Incidental Mutation 'IGL01897:Ctps'
ID179436
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctps
Ensembl Gene ENSMUSG00000028633
Gene Namecytidine 5'-triphosphate synthase
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.957) question?
Stock #IGL01897
Quality Score
Status
Chromosome4
Chromosomal Location120539868-120570276 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 120567279 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 46 (D46V)
Ref Sequence ENSEMBL: ENSMUSP00000030381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030381]
Predicted Effect probably damaging
Transcript: ENSMUST00000030381
AA Change: D46V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030381
Gene: ENSMUSG00000028633
AA Change: D46V

DomainStartEndE-ValueType
Pfam:CTP_synth_N 2 277 2.8e-135 PFAM
Pfam:GATase 309 546 6.7e-55 PFAM
Pfam:Peptidase_C26 378 528 3.8e-10 PFAM
low complexity region 565 578 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids. Activity of this proten is important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A G 1: 125,418,288 Y21H possibly damaging Het
Adamts15 A T 9: 30,902,152 S906T probably damaging Het
Brat1 A G 5: 140,717,915 D641G probably benign Het
Ccdc42 G A 11: 68,594,275 R205H probably benign Het
Cdadc1 T C 14: 59,592,537 probably null Het
Cfi T C 3: 129,858,385 V235A probably damaging Het
Cyb5d1 A T 11: 69,393,761 D188E probably benign Het
Cyp19a1 G T 9: 54,168,529 T414N probably benign Het
Cyp2c40 A T 19: 39,803,773 C242* probably null Het
Eif3b A T 5: 140,425,447 T218S possibly damaging Het
Fasn A T 11: 120,807,939 L2475Q probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Heyl A T 4: 123,246,607 I320F probably damaging Het
Itpr3 T A 17: 27,111,262 V1618E probably damaging Het
Kif7 A T 7: 79,701,052 I1007N probably damaging Het
Lat2 A G 5: 134,606,627 probably benign Het
Lipm A T 19: 34,121,308 D394V probably damaging Het
Lmbrd1 T A 1: 24,743,896 I307K possibly damaging Het
Mief1 T C 15: 80,248,508 probably benign Het
Mta2 C T 19: 8,947,766 Q333* probably null Het
Neb T A 2: 52,280,575 E1695V possibly damaging Het
Npc1l1 A T 11: 6,227,879 N510K probably benign Het
Olfr312 T C 11: 58,831,639 F162L probably damaging Het
P2rx3 A C 2: 85,023,481 probably benign Het
Pdgfc A G 3: 81,204,332 E198G possibly damaging Het
Pkdcc T A 17: 83,220,119 I242N probably damaging Het
Pkn3 C T 2: 30,082,812 probably benign Het
Rcan2 T G 17: 43,836,434 D54E probably damaging Het
Tmeff2 T A 1: 51,132,210 Y202N probably damaging Het
Unc13c A G 9: 73,546,027 L1827P probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wfdc15a G T 2: 164,199,976 Q21K probably benign Het
Zfp951 C A 5: 104,815,283 S139I probably benign Het
Other mutations in Ctps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Ctps APN 4 120552944 missense probably damaging 1.00
IGL00919:Ctps APN 4 120567348 missense probably benign 0.03
IGL01510:Ctps APN 4 120558844 missense probably damaging 0.98
IGL01686:Ctps APN 4 120553986 missense probably benign
IGL02261:Ctps APN 4 120542579 missense possibly damaging 0.53
IGL02797:Ctps APN 4 120562824 missense probably benign 0.03
R0125:Ctps UTSW 4 120561525 splice site probably benign
R1053:Ctps UTSW 4 120543722 splice site probably null
R2087:Ctps UTSW 4 120562815 missense probably benign 0.12
R3736:Ctps UTSW 4 120543746 missense probably benign
R3928:Ctps UTSW 4 120541896 missense probably benign
R3929:Ctps UTSW 4 120541896 missense probably benign
R4193:Ctps UTSW 4 120548138 missense probably damaging 1.00
R4389:Ctps UTSW 4 120558790 missense probably damaging 1.00
R4853:Ctps UTSW 4 120554010 missense probably damaging 1.00
R5045:Ctps UTSW 4 120552878 critical splice donor site probably null
R5074:Ctps UTSW 4 120553973 missense probably damaging 1.00
R5566:Ctps UTSW 4 120554103 splice site probably null
R6235:Ctps UTSW 4 120558806 missense probably benign 0.42
R6828:Ctps UTSW 4 120548138 missense probably damaging 1.00
R7232:Ctps UTSW 4 120548124 missense probably damaging 1.00
R7487:Ctps UTSW 4 120558800 missense probably damaging 1.00
X0027:Ctps UTSW 4 120554093 missense probably damaging 1.00
X0062:Ctps UTSW 4 120542617 missense probably benign
Z1176:Ctps UTSW 4 120542743 missense probably benign 0.00
Posted On2014-05-07