Incidental Mutation 'IGL00417:Uox'
ID6736
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uox
Ensembl Gene ENSMUSG00000028186
Gene Nameurate oxidase
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.491) question?
Stock #IGL00417
Quality Score
Status
Chromosome3
Chromosomal Location146570426-146632305 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 146627810 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 255 (M255L)
Ref Sequence ENSEMBL: ENSMUSP00000029837 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029837] [ENSMUST00000121133] [ENSMUST00000199489]
Predicted Effect probably benign
Transcript: ENSMUST00000029837
AA Change: M255L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029837
Gene: ENSMUSG00000028186
AA Change: M255L

DomainStartEndE-ValueType
Pfam:Uricase 19 144 8.7e-25 PFAM
Pfam:Uricase 153 292 5.6e-38 PFAM
Predicted Effect silent
Transcript: ENSMUST00000121133
SMART Domains Protein: ENSMUSP00000113649
Gene: ENSMUSG00000028186

DomainStartEndE-ValueType
Pfam:Uricase 2 72 1.2e-19 PFAM
Pfam:Uricase 79 181 8.5e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199489
SMART Domains Protein: ENSMUSP00000143418
Gene: ENSMUSG00000028186

DomainStartEndE-ValueType
Pfam:Uricase 1 121 8.3e-35 PFAM
Pfam:Uricase 128 228 1.8e-19 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mutants exhibit marked hyperuricemia and urate nephropathy. Most mutants die prior to four weeks of age. Homozygotes for a large paracentric inversion disrupting this same gene exhibit a similar phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,423,759 I39M probably benign Het
Acoxl G A 2: 127,978,804 C92Y probably damaging Het
Actl6b G T 5: 137,554,637 R76L probably damaging Het
Ank T C 15: 27,544,351 M66T possibly damaging Het
C6 C T 15: 4,759,967 A298V possibly damaging Het
Clip4 A T 17: 71,849,942 N591Y probably damaging Het
Cntnap5b T C 1: 100,050,754 I165T probably damaging Het
Dennd1b G A 1: 139,062,940 R214H probably damaging Het
Eri2 G A 7: 119,787,741 T185I probably benign Het
Fbxo33 A G 12: 59,202,670 V476A probably damaging Het
Fer1l4 G A 2: 156,019,920 R1826* probably null Het
Fyb A T 15: 6,580,777 K277I probably damaging Het
Gli3 C A 13: 15,644,299 H229N probably damaging Het
Hmcn1 T C 1: 150,677,278 I2554V probably benign Het
Maml2 A T 9: 13,621,604 probably benign Het
Map4k4 T C 1: 40,014,532 F930L possibly damaging Het
Mmadhc T C 2: 50,289,031 D125G probably benign Het
Nipbl A G 15: 8,366,673 S139P probably damaging Het
Obscn A G 11: 59,006,788 L6647P unknown Het
Ppara C A 15: 85,801,067 H406N probably benign Het
Psg27 T A 7: 18,561,917 H201L probably benign Het
Qser1 A T 2: 104,786,903 I1188N probably damaging Het
Rc3h1 T C 1: 160,955,981 probably null Het
Sept2 C T 1: 93,499,142 H158Y probably damaging Het
Snx9 C A 17: 5,891,897 Q100K probably benign Het
Spata5 A G 3: 37,451,802 I677V possibly damaging Het
Thnsl2 G A 6: 71,131,900 T309I probably damaging Het
Thsd7b A G 1: 129,595,834 R125G probably damaging Het
Tmem62 T G 2: 121,006,964 probably null Het
Tnpo3 A T 6: 29,578,461 probably null Het
Trpc6 A T 9: 8,680,438 D889V probably damaging Het
Tubgcp6 C A 15: 89,104,008 V913L probably benign Het
Other mutations in Uox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Uox APN 3 146610406 missense possibly damaging 0.95
IGL02409:Uox APN 3 146624626 missense probably benign 0.06
IGL02827:Uox APN 3 146597196 intron probably benign
IGL02979:Uox APN 3 146610491 splice site probably null
IGL03375:Uox APN 3 146625835 missense probably damaging 1.00
kamloops UTSW 3 146624577 nonsense probably null
R1350:Uox UTSW 3 146624575 missense probably damaging 1.00
R1634:Uox UTSW 3 146612383 nonsense probably null
R1900:Uox UTSW 3 146610379 missense probably damaging 1.00
R2000:Uox UTSW 3 146610399 missense possibly damaging 0.65
R2119:Uox UTSW 3 146612542 missense probably benign 0.01
R5329:Uox UTSW 3 146624545 missense probably damaging 1.00
R5606:Uox UTSW 3 146610302 nonsense probably null
R6281:Uox UTSW 3 146624577 nonsense probably null
R6327:Uox UTSW 3 146624577 nonsense probably null
R6337:Uox UTSW 3 146624577 nonsense probably null
R6364:Uox UTSW 3 146624577 nonsense probably null
R6365:Uox UTSW 3 146624577 nonsense probably null
R6369:Uox UTSW 3 146624577 nonsense probably null
R6483:Uox UTSW 3 146624577 nonsense probably null
R6492:Uox UTSW 3 146624577 nonsense probably null
R6494:Uox UTSW 3 146624577 nonsense probably null
R6556:Uox UTSW 3 146624648 critical splice donor site probably null
R6803:Uox UTSW 3 146612509 missense possibly damaging 0.91
R7809:Uox UTSW 3 146627858 nonsense probably null
R7868:Uox UTSW 3 146610274 missense probably benign 0.01
R8131:Uox UTSW 3 146625834 missense probably damaging 1.00
Posted On2012-04-20