Incidental Mutation 'R4966:Uroc1'
ID 383999
Institutional Source Beutler Lab
Gene Symbol Uroc1
Ensembl Gene ENSMUSG00000034456
Gene Name urocanase domain containing 1
Synonyms
MMRRC Submission 042562-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4966 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 90310266-90341533 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90322376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 300 (L300P)
Ref Sequence ENSEMBL: ENSMUSP00000127114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046128] [ENSMUST00000164761]
AlphaFold Q8VC12
Predicted Effect probably damaging
Transcript: ENSMUST00000046128
AA Change: L300P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000040424
Gene: ENSMUSG00000034456
AA Change: L300P

DomainStartEndE-ValueType
Pfam:Urocanase 84 662 2.7e-231 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164761
AA Change: L300P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127114
Gene: ENSMUSG00000034456
AA Change: L300P

DomainStartEndE-ValueType
Pfam:Urocanase 85 316 1.4e-102 PFAM
Pfam:Urocanase 319 683 8.7e-144 PFAM
Meta Mutation Damage Score 0.7500 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.6%
Validation Efficiency 96% (94/98)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme involved in histidine catabolism, metabolizing urocanic acid to formiminoglutamic acid. The gene product is known to protect the skin from ultra violet rays and is contained in human sweat. Deficiency of this gene product in the liver is an apparent cause of mental retardation. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,610,757 (GRCm39) probably benign Het
9030619P08Rik T A 15: 75,303,267 (GRCm39) noncoding transcript Het
Abcb5 T A 12: 118,850,626 (GRCm39) probably benign Het
Acox3 A G 5: 35,747,080 (GRCm39) N166D probably damaging Het
Actn1 T C 12: 80,219,904 (GRCm39) I656V probably benign Het
Arhgef15 A G 11: 68,838,143 (GRCm39) V659A probably benign Het
AW551984 T C 9: 39,508,472 (GRCm39) E348G possibly damaging Het
Bbs2 A T 8: 94,807,435 (GRCm39) V453E probably damaging Het
Caskin1 A T 17: 24,726,135 (GRCm39) D1414V probably damaging Het
Ccdc57 A T 11: 120,751,978 (GRCm39) S868T probably benign Het
Cdc34b A T 11: 94,633,087 (GRCm39) I96F probably damaging Het
Ctnnd1 A G 2: 84,452,417 (GRCm39) F69L possibly damaging Het
Cyld A G 8: 89,468,929 (GRCm39) I567V possibly damaging Het
Dact3 G C 7: 16,620,013 (GRCm39) V503L unknown Het
Dlg1 C T 16: 31,573,626 (GRCm39) T9I probably benign Het
Dnase1 T C 16: 3,855,771 (GRCm39) probably benign Het
Drc7 G A 8: 95,798,224 (GRCm39) E490K probably benign Het
Drd4 T C 7: 140,873,690 (GRCm39) M114T probably damaging Het
Exoc3l4 A G 12: 111,395,155 (GRCm39) H591R probably benign Het
Fgfr1 C A 8: 26,062,461 (GRCm39) Y665* probably null Het
G2e3 A G 12: 51,418,413 (GRCm39) I603V probably benign Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gnat1 A T 9: 107,554,433 (GRCm39) M115K probably benign Het
Gpr45 A G 1: 43,072,280 (GRCm39) T308A probably benign Het
Grm1 T A 10: 10,595,409 (GRCm39) K740* probably null Het
Gtsf2 T C 15: 103,352,755 (GRCm39) E88G possibly damaging Het
Hsh2d C T 8: 72,947,372 (GRCm39) A23V probably benign Het
Ino80c T C 18: 24,239,702 (GRCm39) D153G probably damaging Het
Ints11 T C 4: 155,971,385 (GRCm39) F278L probably damaging Het
Ints6 A G 14: 62,939,911 (GRCm39) L593P probably damaging Het
Map4k1 A T 7: 28,682,427 (GRCm39) H16L probably benign Het
