Incidental Mutation 'R3929:Ctps1'
ID 308628
Institutional Source Beutler Lab
Gene Symbol Ctps1
Ensembl Gene ENSMUSG00000028633
Gene Name cytidine 5'-triphosphate synthase 1
Synonyms Ctps
MMRRC Submission 040824-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R3929 (G1)
Quality Score 218
Status Not validated
Chromosome 4
Chromosomal Location 120397065-120427473 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120399093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 553 (H553L)
Ref Sequence ENSEMBL: ENSMUSP00000030381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030381]
AlphaFold P70698
Predicted Effect probably benign
Transcript: ENSMUST00000030381
AA Change: H553L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030381
Gene: ENSMUSG00000028633
AA Change: H553L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147980
Meta Mutation Damage Score 0.0836 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.5%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ak5 A C 3: 152,373,444 (GRCm39) L18R probably damaging Het
Atrx T C X: 104,923,523 (GRCm39) I157V possibly damaging Het
C9 T A 15: 6,496,939 (GRCm39) I212N probably benign Het
Cabin1 T C 10: 75,587,452 (GRCm39) probably null Het
Ccnf A G 17: 24,453,356 (GRCm39) V361A probably damaging Het
Dmrta1 C T 4: 89,579,681 (GRCm39) Q214* probably null Het
E230025N22Rik T C 18: 36,824,625 (GRCm39) D112G probably damaging Het
Frat1 T C 19: 41,819,087 (GRCm39) C161R probably damaging Het
H1f8 A G 6: 115,925,757 (GRCm39) K185E probably benign Het
Itpr2 C A 6: 146,275,857 (GRCm39) probably null Het
Klhl40 A G 9: 121,609,742 (GRCm39) D509G probably benign Het
Muc5ac T C 7: 141,356,629 (GRCm39) V1072A probably benign Het
Nav3 A G 10: 109,520,064 (GRCm39) Y2340H probably damaging Het
Or10ak9 T C 4: 118,726,179 (GRCm39) L66P probably damaging Het
Or2y17 A T 11: 49,231,820 (GRCm39) M154L probably benign Het
Or51a43 C T 7: 103,717,791 (GRCm39) C149Y probably benign Het
Or5be3 T A 2: 86,864,428 (GRCm39) I46F possibly damaging Het
Or6c2 G A 10: 129,362,100 (GRCm39) M1I probably null Het
Prdm10 T C 9: 31,258,432 (GRCm39) I619T probably damaging Het
Rp1 T C 1: 4,422,868 (GRCm39) T71A probably damaging Het
Rpusd4 A G 9: 35,183,876 (GRCm39) I202V probably benign Het
Sin3a A G 9: 57,025,421 (GRCm39) N1089S probably damaging Het
St6gal2 A G 17: 55,803,324 (GRCm39) D353G possibly damaging Het
Stap2 A C 17: 56,310,156 (GRCm39) F50V probably damaging Het
Stkld1 T A 2: 26,830,059 (GRCm39) probably null Het
Tars3 A G 7: 65,333,791 (GRCm39) probably null Het
Tbl1xr1 G C 3: 22,243,932 (GRCm39) D69H probably damaging Het
Tnrc6c C T 11: 117,614,355 (GRCm39) R838W probably damaging Het
Trim61 A G 8: 65,465,969 (GRCm39) F431L probably benign Het
Trmo C T 4: 46,382,647 (GRCm39) G150S probably damaging Het
Vmn1r61 A G 7: 5,614,176 (GRCm39) I46T probably benign Het
Vmn2r19 T C 6: 123,292,587 (GRCm39) Y210H probably benign Het
Xrn1 T C 9: 95,870,926 (GRCm39) S584P possibly 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
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
Predicted Primers PCR Primer
(F):5'- AAGCCTGGCCAGCAAGATAG -3'
(R):5'- GTGTAGCAGTGTCAGCTGACTC -3'

Sequencing Primer
(F):5'- GATAGGGGCAGCCTAACAAC -3'
(R):5'- TAGCAGTGTCAGCTGACTCCTTTTC -3'
Posted On 2015-04-17