Incidental Mutation 'R4880:Uroc1'
ID 375210
Institutional Source Beutler Lab
Gene Symbol Uroc1
Ensembl Gene ENSMUSG00000034456
Gene Name urocanase domain containing 1
Synonyms
MMRRC Submission 042489-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4880 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 90310266-90341533 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90334519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 577 (R577L)
Ref Sequence ENSEMBL: ENSMUSP00000127114 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046128] [ENSMUST00000164761]
AlphaFold Q8VC12
Predicted Effect probably damaging
Transcript: ENSMUST00000046128
AA Change: R543L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040424
Gene: ENSMUSG00000034456
AA Change: R543L

DomainStartEndE-ValueType
Pfam:Urocanase 84 662 2.7e-231 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164761
AA Change: R577L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127114
Gene: ENSMUSG00000034456
AA Change: R577L

DomainStartEndE-ValueType
Pfam:Urocanase 85 316 1.4e-102 PFAM
Pfam:Urocanase 319 683 8.7e-144 PFAM
Meta Mutation Damage Score 0.9060 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 98% (89/91)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,276,529 (GRCm39) I744T possibly damaging Het
Adgrb1 T A 15: 74,458,871 (GRCm39) F1324L possibly damaging Het
Adm A G 7: 110,228,326 (GRCm39) H230R probably benign Het
Ank2 A T 3: 126,840,475 (GRCm39) probably null Het
Arih1 A T 9: 59,344,168 (GRCm39) F156L possibly damaging Het
Atf6b A G 17: 34,873,529 (GRCm39) H660R probably damaging Het
Bcl9l C A 9: 44,420,007 (GRCm39) Q1101K probably benign Het
Ccdc174 G A 6: 91,876,572 (GRCm39) probably benign Het
Ccdc65 A C 15: 98,620,538 (GRCm39) probably null Het
Cela2a T C 4: 141,549,598 (GRCm39) N59S probably benign Het
Cfap157 A T 2: 32,668,261 (GRCm39) V393E probably damaging Het
Chd1 T C 17: 17,594,916 (GRCm39) F17S probably damaging Het
Cpne3 T C 4: 19,540,827 (GRCm39) I183V probably benign Het
Cyp2d11 C A 15: 82,276,306 (GRCm39) V122L probably benign Het
Dcaf8 C A 1: 172,015,056 (GRCm39) probably benign Het
Dchs1 T A 7: 105,404,937 (GRCm39) D2535V probably benign Het
Eif4a2 G T 16: 22,927,650 (GRCm39) probably benign Het
Fzd4 T A 7: 89,057,109 (GRCm39) D385E probably benign Het
Galnt13 C A 2: 54,950,584 (GRCm39) Q422K probably damaging Het
Gnptab C T 10: 88,268,413 (GRCm39) Q507* probably null Het
Hoxa7 A G 6: 52,194,014 (GRCm39) probably benign Het
Htra1 T A 7: 130,563,813 (GRCm39) V228D probably damaging Het
Idi2l A T 13: 8,990,702 (GRCm39) probably null Het
Ifi203 T A 1: 173,756,716 (GRCm39) probably benign Het
Iqca1l T C 5: 24,754,750 (GRCm39) D340G probably benign Het
Irs1 TGGGGTGGACATCGAACTGAAGGAG TG 1: 82,265,453 (GRCm39) 913 probably null Het
Itga2b G T 11: 102,348,548 (GRCm39) probably benign Het
Itgb1 G T 8: 129,442,631 (GRCm39) R272L probably damaging Het
Kif9 A G 9: 110,330,703 (GRCm39) E343G probably damaging Het
Klhl5 T C 5: 65,316,244 (GRCm39) V97A probably damaging Het
Lama5 C A 2: 179,818,861 (GRCm39) probably benign Het
