T 1: 91,312,316 (GRCm39) D11E probably damaging Het
Impact T C 18: 13,117,337 (GRCm39) S137P probably benign Het
Jarid2 T C 13: 45,064,675 (GRCm39) V920A probably damaging Het
Kcnk18 A T 19: 59,223,890 (GRCm39) H345L probably damaging Het
Kdm4d A T 9: 14,375,325 (GRCm39) Y178N probably damaging Het
Klk1b1 A G 7: 43,618,767 (GRCm39) Y48C probably damaging Het
Klra5 G T 6: 129,886,848 (GRCm39) T60K probably damaging Het
Kng2 A T 16: 22,806,270 (GRCm39) L643H probably damaging Het
Lamb3 A G 1: 193,013,067 (GRCm39) probably null Het
Lingo2 A G 4: 35,708,315 (GRCm39) V555A probably damaging Het
Mbd5 T C 2: 49,162,946 (GRCm39) S251P probably damaging Het
Mc4r T C 18: 66,992,766 (GRCm39) S116G probably benign Het
Mipol1 T C 12: 57,352,874 (GRCm39) V71A possibly damaging Het
Myo15b A C 11: 115,757,461 (GRCm39) S1104R probably benign Het
Nek1 T A 8: 61,459,771 (GRCm39) D26E probably damaging Het
Neu1 C T 17: 35,151,089 (GRCm39) probably benign Het
Npffr2 T C 5: 89,730,975 (GRCm39) S302P possibly damaging Het
Or8b48 T C 9: 38,492,675 (GRCm39) M34T probably benign Het
Palmd T A 3: 116,741,689 (GRCm39) probably benign Het
Pcdh8 A T 14: 80,008,047 (GRCm39) V172E probably benign Het
Pnpla6 C A 8: 3,572,403 (GRCm39) Q291K probably damaging Het
Pou2af2 T A 9: 51,202,870 (GRCm39) S95C probably damaging Het
Prkch T C 12: 73,749,320 (GRCm39) F357L probably benign Het
Ptprj A T 2: 90,301,497 (GRCm39) Y212N probably damaging Het
Reln G T 5: 22,165,376 (GRCm39) H2061N probably benign Het
Rint1 T A 5: 24,005,656 (GRCm39) S113T probably benign Het
Rnf38 G C 4: 44,142,468 (GRCm39) probably null Het
Slc30a4 T A 2: 122,527,936 (GRCm39) I374L probably benign Het
Slfn10-ps T C 11: 82,920,676 (GRCm39) noncoding transcript Het
Smcp A T 3: 92,491,710 (GRCm39) C46S unknown Het
Smu1 A C 4: 40,748,570 (GRCm39) V240G probably damaging Het
Srsf5 A G 12: 80,996,519 (GRCm39) probably benign Het
Stn1 T C 19: 47,524,812 (GRCm39) probably null Het
Stx18 A G 5: 38,262,335 (GRCm39) E63G probably damaging Het
Tas2r130 A G 6: 131,607,130 (GRCm39) Y222H probably benign Het
Tescl G T 7: 24,032,758 (GRCm39) P189Q probably benign Het
Tlr1 A G 5: 65,084,203 (GRCm39) S125P probably damaging Het
Ugt2a2 G T 5: 87,609,880 (GRCm39) D566E possibly damaging Het
Unc13b A T 4: 43,237,144 (GRCm39) T3405S probably damaging Het
Upf1 G A 8: 70,785,709 (GRCm39) Q1046* probably null Het
Zfhx4 C T 3: 5,468,170 (GRCm39) T2776M probably damaging Het
Zranb3 G A 1: 127,888,488 (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
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
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
Predicted Primers PCR Primer
(F):5'- TCTCTAACTGCCATGTGACCAGCC -3'
(R):5'- CTCAGGACGAGCCGCTTAAAGAAG -3'

Sequencing Primer
(F):5'- ACCAGCCTGGTCCAGGAG -3'
(R):5'- aaaagaaggaaagaaagaaaagaagC -3'
Posted On 2014-04-13