Incidental Mutation 'IGL02797:Ctps1'
ID 359986
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctps1
Ensembl Gene ENSMUSG00000028633
Gene Name cytidine 5'-triphosphate synthase 1
Synonyms Ctps
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # IGL02797
Quality Score
Status
Chromosome 4
Chromosomal Location 120397065-120427473 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120420021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 131 (I131K)
Ref Sequence ENSEMBL: ENSMUSP00000030381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030381]
AlphaFold P70698
Predicted Effect probably benign
Transcript: ENSMUST00000030381
AA Change: I131K

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000030381
Gene: ENSMUSG00000028633
AA Change: I131K

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,187,214 (GRCm39) M924T probably benign Het
Afg2a A G 3: 37,512,465 (GRCm39) probably benign Het
B3gat2 A G 1: 23,854,360 (GRCm39) Y218C probably damaging Het
Bcs1l T C 1: 74,629,620 (GRCm39) probably null Het
Cd109 T A 9: 78,568,995 (GRCm39) I358N probably damaging Het
Cd276 T C 9: 58,444,719 (GRCm39) D84G possibly damaging Het
Chsy1 T C 7: 65,821,412 (GRCm39) F549S probably damaging Het
Clca3a2 T C 3: 144,787,024 (GRCm39) N549S probably benign Het
Cma1 A G 14: 56,181,271 (GRCm39) S32P possibly damaging Het
Col23a1 G A 11: 51,452,743 (GRCm39) probably null Het
Cyp2w1 T C 5: 139,342,628 (GRCm39) L441P probably damaging Het
Dnajc21 A G 15: 10,461,441 (GRCm39) Y170H probably damaging Het
Eif3a A T 19: 60,761,164 (GRCm39) L648Q probably damaging Het
Eif3l T A 15: 78,959,477 (GRCm39) D6E probably benign Het
Fam228a A T 12: 4,781,484 (GRCm39) L125Q probably damaging Het
Foxa2 A G 2: 147,886,045 (GRCm39) C263R possibly damaging Het
Gm17455 A G 10: 60,239,107 (GRCm39) E124G possibly damaging Het
Gpc6 T G 14: 117,163,394 (GRCm39) L16R probably damaging Het
Hdac9 A G 12: 34,443,273 (GRCm39) probably benign Het
Herc3 A G 6: 58,845,679 (GRCm39) N400S probably benign Het
Herc4 G A 10: 63,152,586 (GRCm39) probably null Het
Il12b A G 11: 44,301,180 (GRCm39) probably null Het
Lama4 A G 10: 38,932,920 (GRCm39) R599G probably null Het
Lrp1b T A 2: 41,561,069 (GRCm39) E286V Het
Mink1 C T 11: 70,501,176 (GRCm39) P784S probably damaging Het
Musk T C 4: 58,366,921 (GRCm39) F513S probably benign Het
Nfasc T A 1: 132,538,186 (GRCm39) D474V probably damaging Het
Nhsl3 C T 4: 129,117,104 (GRCm39) R565H probably damaging Het
Nos2 T G 11: 78,831,170 (GRCm39) F420V probably damaging Het
Or52ab2 A T 7: 102,970,058 (GRCm39) I147L probably benign Het
Pcdhb14 A G 18: 37,582,904 (GRCm39) Y670C probably damaging Het
Polr1b A G 2: 128,944,899 (GRCm39) E65G probably damaging Het
Ppp1r10 T G 17: 36,238,904 (GRCm39) probably null Het
Prag1 C T 8: 36,606,655 (GRCm39) R799C probably damaging Het
Prb1c T A 6: 132,340,008 (GRCm39) probably null Het
Ptch1 T C 13: 63,681,421 (GRCm39) N485S probably benign Het
Rgsl1 T C 1: 153,683,454 (GRCm39) T19A probably damaging Het
Sgpl1 A C 10: 60,937,507 (GRCm39) S507A probably benign Het
Sgpp2 A G 1: 78,393,819 (GRCm39) D274G probably benign Het
