Incidental Mutation 'IGL00417:Uox'
ID 6736
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uox
Ensembl Gene ENSMUSG00000028186
Gene Name urate oxidase
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.449) question?
Stock # IGL00417
Quality Score
Status
Chromosome 3
Chromosomal Location 146302904-146337238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 146333565 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P25688
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: 120,022,982 (GRCm39) I39M probably benign Het
Acoxl G A 2: 127,820,724 (GRCm39) C92Y probably damaging Het
Actl6b G T 5: 137,552,899 (GRCm39) R76L probably damaging Het
Afg2a A G 3: 37,505,951 (GRCm39) I677V possibly damaging Het
Ank T C 15: 27,544,437 (GRCm39) M66T possibly damaging Het
C6 C T 15: 4,789,449 (GRCm39) A298V possibly damaging Het
Clip4 A T 17: 72,156,937 (GRCm39) N591Y probably damaging Het
Cntnap5b T C 1: 99,978,479 (GRCm39) I165T probably damaging Het
Dennd1b G A 1: 138,990,678 (GRCm39) R214H probably damaging Het
Eri2 G A 7: 119,386,964 (GRCm39) T185I probably benign Het
Fbxo33 A G 12: 59,249,456 (GRCm39) V476A probably damaging Het
Fer1l4 G A 2: 155,861,840 (GRCm39) R1826* probably null Het
Fyb1 A T 15: 6,610,258 (GRCm39) K277I probably damaging Het
Gli3 C A 13: 15,818,884 (GRCm39) H229N probably damaging Het
Hmcn1 T C 1: 150,553,029 (GRCm39) I2554V probably benign Het
Maml2 A T 9: 13,532,900 (GRCm39) probably benign Het
Map4k4 T C 1: 40,053,692 (GRCm39) F930L possibly damaging Het
Mmadhc T C 2: 50,179,043 (GRCm39) D125G probably benign Het
Nipbl A G 15: 8,396,157 (GRCm39) S139P probably damaging Het
Obscn A G 11: 58,897,614 (GRCm39) L6647P unknown Het
Ppara C A 15: 85,685,268 (GRCm39) H406N probably benign Het
Psg27 T A 7: 18,295,842 (GRCm39) H201L probably benign Het
Qser1 A T 2: 104,617,248 (GRCm39) I1188N probably damaging Het
Rc3h1 T C 1: 160,783,551 (GRCm39) probably null Het
Septin2 C T 1: 93,426,864 (GRCm39) H158Y probably damaging Het
Snx9 C A 17: 5,942,172 (GRCm39) Q100K probably benign Het
Thnsl2 G A 6: 71,108,884 (GRCm39) T309I probably damaging Het
Thsd7b A G 1: 129,523,571 (GRCm39) R125G probably damaging Het
Tmem62 T G 2: 120,837,445 (GRCm39) probably null Het
Tnpo3 A T 6: 29,578,460 (GRCm39) probably null Het
Trpc6 A T 9: 8,680,439 (GRCm39) D889V probably damaging Het
Tubgcp6 C A 15: 88,988,211 (GRCm39) V913L probably benign Het
Other mutations in Uox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Uox APN 3 146,316,161 (GRCm39) missense possibly damaging 0.95
IGL02409:Uox APN 3 146,330,381 (GRCm39) missense probably benign 0.06
IGL02827:Uox APN 3 146,302,951 (GRCm39) intron probably benign
IGL02979:Uox APN 3 146,316,246 (GRCm39) splice site probably null
IGL03375:Uox APN 3 146,331,590 (GRCm39) missense probably damaging 1.00
kamloops UTSW 3 146,330,332 (GRCm39) nonsense probably null
vancouver UTSW 3 146,318,047 (GRCm39) missense probably damaging 1.00
R1350:Uox UTSW 3 146,330,330 (GRCm39) missense probably damaging 1.00
R1634:Uox UTSW 3 146,318,138 (GRCm39) nonsense probably null
R1900:Uox UTSW 3 146,316,134 (GRCm39) missense probably damaging 1.00
R2000:Uox UTSW 3 146,316,154 (GRCm39) missense possibly damaging 0.65
R2119:Uox UTSW 3 146,318,297 (GRCm39) missense probably benign 0.01
R5329:Uox UTSW 3 146,330,300 (GRCm39) missense probably damaging 1.00
R5606:Uox UTSW 3 146,316,057 (GRCm39) nonsense probably null
R6281:Uox UTSW 3 146,330,332 (GRCm39) nonsense probably null
R6327:Uox UTSW 3 146,330,332 (GRCm39) nonsense probably null
R6337:Uox UTSW 3 146,330,332 (GRCm39) nonsense probably null
R6364:Uox UTSW 3 146,330,332 (GRCm39) nonsense probably null
R6365:Uox UTSW 3 146,330,332 (GRCm39) nonsense probably null
R6369:Uox UTSW 3 146,330,332 (GRCm39) nonsense probably null
R6483:Uox UTSW 3 146,330,332 (GRCm39) nonsense probably null
R6492:Uox UTSW 3 146,330,332 (GRCm39) nonsense probably null
R6494:Uox UTSW 3 146,330,332 (GRCm39) nonsense probably null
R6556:Uox UTSW 3 146,330,403 (GRCm39) critical splice donor site probably null
R6803:Uox UTSW 3 146,318,264 (GRCm39) missense possibly damaging 0.91
R7809:Uox UTSW 3 146,333,613 (GRCm39) nonsense probably null
R7868:Uox UTSW 3 146,316,029 (GRCm39) missense probably benign 0.01
R8131:Uox UTSW 3 146,331,589 (GRCm39) missense probably damaging 1.00
R8931:Uox UTSW 3 146,318,047 (GRCm39) missense probably damaging 1.00
R9088:Uox UTSW 3 146,330,369 (GRCm39) missense probably damaging 1.00
R9566:Uox UTSW 3 146,330,308 (GRCm39) missense possibly damaging 0.65
Posted On 2012-04-20