Incidental Mutation 'R1316:Cmpk1'
ID 157540
Institutional Source Beutler Lab
Gene Symbol Cmpk1
Ensembl Gene ENSMUSG00000028719
Gene Name cytidine/uridine monophosphate kinase 1
Synonyms 0610011D08Rik, Cmpk
MMRRC Submission 039382-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1316 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 114817810-114844425 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 114828487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030491] [ENSMUST00000133066]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030491
SMART Domains Protein: ENSMUSP00000030491
Gene: ENSMUSG00000028719

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
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.5%
  • 20x: 90.1%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C1qtnf12 G A 4: 156,050,331 (GRCm39) E223K probably damaging Het
Col11a1 G A 3: 113,932,619 (GRCm39) probably null Het
Ears2 T C 7: 121,645,905 (GRCm39) T337A probably benign Het
Erbin T C 13: 103,977,742 (GRCm39) K605R possibly damaging Het
Irs3 T C 5: 137,642,703 (GRCm39) E245G probably damaging Het
Limch1 T C 5: 67,156,586 (GRCm39) I223T probably damaging Het
Lrp1b T C 2: 40,592,816 (GRCm39) T3768A probably benign Het
Notch4 G A 17: 34,786,444 (GRCm39) D195N probably damaging Het
Or5b109 T C 19: 13,211,803 (GRCm39) F63S probably damaging Het
Or7g25 T A 9: 19,160,035 (GRCm39) Q220L probably benign Het
Or8b12b T C 9: 37,684,039 (GRCm39) F28S possibly damaging Het
Or8u8 T C 2: 86,011,709 (GRCm39) S249G probably benign Het
Podxl2 A G 6: 88,826,199 (GRCm39) L369P probably benign Het
Rnf149 A G 1: 39,604,401 (GRCm39) *45Q probably null Het
Scart2 T C 7: 139,879,583 (GRCm39) V957A probably benign Het
Slc4a11 T A 2: 130,528,071 (GRCm39) E528V probably benign Het
Slc9a1 A G 4: 133,149,558 (GRCm39) R795G possibly damaging Het
Slco6d1 A T 1: 98,394,518 (GRCm39) M401L probably benign Het
Tiparp T G 3: 65,460,772 (GRCm39) F587C probably damaging Het
Vmn2r120 T C 17: 57,832,939 (GRCm39) Q80R probably benign Het
Other mutations in Cmpk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01739:Cmpk1 APN 4 114,822,121 (GRCm39) missense probably benign 0.04
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
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
Predicted Primers PCR Primer
(F):5'- TCTGGCCCAGTGCTTAGCATGTAG -3'
(R):5'- GACAGCAGAACGCTTTGAAAGTCC -3'

Sequencing Primer
(F):5'- CAGTGCTTAGCATGTAGTAATATTGG -3'
(R):5'- gcagacataacactcacatacac -3'
Posted On 2014-02-18