Incidental Mutation 'R6235:Ctps1'
ID 504856
Institutional Source Beutler Lab
Gene Symbol Ctps1
Ensembl Gene ENSMUSG00000028633
Gene Name cytidine 5'-triphosphate synthase 1
Synonyms Ctps
MMRRC Submission 044433-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R6235 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 120397065-120427473 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120416003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 207 (L207F)
Ref Sequence ENSEMBL: ENSMUSP00000030381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030381]
AlphaFold P70698
Predicted Effect probably benign
Transcript: ENSMUST00000030381
AA Change: L207F

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000030381
Gene: ENSMUSG00000028633
AA Change: L207F

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
Meta Mutation Damage Score 0.1193 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency 95% (73/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l T G 8: 44,078,949 (GRCm39) N425T probably benign Het
Adam6b T C 12: 113,455,330 (GRCm39) F716L probably benign Het
Akip1 A G 7: 109,306,620 (GRCm39) M106V probably benign Het
Aldh1l1 A T 6: 90,541,439 (GRCm39) I278F probably benign Het
Aplnr A G 2: 84,967,970 (GRCm39) T332A probably benign Het
Aqp4 A G 18: 15,531,170 (GRCm39) V197A probably damaging Het
Arid4a A T 12: 71,116,546 (GRCm39) probably null Het
Baiap2 A T 11: 119,872,234 (GRCm39) N99Y probably damaging Het
Ceacam1 A T 7: 25,171,217 (GRCm39) probably null Het
Cep78 T C 19: 15,953,850 (GRCm39) probably null Het
Cldn3 T C 5: 135,015,573 (GRCm39) F92S possibly damaging Het
Clec16a C A 16: 10,512,499 (GRCm39) P812Q probably damaging Het
Cnga4 T G 7: 105,056,906 (GRCm39) Y336* probably null Het
Copg2 A G 6: 30,793,006 (GRCm39) I443T probably damaging Het
Crhbp C A 13: 95,580,358 (GRCm39) A81S probably damaging Het
Csad A T 15: 102,087,041 (GRCm39) V410D probably damaging Het
Dab2ip A G 2: 35,613,099 (GRCm39) E1003G probably damaging Het
Ddx31 C G 2: 28,734,854 (GRCm39) A5G probably benign Het
Dnah12 A T 14: 26,576,761 (GRCm39) I3004F probably damaging Het
Fbxo15 A G 18: 84,999,029 (GRCm39) probably benign Het
Fbxw28 C A 9: 109,155,258 (GRCm39) W356C probably damaging Het
Gimap6 G T 6: 48,679,391 (GRCm39) T215K probably benign Het
Hspa4 C T 11: 53,153,766 (GRCm39) E702K probably benign Het
Hunk A G 16: 90,229,594 (GRCm39) I152V probably damaging Het
Itk T C 11: 46,227,255 (GRCm39) E456G probably benign Het
Krt40 G A 11: 99,433,920 (GRCm39) A22V possibly damaging Het
Lars2 T C 9: 123,240,945 (GRCm39) V204A probably damaging Het
Lipo3 A G 19: 33,760,963 (GRCm39) Y140H probably damaging Het
Lrp1 G A 10: 127,424,046 (GRCm39) R809W probably damaging Het
Magi3 C T 3: 103,923,384 (GRCm39) G1111D probably damaging Het
Mis18bp1 A T 12: 65,205,182 (GRCm39) V47E probably damaging Het
Mpdz T C 4: 81,303,518 (GRCm39) E140G probably damaging Het
Myo1d T C 11: 80,583,770 (GRCm39) I81V probably benign Het
