|Institutional Source||Beutler Lab|
|Gene Name||uridine monophosphate synthetase|
|Is this an essential gene?||Probably essential (E-score: 0.966)|
|Stock #||R4428 (G1)|
|Chromosomal Location||33954782-33967038 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 33961586 bp|
|Amino Acid Change||Valine to Glycine at position 322 (V322G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023510 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023510] [ENSMUST00000131990]|
|Predicted Effect||probably damaging
AA Change: V322G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: V322G
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.394|
|Coding Region Coverage||
|Validation Efficiency||100% (46/46)|
|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||
|Other mutations in Umps||
(F):5'- AGAGGCGTGGAATTCCCTAC -3'
(R):5'- CAATCTGTGTCTGTCTGCCGATG -3'
(F):5'- TACCTGGGAAACAAATCAACAAAG -3'
(R):5'- ATGTGTCGGAGGCCAGG -3'