|Institutional Source||Beutler Lab|
|Gene Name||cytidine 5'-triphosphate synthase|
|Is this an essential gene?||Probably essential (E-score: 0.951)|
|Stock #||R5045 (G1)|
|Chromosomal Location||120539868-120570276 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to C at 120552878 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000030381 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030381]|
|Predicted Effect||probably null
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids. Activity of this proten is important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ctps||
(F):5'- TTGAGTCTTTGACCAATCCCAAC -3'
(R):5'- AGTCTCCTGATGGCATGGAC -3'
(F):5'- GCTTAATCCCTAAAACTGACATTGTG -3'
(R):5'- GGCATGGACATTACACGTAACTGTC -3'