Incidental Mutation 'IGL02256:Uroc1'
ID286575
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uroc1
Ensembl Gene ENSMUSG00000034456
Gene Nameurocanase domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02256
Quality Score
Status
Chromosome6
Chromosomal Location90333284-90364551 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 90346687 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 372 (D372G)
Ref Sequence ENSEMBL: ENSMUSP00000127114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046128] [ENSMUST00000164761]
Predicted Effect possibly damaging
Transcript: ENSMUST00000046128
AA Change: D338G

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000040424
Gene: ENSMUSG00000034456
AA Change: D338G

DomainStartEndE-ValueType
Pfam:Urocanase 84 662 2.7e-231 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000164761
AA Change: D372G

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127114
Gene: ENSMUSG00000034456
AA Change: D372G

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 T A 2: 91,769,054 V173E possibly damaging Het
BC005561 T A 5: 104,520,283 Y890* probably null Het
BC037034 C A 5: 138,260,315 D557Y probably damaging Het
Dennd4c A G 4: 86,799,541 T592A probably damaging Het
Dhcr24 G A 4: 106,572,320 G197S probably damaging Het
Fat1 A G 8: 44,950,332 Y40C probably damaging Het
Fbxl17 A C 17: 63,499,090 C310G probably benign Het
Hdac10 T C 15: 89,125,894 probably benign Het
Hist1h2bg G T 13: 23,571,435 M1I probably null Het
Mcm6 A G 1: 128,335,728 probably null Het
Mrpl19 G A 6: 81,964,319 T87I probably benign Het
Mzf1 A G 7: 13,052,737 probably benign Het
Nhlrc2 A G 19: 56,597,361 E676G probably benign Het
Notch3 T C 17: 32,132,324 D1899G probably damaging Het
Nxph1 A G 6: 9,247,185 D52G probably benign Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr171 T C 16: 19,625,006 I31M probably benign Het
Olfr418 A T 1: 173,270,627 I151F probably benign Het
Olfr913 G A 9: 38,594,544 V108I probably benign Het
Olfr918 A T 9: 38,673,480 M1K probably null Het
Olfr980 A G 9: 40,006,053 F299L probably benign Het
Pax6 T C 2: 105,684,770 V54A probably benign Het
Pbx1 A T 1: 168,183,602 H376Q possibly damaging Het
Prpf4b T A 13: 34,899,878 C877S probably damaging Het
Robo3 A G 9: 37,425,353 L373P probably damaging Het
Samd9l G A 6: 3,376,197 R355W probably damaging Het
Smarce1 A T 11: 99,219,380 N127K possibly damaging Het
Sptbn1 T C 11: 30,120,990 I1511V probably benign Het
Stab1 C T 14: 31,141,592 R2071H probably damaging Het
Svep1 A T 4: 58,070,311 C2492S possibly damaging Het
Tbr1 C A 2: 61,804,874 T56N probably damaging Het
Tlr6 T C 5: 64,954,944 T207A probably benign Het
Tmem241 A G 18: 12,113,432 W54R probably damaging Het
Tmem87a A G 2: 120,377,896 V326A probably damaging Het
Zc3h7a A C 16: 11,147,276 S664R probably benign Het
Other mutations in Uroc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00963:Uroc1 APN 6 90338828 missense probably benign
IGL01015:Uroc1 APN 6 90358901 splice site probably benign
IGL01386:Uroc1 APN 6 90346765 missense probably damaging 0.99
IGL01449:Uroc1 APN 6 90338653 missense probably damaging 1.00
IGL01514:Uroc1 APN 6 90363100 splice site probably benign
IGL02060:Uroc1 APN 6 90338255 missense probably benign 0.03
IGL02247:Uroc1 APN 6 90347928 missense probably benign 0.00
IGL02886:Uroc1 APN 6 90346829 splice site probably benign
IGL03087:Uroc1 APN 6 90363103 splice site probably benign
PIT4651001:Uroc1 UTSW 6 90363113 nonsense probably null
R0034:Uroc1 UTSW 6 90345310 missense probably damaging 1.00
R0245:Uroc1 UTSW 6 90344197 missense probably damaging 1.00
R0402:Uroc1 UTSW 6 90347302 missense probably damaging 1.00
R0570:Uroc1 UTSW 6 90338564 missense possibly damaging 0.90
R0729:Uroc1 UTSW 6 90336955 missense probably damaging 1.00
R1471:Uroc1 UTSW 6 90344171 missense probably damaging 1.00
R1782:Uroc1 UTSW 6 90336919 missense probably damaging 1.00
R1866:Uroc1 UTSW 6 90361524 missense probably benign 0.03
R1983:Uroc1 UTSW 6 90345369 missense probably damaging 1.00
R2086:Uroc1 UTSW 6 90344114 missense probably damaging 1.00
R2321:Uroc1 UTSW 6 90347247 missense possibly damaging 0.94
R3720:Uroc1 UTSW 6 90346355 missense probably damaging 1.00
R3874:Uroc1 UTSW 6 90361512 nonsense probably null
R4628:Uroc1 UTSW 6 90355328 missense probably damaging 0.99
R4810:Uroc1 UTSW 6 90363153 missense probably damaging 1.00
R4820:Uroc1 UTSW 6 90357618 critical splice donor site probably null
R4838:Uroc1 UTSW 6 90349192 missense possibly damaging 0.90
R4880:Uroc1 UTSW 6 90357537 missense probably damaging 1.00
R4964:Uroc1 UTSW 6 90345394 missense probably damaging 0.98
R4966:Uroc1 UTSW 6 90345394 missense probably damaging 0.98
R5468:Uroc1 UTSW 6 90338604 missense probably benign 0.45
R5592:Uroc1 UTSW 6 90355344 missense probably damaging 0.99
R5698:Uroc1 UTSW 6 90347320 missense probably damaging 1.00
R5789:Uroc1 UTSW 6 90344197 missense probably damaging 1.00
R5853:Uroc1 UTSW 6 90346756 missense probably damaging 0.99
R6063:Uroc1 UTSW 6 90347928 missense probably benign 0.37
R6883:Uroc1 UTSW 6 90338592 nonsense probably null
R7374:Uroc1 UTSW 6 90338833 missense probably damaging 1.00
R7394:Uroc1 UTSW 6 90345333 missense probably damaging 1.00
R7427:Uroc1 UTSW 6 90346362 missense possibly damaging 0.56
R8376:Uroc1 UTSW 6 90337715 missense probably damaging 0.99
X0021:Uroc1 UTSW 6 90344150 missense probably benign 0.40
Posted On2015-04-16