Incidental Mutation 'IGL01015:Uroc1'
ID53623
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 #IGL01015
Quality Score
Status
Chromosome6
Chromosomal Location90333284-90364551 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 90358901 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046128] [ENSMUST00000164761]
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik T C 7: 28,155,318 C1790R probably damaging Het
Ano4 A G 10: 89,035,099 Y238H probably damaging Het
Apol7a T C 15: 77,389,855 probably benign Het
Cacna1d A T 14: 30,051,742 probably benign Het
Col12a1 A G 9: 79,633,741 V2368A probably damaging Het
Creb3l4 A G 3: 90,242,831 M1T probably null Het
Dpys T C 15: 39,846,649 D128G probably damaging Het
Ero1lb A G 13: 12,601,734 probably null Het
Fcgr4 A G 1: 171,025,789 S188G possibly damaging Het
Fry A G 5: 150,422,787 D1587G probably benign Het
Gm43638 T A 5: 87,486,614 R45* probably null Het
Gm7647 T A 5: 94,963,887 C152S probably benign Het
Golga3 T G 5: 110,187,717 M299R probably benign Het
Iqub A T 6: 24,501,006 probably benign Het
Irak3 A T 10: 120,142,790 Y493* probably null Het
Jakmip1 G T 5: 37,085,406 E13* probably null Het
Morc3 G A 16: 93,862,646 C446Y probably damaging Het
Mroh2b G A 15: 4,941,542 D1010N probably damaging Het
Olfr1034 A T 2: 86,046,652 M57L possibly damaging Het
Olfr1388 T A 11: 49,444,374 N174K probably damaging Het
Olfr301 A G 7: 86,412,790 T184A probably damaging Het
Pkhd1 G A 1: 20,523,258 H1544Y possibly damaging Het
Rps2-ps10 C T 18: 61,259,825 probably benign Het
Smco1 T C 16: 32,274,069 V186A probably damaging Het
Snx1 C T 9: 66,094,431 E314K possibly damaging Het
Timd2 T C 11: 46,676,343 Y255C probably benign Het
Tnc A T 4: 64,017,334 I455K probably benign Het
Tsc22d1 A G 14: 76,418,741 I31V possibly damaging Het
Tyk2 A G 9: 21,120,700 S360P probably benign Het
Vmn1r122 A T 7: 21,133,836 V98E probably damaging Het
Other mutations in Uroc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00963:Uroc1 APN 6 90338828 missense 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
IGL02256:Uroc1 APN 6 90346687 missense possibly damaging 0.83
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 On2013-06-28