Incidental Mutation 'R7544:Urah'
ID 584089
Institutional Source Beutler Lab
Gene Symbol Urah
Ensembl Gene ENSMUSG00000025481
Gene Name urate (5-hydroxyiso-) hydrolase
Synonyms 2810420C16Rik, 1190003J15Rik, HIU hydrolase
MMRRC Submission 045616-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R7544 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 140414936-140417884 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 140415565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 11 (H11L)
Ref Sequence ENSEMBL: ENSMUSP00000026554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026554] [ENSMUST00000106050] [ENSMUST00000185612] [ENSMUST00000209690] [ENSMUST00000209978] [ENSMUST00000210916] [ENSMUST00000211372]
AlphaFold Q9CRB3
Predicted Effect probably damaging
Transcript: ENSMUST00000026554
AA Change: H11L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026554
Gene: ENSMUSG00000025481
AA Change: H11L

DomainStartEndE-ValueType
TR_THY 3 117 3.05e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106050
AA Change: H34L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101665
Gene: ENSMUSG00000025481
AA Change: H34L

DomainStartEndE-ValueType
TR_THY 3 117 3.05e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000185612
AA Change: H11L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140559
Gene: ENSMUSG00000025481
AA Change: H11L

DomainStartEndE-ValueType
TR_THY 3 117 3.05e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000209690
Predicted Effect probably damaging
Transcript: ENSMUST00000209978
AA Change: H10L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000210916
AA Change: H4L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000211372
AA Change: H11L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C T 11: 72,089,765 (GRCm39) V40I probably damaging Het
Abcb11 T C 2: 69,095,830 (GRCm39) K837E probably benign Het
Arhgef10 T C 8: 15,029,854 (GRCm39) S919P probably benign Het
Atxn2 T C 5: 121,919,431 (GRCm39) S530P probably damaging Het
Bicc1 T C 10: 70,792,204 (GRCm39) E268G possibly damaging Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Capn7 T G 14: 31,062,007 (GRCm39) L40V probably damaging Het
Cd28 A T 1: 60,808,859 (GRCm39) N191I probably damaging Het
Cfap69 G A 5: 5,645,936 (GRCm39) T588M not run Het
Csmd1 T C 8: 16,142,310 (GRCm39) E1531G probably damaging Het
Cyp4a14 T A 4: 115,348,283 (GRCm39) D398V probably damaging Het
Dchs2 T C 3: 83,262,434 (GRCm39) S2901P probably damaging Het
Ddx11 G A 17: 66,433,280 (GRCm39) G37S probably damaging Het
Diaph1 A T 18: 38,026,322 (GRCm39) probably null Het
Ech1 T C 7: 28,525,392 (GRCm39) V49A probably benign Het
Elovl4 T C 9: 83,665,271 (GRCm39) Y196C probably damaging Het
Ern2 G A 7: 121,772,422 (GRCm39) L679F probably benign Het
Fbf1 A T 11: 116,056,659 (GRCm39) M17K probably benign Het
Flvcr1 C A 1: 190,758,143 (GRCm39) G50W probably damaging Het
Fryl A G 5: 73,238,382 (GRCm39) S1455P probably benign Het
Fzd9 A G 5: 135,278,716 (GRCm39) Y390H probably damaging Het
Gnai3 C T 3: 108,025,702 (GRCm39) V126M Het
Gpc5 T C 14: 115,665,585 (GRCm39) F470L probably damaging Het
Grin1 T C 2: 25,195,086 (GRCm39) N332S probably benign Het
Gtf3c5 T A 2: 28,469,554 (GRCm39) I117F possibly damaging Het
Hydin A T 8: 111,316,157 (GRCm39) S4350C probably benign Het
