Incidental Mutation 'R5788:Ckm'
ID 448144
Institutional Source Beutler Lab
Gene Symbol Ckm
Ensembl Gene ENSMUSG00000030399
Gene Name creatine kinase, muscle
Synonyms Ckmm, M-CK, MCK
MMRRC Submission 043382-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R5788 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 19145019-19155508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19153372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 152 (D152G)
Ref Sequence ENSEMBL: ENSMUSP00000003643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003643] [ENSMUST00000208710]
AlphaFold P07310
Predicted Effect probably benign
Transcript: ENSMUST00000003643
AA Change: D152G

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000003643
Gene: ENSMUSG00000030399
AA Change: D152G

DomainStartEndE-ValueType
Pfam:ATP-gua_PtransN 24 99 5.2e-38 PFAM
Pfam:ATP-gua_Ptrans 120 367 2.6e-97 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000047020
SMART Domains Protein: ENSMUSP00000043987
Gene: ENSMUSG00000040705

DomainStartEndE-ValueType
low complexity region 7 31 N/A INTRINSIC
low complexity region 44 55 N/A INTRINSIC
low complexity region 86 95 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208685
Predicted Effect probably benign
Transcript: ENSMUST00000208710
AA Change: D221G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Meta Mutation Damage Score 0.3321 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 98% (62/63)
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 and is an important serum marker for myocardial infarction. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in striated muscle as well as in other tissues, and as a heterodimer with a similar brain isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in function and energy utilization of both skeletal and cardiac muscle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb A G 7: 131,045,328 (GRCm39) Y420C probably benign Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Amfr T A 8: 94,726,942 (GRCm39) R90S probably damaging Het
Ankrd60 TGGCCACGCGG TGG 2: 173,419,882 (GRCm39) probably null Het
Ano5 G A 7: 51,216,066 (GRCm39) D348N possibly damaging Het
Atp8a2 T A 14: 60,258,242 (GRCm39) D440V probably damaging Het
Bahcc1 A G 11: 120,177,178 (GRCm39) D2022G probably damaging Het
Bicd1 T C 6: 149,385,498 (GRCm39) F77S probably benign Het
Ccdc66 C T 14: 27,220,448 (GRCm39) R255H probably benign Het
Cpsf7 T G 19: 10,518,082 (GRCm39) S431A possibly damaging Het
Csmd1 T C 8: 16,251,980 (GRCm39) T959A probably damaging Het
Dkk4 T C 8: 23,115,347 (GRCm39) C66R probably damaging Het
Espl1 T A 15: 102,232,465 (GRCm39) W2058R probably damaging Het
Evi5l A T 8: 4,256,800 (GRCm39) probably benign Het
Fancg A T 4: 43,007,130 (GRCm39) probably benign Het
Flg2 A T 3: 93,108,296 (GRCm39) H108L probably benign Het
Fzd2 A T 11: 102,496,293 (GRCm39) T246S probably benign Het
Gm10428 T G 11: 62,644,107 (GRCm39) probably benign Het
Gm1988 T A 7: 38,821,627 (GRCm39) noncoding transcript Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm7133 A T 1: 97,171,201 (GRCm39) noncoding transcript Het
Grin2b T C 6: 135,717,962 (GRCm39) N710S probably benign Het
Hcn2 T C 10: 79,552,945 (GRCm39) V148A possibly damaging Het
