Incidental Mutation 'IGL02866:Ckmt2'
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ID362330
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ckmt2
Ensembl Gene ENSMUSG00000021622
Gene Namecreatine kinase, mitochondrial 2
SynonymsScCKmit, 2300008A19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.204) question?
Stock #IGL02866
Quality Score
Status
Chromosome13
Chromosomal Location91853387-91876885 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 91858281 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 315 (L315*)
Ref Sequence ENSEMBL: ENSMUSP00000022122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022122]
Predicted Effect probably null
Transcript: ENSMUST00000022122
AA Change: L315*
SMART Domains Protein: ENSMUSP00000022122
Gene: ENSMUSG00000021622
AA Change: L315*

DomainStartEndE-ValueType
Pfam:ATP-gua_PtransN 58 133 3.4e-35 PFAM
Pfam:ATP-gua_Ptrans 154 401 1.3e-95 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122270
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189130
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: The hearts of mice homozygous for disruptions of this gene have hypertrophic and dilated left ventricles exhibit functional abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A T 18: 59,048,842 M1118L possibly damaging Het
Dusp28 T A 1: 92,907,656 I154N probably benign Het
Ect2l A T 10: 18,159,817 I420N probably damaging Het
Erap1 C A 13: 74,667,999 N82K probably damaging Het
Gsdma3 A G 11: 98,629,759 D72G possibly damaging Het
Hectd1 T A 12: 51,790,613 S720C probably damaging Het
Jakmip2 T G 18: 43,552,201 E674A probably benign Het
Kcnt2 T C 1: 140,425,248 S232P probably damaging Het
Kmo T C 1: 175,653,588 S291P probably damaging Het
Kpnb1 A G 11: 97,177,286 V286A probably damaging Het
Ldah T A 12: 8,238,602 V83D probably benign Het
Mrgprb5 T A 7: 48,168,166 I274F probably damaging Het
Mum1l1 T C X: 139,235,004 V97A probably benign Het
Mycbp2 A G 14: 103,129,992 I988T probably damaging Het
Myh3 A G 11: 67,089,023 E596G probably benign Het
Ndufs1 T C 1: 63,147,141 I52V probably benign Het
Nhsl1 G T 10: 18,527,607 D1363Y probably damaging Het
Olfr1450 A G 19: 12,954,355 I255M possibly damaging Het
Olfr295 T A 7: 86,585,693 C139* probably null Het
Olfr585 C A 7: 103,098,383 T214K probably damaging Het
Olfr798 A C 10: 129,625,706 Y118* probably null Het
Pcdhb19 T C 18: 37,499,110 S653P possibly damaging Het
Plcb3 A G 19: 6,957,676 L869P probably damaging Het
Prkdc T A 16: 15,831,327 F3722I probably damaging Het
Ptprd T C 4: 76,050,437 K206R probably damaging Het
Robo3 C A 9: 37,422,306 R703L possibly damaging Het
Tob1 A T 11: 94,214,057 M140L possibly damaging Het
Ubc A T 5: 125,387,422 D280E probably benign Het
Wasf3 C A 5: 146,468,321 Q364K probably benign Het
Other mutations in Ckmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Ckmt2 APN 13 91863263 missense probably damaging 1.00
IGL01359:Ckmt2 APN 13 91861820 missense probably damaging 1.00
IGL02138:Ckmt2 APN 13 91861828 missense probably benign 0.44
IGL02372:Ckmt2 APN 13 91865224 missense probably benign 0.02
IGL02415:Ckmt2 APN 13 91863340 splice site probably benign
IGL02714:Ckmt2 APN 13 91858308 missense possibly damaging 0.64
R0329:Ckmt2 UTSW 13 91863203 missense possibly damaging 0.93
R0330:Ckmt2 UTSW 13 91863203 missense possibly damaging 0.93
R0593:Ckmt2 UTSW 13 91853638 missense probably damaging 0.99
R1438:Ckmt2 UTSW 13 91859852 splice site probably benign
R1529:Ckmt2 UTSW 13 91861201 missense probably benign
R1616:Ckmt2 UTSW 13 91859209 missense probably benign 0.16
R2114:Ckmt2 UTSW 13 91855845 missense probably benign 0.05
R2117:Ckmt2 UTSW 13 91855845 missense probably benign 0.05
R4300:Ckmt2 UTSW 13 91863338 critical splice acceptor site probably null
R5038:Ckmt2 UTSW 13 91861163 missense probably benign 0.01
R5322:Ckmt2 UTSW 13 91861772 missense possibly damaging 0.59
R7539:Ckmt2 UTSW 13 91859944 missense probably damaging 1.00
R8039:Ckmt2 UTSW 13 91863312 missense possibly damaging 0.94
R8189:Ckmt2 UTSW 13 91855775 missense probably damaging 0.99
R8258:Ckmt2 UTSW 13 91859216 missense probably damaging 1.00
R8259:Ckmt2 UTSW 13 91859216 missense probably damaging 1.00
Posted On2015-12-18