Mipep G T 14: 61,022,231 (GRCm39) R32L probably damaging Het
Mon1a A G 9: 107,779,850 (GRCm39) E473G probably damaging Het
Myf5 A T 10: 107,321,733 (GRCm39) C20* probably null Het
Myh11 T C 16: 14,023,818 (GRCm39) E1512G probably damaging Het
Myo5c T C 9: 75,176,878 (GRCm39) S608P probably benign Het
Myo9a A G 9: 59,779,017 (GRCm39) D1591G probably benign Het
Myof T A 19: 37,924,300 (GRCm39) I1306F probably damaging Het
Nlgn1 C T 3: 25,974,401 (GRCm39) G165D possibly damaging Het
Noc2l C G 4: 156,330,368 (GRCm39) D513E probably damaging Het
Nup205 G A 6: 35,220,784 (GRCm39) R1862H probably benign Het
Nup210l A G 3: 90,014,208 (GRCm39) H65R probably benign Het
Or2y16 A G 11: 49,334,945 (GRCm39) D89G possibly damaging Het
Or9k7 A T 10: 130,046,306 (GRCm39) M231K probably benign Het
Pcmtd1 C A 1: 7,231,233 (GRCm39) Y176* probably null Het
Pde6h C T 6: 136,938,201 (GRCm39) T58I possibly damaging Het
Pkd1 T C 17: 24,805,042 (GRCm39) probably null Het
Polr1e G A 4: 45,029,429 (GRCm39) A297T probably damaging Het
Rbm34 T C 8: 127,678,087 (GRCm39) D269G possibly damaging Het
Rdx T C 9: 51,986,309 (GRCm39) V372A probably benign Het
Reep6 T A 10: 80,169,633 (GRCm39) F107Y probably benign Het
Rere G T 4: 150,698,273 (GRCm39) probably benign Het
Rmdn2 G T 17: 79,974,304 (GRCm39) A266S probably damaging Het
Rnf32 G A 5: 29,403,576 (GRCm39) R7H probably benign Het
Rnpepl1 A T 1: 92,844,483 (GRCm39) N325I probably damaging Het
Rps6ka5 T A 12: 100,519,325 (GRCm39) M763L probably benign Het
Ryr2 T C 13: 11,729,497 (GRCm39) E2375G possibly damaging Het
Ryr2 T C 13: 11,848,878 (GRCm39) T361A probably benign Het
Serpina3j T A 12: 104,286,043 (GRCm39) C399* probably null Het
Serpinb9 T A 13: 33,192,847 (GRCm39) W135R probably damaging Het
Sim2 T C 16: 93,924,280 (GRCm39) V475A probably benign Het
Slc24a5 G A 2: 124,910,188 (GRCm39) V30I probably benign Het
Snrnp25 A G 11: 32,157,595 (GRCm39) K58E probably damaging Het
Stx1b T C 7: 127,407,093 (GRCm39) I55V probably damaging Het
Tacc2 T C 7: 130,330,507 (GRCm39) S264P probably damaging Het
Tbc1d4 A T 14: 101,695,610 (GRCm39) Y943N probably damaging Het
Tlr5 T C 1: 182,801,038 (GRCm39) I114T probably benign Het
Tm2d3 A G 7: 65,347,469 (GRCm39) N101S possibly damaging Het
Tmem201 G T 4: 149,803,144 (GRCm39) Q575K probably benign Het
Tmem241 A G 18: 12,237,176 (GRCm39) S87P probably damaging Het
Trak2 G A 1: 58,958,480 (GRCm39) T267I probably damaging Het
Trmt2a T A 16: 18,067,418 (GRCm39) C30* probably null Het
Ttbk2 A T 2: 120,603,758 (GRCm39) F258L possibly damaging Het
Ttk T A 9: 83,747,201 (GRCm39) I680N probably benign Het
Ttn T C 2: 76,785,380 (GRCm39) D665G probably damaging Het
Tulp4 G A 17: 6,249,088 (GRCm39) E36K probably damaging Het
Unc93b1 T C 19: 3,992,023 (GRCm39) probably null Het
Vmn2r67 A T 7: 84,785,593 (GRCm39) V804E probably damaging Het
Wdr81 T A 11: 75,336,775 (GRCm39) Q1538L probably benign Het
Zfp457 T A 13: 67,441,342 (GRCm39) H315L probably damaging Het
Zfp518a T A 19: 40,904,295 (GRCm39) V1408D possibly damaging Het
Zfp52 T G 17: 21,780,665 (GRCm39) L171R probably benign Het
Zfp712 C T 13: 67,188,676 (GRCm39) C617Y probably damaging Het
Zfp770 T C 2: 114,027,868 (GRCm39) N67S probably benign Het
Zmat4 T C 8: 24,392,085 (GRCm39) S83P probably damaging Het
Other mutations in Uroc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00963:Uroc1 APN 6 90,315,810 (GRCm39) missense probably benign
