Incidental Mutation 'IGL01739:Cmpk1'
ID105818
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmpk1
Ensembl Gene ENSMUSG00000028719
Gene Namecytidine monophosphate (UMP-CMP) kinase 1
Synonyms0610011D08Rik, Cmpk
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01739
Quality Score
Status
Chromosome4
Chromosomal Location114959336-114987241 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 114964924 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 143 (A143T)
Ref Sequence ENSEMBL: ENSMUSP00000030491 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030491] [ENSMUST00000133066]
Predicted Effect probably benign
Transcript: ENSMUST00000030491
AA Change: A143T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000030491
Gene: ENSMUSG00000028719
AA Change: A143T

DomainStartEndE-ValueType
Pfam:Zeta_toxin 20 220 8.3e-8 PFAM
Pfam:AAA_18 37 183 9.9e-12 PFAM
Pfam:ADK 39 202 9.7e-47 PFAM
Pfam:Thymidylate_kin 40 219 1.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129317
Predicted Effect probably benign
Transcript: ENSMUST00000133066
SMART Domains Protein: ENSMUSP00000118198
Gene: ENSMUSG00000028719

DomainStartEndE-ValueType
low complexity region 18 31 N/A INTRINSIC
Pfam:ADK 39 61 9.2e-8 PFAM
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 one of the enzymes required for cellular nucleic acid biosynthesis. This enzyme catalyzes the transfer of a phosphate group from ATP to CMP, UMP, or dCMP, to form the corresponding diphosphate nucleotide. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 G T 7: 44,256,786 Y88* probably null Het
Aftph T C 11: 20,726,994 D205G probably damaging Het
Arhgap31 T C 16: 38,603,431 I758V probably benign Het
Atg9b A G 5: 24,386,515 probably null Het
Auts2 T C 5: 131,440,218 T754A probably benign Het
Birc6 A G 17: 74,659,221 M4048V probably benign Het
Cacna1s T C 1: 136,097,132 probably null Het
Cstf2t C A 19: 31,083,136 P24Q probably damaging Het
Cwc22 A G 2: 77,927,296 S163P probably damaging Het
Faf1 T A 4: 109,677,081 probably benign Het
Focad T A 4: 88,370,806 I1279N unknown Het
Gp5 T C 16: 30,308,641 D405G possibly damaging Het
Guf1 C A 5: 69,561,158 N213K probably damaging Het
Hacd4 T C 4: 88,423,048 T145A probably damaging Het
Itga11 T C 9: 62,774,117 M1005T probably benign Het
Lrrc6 T A 15: 66,449,477 M272L probably benign Het
Mast4 T A 13: 102,774,273 T621S probably damaging Het
Mme T C 3: 63,340,113 M273T possibly damaging Het
Mos A G 4: 3,871,816 probably benign Het
Msln C T 17: 25,750,030 probably null Het
Mtg1 A T 7: 140,150,236 Q315L probably benign Het
Myh1 A G 11: 67,214,528 E1048G probably damaging Het
Ndufa9 C T 6: 126,844,814 G66D probably damaging Het
Nr1i2 T C 16: 38,265,971 K44R probably benign Het
Nup155 T A 15: 8,135,788 M636K probably benign Het
Olfr101 A T 17: 37,299,782 F213L probably benign Het
Olfr1446 T A 19: 12,890,149 T143S probably benign Het
Pde4b A T 4: 102,601,635 Q496L probably damaging Het
Plekha6 T C 1: 133,260,131 V130A probably benign Het
Prag1 A G 8: 36,102,680 N139S probably benign Het
Rbpj-ps3 T C 6: 46,530,760 T19A probably benign Het
Scai A G 2: 39,094,791 probably benign Het
Slc12a7 A G 13: 73,799,614 T617A probably benign Het
Slc15a2 T C 16: 36,756,230 M481V probably benign Het
Snx5 A G 2: 144,270,405 L8P probably benign Het
Spg11 C T 2: 122,114,671 A123T probably damaging Het
Supt6 T A 11: 78,222,187 I977F probably damaging Het
Tjp3 T C 10: 81,278,656 D442G probably benign Het
Ttc21b A T 2: 66,237,856 N275K probably benign Het
Vmn2r50 A G 7: 10,037,437 F779S probably damaging Het
Xirp2 A T 2: 67,515,138 R2574S probably benign Het
Zbp1 T C 2: 173,212,245 E161G possibly damaging Het
Other mutations in Cmpk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0212:Cmpk1 UTSW 4 114965019 missense possibly damaging 0.49
R0441:Cmpk1 UTSW 4 114965023 missense probably benign 0.00
R1316:Cmpk1 UTSW 4 114971290 intron probably benign
R4428:Cmpk1 UTSW 4 114963362 missense probably benign 0.00
R5851:Cmpk1 UTSW 4 114986970 missense possibly damaging 0.46
Posted On2014-01-21