Nek10 T A 14: 14,821,113 (GRCm38) Y26* probably null Het
Ntng2 C A 2: 29,117,991 (GRCm39) E152D probably damaging Het
Or10w1 C A 19: 13,632,145 (GRCm39) C117* probably null Het
Or5m9b T C 2: 85,905,510 (GRCm39) L142P possibly damaging Het
Otud3 A T 4: 138,629,212 (GRCm39) V185D probably damaging Het
Parp6 C T 9: 59,538,098 (GRCm39) R248W probably benign Het
Pcdhga7 A G 18: 37,849,483 (GRCm39) T497A probably benign Het
Ppp1r18 A G 17: 36,184,769 (GRCm39) E140G probably damaging Het
Prl3b1 T C 13: 27,431,928 (GRCm39) L151P probably damaging Het
Pth1r C T 9: 110,551,384 (GRCm39) E572K possibly damaging Het
Ptprq T A 10: 107,471,199 (GRCm39) T1401S possibly damaging Het
Rad51ap2 A G 12: 11,507,517 (GRCm39) T480A possibly damaging Het
Rax T A 18: 66,068,232 (GRCm39) Q291L unknown Het
Reck T C 4: 43,937,450 (GRCm39) L734P probably damaging Het
Rgmb A G 17: 16,041,081 (GRCm39) F169L probably damaging Het
Rhobtb3 T C 13: 76,041,029 (GRCm39) I426M probably damaging Het
Ring1 C A 17: 34,242,280 (GRCm39) A76S probably damaging Het
Robo3 T G 9: 37,332,225 (GRCm39) Y891S probably damaging Het
Rpusd2 A G 2: 118,865,338 (GRCm39) I12V probably benign Het
Rragd T C 4: 32,995,985 (GRCm39) V165A possibly damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Homo
Ryr1 G T 7: 28,815,606 (GRCm39) Q95K probably benign Het
S1pr4 T A 10: 81,334,716 (GRCm39) N253Y possibly damaging Het
Scn3a A C 2: 65,291,679 (GRCm39) V1689G probably damaging Het
Sdhb A G 4: 140,700,984 (GRCm39) N147D probably damaging Het
Sdk1 A T 5: 142,020,181 (GRCm39) H913L possibly damaging Het
Serpina3i T A 12: 104,232,791 (GRCm39) M232K probably damaging Het
Sipa1l2 A T 8: 126,201,610 (GRCm39) V646E probably damaging Het
Slc38a1 A T 15: 96,476,673 (GRCm39) I396N probably benign Het
Slc6a13 A T 6: 121,279,753 (GRCm39) E42D probably benign Het
Stard9 G A 2: 120,544,027 (GRCm39) V4442M probably damaging Het
Sumo3 T A 10: 77,452,071 (GRCm39) probably benign Het
Syngap1 A G 17: 27,177,104 (GRCm39) I356V probably benign Het
Tcam1 C T 11: 106,174,880 (GRCm39) Q112* probably null Het
Tdp2 T A 13: 25,024,378 (GRCm39) L225* probably null Het
Tmprss7 A G 16: 45,478,485 (GRCm39) V747A probably benign Het
Ugt2b34 T A 5: 87,054,223 (GRCm39) Y186F probably benign Het
Usp37 G T 1: 74,514,292 (GRCm39) S293* probably null Het
Vmn1r36 A G 6: 66,693,230 (GRCm39) I109T probably benign Het
Vsig10l T A 7: 43,118,396 (GRCm39) V798E probably benign Het
Zfp36l1 G T 12: 80,159,596 (GRCm39) C18* probably null Het
Zfp959 T C 17: 56,204,427 (GRCm39) Y152H probably damaging Het
Zfyve26 A T 12: 79,296,373 (GRCm39) C1949S probably damaging Het
Zswim9 T A 7: 12,995,529 (GRCm39) E209V probably damaging 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
IGL02797:Ctps1 APN 4 120,420,021 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- GAAGAGCTAACTGACAGGTTTTCC -3'
(R):5'- TCTAGGCTGAAGTGTACAACTG -3'

Sequencing Primer
(F):5'- CCTCCTTAATGTTCTTGGGAGG -3'
(R):5'- GGCTGAAGTGTACAACTGAATTATTC -3'
Posted On 2018-02-28