Incidental Mutation 'R8376:Uroc1'
ID 646674
Institutional Source Beutler Lab
Gene Symbol Uroc1
Ensembl Gene ENSMUSG00000034456
Gene Name urocanase domain containing 1
Synonyms
MMRRC Submission 067744-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8376 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 90310266-90341533 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90314697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 106 (M106L)
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: M106L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040424
Gene: ENSMUSG00000034456
AA Change: M106L

DomainStartEndE-ValueType
Pfam:Urocanase 84 662 2.7e-231 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164761
AA Change: M106L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127114
Gene: ENSMUSG00000034456
AA Change: M106L

DomainStartEndE-ValueType
Pfam:Urocanase 85 316 1.4e-102 PFAM
Pfam:Urocanase 319 683 8.7e-144 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A C 8: 25,409,936 (GRCm39) I173S possibly damaging Het
Ahctf1 T C 1: 179,610,520 (GRCm39) D599G probably damaging Het
Alkal2 G T 12: 30,934,850 (GRCm39) G23V probably damaging Het
Ankrd40 G T 11: 94,225,662 (GRCm39) G231V probably damaging Het
Apba2 T A 7: 64,345,341 (GRCm39) V177D probably benign Het
Atp12a G T 14: 56,612,083 (GRCm39) probably null Het
Birc6 C T 17: 74,896,635 (GRCm39) T1027M probably benign Het
Bmpr2 G A 1: 59,906,515 (GRCm39) R536H probably damaging Het
Brms1l C A 12: 55,888,414 (GRCm39) N67K probably benign Het
Cachd1 G A 4: 100,832,073 (GRCm39) R745H probably damaging Het
Cacnb4 G A 2: 52,354,665 (GRCm39) Q238* probably null Het
Cdc42 G A 4: 137,056,205 (GRCm39) T102I probably benign Het
Cfhr1 A C 1: 139,475,549 (GRCm39) C307W unknown Het
Ddb1 G A 19: 10,596,669 (GRCm39) V463M probably damaging Het
Dhx30 G A 9: 109,917,707 (GRCm39) R365C probably benign Het
Dnah1 A G 14: 31,023,303 (GRCm39) F1005L probably damaging Het
Elp4 A G 2: 105,672,653 (GRCm39) V144A probably benign Het
Enpp2 T A 15: 54,773,491 (GRCm39) N77Y probably damaging Het
Fsip1 C T 2: 118,063,519 (GRCm39) V317I possibly damaging Het
Gc G A 5: 89,586,118 (GRCm39) Q341* probably null Het
Gpt2 A T 8: 86,219,694 (GRCm39) I47F probably benign Het
Ino80 A T 2: 119,272,968 (GRCm39) S503T probably benign Het
Kcnn4 C A 7: 24,077,051 (GRCm39) T200K possibly damaging Het
Krtap4-7 A G 11: 99,534,753 (GRCm39) S37P unknown Het
Lrrc4b T C 7: 44,112,018 (GRCm39) V630A probably benign Het
Man2a2 C T 7: 80,010,671 (GRCm39) W773* probably null Het
Mgrn1 T A 16: 4,733,630 (GRCm39) L192Q probably damaging Het
Mtx1 A G 3: 89,121,478 (GRCm39) V52A probably benign Het
Myc A T 15: 61,859,395 (GRCm39) N24Y possibly damaging Het
Nbea G A 3: 55,551,076 (GRCm39) S2696L possibly damaging Het
Nox4 A G 7: 87,023,592 (GRCm39) N493D probably damaging Het
Or52w1 C A 7: 105,017,847 (GRCm39) P105T probably benign Het
Osbpl10 G A 9: 115,052,661 (GRCm39) G403D probably damaging Het
Pdcd6ip A T 9: 113,518,684 (GRCm39) L192Q probably damaging Het
Pde3a A G 6: 141,426,947 (GRCm39) I703V possibly damaging Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pkd1l3 CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA 8: 110,350,420 (GRCm39) probably benign Het
Plcb3 A G 19: 6,944,071 (GRCm39) S36P probably damaging Het
Plk5 T C 10: 80,196,179 (GRCm39) F279L probably damaging Het
Prl7a1 T G 13: 27,821,638 (GRCm39) E99D probably benign Het
Rnf4 C T 5: 34,508,701 (GRCm39) R188W probably damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGAGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Scel A G 14: 103,809,451 (GRCm39) S264G probably benign Het
Sdk1 A G 5: 142,144,376 (GRCm39) Q1712R possibly damaging Het
Slc15a1 A G 14: 121,718,115 (GRCm39) Y255H probably benign Het
Syne1 C T 10: 4,993,615 (GRCm39) G525D probably benign Het
Taldo1 T C 7: 140,981,788 (GRCm39) V214A probably damaging Het
Tbc1d12 A G 19: 38,889,853 (GRCm39) T428A probably damaging Het
Tlr6 T C 5: 65,112,455 (GRCm39) K151E probably benign Het
Ubr2 T A 17: 47,253,721 (GRCm39) D1468V probably benign Het
Ubtf A C 11: 102,199,737 (GRCm39) Y463D probably damaging Het
Vmn1r55 T A 7: 5,149,869 (GRCm39) I185L probably benign Het
Vmn2r93 T A 17: 18,525,230 (GRCm39) V296D probably damaging Het
Zfp65 A C 13: 67,857,037 (GRCm39) Y81D probably damaging Het
Zw10 A T 9: 48,988,783 (GRCm39) Y683F possibly damaging 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
R4880:Uroc1 UTSW 6 90,334,519 (GRCm39) missense probably damaging 1.00
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
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'- GACGTCTTTCAGGTGCCTTGTC -3'
(R):5'- CTCAGGTGGTTATTAGAAAGCTACAG -3'

Sequencing Primer
(F):5'- CTTGTCAGCTTGGCCAGG -3'
(R):5'- CTAAAGGCCCAATGGCAT -3'
Posted On 2020-09-02