Incidental Mutation 'R1065:Ckb'
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Institutional Source Beutler Lab
Gene Symbol Ckb
Ensembl Gene ENSMUSG00000001270
Gene Namecreatine kinase, brain
SynonymsB-CK, Ck-3
MMRRC Submission 039151-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1065 (G1)
Quality Score225
Status Validated
Chromosomal Location111669361-111672338 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 111671247 bp
Amino Acid Change Glutamic Acid to Glycine at position 150 (E150G)
Ref Sequence ENSEMBL: ENSMUSP00000001304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001304]
Predicted Effect probably benign
Transcript: ENSMUST00000001304
AA Change: E150G

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000001304
Gene: ENSMUSG00000001270
AA Change: E150G

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
Meta Mutation Damage Score 0.6157 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 97% (36/37)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4922502D21Rik A G 6: 129,323,050 I155T possibly damaging Het
Cd300ld2 T C 11: 115,013,760 T94A probably damaging Het
Cdc42bpg G A 19: 6,322,826 S1515N probably damaging Het
Cobl T A 11: 12,254,327 M785L possibly damaging Het
Col6a5 T C 9: 105,881,783 N2075D probably damaging Het
Commd7 G C 2: 153,619,527 probably benign Het
Corin G A 5: 72,301,650 R927* probably null Het
Ift122 A T 6: 115,875,325 probably null Het
Il1b G A 2: 129,368,007 T83I probably benign Het
Ints4 T C 7: 97,507,892 probably null Het
Msh6 T G 17: 87,988,463 probably benign Het
Mtmr3 T C 11: 4,492,859 K392E probably damaging Het
Olfr1094 A G 2: 86,829,544 H264R probably damaging Het
Pde3a T C 6: 141,476,732 probably benign Het
Pde6h A C 6: 136,959,370 K37T probably damaging Het
Plat C A 8: 22,776,863 D290E probably damaging Het
Polk A C 13: 96,508,252 L122R probably damaging Het
Ppp1r3g T A 13: 35,969,435 D279E probably benign Het
Ptpru T C 4: 131,808,340 E370G possibly damaging Het
Ralgapa2 T C 2: 146,450,558 Y187C probably benign Het
Rps6ka2 C T 17: 7,281,758 probably benign Het
Slit3 T C 11: 35,121,635 S41P possibly damaging Het
Smarca5 A T 8: 80,704,714 L958Q probably damaging Het
Snx9 T C 17: 5,902,361 probably benign Het
Stkld1 A T 2: 26,940,038 N72I probably damaging Het
Strc C A 2: 121,366,651 D1532Y probably damaging Het
Sucla2 C T 14: 73,560,634 probably benign Het
Svil T G 18: 5,063,777 probably benign Het
Traf3ip1 T A 1: 91,500,784 D122E unknown Het
Vmn2r7 A T 3: 64,707,138 D509E possibly damaging Het
Vps52 C A 17: 33,961,239 Q306K probably benign Het
Wdr60 C T 12: 116,256,076 R82H probably damaging Het
Zfp407 C T 18: 84,559,773 A1072T probably benign Het
Zfp418 C A 7: 7,181,562 Q175K probably benign Het
Zxdc T C 6: 90,378,903 S465P probably damaging Het
Other mutations in Ckb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02115:Ckb APN 12 111669981 missense possibly damaging 0.94
R0179:Ckb UTSW 12 111670176 missense probably benign 0.00
R0686:Ckb UTSW 12 111670193 missense probably benign 0.42
R1311:Ckb UTSW 12 111669645 small deletion probably benign
R1481:Ckb UTSW 12 111671262 missense probably benign 0.05
R1888:Ckb UTSW 12 111669645 small deletion probably benign
R1888:Ckb UTSW 12 111669645 small deletion probably benign
R1891:Ckb UTSW 12 111669645 small deletion probably benign
R2345:Ckb UTSW 12 111671804 missense probably damaging 1.00
R4936:Ckb UTSW 12 111671230 missense probably benign 0.14
R5934:Ckb UTSW 12 111670229 missense probably damaging 1.00
R6149:Ckb UTSW 12 111671814 missense probably damaging 0.96
R7976:Ckb UTSW 12 111671032 missense possibly damaging 0.47
Predicted Primers PCR Primer

Sequencing Primer
Posted On2013-11-18