Incidental Mutation 'IGL00926:Cds1'
ID27432
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 #IGL00926
Quality Score
Status
Chromosome5
Chromosomal Location101765130-101823858 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101809901 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 246 (I246M)
Ref Sequence ENSEMBL: ENSMUSP00000031273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031273]
Predicted Effect probably damaging
Transcript: ENSMUST00000031273
AA Change: I246M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031273
Gene: ENSMUSG00000029330
AA Change: I246M

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr2 A T X: 21,486,285 M53L probably benign Het
Apob T C 12: 8,015,421 V4097A probably benign Het
Brip1 T C 11: 86,148,401 K436E possibly damaging Het
Cadps C A 14: 12,491,795 R785L probably damaging Het
Cavin2 A G 1: 51,300,877 K238E probably damaging Het
Ccdc158 G A 5: 92,650,767 T358I probably damaging Het
Cep19 A G 16: 32,107,080 E102G probably damaging Het
Clec4a1 T A 6: 122,922,055 C28S possibly damaging Het
Csmd3 T A 15: 47,710,964 Y2082F possibly damaging Het
Fbn1 T A 2: 125,319,042 T2193S possibly damaging Het
Gm24124 G T 19: 13,634,057 probably benign Het
Gpbp1l1 T A 4: 116,587,513 probably null Het
Helq T C 5: 100,765,082 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Itga3 G A 11: 95,065,886 H122Y probably damaging Het
Mettl18 T A 1: 163,996,226 S39T possibly damaging Het
Ndst4 A T 3: 125,561,453 T337S probably benign Het
Neb A G 2: 52,270,317 probably benign Het
Nrbp1 T C 5: 31,243,797 S6P probably benign Het
Olfr444 A T 6: 42,956,436 probably benign Het
Olfr618 A G 7: 103,598,162 N282S possibly damaging Het
Olfr633 A G 7: 103,946,997 T144A probably benign Het
Oprk1 A G 1: 5,598,905 I191M probably damaging Het
Psap T C 10: 60,292,536 V69A probably damaging Het
Scn7a C T 2: 66,684,131 E1100K probably benign Het
Tmem145 A G 7: 25,314,730 N423S possibly damaging Het
Tpd52 A T 3: 8,947,632 probably null Het
Trmt13 G A 3: 116,590,235 Q58* probably null Het
Ttn T C 2: 76,758,781 E21346G probably damaging Het
Other mutations in Cds1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02973:Cds1 APN 5 101812510 missense probably damaging 0.99
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 On2013-04-17