Incidental Mutation 'IGL01368:Ckm'
ID76015
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ckm
Ensembl Gene ENSMUSG00000030399
Gene Namecreatine kinase, muscle
SynonymsM-CK, MCK, Ckmm
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.280) question?
Stock #IGL01368
Quality Score
Status
Chromosome7
Chromosomal Location19404776-19422841 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 19416787 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 184 (Q184*)
Ref Sequence ENSEMBL: ENSMUSP00000146972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003643] [ENSMUST00000208710]
Predicted Effect probably null
Transcript: ENSMUST00000003643
AA Change: Q115*
SMART Domains Protein: ENSMUSP00000003643
Gene: ENSMUSG00000030399
AA Change: Q115*

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 null
Transcript: ENSMUST00000208710
AA Change: Q184*
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 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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T A 14: 103,051,334 D93E probably damaging Het
Adam22 T C 5: 8,127,411 Y566C probably damaging Het
Atp8b3 G A 10: 80,534,229 probably benign Het
Babam1 T A 8: 71,398,406 D104E probably damaging Het
Bcl2a1a T A 9: 88,957,447 W133R probably damaging Het
Clk4 T A 11: 51,281,172 Y246* probably null Het
Cyp3a57 T C 5: 145,369,068 S121P probably damaging Het
Gm5039 C T 12: 88,321,088 D132N unknown Het
Gm5771 A G 6: 41,396,686 D161G possibly damaging Het
Gm8011 T C 14: 42,465,874 probably benign Het
Gpr153 T C 4: 152,282,994 F434S probably benign Het
Gpr158 G T 2: 21,827,098 W1003L probably damaging Het
Ighv5-9-1 T C 12: 113,736,390 E34G probably damaging Het
Igkv16-104 G T 6: 68,425,610 R2S possibly damaging Het
Map3k3 T C 11: 106,150,389 F395L probably benign Het
Myof T A 19: 37,936,457 T1161S probably damaging Het
Nlrp9a T C 7: 26,557,874 S217P probably damaging Het
Nol9 T A 4: 152,058,391 N687K probably benign Het
Olfr287 T C 15: 98,207,500 I295V probably damaging Het
Olfr697 T C 7: 106,741,622 E104G probably benign Het
Olfr748 T C 14: 50,710,993 V221A possibly damaging Het
Olfr952 A T 9: 39,426,180 V297D probably damaging Het
Rrh T C 3: 129,808,969 D229G probably benign Het
Sclt1 T C 3: 41,711,175 T153A probably damaging Het
Slc41a1 G A 1: 131,839,124 V127I probably damaging Het
Smarca2 C T 19: 26,774,294 S214L possibly damaging Het
Tmem63a T C 1: 180,970,232 V616A possibly damaging Het
Ubr1 A G 2: 120,941,131 probably benign Het
Vmn1r228 A G 17: 20,776,512 L248P probably benign Het
Zdhhc16 T A 19: 41,941,506 probably null Het
Other mutations in Ckm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01486:Ckm APN 7 19421231 missense probably damaging 1.00
IGL03303:Ckm APN 7 19414338 splice site probably benign
R0382:Ckm UTSW 7 19421384 makesense probably null
R0505:Ckm UTSW 7 19419452 nonsense probably null
R2042:Ckm UTSW 7 19414157 missense possibly damaging 0.49
R2157:Ckm UTSW 7 19421354 missense probably benign 0.00
R4257:Ckm UTSW 7 19421354 missense probably benign 0.00
R4515:Ckm UTSW 7 19420284 missense probably damaging 1.00
R4663:Ckm UTSW 7 19419494 missense probably damaging 1.00
R5327:Ckm UTSW 7 19420165 missense probably damaging 1.00
R5788:Ckm UTSW 7 19419447 missense probably benign 0.08
R6995:Ckm UTSW 7 19420231 missense probably benign 0.03
R7212:Ckm UTSW 7 19415053 critical splice donor site probably null
Posted On2013-10-07