Hephl1 A G 9: 14,995,579 (GRCm39) L483S possibly damaging Het
Hinfp C T 9: 44,209,105 (GRCm39) E338K possibly damaging Het
Hsd17b4 G A 18: 50,306,776 (GRCm39) D494N probably damaging Het
Ipo4 C T 14: 55,866,277 (GRCm39) V801M probably benign Het
Kcns2 A C 15: 34,839,000 (GRCm39) Y121S probably benign Het
Kif1c T A 11: 70,599,654 (GRCm39) L462H probably damaging Het
Lrrk2 T G 15: 91,648,851 (GRCm39) V1615G possibly damaging Het
Naca G A 10: 127,876,011 (GRCm39) probably benign Het
Naip6 G T 13: 100,436,724 (GRCm39) Q600K probably benign Het
Ndufs2 A G 1: 171,066,954 (GRCm39) Y135H probably damaging Het
Nwd2 T C 5: 63,965,114 (GRCm39) V1566A probably benign Het
Or52d13 C T 7: 103,110,086 (GRCm39) V110I possibly damaging Het
Or52n4b T C 7: 108,144,551 (GRCm39) I271T probably damaging Het
Or5t17 A G 2: 86,832,645 (GRCm39) T111A probably benign Het
Or6c75 A G 10: 129,336,779 (GRCm39) M1V probably null Het
Or6c75 A T 10: 129,336,763 (GRCm39) L3F probably benign Het
Pcid2 C T 8: 13,150,320 (GRCm39) probably null Het
Pld4 A C 12: 112,730,551 (GRCm39) I145L probably benign Het
Pogk A T 1: 166,236,580 (GRCm39) probably benign Het
Rhbg C T 3: 88,152,874 (GRCm39) V280I probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rxfp3 A G 15: 11,036,250 (GRCm39) F374S possibly damaging Het
Son A G 16: 91,456,940 (GRCm39) probably benign Het
Specc1l G T 10: 75,112,755 (GRCm39) R994L probably damaging Het
Tas2r135 T A 6: 42,382,531 (GRCm39) D23E probably damaging Het
Teddm2 A T 1: 153,726,810 (GRCm39) H21Q probably benign Het
Tet1 T C 10: 62,675,737 (GRCm39) T780A possibly damaging Het
Thbs1 T A 2: 117,952,989 (GRCm39) D866E probably damaging Het
Tmed4 A G 11: 6,221,743 (GRCm39) W198R probably damaging Het
Ttn A T 2: 76,749,575 (GRCm39) C3825S probably benign Het
Uchl1 T A 5: 66,833,754 (GRCm39) probably benign Het
Wsb2 A G 5: 117,515,483 (GRCm39) T363A possibly damaging Het
Zfp266 A G 9: 20,417,332 (GRCm39) Y19H probably damaging Het
Zkscan17 A G 11: 59,378,086 (GRCm39) C366R probably damaging Het
Other mutations in Ckm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Ckm APN 7 19,150,712 (GRCm39) nonsense probably null
IGL01486:Ckm APN 7 19,155,156 (GRCm39) missense probably damaging 1.00
IGL03303:Ckm APN 7 19,148,263 (GRCm39) splice site probably benign
R0382:Ckm UTSW 7 19,155,309 (GRCm39) makesense probably null
R0505:Ckm UTSW 7 19,153,377 (GRCm39) nonsense probably null
R2042:Ckm UTSW 7 19,148,082 (GRCm39) missense possibly damaging 0.49
R2157:Ckm UTSW 7 19,155,279 (GRCm39) missense probably benign 0.00
R4257:Ckm UTSW 7 19,155,279 (GRCm39) missense probably benign 0.00
R4515:Ckm UTSW 7 19,154,209 (GRCm39) missense probably damaging 1.00
R4663:Ckm UTSW 7 19,153,419 (GRCm39) missense probably damaging 1.00
R5327:Ckm UTSW 7 19,154,090 (GRCm39) missense probably damaging 1.00
R6995:Ckm UTSW 7 19,154,156 (GRCm39) missense probably benign 0.03
R7212:Ckm UTSW 7 19,148,978 (GRCm39) critical splice donor site probably null
R9313:Ckm UTSW 7 19,149,398 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACAGGAGGTATACAACGCCC -3'
(R):5'- AGGAAGGAGCTTGGCTTTAC -3'

Sequencing Primer
(F):5'- GACTTGGGCCCATCAAAGTC -3'
(R):5'- CTTTACATGGGGTTGCAATCAGGAC -3'
Posted On 2016-12-15