Incidental Mutation 'IGL02415:Ckmt2'
ID 292430
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ckmt2
Ensembl Gene ENSMUSG00000021622
Gene Name creatine kinase, mitochondrial 2
Synonyms ScCKmit, 2300008A19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # IGL02415
Quality Score
Status
Chromosome 13
Chromosomal Location 92001510-92025001 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 92011459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022122]
AlphaFold Q6P8J7
Predicted Effect probably benign
Transcript: ENSMUST00000022122
SMART Domains Protein: ENSMUSP00000022122
Gene: ENSMUSG00000021622

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,777,056 (GRCm39) D124G probably benign Het
Adamts13 T A 2: 26,879,295 (GRCm39) I616N possibly damaging Het
Adamts3 T C 5: 89,854,506 (GRCm39) probably null Het
Amy1 T C 3: 113,357,234 (GRCm39) I202V probably benign Het
Bdp1 G A 13: 100,225,916 (GRCm39) T322I probably damaging Het
Cep295 A G 9: 15,264,316 (GRCm39) L110S probably damaging Het
Cep72 T C 13: 74,198,273 (GRCm39) D369G probably benign Het
Chd3 A T 11: 69,239,739 (GRCm39) probably benign Het
Cyp2s1 T C 7: 25,507,562 (GRCm39) T296A probably damaging Het
E2f5 T A 3: 14,668,957 (GRCm39) V283E probably benign Het
Eeig2 A G 3: 108,887,608 (GRCm39) Y219H probably damaging Het
F5 A G 1: 164,019,498 (GRCm39) T658A probably damaging Het
Gml A T 15: 74,688,289 (GRCm39) Y59* probably null Het
Kmo A T 1: 175,476,889 (GRCm39) probably benign Het
Krt25 A T 11: 99,213,398 (GRCm39) I107N probably damaging Het
Llgl2 A G 11: 115,744,111 (GRCm39) M773V probably damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Med12 T C X: 100,325,396 (GRCm39) V761A probably damaging Het
Mrpl19 T C 6: 81,940,942 (GRCm39) T150A probably benign Het
Muc2 G T 7: 141,305,609 (GRCm39) E646* probably null Het
Muc20 T A 16: 32,615,051 (GRCm39) T109S unknown Het
Nr2f6 T C 8: 71,827,156 (GRCm39) T382A probably benign Het
Nrap A G 19: 56,370,741 (GRCm39) I172T probably damaging Het
Or5an1 A G 19: 12,260,862 (GRCm39) Y150C probably benign Het
Or8b47 T C 9: 38,435,408 (GRCm39) C127R probably benign Het
P3h1 A T 4: 119,105,152 (GRCm39) Q710L probably benign Het
Parvb A G 15: 84,177,016 (GRCm39) H185R probably damaging Het
Pkhd1 A G 1: 20,484,645 (GRCm39) I1970T probably damaging Het
Pkhd1 T C 1: 20,592,983 (GRCm39) Y1710C probably damaging Het
Plxna2 C A 1: 194,326,272 (GRCm39) R69S probably damaging Het
Rad51ap2 A G 12: 11,506,930 (GRCm39) N284S possibly damaging Het
Reln T A 5: 22,176,949 (GRCm39) S1906C possibly damaging Het
Rln1 T C 19: 29,311,798 (GRCm39) R67G probably damaging Het
Shcbp1 C T 8: 4,804,239 (GRCm39) V224I possibly damaging Het
Slc13a4 A G 6: 35,260,172 (GRCm39) probably null Het
Stx6 A G 1: 155,069,059 (GRCm39) E195G possibly damaging Het
Sult2b1 G T 7: 45,391,509 (GRCm39) D90E possibly damaging Het
Taok1 A G 11: 77,431,066 (GRCm39) probably benign Het
Tbx15 A T 3: 99,259,826 (GRCm39) M566L probably benign Het
Tcaf1 C T 6: 42,663,584 (GRCm39) A99T probably benign Het
Tcf20 T A 15: 82,737,660 (GRCm39) M1264L probably benign Het
Tenm4 G A 7: 96,523,281 (GRCm39) V1571M probably damaging Het
Ttc39a A G 4: 109,288,726 (GRCm39) probably benign Het
Ubr1 C A 2: 120,801,084 (GRCm39) probably benign Het
Ulk1 T C 5: 110,935,487 (GRCm39) D926G probably damaging Het
Vmn2r110 T C 17: 20,804,033 (GRCm39) I181V probably benign Het
Vmn2r66 G A 7: 84,656,020 (GRCm39) T332I probably damaging Het
Wdr1 C A 5: 38,688,453 (GRCm39) D161Y probably damaging Het
Wnt7a T C 6: 91,371,539 (GRCm39) Y141C probably damaging Het
Xrra1 G A 7: 99,565,150 (GRCm39) E573K probably benign Het
Zfp334 G T 2: 165,223,771 (GRCm39) Q91K possibly damaging Het
Other mutations in Ckmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Ckmt2 APN 13 92,011,382 (GRCm39) missense probably damaging 1.00
IGL01359:Ckmt2 APN 13 92,009,939 (GRCm39) missense probably damaging 1.00
IGL02138:Ckmt2 APN 13 92,009,947 (GRCm39) missense probably benign 0.44
IGL02372:Ckmt2 APN 13 92,013,343 (GRCm39) missense probably benign 0.02
IGL02714:Ckmt2 APN 13 92,006,427 (GRCm39) missense possibly damaging 0.64
IGL02866:Ckmt2 APN 13 92,006,400 (GRCm39) nonsense probably null
R0329:Ckmt2 UTSW 13 92,011,322 (GRCm39) missense possibly damaging 0.93
R0330:Ckmt2 UTSW 13 92,011,322 (GRCm39) missense possibly damaging 0.93
R0593:Ckmt2 UTSW 13 92,001,757 (GRCm39) missense probably damaging 0.99
R1438:Ckmt2 UTSW 13 92,007,971 (GRCm39) splice site probably benign
R1529:Ckmt2 UTSW 13 92,009,320 (GRCm39) missense probably benign
R1616:Ckmt2 UTSW 13 92,007,328 (GRCm39) missense probably benign 0.16
R2114:Ckmt2 UTSW 13 92,003,964 (GRCm39) missense probably benign 0.05
R2117:Ckmt2 UTSW 13 92,003,964 (GRCm39) missense probably benign 0.05
R4300:Ckmt2 UTSW 13 92,011,457 (GRCm39) critical splice acceptor site probably null
R5038:Ckmt2 UTSW 13 92,009,282 (GRCm39) missense probably benign 0.01
R5322:Ckmt2 UTSW 13 92,009,891 (GRCm39) missense possibly damaging 0.59
R7539:Ckmt2 UTSW 13 92,008,063 (GRCm39) missense probably damaging 1.00
R8039:Ckmt2 UTSW 13 92,011,431 (GRCm39) missense possibly damaging 0.94
R8189:Ckmt2 UTSW 13 92,003,894 (GRCm39) missense probably damaging 0.99
R8258:Ckmt2 UTSW 13 92,007,335 (GRCm39) missense probably damaging 1.00
R8259:Ckmt2 UTSW 13 92,007,335 (GRCm39) missense probably damaging 1.00
R9127:Ckmt2 UTSW 13 92,007,337 (GRCm39) missense probably damaging 1.00
R9231:Ckmt2 UTSW 13 92,011,311 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16