Incidental Mutation 'IGL02247:Uroc1'
ID286216
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 #IGL02247
Quality Score
Status
Chromosome6
Chromosomal Location90333284-90364551 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 90347928 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 461 (E461G)
Ref Sequence ENSEMBL: ENSMUSP00000127114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046128] [ENSMUST00000164761]
Predicted Effect probably benign
Transcript: ENSMUST00000046128
AA Change: E427G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000040424
Gene: ENSMUSG00000034456
AA Change: E427G

DomainStartEndE-ValueType
Pfam:Urocanase 84 662 2.7e-231 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164761
AA Change: E461G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000127114
Gene: ENSMUSG00000034456
AA Change: E461G

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl2 A G 2: 27,084,893 R177G probably damaging Het
Ap3b1 T C 13: 94,394,795 probably null Het
Ascc3 A C 10: 50,650,590 K595T probably damaging Het
Cnpy4 A G 5: 138,192,863 T234A probably benign Het
Col13a1 T C 10: 61,961,345 Y101C probably damaging Het
Crybg3 A G 16: 59,503,150 I2809T probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dgkz T C 2: 91,937,460 S824G probably benign Het
Dsg1c T A 18: 20,264,316 I27N probably damaging Het
Efhb C T 17: 53,401,624 V673I probably benign Het
Egr1 T C 18: 34,862,863 Y233H possibly damaging Het
Fam184a T C 10: 53,675,160 E237G probably damaging Het
Galt A G 4: 41,755,623 probably benign Het
Gm4795 T C 10: 45,007,115 noncoding transcript Het
Gm6563 G A 19: 23,676,028 E61K possibly damaging Het
Igkv1-133 G A 6: 67,725,606 V103M probably damaging Het
Iqcb1 T A 16: 36,839,896 H140Q probably benign Het
Itpk1 G T 12: 102,623,409 P74Q probably damaging Het
Itpr3 T A 17: 27,098,179 W803R probably damaging Het
Lgr4 C T 2: 110,008,075 probably benign Het
Lgr4 A T 2: 110,002,501 D312V probably benign Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mllt6 C A 11: 97,670,332 A282E probably benign Het
Mtif2 T C 11: 29,540,642 S449P possibly damaging Het
Nrg3 T C 14: 38,371,312 I533M probably damaging Het
Nynrin C T 14: 55,871,710 Q1425* probably null Het
Olfr1148 A G 2: 87,833,529 I163M probably damaging Het
Olfr1184 C T 2: 88,487,427 H232Y probably benign Het
Olfr1469 T A 19: 13,411,467 S299R probably benign Het
Olfr397 A T 11: 73,964,862 M85L probably benign Het
Olfr679 T A 7: 105,086,323 Y202* probably null Het
Olfr733 T A 14: 50,299,114 N65I probably damaging Het
Olfr869 G A 9: 20,137,220 V35I probably benign Het
Plcb4 C T 2: 135,994,325 T20I possibly damaging Het
Ppp1r12b G T 1: 134,835,983 T771K probably benign Het
Prss22 T C 17: 23,996,389 T138A probably benign Het
Ros1 A T 10: 52,129,581 S907T probably damaging Het
Rtel1 T A 2: 181,351,341 Y521* probably null Het
Sacs T C 14: 61,192,535 F678S probably damaging Het
Smtnl1 A T 2: 84,817,028 probably benign Het
Sumf2 T C 5: 129,860,145 V258A probably damaging Het
Tas1r2 A T 4: 139,669,516 Y722F probably damaging Het
Tecpr1 A G 5: 144,206,554 F668L possibly damaging Het
Timd4 T C 11: 46,815,731 F120S probably damaging Het
Tnnt3 T C 7: 142,508,325 probably benign Het
Trp53bp1 G A 2: 121,236,589 S552F probably damaging Het
Txlnb A G 10: 17,841,528 probably benign Het
Txlnb G A 10: 17,830,342 R333Q possibly damaging Het
Vps45 G A 3: 96,042,924 T231I probably damaging Het
Zfp648 T A 1: 154,204,177 S27R 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
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 On2015-04-16