Incidental Mutation 'IGL02661:Urah'
ID 302539
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Urah
Ensembl Gene ENSMUSG00000025481
Gene Name urate (5-hydroxyiso-) hydrolase
Synonyms 2810420C16Rik, 1190003J15Rik, HIU hydrolase
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # IGL02661
Quality Score
Status
Chromosome 7
Chromosomal Location 140414936-140417884 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 140417618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 119 (K119M)
Ref Sequence ENSEMBL: ENSMUSP00000101665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026554] [ENSMUST00000106050] [ENSMUST00000185612] [ENSMUST00000209690] [ENSMUST00000209978] [ENSMUST00000211372] [ENSMUST00000210916]
AlphaFold Q9CRB3
Predicted Effect possibly damaging
Transcript: ENSMUST00000026554
AA Change: K96M

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026554
Gene: ENSMUSG00000025481
AA Change: K96M

DomainStartEndE-ValueType
TR_THY 3 117 3.05e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106050
AA Change: K119M

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101665
Gene: ENSMUSG00000025481
AA Change: K119M

DomainStartEndE-ValueType
TR_THY 3 117 3.05e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127986
Predicted Effect possibly damaging
Transcript: ENSMUST00000185612
AA Change: K96M

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000140559
Gene: ENSMUSG00000025481
AA Change: K96M

DomainStartEndE-ValueType
TR_THY 3 117 3.05e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190581
Predicted Effect probably benign
Transcript: ENSMUST00000209690
Predicted Effect unknown
Transcript: ENSMUST00000209978
AA Change: K129N
Predicted Effect possibly damaging
Transcript: ENSMUST00000211372
AA Change: K96M

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000210916
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU mutation have an elevated platelet cell number, display hepatomegaly and hepatocellular carcinoma. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik G T 18: 52,793,566 (GRCm39) W33L probably damaging Het
Adam34 A T 8: 44,104,572 (GRCm39) C358S probably damaging Het
Ak5 C A 3: 152,169,593 (GRCm39) V561F probably benign Het
Ap1s1 T C 5: 137,066,327 (GRCm39) D158G probably benign Het
Bard1 A G 1: 71,114,469 (GRCm39) S171P probably damaging Het
Bsn A C 9: 107,984,135 (GRCm39) Y534* probably null Het
Clcn4 A T 7: 7,294,730 (GRCm39) probably null Het
Cyp2j7 T C 4: 96,124,887 (GRCm39) T4A probably benign Het
Dnajc10 T A 2: 80,157,084 (GRCm39) probably benign Het
Dtl G T 1: 191,273,483 (GRCm39) T475N probably benign Het
Eif3m T C 2: 104,835,314 (GRCm39) Y120C probably damaging Het
Gab1 A G 8: 81,515,566 (GRCm39) S251P probably damaging Het
Gba1 T A 3: 89,110,834 (GRCm39) V14E probably benign Het
Ggcx C T 6: 72,395,343 (GRCm39) P145S possibly damaging Het
Gm13889 G A 2: 93,787,024 (GRCm39) T150I probably benign Het
Gm4978 C A 9: 69,358,180 (GRCm39) probably benign Het
Herc2 A G 7: 55,762,821 (GRCm39) D850G probably damaging Het
Hspa1l A G 17: 35,196,251 (GRCm39) I97V probably benign Het
Ighv1-4 T G 12: 114,450,850 (GRCm39) K86T probably damaging Het
Ints4 C A 7: 97,144,912 (GRCm39) L175I probably benign Het
Kif13b T G 14: 65,005,140 (GRCm39) V1144G probably benign Het
Kpna3 T A 14: 61,610,398 (GRCm39) probably benign Het
Man2c1 A G 9: 57,044,766 (GRCm39) D371G probably damaging Het
Mtf1 T C 4: 124,718,902 (GRCm39) L305P probably damaging Het
Myo15b T G 11: 115,774,895 (GRCm39) V2139G probably benign Het
Nalcn T C 14: 123,830,321 (GRCm39) probably benign Het
Neurod2 T C 11: 98,218,405 (GRCm39) Q253R possibly damaging Het
Nfkbil1 C A 17: 35,439,647 (GRCm39) A289S probably benign Het
Or4k35 T A 2: 111,099,811 (GRCm39) R300S possibly damaging Het
Paxbp1 A T 16: 90,827,413 (GRCm39) I474K probably benign Het
Pde6c A T 19: 38,169,248 (GRCm39) I798F probably damaging Het
Pon3 T A 6: 5,256,205 (GRCm39) T8S probably benign Het
Prkdc A G 16: 15,587,689 (GRCm39) T2525A possibly damaging Het
Rnase10 T G 14: 51,247,273 (GRCm39) V180G probably damaging Het
Rreb1 T A 13: 38,114,778 (GRCm39) C712* probably null Het
Scamp2 T C 9: 57,494,697 (GRCm39) probably benign Het
Serpina3i A T 12: 104,231,515 (GRCm39) K51* probably null Het
Smyd4 C A 11: 75,281,767 (GRCm39) C413* probably null Het
Spata2 C T 2: 167,325,281 (GRCm39) V513M probably damaging Het
Sri T A 5: 8,113,252 (GRCm39) probably benign Het
Wdr19 C T 5: 65,403,151 (GRCm39) T1005I probably benign Het
Other mutations in Urah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02158:Urah APN 7 140,416,799 (GRCm39) splice site probably benign
IGL02201:Urah APN 7 140,415,576 (GRCm39) missense probably damaging 0.98
R0048:Urah UTSW 7 140,416,665 (GRCm39) missense probably damaging 1.00
R0048:Urah UTSW 7 140,416,665 (GRCm39) missense probably damaging 1.00
R0254:Urah UTSW 7 140,417,602 (GRCm39) missense probably benign 0.06
R6086:Urah UTSW 7 140,416,711 (GRCm39) missense probably benign 0.03
R6237:Urah UTSW 7 140,415,618 (GRCm39) missense probably damaging 0.98
R6374:Urah UTSW 7 140,415,124 (GRCm39) missense probably benign 0.00
R7544:Urah UTSW 7 140,415,565 (GRCm39) missense probably damaging 1.00
R7581:Urah UTSW 7 140,415,540 (GRCm39) missense probably benign
R8183:Urah UTSW 7 140,416,707 (GRCm39) missense probably benign
R9178:Urah UTSW 7 140,417,587 (GRCm39) missense unknown
R9745:Urah UTSW 7 140,415,531 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16