Incidental Mutation 'IGL03087:Uroc1'
ID 418181
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uroc1
Ensembl Gene ENSMUSG00000034456
Gene Name urocanase domain containing 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03087
Quality Score
Status
Chromosome 6
Chromosomal Location 90310266-90341533 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 90340085 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046128] [ENSMUST00000164761]
AlphaFold Q8VC12
Predicted Effect probably benign
Transcript: ENSMUST00000046128
SMART Domains Protein: ENSMUSP00000040424
Gene: ENSMUSG00000034456

DomainStartEndE-ValueType
Pfam:Urocanase 84 662 2.7e-231 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164761
SMART Domains Protein: ENSMUSP00000127114
Gene: ENSMUSG00000034456

DomainStartEndE-ValueType
Pfam:Urocanase 85 316 1.4e-102 PFAM
Pfam:Urocanase 319 683 8.7e-144 PFAM
Coding Region Coverage
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C T 5: 25,202,630 (GRCm39) probably benign Het
Acbd5 A G 2: 22,979,722 (GRCm39) T261A probably benign Het
Ap1g2 G A 14: 55,340,493 (GRCm39) T331I probably damaging Het
Ap4m1 A G 5: 138,173,066 (GRCm39) T150A probably benign Het
Arid4a G T 12: 71,122,019 (GRCm39) R478L possibly damaging Het
Bard1 T C 1: 71,106,289 (GRCm39) D446G probably damaging Het
Baz2a T C 10: 127,958,182 (GRCm39) L1087P probably damaging Het
Bnc1 A G 7: 81,624,390 (GRCm39) L279P possibly damaging Het
Bphl A T 13: 34,257,694 (GRCm39) H275L probably damaging Het
Ces1c T C 8: 93,845,042 (GRCm39) I120V probably benign Het
Csmd3 T A 15: 47,840,429 (GRCm39) Y946F probably damaging Het
Dnah8 G A 17: 31,003,118 (GRCm39) V3606I probably benign Het
Eef2 A G 10: 81,017,081 (GRCm39) N696S probably benign Het
Eno4 A G 19: 58,951,248 (GRCm39) H420R possibly damaging Het
Enpp1 T A 10: 24,531,779 (GRCm39) probably benign Het
Fbxo25 T C 8: 13,974,019 (GRCm39) probably null Het
Glt8d1 T A 14: 30,732,053 (GRCm39) F155I probably damaging Het
Golim4 A T 3: 75,785,980 (GRCm39) H598Q possibly damaging Het
Hnrnpdl T A 5: 100,185,460 (GRCm39) E149D probably damaging Het
Ifngr2 G T 16: 91,359,892 (GRCm39) *333L probably null Het
Ift88 T C 14: 57,715,414 (GRCm39) S486P probably benign Het
Igsf9 T C 1: 172,318,310 (GRCm39) I150T probably benign Het
Jag2 G A 12: 112,877,568 (GRCm39) L670F possibly damaging Het
Kcnc2 T A 10: 112,291,652 (GRCm39) I280N probably benign Het
Kif18a A G 2: 109,148,462 (GRCm39) probably benign Het
Lct A G 1: 128,228,112 (GRCm39) L1127P possibly damaging Het
Lonrf1 A T 8: 36,692,705 (GRCm39) probably null Het
Lyst T A 13: 13,809,641 (GRCm39) I437N probably damaging Het
Map3k1 A G 13: 111,885,559 (GRCm39) S1453P probably benign Het
Mcmdc2 A G 1: 10,001,170 (GRCm39) M482V possibly damaging Het
Mical1 T C 10: 41,358,686 (GRCm39) S535P probably damaging Het
Myh3 T C 11: 66,981,798 (GRCm39) F765L probably damaging Het
Nat8f6 A T 6: 85,785,499 (GRCm39) Y217N probably damaging Het
Ndufaf1 A G 2: 119,486,280 (GRCm39) probably benign Het
Neurod6 A T 6: 55,655,760 (GRCm39) C292* probably null Het
Or12j3 T A 7: 139,953,005 (GRCm39) I173F probably damaging Het
Or4c12b A G 2: 89,647,015 (GRCm39) E109G probably damaging Het
Or5j1 A T 2: 86,879,356 (GRCm39) S75T possibly damaging Het
Or6c76 A T 10: 129,612,130 (GRCm39) M116L probably damaging Het
Or7g16 T C 9: 18,727,380 (GRCm39) D70G probably damaging Het
Pcdhac2 A G 18: 37,278,735 (GRCm39) N572D probably damaging Het
Pfpl A G 19: 12,406,241 (GRCm39) N164S probably benign Het
Pi4kb A G 3: 94,892,075 (GRCm39) R264G probably benign Het
Pla2g2c T A 4: 138,458,923 (GRCm39) F10I probably benign Het
Rag2 G A 2: 101,460,559 (GRCm39) V290I probably benign Het
Rhot2 G A 17: 26,060,115 (GRCm39) probably benign Het
Rps6kc1 T C 1: 190,603,908 (GRCm39) Y238C probably damaging Het
Scyl2 G T 10: 89,488,830 (GRCm39) A495D possibly damaging Het
Septin4 T A 11: 87,476,071 (GRCm39) probably benign Het
Serpina5 G T 12: 104,067,992 (GRCm39) A18S probably benign Het
Slc25a11 T C 11: 70,536,033 (GRCm39) T234A probably benign Het
Slc44a2 C T 9: 21,258,061 (GRCm39) T435I probably benign Het
Tekt2 T A 4: 126,218,660 (GRCm39) Q31L possibly damaging Het
Tfpi A G 2: 84,274,389 (GRCm39) V199A possibly damaging Het
Trap1 G T 16: 3,862,565 (GRCm39) probably null Het
Trmt1 A G 8: 85,421,862 (GRCm39) Y213C probably damaging Het
Ubr4 C T 4: 139,177,668 (GRCm39) R3184* probably null Het
Vmn1r19 A G 6: 57,381,476 (GRCm39) I10V probably benign Het
Zfhx2 G A 14: 55,310,302 (GRCm39) A748V possibly 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
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
R4966: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
Posted On 2016-08-02