Incidental Mutation 'R4125:Umps'
ID 315374
Institutional Source Beutler Lab
Gene Symbol Umps
Ensembl Gene ENSMUSG00000022814
Gene Name uridine monophosphate synthetase
Synonyms 1700095D23Rik
MMRRC Submission 041633-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R4125 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 33775152-33787408 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 33777288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 431 (Q431*)
Ref Sequence ENSEMBL: ENSMUSP00000023510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023510] [ENSMUST00000131990]
AlphaFold P13439
Predicted Effect probably null
Transcript: ENSMUST00000023510
AA Change: Q431*
SMART Domains Protein: ENSMUSP00000023510
Gene: ENSMUSG00000022814
AA Change: Q431*

DomainStartEndE-ValueType
Pfam:Pribosyltran 40 166 3.3e-14 PFAM
Blast:OMPdecase 190 237 1e-12 BLAST
OMPdecase 253 466 4.17e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131990
SMART Domains Protein: ENSMUSP00000119423
Gene: ENSMUSG00000022814

DomainStartEndE-ValueType
SCOP:d1lh0a_ 6 53 2e-5 SMART
PDB:2WNS|B 7 57 6e-25 PDB
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam30 T A 3: 98,068,679 (GRCm39) C43S probably damaging Het
Adamts6 A T 13: 104,449,412 (GRCm39) Y274F probably damaging Het
Ap2b1 A G 11: 83,256,471 (GRCm39) probably null Het
Atm A C 9: 53,361,921 (GRCm39) L2732R probably damaging Het
Bbox1 A G 2: 110,100,525 (GRCm39) V224A probably benign Het
Bmpr1a T C 14: 34,156,690 (GRCm39) D112G probably benign Het
Cdk19 A G 10: 40,270,391 (GRCm39) I67V probably benign Het
Cds2 A G 2: 132,139,191 (GRCm39) T145A probably benign Het
Chd9 A G 8: 91,777,912 (GRCm39) D2641G probably damaging Het
Chn2 G T 6: 54,249,963 (GRCm39) R24M probably damaging Het
Chuk T C 19: 44,088,613 (GRCm39) I121V probably null Het
Ctsr A T 13: 61,309,659 (GRCm39) D183E probably benign Het
Elp3 T C 14: 65,797,630 (GRCm39) E347G possibly damaging Het
Fhip1a A G 3: 85,572,690 (GRCm39) S988P possibly damaging Het
Gnas A G 2: 174,141,958 (GRCm39) N709S possibly damaging Het
Gramd2b T C 18: 56,618,296 (GRCm39) S199P probably damaging Het
Gtf3c1 A T 7: 125,246,622 (GRCm39) C1562* probably null Het
Ifit1bl1 T A 19: 34,572,188 (GRCm39) I90F probably damaging Het
Igf2r A T 17: 12,921,141 (GRCm39) H1313Q possibly damaging Het
Ighj4 T C 12: 113,392,176 (GRCm39) probably benign Het
Kansl2 G T 15: 98,429,636 (GRCm39) P132Q possibly damaging Het
Lman1 T C 18: 66,120,932 (GRCm39) H430R possibly damaging Het
Lrrk2 T C 15: 91,699,686 (GRCm39) I2511T probably benign Het
Lvrn C A 18: 47,010,036 (GRCm39) P395T possibly damaging Het
Myrip C A 9: 120,293,764 (GRCm39) S753* probably null Het
Nectin4 A G 1: 171,213,301 (GRCm39) S408G probably benign Het
Or14j8 A G 17: 38,263,681 (GRCm39) I78T probably benign Het
Or52ae9 T C 7: 103,390,207 (GRCm39) K80R probably benign Het
Pcdhb13 T C 18: 37,576,873 (GRCm39) I417T probably damaging Het
Per2 T C 1: 91,357,172 (GRCm39) T664A possibly damaging Het
Plec A T 15: 76,056,962 (GRCm39) L4347Q probably damaging Het
Poln A G 5: 34,261,295 (GRCm39) S561P probably benign Het
Polr1a T C 6: 71,942,690 (GRCm39) F1177L probably benign Het
Pramel24 C T 4: 143,452,850 (GRCm39) R94* probably null Het
Ptprb A T 10: 116,189,754 (GRCm39) R1804S probably benign Het
Rhof C T 5: 123,257,588 (GRCm39) V181M probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc22a12 T C 19: 6,588,818 (GRCm39) E281G probably damaging Het
Slco6b1 T A 1: 96,915,622 (GRCm39) noncoding transcript Het
Stac C A 9: 111,433,126 (GRCm39) probably null Het
Tcof1 C A 18: 60,952,673 (GRCm39) A898S unknown Het
Tep1 C T 14: 51,081,191 (GRCm39) R1349Q possibly damaging Het
Thoc6 A T 17: 23,888,319 (GRCm39) probably benign Het
Tmem179 A T 12: 112,477,461 (GRCm39) F8I possibly damaging Het
Tnpo3 A G 6: 29,560,091 (GRCm39) L684P probably damaging Het
Ubash3a T C 17: 31,456,249 (GRCm39) Y506H probably damaging Het
Unc13c A G 9: 73,481,289 (GRCm39) probably null Het
Vmn1r210 A T 13: 23,011,779 (GRCm39) M169K probably benign Het
Zfp946 C T 17: 22,673,548 (GRCm39) Q101* probably null Het
Other mutations in Umps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Umps APN 16 33,787,272 (GRCm39) missense probably damaging 1.00
IGL02833:Umps APN 16 33,782,523 (GRCm39) nonsense probably null
R0584:Umps UTSW 16 33,779,494 (GRCm39) missense probably damaging 1.00
R2888:Umps UTSW 16 33,784,240 (GRCm39) missense probably damaging 1.00
R4428:Umps UTSW 16 33,781,956 (GRCm39) missense probably damaging 1.00
R5261:Umps UTSW 16 33,787,344 (GRCm39) missense probably benign 0.00
R6030:Umps UTSW 16 33,782,508 (GRCm39) missense probably benign
R6030:Umps UTSW 16 33,782,508 (GRCm39) missense probably benign
R7066:Umps UTSW 16 33,782,103 (GRCm39) nonsense probably null
R8303:Umps UTSW 16 33,784,240 (GRCm39) missense possibly damaging 0.88
R9369:Umps UTSW 16 33,777,206 (GRCm39) missense probably benign 0.01
Z1088:Umps UTSW 16 33,787,195 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- AGTGTCTTCTGTCTCACTGAAC -3'
(R):5'- CCTAGGCCTTTAAAGATTGAAGGC -3'

Sequencing Primer
(F):5'- TTCTGTCTCACTGAACAGCAAG -3'
(R):5'- GGCAAATTTCTGAGTTCAAGGCC -3'
Posted On 2015-05-14