Incidental Mutation 'IGL02060:Uroc1'
ID185384
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 #IGL02060
Quality Score
Status
Chromosome6
Chromosomal Location90333284-90364551 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 90338255 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 133 (S133G)
Ref Sequence ENSEMBL: ENSMUSP00000127114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046128] [ENSMUST00000164761]
Predicted Effect probably benign
Transcript: ENSMUST00000046128
AA Change: S133G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000040424
Gene: ENSMUSG00000034456
AA Change: S133G

DomainStartEndE-ValueType
Pfam:Urocanase 84 662 2.7e-231 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164761
AA Change: S133G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000127114
Gene: ENSMUSG00000034456
AA Change: S133G

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 91,055,715 I178F probably damaging Het
Aff1 T C 5: 103,783,849 V111A possibly damaging Het
Aox1 T G 1: 58,097,955 I1168R possibly damaging Het
Atf6 T C 1: 170,819,420 R295G probably damaging Het
Blm C A 7: 80,514,580 probably benign Het
Cse1l A T 2: 166,930,653 L413F probably damaging Het
Dip2c T C 13: 9,622,630 V1024A probably damaging Het
Fam13c A T 10: 70,553,141 E498V probably damaging Het
Fat4 A G 3: 39,010,271 E4792G probably damaging Het
Gm5065 A G 7: 5,359,564 T65A probably damaging Het
Gm5724 T A 6: 141,754,408 M133L probably benign Het
Gramd1a A T 7: 31,130,571 L151* probably null Het
Igbp1b G T 6: 138,657,984 A154E probably damaging Het
Itga9 A G 9: 118,661,432 K277R probably damaging Het
Klra10 T C 6: 130,272,725 Y199C probably damaging Het
Mospd3 T C 5: 137,600,004 Y85C probably damaging Het
Nol6 C T 4: 41,117,700 A887T probably damaging Het
Olfr1006 C T 2: 85,674,834 V106I probably benign Het
Olfr1197 A T 2: 88,729,563 F12Y probably damaging Het
Olfr1427 A G 19: 12,099,460 Y60H probably damaging Het
Olfr480 G T 7: 108,066,671 F42L probably benign Het
Pcdhb17 A G 18: 37,486,416 T420A probably damaging Het
Pgghg T C 7: 140,946,633 V646A probably benign Het
Prkg2 A G 5: 99,024,515 S114P probably benign Het
Rela G T 19: 5,638,600 K28N probably damaging Het
Rhbdf2 G T 11: 116,600,626 A598E probably damaging Het
Ryr2 C T 13: 11,747,564 D1454N probably damaging Het
Sdk1 C T 5: 141,953,012 L397F possibly damaging Het
Sh3pxd2a C T 19: 47,373,378 probably benign Het
Slc9a2 T A 1: 40,756,293 V518E probably damaging Het
Snapc1 A G 12: 73,968,036 Y105C probably damaging Het
Sult2a8 A G 7: 14,425,401 S98P probably damaging Het
Tmem30c T A 16: 57,290,898 M4L probably benign Het
Trim71 T C 9: 114,513,253 I654V possibly damaging Het
Vmn2r100 A G 17: 19,521,254 N76S possibly damaging Het
Zcchc14 T C 8: 121,603,895 S910G probably damaging 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
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 On2014-05-07