|Institutional Source||Beutler Lab|
|Gene Name||CDP-diacylglycerol synthase 1|
|Synonyms||4833409J18Rik, phosphatidate cytidylyltransferase|
|Is this an essential gene?||Probably non essential (E-score: 0.195)|
|Stock #||R5330 (G1)|
|Chromosomal Location||101765130-101823858 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 101798495 bp|
|Amino Acid Change||Serine to Proline at position 187 (S187P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031273 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031273]|
|Predicted Effect||probably damaging
AA Change: S187P
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S187P
|Meta Mutation Damage Score||0.268|
|Coding Region Coverage||
|Validation Efficiency||99% (95/96)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cds1||
(F):5'- GGGCACATTTTGGATGGATTACC -3'
(R):5'- CTTAAGACCACAGTGGGATAGC -3'
(F):5'- AGGGACTGATTATGTCGTGTCAC -3'
(R):5'- GACCACAGTGGGATAGCTTTATATG -3'