Incidental Mutation 'IGL02449:Cds1'
ID 294070
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 # IGL02449
Quality Score
Status
Chromosome 5
Chromosomal Location 101913001-101971724 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 101963794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 371 (G371D)
Ref Sequence ENSEMBL: ENSMUSP00000031273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031273]
AlphaFold P98191
Predicted Effect probably damaging
Transcript: ENSMUST00000031273
AA Change: G371D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031273
Gene: ENSMUSG00000029330
AA Change: G371D

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,440,908 (GRCm39) probably null Het
Akap6 A G 12: 53,186,971 (GRCm39) T1462A probably damaging Het
Arl6ip6 T C 2: 53,082,538 (GRCm39) probably benign Het
Ascc3 A T 10: 50,576,695 (GRCm39) Q883H probably benign Het
Atp11a T A 8: 12,807,358 (GRCm39) probably null Het
Col12a1 A G 9: 79,548,751 (GRCm39) L2198P probably damaging Het
Cyp2d22 C T 15: 82,257,442 (GRCm39) G241D probably benign Het
Dapk1 T C 13: 60,867,584 (GRCm39) probably benign Het
Dera T A 6: 137,757,815 (GRCm39) probably null Het
Efcab6 A G 15: 83,894,234 (GRCm39) V186A probably benign Het
Gm9637 T A 14: 19,402,436 (GRCm38) noncoding transcript Het
Gpr180 T C 14: 118,397,532 (GRCm39) L342P probably damaging Het
Heg1 T C 16: 33,559,095 (GRCm39) probably null Het
Kcnab2 C A 4: 152,496,441 (GRCm39) probably null Het
Lax1 A G 1: 133,607,874 (GRCm39) V289A probably damaging Het
Ly6k T G 15: 74,668,934 (GRCm39) D115A probably benign Het
Mcc A C 18: 44,593,025 (GRCm39) I670S probably benign Het
Mpdz C A 4: 81,247,659 (GRCm39) probably null Het
Mrgprb8 T A 7: 48,038,431 (GRCm39) L34* probably null Het
Mtor T A 4: 148,618,378 (GRCm39) H1730Q possibly damaging Het
Muc4 C T 16: 32,576,503 (GRCm39) probably benign Het
Myh8 T C 11: 67,185,440 (GRCm39) probably null Het
Naip5 A T 13: 100,358,683 (GRCm39) V851E probably benign Het
Neb T C 2: 52,091,918 (GRCm39) I1277V probably benign Het
Nlrp9a T C 7: 26,264,396 (GRCm39) M683T probably benign Het
Npr2 A G 4: 43,646,641 (GRCm39) Y663C probably damaging Het
Padi3 C T 4: 140,517,023 (GRCm39) probably null Het
Pclo A G 5: 14,565,357 (GRCm39) D41G probably damaging Het
Pds5a A T 5: 65,776,353 (GRCm39) N80K probably damaging Het
Plec C T 15: 76,070,963 (GRCm39) D812N possibly damaging Het
Psg20 A T 7: 18,418,333 (GRCm39) probably benign Het
Ptch2 C A 4: 116,965,380 (GRCm39) L322I possibly damaging Het
Ptprv T C 1: 135,039,074 (GRCm39) noncoding transcript Het
Scn2b A G 9: 45,036,812 (GRCm39) K107E probably damaging Het
Slc24a4 A C 12: 102,193,341 (GRCm39) I226L probably benign Het
Spink4 A G 4: 40,929,190 (GRCm39) M72V probably benign Het
Supt16 A T 14: 52,411,263 (GRCm39) M676K possibly damaging Het
Svep1 A C 4: 58,070,296 (GRCm39) C2497G possibly damaging Het
Tenm2 T A 11: 35,914,449 (GRCm39) T2362S probably damaging Het
Tgm3 G T 2: 129,880,529 (GRCm39) probably null Het
Trpa1 T A 1: 14,968,381 (GRCm39) T462S probably damaging Het
Ucp2 G A 7: 100,148,017 (GRCm39) V237M probably damaging Het
Vmn2r53 C A 7: 12,316,288 (GRCm39) L510F probably damaging Het
Zan G A 5: 137,387,589 (GRCm39) T4874M unknown Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp974 T A 7: 27,611,152 (GRCm39) Y191F probably benign 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
IGL02833:Cds1 APN 5 101,962,332 (GRCm39) missense possibly damaging 0.81
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 2015-04-16