Incidental Mutation 'IGL01739:Cmpk1'
ID 105818
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cmpk1
Ensembl Gene ENSMUSG00000028719
Gene Name cytidine/uridine monophosphate kinase 1
Synonyms 0610011D08Rik, Cmpk
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01739
Quality Score
Status
Chromosome 4
Chromosomal Location 114817810-114844425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 114822121 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 43,906,210 (GRCm39) Y88* probably null Het
Aftph T C 11: 20,676,994 (GRCm39) D205G probably damaging Het
Arhgap31 T C 16: 38,423,793 (GRCm39) I758V probably benign Het
Atg9b A G 5: 24,591,513 (GRCm39) probably null Het
Auts2 T C 5: 131,469,056 (GRCm39) T754A probably benign Het
Birc6 A G 17: 74,966,216 (GRCm39) M4048V probably benign Het
Cacna1s T C 1: 136,024,870 (GRCm39) probably null Het
Cstf2t C A 19: 31,060,536 (GRCm39) P24Q probably damaging Het
Cwc22 A G 2: 77,757,640 (GRCm39) S163P probably damaging Het
Dnaaf11 T A 15: 66,321,326 (GRCm39) M272L probably benign Het
Faf1 T A 4: 109,534,278 (GRCm39) probably benign Het
Focad T A 4: 88,289,043 (GRCm39) I1279N unknown Het
Gp5 T C 16: 30,127,459 (GRCm39) D405G possibly damaging Het
Guf1 C A 5: 69,718,501 (GRCm39) N213K probably damaging Het
Hacd4 T C 4: 88,341,285 (GRCm39) T145A probably damaging Het
Itga11 T C 9: 62,681,399 (GRCm39) M1005T probably benign Het
Mast4 T A 13: 102,910,781 (GRCm39) T621S probably damaging Het
Mme T C 3: 63,247,534 (GRCm39) M273T possibly damaging Het
Mos A G 4: 3,871,816 (GRCm39) probably benign Het
Msln C T 17: 25,969,004 (GRCm39) probably null Het
Mtg1 A T 7: 139,730,149 (GRCm39) Q315L probably benign Het
Myh1 A G 11: 67,105,354 (GRCm39) E1048G probably damaging Het
Ndufa9 C T 6: 126,821,777 (GRCm39) G66D probably damaging Het
Nr1i2 T C 16: 38,086,333 (GRCm39) K44R probably benign Het
Nup155 T A 15: 8,165,272 (GRCm39) M636K probably benign Het
Or12d12 A T 17: 37,610,673 (GRCm39) F213L probably benign Het
Or5b96 T A 19: 12,867,513 (GRCm39) T143S probably benign Het
Pde4b A T 4: 102,458,832 (GRCm39) Q496L probably damaging Het
Plekha6 T C 1: 133,187,869 (GRCm39) V130A probably benign Het
Prag1 A G 8: 36,569,834 (GRCm39) N139S probably benign Het
Rbpj-ps3 T C 6: 46,507,694 (GRCm39) T19A probably benign Het
Scai A G 2: 38,984,803 (GRCm39) probably benign Het
Slc12a7 A G 13: 73,947,733 (GRCm39) T617A probably benign Het
Slc15a2 T C 16: 36,576,592 (GRCm39) M481V probably benign Het
Snx5 A G 2: 144,112,325 (GRCm39) L8P probably benign Het
Spg11 C T 2: 121,945,152 (GRCm39) A123T probably damaging Het
Supt6 T A 11: 78,113,013 (GRCm39) I977F probably damaging Het
Tjp3 T C 10: 81,114,490 (GRCm39) D442G probably benign Het
Ttc21b A T 2: 66,068,200 (GRCm39) N275K probably benign Het
Vmn2r50 A G 7: 9,771,364 (GRCm39) F779S probably damaging Het
Xirp2 A T 2: 67,345,482 (GRCm39) R2574S probably benign Het
Zbp1 T C 2: 173,054,038 (GRCm39) E161G possibly damaging Het
Other mutations in Cmpk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0212:Cmpk1 UTSW 4 114,822,216 (GRCm39) missense possibly damaging 0.49
R0441:Cmpk1 UTSW 4 114,822,220 (GRCm39) missense probably benign 0.00
R1316:Cmpk1 UTSW 4 114,828,487 (GRCm39) intron probably benign
R4428:Cmpk1 UTSW 4 114,820,559 (GRCm39) missense probably benign 0.00
R5851:Cmpk1 UTSW 4 114,844,167 (GRCm39) missense possibly damaging 0.46
Posted On 2014-01-21