Incidental Mutation 'IGL02115:Ckb'
ID 280355
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ckb
Ensembl Gene ENSMUSG00000001270
Gene Name creatine kinase, brain
Synonyms B-CK, Ck-3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02115
Quality Score
Status
Chromosome 12
Chromosomal Location 111635795-111638772 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111636415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 271 (F271L)
Ref Sequence ENSEMBL: ENSMUSP00000001304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001304]
AlphaFold Q04447
Predicted Effect possibly damaging
Transcript: ENSMUST00000001304
AA Change: F271L

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000001304
Gene: ENSMUSG00000001270
AA Change: F271L

DomainStartEndE-ValueType
Pfam:ATP-gua_PtransN 24 99 1.9e-36 PFAM
Pfam:ATP-gua_Ptrans 120 367 1.9e-100 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220888
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223099
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice have abnormal hippocampal morphology with enlarged mossy fiber field size and display resistance to pharmacologically induced seizures, reduced habituation and spatial learning impairments. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik A T 7: 124,930,781 (GRCm39) noncoding transcript Het
Abca7 A T 10: 79,833,913 (GRCm39) N76Y probably damaging Het
Apob A G 12: 8,042,923 (GRCm39) K755R probably benign Het
BC034090 A T 1: 155,108,397 (GRCm39) probably benign Het
Brinp1 T C 4: 68,680,635 (GRCm39) T632A probably benign Het
Cdcp1 C A 9: 123,014,462 (GRCm39) C104F probably damaging Het
Cfap206 C T 4: 34,722,623 (GRCm39) V153I possibly damaging Het
Chd1l A T 3: 97,497,220 (GRCm39) probably null Het
Col6a3 T A 1: 90,735,373 (GRCm39) I759L probably damaging Het
Ddr2 A T 1: 169,822,278 (GRCm39) M390K probably benign Het
Dhx8 C T 11: 101,643,214 (GRCm39) P762L probably damaging Het
Dnah3 A T 7: 119,628,277 (GRCm39) V1449E probably damaging Het
Dzip3 T C 16: 48,768,848 (GRCm39) I629M probably benign Het
Ep300 T C 15: 81,533,019 (GRCm39) I1692T unknown Het
Ercc6 T A 14: 32,298,950 (GRCm39) L1446Q probably damaging Het
Gm10092 T C 16: 35,957,993 (GRCm39) noncoding transcript Het
Gm6900 A T 7: 10,390,503 (GRCm39) noncoding transcript Het
Gpr149 T C 3: 62,502,336 (GRCm39) T507A probably benign Het
Hmcn1 T A 1: 150,506,479 (GRCm39) D3776V probably damaging Het
Irgm2 A G 11: 58,110,948 (GRCm39) E225G probably benign Het
Kif14 T C 1: 136,424,305 (GRCm39) probably benign Het
Klhl22 T C 16: 17,594,459 (GRCm39) V196A probably damaging Het
Lig4 T C 8: 10,023,247 (GRCm39) S178G possibly damaging Het
Lzts2 A G 19: 45,014,809 (GRCm39) probably benign Het
Mcoln3 C T 3: 145,843,056 (GRCm39) S380L probably damaging Het
Med12l A T 3: 58,975,740 (GRCm39) T223S probably benign Het
Mrpl54 A G 10: 81,101,483 (GRCm39) probably null Het
Myo1c A T 11: 75,552,417 (GRCm39) I397F probably damaging Het
Nbas A T 12: 13,367,693 (GRCm39) probably benign Het
Ncoa2 G A 1: 13,223,041 (GRCm39) H1195Y probably damaging Het
Nol3 A G 8: 106,006,263 (GRCm39) M171V probably benign Het
Or2l5 A T 16: 19,333,853 (GRCm39) C178S probably damaging Het
Or52s1 A G 7: 102,861,681 (GRCm39) T194A probably damaging Het
Pdpr C T 8: 111,830,630 (GRCm39) L107F probably damaging Het
Ppfibp2 G A 7: 107,338,525 (GRCm39) probably benign Het
Rusc2 T C 4: 43,426,136 (GRCm39) probably benign Het
Sdk2 G T 11: 113,725,639 (GRCm39) probably benign Het
Sema7a T C 9: 57,868,183 (GRCm39) C539R probably damaging Het
Senp6 T C 9: 80,029,208 (GRCm39) C524R probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Slc15a1 A T 14: 121,718,073 (GRCm39) Y269N possibly damaging Het
Synj2 T A 17: 6,067,865 (GRCm39) Y113N probably damaging Het
Tm6sf1 A T 7: 81,525,551 (GRCm39) Y172F probably damaging Het
Trpv4 T C 5: 114,763,090 (GRCm39) D773G probably damaging Het
Ttc39a A G 4: 109,283,491 (GRCm39) probably benign Het
Tut1 C T 19: 8,942,676 (GRCm39) R588W probably damaging Het
Unc79 A T 12: 102,964,933 (GRCm39) Y74F probably damaging Het
Usp53 A T 3: 122,741,039 (GRCm39) I737K probably benign Het
Vmn2r67 A T 7: 84,800,787 (GRCm39) M383K probably damaging Het
Zc3h4 A G 7: 16,159,708 (GRCm39) D426G unknown Het
Zfp622 A G 15: 25,987,286 (GRCm39) N308S probably damaging Het
Other mutations in Ckb
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0179:Ckb UTSW 12 111,636,610 (GRCm39) missense probably benign 0.00
R0686:Ckb UTSW 12 111,636,627 (GRCm39) missense probably benign 0.42
R1065:Ckb UTSW 12 111,637,681 (GRCm39) missense probably benign 0.07
R1311:Ckb UTSW 12 111,636,079 (GRCm39) small deletion probably benign
R1481:Ckb UTSW 12 111,637,696 (GRCm39) missense probably benign 0.05
R1888:Ckb UTSW 12 111,636,079 (GRCm39) small deletion probably benign
R1888:Ckb UTSW 12 111,636,079 (GRCm39) small deletion probably benign
R1891:Ckb UTSW 12 111,636,079 (GRCm39) small deletion probably benign
R2345:Ckb UTSW 12 111,638,238 (GRCm39) missense probably damaging 1.00
R4936:Ckb UTSW 12 111,637,664 (GRCm39) missense probably benign 0.14
R5934:Ckb UTSW 12 111,636,663 (GRCm39) missense probably damaging 1.00
R6149:Ckb UTSW 12 111,638,248 (GRCm39) missense probably damaging 0.96
R7976:Ckb UTSW 12 111,637,466 (GRCm39) missense possibly damaging 0.47
R9204:Ckb UTSW 12 111,637,869 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16