Incidental Mutation 'IGL02973:Cds1'
ID365886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cds1
Ensembl Gene ENSMUSG00000029330
Gene NameCDP-diacylglycerol synthase 1
Synonyms4833409J18Rik, phosphatidate cytidylyltransferase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #IGL02973
Quality Score
Status
Chromosome5
Chromosomal Location101765130-101823858 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101812510 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 276 (T276A)
Ref Sequence ENSEMBL: ENSMUSP00000031273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031273]
Predicted Effect probably damaging
Transcript: ENSMUST00000031273
AA Change: T276A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031273
Gene: ENSMUSG00000029330
AA Change: T276A

DomainStartEndE-ValueType
low complexity region 7 29 N/A INTRINSIC
Pfam:CTP_transf_1 87 417 6.4e-89 PFAM
low complexity region 427 439 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200599
Coding Region Coverage
Validation Efficiency
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
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,731,133 L193P probably benign Het
Ago2 A T 15: 73,123,465 probably benign Het
Ankrd26 A G 6: 118,523,550 S987P probably damaging Het
Ap2a2 T C 7: 141,631,364 F938L possibly damaging Het
Arhgap35 A G 7: 16,562,878 V754A possibly damaging Het
Atp10b A T 11: 43,197,509 N314I probably damaging Het
Atp5a1 T C 18: 77,780,149 V291A probably damaging Het
Ccm2 C A 11: 6,584,544 P19T probably damaging Het
Cdc5l C A 17: 45,404,647 A680S probably benign Het
Cit A G 5: 116,005,999 R1976G possibly damaging Het
Col6a5 T C 9: 105,925,821 D1315G unknown Het
Emilin1 T G 5: 30,920,663 L922R probably damaging Het
Fank1 T C 7: 133,876,849 L213P probably damaging Het
Foxc2 T C 8: 121,118,049 S479P probably benign Het
Gm14548 T C 7: 3,897,240 Y121C probably damaging Het
Golgb1 G A 16: 36,912,080 R563H possibly damaging Het
Hoxb13 A G 11: 96,194,843 Y134C probably damaging Het
Krtap4-16 A T 11: 99,851,341 C78S possibly damaging Het
Lars C T 18: 42,214,759 probably null Het
Lipe T C 7: 25,383,632 N740S probably damaging Het
Mbd1 C T 18: 74,275,427 probably benign Het
Mbd5 A G 2: 49,313,709 D1700G probably damaging Het
Mpp7 A G 18: 7,403,297 Y338H probably damaging Het
Pdgfrl A G 8: 40,985,594 D189G probably damaging Het
Plxnc1 T C 10: 94,810,684 N1293S probably damaging Het
Ppm1e C A 11: 87,240,662 A302S probably damaging Het
Rassf8 A G 6: 145,817,190 probably benign Het
Rttn T C 18: 88,972,494 W52R probably damaging Het
Skint8 T C 4: 111,939,593 V298A probably benign Het
Tulp1 A T 17: 28,358,542 probably benign Het
Unc5c T A 3: 141,788,890 D321E probably benign Het
Usp16 G A 16: 87,479,739 C654Y probably damaging Het
Vwce G A 19: 10,655,400 W575* probably null Het
Wdr89 T G 12: 75,633,099 D127A probably damaging Het
Zc3h6 G A 2: 128,997,795 R176Q probably damaging Het
Zfp942 A G 17: 21,932,991 probably null Het
Other mutations in Cds1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Cds1 APN 5 101809901 missense probably damaging 0.99
IGL02052:Cds1 APN 5 101814472 missense probably benign 0.01
IGL02238:Cds1 APN 5 101814436 missense possibly damaging 0.84
IGL02449:Cds1 APN 5 101815928 missense probably damaging 1.00
IGL02833:Cds1 APN 5 101814466 missense possibly damaging 0.81
IGL02987:Cds1 APN 5 101812525 missense possibly damaging 0.85
R0076:Cds1 UTSW 5 101817840 splice site probably benign
R0200:Cds1 UTSW 5 101814433 missense probably damaging 0.97
R0285:Cds1 UTSW 5 101797038 missense probably damaging 1.00
R0608:Cds1 UTSW 5 101814433 missense probably damaging 0.97
R0932:Cds1 UTSW 5 101797025 missense probably damaging 0.99
R1444:Cds1 UTSW 5 101798379 missense probably damaging 1.00
R1585:Cds1 UTSW 5 101817962 splice site probably benign
R1781:Cds1 UTSW 5 101812550 missense possibly damaging 0.78
R2126:Cds1 UTSW 5 101812550 missense probably benign 0.34
R4804:Cds1 UTSW 5 101821523 missense probably damaging 1.00
R4990:Cds1 UTSW 5 101798379 missense probably damaging 1.00
R5176:Cds1 UTSW 5 101781420 missense possibly damaging 0.87
R5330:Cds1 UTSW 5 101798495 missense probably damaging 1.00
R5331:Cds1 UTSW 5 101798495 missense probably damaging 1.00
Posted On2015-12-18