Skap1 A G 11: 96,603,843 (GRCm39) D211G possibly damaging Het
Smc3 A G 19: 53,627,189 (GRCm39) T830A probably benign Het
Smpd2 G A 10: 41,364,074 (GRCm39) T215I possibly damaging Het
Sntg2 T G 12: 30,276,891 (GRCm39) Y387S possibly damaging Het
Sorl1 T G 9: 41,948,355 (GRCm39) D810A probably damaging Het
Spop T A 11: 95,372,909 (GRCm39) I217N probably damaging Het
Stac2 T C 11: 97,934,345 (GRCm39) R120G possibly damaging Het
Stau1 A T 2: 166,791,266 (GRCm39) *496R probably null Het
Tmeff2 C T 1: 50,967,206 (GRCm39) R34C probably damaging Het
Treml2 C T 17: 48,609,739 (GRCm39) A57V possibly damaging Het
Vmn2r15 T C 5: 109,445,250 (GRCm39) D58G probably benign Het
Vmn2r7 T C 3: 64,598,666 (GRCm39) I721M possibly damaging Het
Vmn2r70 C A 7: 85,208,295 (GRCm39) M727I probably benign Het
Vwa8 T A 14: 79,162,702 (GRCm39) C161S probably benign Het
Other mutations in Ctps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Ctps1 APN 4 120,410,141 (GRCm39) missense probably damaging 1.00
IGL00919:Ctps1 APN 4 120,424,545 (GRCm39) missense probably benign 0.03
IGL01510:Ctps1 APN 4 120,416,041 (GRCm39) missense probably damaging 0.98
IGL01686:Ctps1 APN 4 120,411,183 (GRCm39) missense probably benign
IGL01897:Ctps1 APN 4 120,424,476 (GRCm39) missense probably damaging 1.00
IGL02261:Ctps1 APN 4 120,399,776 (GRCm39) missense possibly damaging 0.53
R0125:Ctps1 UTSW 4 120,418,722 (GRCm39) splice site probably benign
R1053:Ctps1 UTSW 4 120,400,919 (GRCm39) splice site probably null
R2087:Ctps1 UTSW 4 120,420,012 (GRCm39) missense probably benign 0.12
R3736:Ctps1 UTSW 4 120,400,943 (GRCm39) missense probably benign
R3928:Ctps1 UTSW 4 120,399,093 (GRCm39) missense probably benign
R3929:Ctps1 UTSW 4 120,399,093 (GRCm39) missense probably benign
R4193:Ctps1 UTSW 4 120,405,335 (GRCm39) missense probably damaging 1.00
R4389:Ctps1 UTSW 4 120,415,987 (GRCm39) missense probably damaging 1.00
R4853:Ctps1 UTSW 4 120,411,207 (GRCm39) missense probably damaging 1.00
R5045:Ctps1 UTSW 4 120,410,075 (GRCm39) critical splice donor site probably null
R5074:Ctps1 UTSW 4 120,411,170 (GRCm39) missense probably damaging 1.00
R5566:Ctps1 UTSW 4 120,411,300 (GRCm39) splice site probably null
R6235:Ctps1 UTSW 4 120,416,003 (GRCm39) missense probably benign 0.42
R6828:Ctps1 UTSW 4 120,405,335 (GRCm39) missense probably damaging 1.00
R7232:Ctps1 UTSW 4 120,405,321 (GRCm39) missense probably damaging 1.00
R7487:Ctps1 UTSW 4 120,415,997 (GRCm39) missense probably damaging 1.00
R8697:Ctps1 UTSW 4 120,399,947 (GRCm39) missense probably benign
R8821:Ctps1 UTSW 4 120,424,507 (GRCm39) missense possibly damaging 0.72
R8831:Ctps1 UTSW 4 120,424,507 (GRCm39) missense possibly damaging 0.72
R8975:Ctps1 UTSW 4 120,406,743 (GRCm39) missense probably benign 0.10
R9024:Ctps1 UTSW 4 120,406,707 (GRCm39) nonsense probably null
R9677:Ctps1 UTSW 4 120,410,092 (GRCm39) missense probably benign 0.06
X0027:Ctps1 UTSW 4 120,411,290 (GRCm39) missense probably damaging 1.00
X0062:Ctps1 UTSW 4 120,399,814 (GRCm39) missense probably benign
Z1176:Ctps1 UTSW 4 120,399,940 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18