Incidental Mutation 'IGL02661:Urah'
ID302539
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Urah
Ensembl Gene ENSMUSG00000025481
Gene Nameurate (5-hydroxyiso-) hydrolase
Synonyms2810420C16Rik, HIU hydrolase, 1190003J15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #IGL02661
Quality Score
Status
Chromosome7
Chromosomal Location140835018-140837966 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 140837705 bp
ZygosityHeterozygous
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] [ENSMUST00000210916] [ENSMUST00000211372]
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 probably benign
Transcript: ENSMUST00000210916
Predicted Effect possibly damaging
Transcript: ENSMUST00000211372
AA Change: K96M

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
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: 52,660,494 W33L probably damaging Het
Adam34 A T 8: 43,651,535 C358S probably damaging Het
Ak5 C A 3: 152,463,956 V561F probably benign Het
Ap1s1 T C 5: 137,037,473 D158G probably benign Het
Bard1 A G 1: 71,075,310 S171P probably damaging Het
Bsn A C 9: 108,106,936 Y534* probably null Het
Clcn4 A T 7: 7,291,731 probably null Het
Cyp2j7 T C 4: 96,236,650 T4A probably benign Het
Dnajc10 T A 2: 80,326,740 probably benign Het
Dtl G T 1: 191,541,371 T475N probably benign Het
Eif3m T C 2: 105,004,969 Y120C probably damaging Het
Gab1 A G 8: 80,788,937 S251P probably damaging Het
Gba T A 3: 89,203,527 V14E probably benign Het
Ggcx C T 6: 72,418,360 P145S possibly damaging Het
Gm13889 G A 2: 93,956,679 T150I probably benign Het
Gm4978 C A 9: 69,450,898 probably benign Het
Herc2 A G 7: 56,113,073 D850G probably damaging Het
Hspa1l A G 17: 34,977,275 I97V probably benign Het
Ighv1-4 T G 12: 114,487,230 K86T probably damaging Het
Ints4 C A 7: 97,495,705 L175I probably benign Het
Kif13b T G 14: 64,767,691 V1144G probably benign Het
Kpna3 T A 14: 61,372,949 probably benign Het
Man2c1 A G 9: 57,137,482 D371G probably damaging Het
Mtf1 T C 4: 124,825,109 L305P probably damaging Het
Myo15b T G 11: 115,884,069 V2139G probably benign Het
Nalcn T C 14: 123,592,909 probably benign Het
Neurod2 T C 11: 98,327,579 Q253R possibly damaging Het
Nfkbil1 C A 17: 35,220,671 A289S probably benign Het
Olfr1277 T A 2: 111,269,466 R300S possibly damaging Het
Paxbp1 A T 16: 91,030,525 I474K probably benign Het
Pde6c A T 19: 38,180,800 I798F probably damaging Het
Pon3 T A 6: 5,256,205 T8S probably benign Het
Prkdc A G 16: 15,769,825 T2525A possibly damaging Het
Rnase10 T G 14: 51,009,816 V180G probably damaging Het
Rreb1 T A 13: 37,930,802 C712* probably null Het
Scamp2 T C 9: 57,587,414 probably benign Het
Serpina3i A T 12: 104,265,256 K51* probably null Het
Smyd4 C A 11: 75,390,941 C413* probably null Het
Spata2 C T 2: 167,483,361 V513M probably damaging Het
Sri T A 5: 8,063,252 probably benign Het
Wdr19 C T 5: 65,245,808 T1005I probably benign Het
Other mutations in Urah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02158:Urah APN 7 140836886 splice site probably benign
IGL02201:Urah APN 7 140835663 missense probably damaging 0.98
R0048:Urah UTSW 7 140836752 missense probably damaging 1.00
R0048:Urah UTSW 7 140836752 missense probably damaging 1.00
R0254:Urah UTSW 7 140837689 missense probably benign 0.06
R6086:Urah UTSW 7 140836798 missense probably benign 0.03
R6237:Urah UTSW 7 140835705 missense probably damaging 0.98
R6374:Urah UTSW 7 140835211 missense probably benign 0.00
R7544:Urah UTSW 7 140835652 missense probably damaging 1.00
R7581:Urah UTSW 7 140835627 missense probably benign
R8183:Urah UTSW 7 140836794 missense probably benign
Posted On2015-04-16