Incidental Mutation 'IGL02833:Cds1'
ID 361511
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cds1
Ensembl Gene ENSMUSG00000029330
Gene Name CDP-diacylglycerol synthase 1
Synonyms 4833409J18Rik, phosphatidate cytidylyltransferase
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # IGL02833
Quality Score
Status
Chromosome 5
Chromosomal Location 101913001-101971724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101962332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 316 (S316P)
Ref Sequence ENSEMBL: ENSMUSP00000031273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031273]
AlphaFold P98191
Predicted Effect possibly damaging
Transcript: ENSMUST00000031273
AA Change: S316P

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031273
Gene: ENSMUSG00000029330
AA Change: S316P

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache A G 5: 137,289,371 (GRCm39) probably benign Het
Atr A T 9: 95,744,905 (GRCm39) H74L probably damaging Het
Brca2 A T 5: 150,465,255 (GRCm39) H1673L possibly damaging Het
Brwd1 A T 16: 95,853,771 (GRCm39) I495K probably damaging Het
Cacna1s A T 1: 135,998,743 (GRCm39) I213F probably benign Het
Ces1b G A 8: 93,806,038 (GRCm39) P68S probably damaging Het
Cilp A G 9: 65,185,206 (GRCm39) I434V probably benign Het
Csgalnact2 A G 6: 118,106,229 (GRCm39) Y30H probably damaging Het
Defb7 T C 8: 19,545,140 (GRCm39) V6A probably benign Het
Dlg2 A T 7: 92,080,335 (GRCm39) L841F probably damaging Het
Dnajc14 A G 10: 128,642,468 (GRCm39) N130S possibly damaging Het
Dock7 T A 4: 98,833,732 (GRCm39) D1863V probably damaging Het
Dsp A G 13: 38,376,897 (GRCm39) R1561G possibly damaging Het
Fads2b G T 2: 85,332,551 (GRCm39) R158S possibly damaging Het
Gstt4 G T 10: 75,658,174 (GRCm39) F28L probably damaging Het
Hectd1 G T 12: 51,810,864 (GRCm39) D1690E probably damaging Het
Hspg2 T C 4: 137,282,441 (GRCm39) S3394P probably benign Het
Ift25 T C 4: 107,132,492 (GRCm39) probably benign Het
Igf2r A T 17: 12,911,610 (GRCm39) C1910S probably damaging Het
Jakmip2 T C 18: 43,708,516 (GRCm39) probably benign Het
Katnip A T 7: 125,449,584 (GRCm39) R883* probably null Het
Kif1b C T 4: 149,330,821 (GRCm39) V612M probably damaging Het
Lrrd1 A G 5: 3,900,709 (GRCm39) E338G probably damaging Het
Mmp9 C A 2: 164,791,723 (GRCm39) D205E probably damaging Het
Mylk A T 16: 34,735,270 (GRCm39) H750L probably benign Het
Naip6 A G 13: 100,436,121 (GRCm39) S801P probably damaging Het
Nlrp1b A T 11: 71,051,998 (GRCm39) M980K probably benign Het
Or14j1 G A 17: 38,146,831 (GRCm39) V314I probably benign Het
Or2y3 T C 17: 38,393,243 (GRCm39) K209E possibly damaging Het
Or5d43 C A 2: 88,104,776 (GRCm39) V206F probably benign Het
Or6c88 A G 10: 129,406,619 (GRCm39) T32A probably benign Het
Pdk1 A G 2: 71,727,989 (GRCm39) probably null Het
Pex7 A G 10: 19,770,500 (GRCm39) S125P probably damaging Het
Pigu T C 2: 155,187,565 (GRCm39) probably benign Het
Prr16 T A 18: 51,436,164 (GRCm39) H214Q probably damaging Het
Psme4 C T 11: 30,800,715 (GRCm39) probably benign Het
Sf3b3 A G 8: 111,538,609 (GRCm39) probably null Het
Sp4 T C 12: 118,225,616 (GRCm39) I583V probably benign Het
Spata22 A G 11: 73,234,569 (GRCm39) T224A probably benign Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tmem119 T A 5: 113,933,432 (GRCm39) Y123F probably damaging Het
Umps A T 16: 33,782,523 (GRCm39) L133* probably null Het
Usp46 T A 5: 74,177,343 (GRCm39) T179S probably benign Het
Vtcn1 T A 3: 100,795,701 (GRCm39) Y223N probably damaging Het
Wiz A G 17: 32,576,853 (GRCm39) M567T probably damaging Het
Other mutations in Cds1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Cds1 APN 5 101,957,767 (GRCm39) missense probably damaging 0.99
IGL02052:Cds1 APN 5 101,962,338 (GRCm39) missense probably benign 0.01
IGL02238:Cds1 APN 5 101,962,302 (GRCm39) missense possibly damaging 0.84
IGL02449:Cds1 APN 5 101,963,794 (GRCm39) missense probably damaging 1.00
IGL02973:Cds1 APN 5 101,960,376 (GRCm39) missense probably damaging 0.99
IGL02987:Cds1 APN 5 101,960,391 (GRCm39) missense possibly damaging 0.85
R0076:Cds1 UTSW 5 101,965,706 (GRCm39) splice site probably benign
R0200:Cds1 UTSW 5 101,962,299 (GRCm39) missense probably damaging 0.97
R0285:Cds1 UTSW 5 101,944,904 (GRCm39) missense probably damaging 1.00
R0608:Cds1 UTSW 5 101,962,299 (GRCm39) missense probably damaging 0.97
R0932:Cds1 UTSW 5 101,944,891 (GRCm39) missense probably damaging 0.99
R1444:Cds1 UTSW 5 101,946,245 (GRCm39) missense probably damaging 1.00
R1585:Cds1 UTSW 5 101,965,828 (GRCm39) splice site probably benign
R1781:Cds1 UTSW 5 101,960,416 (GRCm39) missense possibly damaging 0.78
R2126:Cds1 UTSW 5 101,960,416 (GRCm39) missense probably benign 0.34
R4804:Cds1 UTSW 5 101,969,389 (GRCm39) missense probably damaging 1.00
R4990:Cds1 UTSW 5 101,946,245 (GRCm39) missense probably damaging 1.00
R5176:Cds1 UTSW 5 101,929,286 (GRCm39) missense possibly damaging 0.87
R5330:Cds1 UTSW 5 101,946,361 (GRCm39) missense probably damaging 1.00
R5331:Cds1 UTSW 5 101,946,361 (GRCm39) missense probably damaging 1.00
R9257:Cds1 UTSW 5 101,963,751 (GRCm39) missense probably benign 0.01
Posted On 2015-12-18