IGL01015:Uroc1 APN 6 90,335,883 (GRCm39) splice site probably benign
IGL01386:Uroc1 APN 6 90,323,747 (GRCm39) missense probably damaging 0.99
IGL01449:Uroc1 APN 6 90,315,635 (GRCm39) missense probably damaging 1.00
IGL01514:Uroc1 APN 6 90,340,082 (GRCm39) splice site probably benign
IGL02060:Uroc1 APN 6 90,315,237 (GRCm39) missense probably benign 0.03
IGL02247:Uroc1 APN 6 90,324,910 (GRCm39) missense probably benign 0.00
IGL02256:Uroc1 APN 6 90,323,669 (GRCm39) missense possibly damaging 0.83
IGL02886:Uroc1 APN 6 90,323,811 (GRCm39) splice site probably benign
IGL03087:Uroc1 APN 6 90,340,085 (GRCm39) splice site probably benign
PIT4651001:Uroc1 UTSW 6 90,340,095 (GRCm39) nonsense probably null
R0034:Uroc1 UTSW 6 90,322,292 (GRCm39) missense probably damaging 1.00
R0245:Uroc1 UTSW 6 90,321,179 (GRCm39) missense probably damaging 1.00
R0402:Uroc1 UTSW 6 90,324,284 (GRCm39) missense probably damaging 1.00
R0570:Uroc1 UTSW 6 90,315,546 (GRCm39) missense possibly damaging 0.90
R0729:Uroc1 UTSW 6 90,313,937 (GRCm39) missense probably damaging 1.00
R1471:Uroc1 UTSW 6 90,321,153 (GRCm39) missense probably damaging 1.00
R1782:Uroc1 UTSW 6 90,313,901 (GRCm39) missense probably damaging 1.00
R1866:Uroc1 UTSW 6 90,338,506 (GRCm39) missense probably benign 0.03
R1983:Uroc1 UTSW 6 90,322,351 (GRCm39) missense probably damaging 1.00
R2086:Uroc1 UTSW 6 90,321,096 (GRCm39) missense probably damaging 1.00
R2321:Uroc1 UTSW 6 90,324,229 (GRCm39) missense possibly damaging 0.94
R3720:Uroc1 UTSW 6 90,323,337 (GRCm39) missense probably damaging 1.00
R3874:Uroc1 UTSW 6 90,338,494 (GRCm39) nonsense probably null
R4628:Uroc1 UTSW 6 90,332,310 (GRCm39) missense probably damaging 0.99
R4810:Uroc1 UTSW 6 90,340,135 (GRCm39) missense probably damaging 1.00
R4820:Uroc1 UTSW 6 90,334,600 (GRCm39) critical splice donor site probably null
R4838:Uroc1 UTSW 6 90,326,174 (GRCm39) missense possibly damaging 0.90
R4880:Uroc1 UTSW 6 90,334,519 (GRCm39) missense probably damaging 1.00
R4964:Uroc1 UTSW 6 90,322,376 (GRCm39) missense probably damaging 0.98
R5468:Uroc1 UTSW 6 90,315,586 (GRCm39) missense probably benign 0.45
R5592:Uroc1 UTSW 6 90,332,326 (GRCm39) missense probably damaging 0.99
R5698:Uroc1 UTSW 6 90,324,302 (GRCm39) missense probably damaging 1.00
R5789:Uroc1 UTSW 6 90,321,179 (GRCm39) missense probably damaging 1.00
R5853:Uroc1 UTSW 6 90,323,738 (GRCm39) missense probably damaging 0.99
R6063:Uroc1 UTSW 6 90,324,910 (GRCm39) missense probably benign 0.37
R6883:Uroc1 UTSW 6 90,315,574 (GRCm39) nonsense probably null
R7374:Uroc1 UTSW 6 90,315,815 (GRCm39) missense probably damaging 1.00
R7394:Uroc1 UTSW 6 90,322,315 (GRCm39) missense probably damaging 1.00
R7427:Uroc1 UTSW 6 90,323,344 (GRCm39) missense possibly damaging 0.56
R8224:Uroc1 UTSW 6 90,321,049 (GRCm39) splice site probably null
R8376:Uroc1 UTSW 6 90,314,697 (GRCm39) missense probably damaging 0.99
R8807:Uroc1 UTSW 6 90,328,110 (GRCm39) missense probably damaging 1.00
R8857:Uroc1 UTSW 6 90,334,510 (GRCm39) missense possibly damaging 0.74
R9418:Uroc1 UTSW 6 90,313,880 (GRCm39) missense probably benign 0.00
R9440:Uroc1 UTSW 6 90,322,353 (GRCm39) missense possibly damaging 0.94
X0021:Uroc1 UTSW 6 90,321,132 (GRCm39) missense probably benign 0.40
Predicted Primers PCR Primer
(F):5'- GAAACCATGTCTCAGTAGCCC -3'
(R):5'- GCCAGCAGCAATAATCCATGG -3'

Sequencing Primer
(F):5'- CCCTAAGGCTGCATCATGAAAGTG -3'
(R):5'- GAAAATGGGATAGCTAGAGACCCTCC -3'
Posted On 2016-04-27