Kcnh4 G T 11: 100,647,906 (GRCm39) H152Q probably benign Het
Kcnk12 A T 17: 88,053,493 (GRCm39) S390T possibly damaging Het
Klra9 T G 6: 130,168,183 (GRCm39) T28P probably benign Het
Lef1 T A 3: 130,988,414 (GRCm39) I327N probably damaging Het
Lin54 A G 5: 100,633,129 (GRCm39) V185A possibly damaging Het
Lrrc37 T C 11: 103,506,274 (GRCm39) E1898G probably benign Het
Lrrc4b A T 7: 44,111,975 (GRCm39) I616F probably damaging Het
Mad2l1bp A G 17: 46,463,770 (GRCm39) Y85H possibly damaging Het
Mars1 T C 10: 127,147,479 (GRCm39) E7G probably benign Het
Mpnd G A 17: 56,318,666 (GRCm39) R225H probably benign Het
Muc4 T A 16: 32,555,016 (GRCm39) M1K probably null Het
Nckap5 A G 1: 125,953,948 (GRCm39) L868S possibly damaging Het
Ndst1 G A 18: 60,830,256 (GRCm39) T618M probably damaging Het
Npas1 A T 7: 16,194,899 (GRCm39) probably null Het
Nr2f2 A T 7: 70,004,499 (GRCm39) V384D probably damaging Het
Or10a3b A G 7: 108,444,528 (GRCm39) S230P probably benign Het
Or1e19 A G 11: 73,316,596 (GRCm39) L71P probably damaging Het
Or4p8 T A 2: 88,727,705 (GRCm39) I79F probably damaging Het
Paip1 T A 13: 119,582,337 (GRCm39) F188I probably damaging Het
Pcdha4 A T 18: 37,086,776 (GRCm39) I320L probably benign Het
Peg10 TCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATC T 6: 4,756,427 (GRCm39) probably null Het
Pgpep1 C T 8: 71,103,168 (GRCm39) G110R unknown Het
Pidd1 T A 7: 141,020,252 (GRCm39) H558L possibly damaging Het
Ppp1r1a C T 15: 103,439,776 (GRCm39) probably null Het
Pramel18 T C 4: 101,768,599 (GRCm39) S317P possibly damaging Het
Pramel51 T A 12: 88,142,850 (GRCm39) Y451F probably benign Het
Prkcg A G 7: 3,359,081 (GRCm39) D96G probably benign Het
Prpf40b A G 15: 99,203,899 (GRCm39) N154S probably benign Het
Psg17 A G 7: 18,553,897 (GRCm39) Y118H probably benign Het
Ptpn12 A G 5: 21,214,509 (GRCm39) I209T probably damaging Het
Reln T A 5: 22,181,276 (GRCm39) K1835* probably null Het
Sf3b3 T C 8: 111,564,915 (GRCm39) M298V probably benign Het
Slc5a3 T A 16: 91,874,682 (GRCm39) N246K probably benign Het
Slmap T A 14: 26,151,001 (GRCm39) E522D probably damaging Het
Slmap C T 14: 26,151,003 (GRCm39) E522K probably damaging Het
Tcp10c T A 17: 13,581,260 (GRCm39) L230Q probably damaging Het
Tdo2 A G 3: 81,878,942 (GRCm39) probably null Het
Tet3 A T 6: 83,381,623 (GRCm39) W182R probably damaging Het
Tmem151a T A 19: 5,121,895 (GRCm39) M35L unknown Het
Tom1l2 TTGATGATG TTGATG 11: 60,171,040 (GRCm39) probably benign Het
Trak2 A T 1: 58,960,227 (GRCm39) probably null Het
Trappc11 T A 8: 47,975,449 (GRCm39) E256D possibly damaging Het
Trim62 C T 4: 128,796,346 (GRCm39) T281I probably benign Het
Trip13 T C 13: 74,081,021 (GRCm39) E115G probably benign Het
Trp63 A G 16: 25,620,837 (GRCm39) T10A probably benign Het
Usp39 G A 6: 72,319,891 (GRCm39) T109I probably damaging Het
Wfikkn2 T C 11: 94,128,738 (GRCm39) T468A probably benign Het
Zfhx4 T G 3: 5,477,875 (GRCm39) S3497A probably damaging Het
Zfp85 C T 13: 67,897,184 (GRCm39) R296H 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
IGL02661:Urah APN 7 140,417,618 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- CAGGTCAGCTTTGTTTAGCAC -3'
(R):5'- ACCTCAGTACCATGGCCTAAG -3'

Sequencing Primer
(F):5'- CAGCTTTGTTTAGCACTTGGC -3'
(R):5'- AGTACCATGGCCTAAGGTCTTC -3'
Posted On 2019-10-17