Incidental Mutation 'IGL01686:Ctps'
ID103963
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: 0.948) question?
Stock #IGL01686
Quality Score
Status
Chromosome4
Chromosomal Location120539868-120570276 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120553986 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 278 (S278P)
Ref Sequence ENSEMBL: ENSMUSP00000030381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030381]
Predicted Effect probably benign
Transcript: ENSMUST00000030381
AA Change: S278P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030381
Gene: ENSMUSG00000028633
AA Change: S278P

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
Abcc9 A G 6: 142,603,075 V1316A possibly damaging Het
Ada T G 2: 163,730,316 K254N probably benign Het
Adamts17 A G 7: 66,840,289 R40G probably benign Het
Akr1d1 C T 6: 37,530,243 probably benign Het
Aldh1l1 T A 6: 90,559,233 probably benign Het
Bbox1 T A 2: 110,265,486 I378F probably benign Het
BC028528 T C 3: 95,888,900 N50S probably damaging Het
Casp8ap2 T A 4: 32,641,294 S783T possibly damaging Het
Cmpk2 C T 12: 26,477,178 R389W probably damaging Het
Cplx1 C T 5: 108,548,527 probably null Het
Crim1 T C 17: 78,344,434 L529P probably benign Het
Defb21 C A 2: 152,574,901 probably benign Het
Ecm1 T A 3: 95,736,064 N308I probably benign Het
Flg2 T C 3: 93,202,284 S540P unknown Het
Gabrp G T 11: 33,552,826 S346* probably null Het
Gli2 C A 1: 118,848,435 C419F probably damaging Het
Grid2 T A 6: 64,320,196 F514L probably benign Het
Hormad1 T G 3: 95,578,269 M256R probably benign Het
Itsn2 T G 12: 4,636,693 probably benign Het
Klhl38 A T 15: 58,323,311 D7E probably benign Het
Map3k1 G A 13: 111,754,662 T1248I possibly damaging Het
Mki67 A T 7: 135,707,813 V303E probably benign Het
Mterf4 A T 1: 93,304,721 L136* probably null Het
Mtmr14 A G 6: 113,240,430 D61G possibly damaging Het
Nf2 A T 11: 4,818,613 D85E probably benign Het
Nmnat2 G T 1: 153,076,997 probably benign Het
Olfm3 T A 3: 115,122,848 D476E probably benign Het
Olfr297 T C 7: 86,526,778 V7A probably benign Het
Olfr920 T A 9: 38,756,254 C189S probably damaging Het
Pdia6 T C 12: 17,283,957 probably benign Het
Prrg1 G A X: 78,483,782 A47V probably damaging Het
Rgs22 A T 15: 36,103,835 I160K probably benign Het
Sardh T C 2: 27,189,613 Y889C probably damaging Het
Syne2 C A 12: 75,909,336 D605E 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
IGL01897:Ctps APN 4 120567279 missense probably damaging 1.00
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 On2014-01-21