Lamb2 A G 9: 108,361,226 (GRCm39) probably null Het
Lrp1b T A 2: 41,660,931 (GRCm39) Y59F probably benign Het
Mmrn1 A G 6: 60,953,423 (GRCm39) E568G probably benign Het
Mreg A G 1: 72,201,495 (GRCm39) Y166H probably damaging Het
Myh7 C A 14: 55,216,045 (GRCm39) V1323F probably benign Het
Nr1i3 T A 1: 171,043,951 (GRCm39) I91K probably damaging Het
Nsfl1c T A 2: 151,348,230 (GRCm39) D206E probably damaging Het
Or11g24 T C 14: 50,662,758 (GRCm39) Y261H possibly damaging Het
Or13c3 A T 4: 52,856,411 (GRCm39) M34K probably damaging Het
Or2ak5 G A 11: 58,611,107 (GRCm39) L256F probably benign Het
Or4k44 A T 2: 111,367,698 (GRCm39) L312* probably null Het
Or5k17 A C 16: 58,746,463 (GRCm39) L157W probably damaging Het
Or8b54 T A 9: 38,686,843 (GRCm39) C97* probably null Het
Pcdhb7 C T 18: 37,475,284 (GRCm39) T140I probably benign Het
Pcdhgb5 T G 18: 37,865,641 (GRCm39) S479A probably benign Het
Pcsk5 T A 19: 17,425,054 (GRCm39) Y1583F probably damaging Het
Pias1 T C 9: 62,820,080 (GRCm39) R296G probably benign Het
Plscr1l1 A G 9: 92,236,665 (GRCm39) E108G probably damaging Het
Polr1e T A 4: 45,022,280 (GRCm39) C100S probably damaging Het
Rpap1 C A 2: 119,614,346 (GRCm39) R17L probably damaging Het
Rtn1 C T 12: 72,264,232 (GRCm39) V192I possibly damaging Het
Ryr2 G A 13: 11,767,104 (GRCm39) P1262L probably damaging Het
Slc4a7 G T 14: 14,757,342 (GRCm38) D396Y probably damaging Het
Slc5a8 T C 10: 88,727,886 (GRCm39) Y118H probably damaging Het
Slc7a6os T A 8: 106,937,247 (GRCm39) Q71L probably benign Het
Sphkap A G 1: 83,266,538 (GRCm39) V127A probably damaging Het
Srpk1 A G 17: 28,810,199 (GRCm39) S580P probably damaging Het
Syne2 A G 12: 76,026,593 (GRCm39) I3474V probably damaging Het
Tchh A G 3: 93,351,130 (GRCm39) D190G possibly damaging Het
Tenm4 T A 7: 96,555,025 (GRCm39) probably null Het
Tex14 T A 11: 87,377,121 (GRCm39) I155N possibly damaging Het
Tm7sf3 A T 6: 146,511,358 (GRCm39) V377E possibly damaging Het
Tnfsf9 T A 17: 57,412,433 (GRCm39) M1K probably null Het
Tns2 C T 15: 102,020,474 (GRCm39) T780I probably damaging Het
Trdn T A 10: 33,347,575 (GRCm39) D639E probably benign Het
Trmt10a A G 3: 137,857,972 (GRCm39) E173G possibly damaging Het
Ttn G A 2: 76,649,119 (GRCm39) P10984S possibly damaging Het
Tubb6 C T 18: 67,534,386 (GRCm39) T95M possibly damaging Het
Vmn2r86 T A 10: 130,289,484 (GRCm39) D137V probably benign Het
Xkr7 T C 2: 152,896,873 (GRCm39) Y576H probably damaging Het
Zfp410 A G 12: 84,384,449 (GRCm39) N355D probably damaging Het
Zfp59 C A 7: 27,543,742 (GRCm39) D22E probably damaging Het
Zfp64 C T 2: 168,736,297 (GRCm39) R460H probably damaging Het
Zfp655 T C 5: 145,181,168 (GRCm39) V342A probably damaging Het
Zfp990 G A 4: 145,264,490 (GRCm39) G496E probably benign 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
IGL03087:Uroc1 APN 6 90,340,085 (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
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
Predicted Primers PCR Primer
(F):5'- TATCACACTGATGCCAGCTG -3'
(R):5'- GAACTGCTATGGGTGTGCAC -3'

Sequencing Primer
(F):5'- ACTGATGCCAGCTGGTACAC -3'
(R):5'- TGTGCACCAGTCAGCTG -3'
Posted On 2016-03-17