Incidental Mutation 'R4428:Cmpk1'
ID 328266
Institutional Source Beutler Lab
Gene Symbol Cmpk1
Ensembl Gene ENSMUSG00000028719
Gene Name cytidine/uridine monophosphate kinase 1
Synonyms 0610011D08Rik, Cmpk
MMRRC Submission 041698-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4428 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 114817810-114844425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114820559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 180 (E180G)
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: E180G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000030491
Gene: ENSMUSG00000028719
AA Change: E180G

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: 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
Meta Mutation Damage Score 0.0765 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (46/46)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Abcc1 T A 16: 14,263,164 (GRCm39) V708E probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Ccdc18 A G 5: 108,283,943 (GRCm39) Y82C probably benign Het
Cd82 T C 2: 93,250,214 (GRCm39) Y266C probably damaging Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Dock8 T C 19: 25,177,863 (GRCm39) I2066T probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fgf3 T C 7: 144,394,444 (GRCm39) V86A probably damaging Het
Frem2 A G 3: 53,561,759 (GRCm39) I916T probably benign Het
Gsk3b T A 16: 38,014,298 (GRCm39) L252Q probably damaging Het
Kif18a A G 2: 109,118,466 (GRCm39) T94A probably damaging Het
Klhdc1 T A 12: 69,315,000 (GRCm39) probably benign Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Mapk7 T C 11: 61,380,055 (GRCm39) D701G possibly damaging Het
Mbd5 A T 2: 49,169,776 (GRCm39) Q47L possibly damaging Het
Nrcam A G 12: 44,623,558 (GRCm39) D1049G possibly damaging Het
Olfml2a G T 2: 38,831,755 (GRCm39) M111I probably damaging Het
Or3a1c T C 11: 74,046,025 (GRCm39) F15S probably damaging Het
Pld2 A T 11: 70,432,160 (GRCm39) H93L probably damaging Het
Pomgnt2 T C 9: 121,811,320 (GRCm39) E487G possibly damaging Het
Psg17 G T 7: 18,550,717 (GRCm39) N379K probably benign Het
Rfk T A 19: 17,375,959 (GRCm39) H84Q possibly damaging Het
Scn8a A G 15: 100,881,784 (GRCm39) Y617C probably damaging Het
Sema3d T C 5: 12,498,087 (GRCm39) F31S probably benign Het
Shq1 T C 6: 100,647,889 (GRCm39) Y45C probably damaging Het
Siglecg C T 7: 43,067,350 (GRCm39) P639L possibly damaging Het
Skp2 A T 15: 9,117,034 (GRCm39) N325K probably benign Het
Sost G A 11: 101,857,670 (GRCm39) P44S probably damaging Het
Sp8 T A 12: 118,812,938 (GRCm39) S264R possibly damaging Het
Sun1 T C 5: 139,220,230 (GRCm39) probably benign Het
Tardbp A G 4: 148,709,659 (GRCm39) V54A possibly damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmem68 A T 4: 3,569,534 (GRCm39) I52K probably benign Het
Trhde A T 10: 114,339,028 (GRCm39) L594Q probably damaging Het
Umps A C 16: 33,781,956 (GRCm39) V322G probably damaging Het
Vmn2r109 T C 17: 20,773,286 (GRCm39) D445G probably benign Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vmn2r4 C T 3: 64,322,590 (GRCm39) G43E probably damaging 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
R1316:Cmpk1 UTSW 4 114,828,487 (GRCm39) intron probably benign
R5851:Cmpk1 UTSW 4 114,844,167 (GRCm39) missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- GCTGTAGGTTAATTGTCCTCCC -3'
(R):5'- TCCGAGATGAAGCCATACCC -3'

Sequencing Primer
(F):5'- CTCTTCCACATTACAGAAAGGGTG -3'
(R):5'- AGACACATTGAGTTTAATGCAGG -3'
Posted On 2015-07-07