Incidental Mutation 'IGL01359:Ckmt2'
ID 75648
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 # IGL01359
Quality Score
Status
Chromosome 13
Chromosomal Location 92001510-92025001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 92009939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 127 (I127N)
Ref Sequence ENSEMBL: ENSMUSP00000022122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022122]
AlphaFold Q6P8J7
Predicted Effect probably damaging
Transcript: ENSMUST00000022122
AA Change: I127N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022122
Gene: ENSMUSG00000021622
AA Change: I127N

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 G A 17: 43,621,577 (GRCm39) E605K probably damaging Het
Adgrl4 G A 3: 151,248,923 (GRCm39) C737Y probably damaging Het
Ankk1 A T 9: 49,327,328 (GRCm39) I617N possibly damaging Het
B3gat2 T C 1: 23,802,301 (GRCm39) F196L probably damaging Het
Bcl2l14 T A 6: 134,400,828 (GRCm39) I83N probably damaging Het
Bcr T C 10: 74,995,611 (GRCm39) probably benign Het
Dhx33 G A 11: 70,884,687 (GRCm39) Q40* probably null Het
Dnah11 T C 12: 117,946,734 (GRCm39) T3117A probably damaging Het
Dnai2 A G 11: 114,642,614 (GRCm39) Y405C probably benign Het
Emc2 A G 15: 43,375,145 (GRCm39) Y214C probably damaging Het
Fbxw2 T C 2: 34,712,762 (GRCm39) T100A probably benign Het
Fkrp C T 7: 16,545,415 (GRCm39) R149Q probably benign Het
Fsd1l A G 4: 53,659,601 (GRCm39) R153G possibly damaging Het
Galnt4 T C 10: 98,945,459 (GRCm39) Y395H probably damaging Het
Gk5 T C 9: 96,019,842 (GRCm39) L126P probably damaging Het
Gm973 A G 1: 59,669,438 (GRCm39) S830G probably benign Het
Gpc5 G A 14: 115,607,162 (GRCm39) G255S possibly damaging Het
Grk3 C A 5: 113,085,626 (GRCm39) S370I probably damaging Het
Herc1 A G 9: 66,346,550 (GRCm39) D1972G probably benign Het
Itih3 T A 14: 30,639,729 (GRCm39) D364V probably damaging Het
Lce1f G T 3: 92,626,491 (GRCm39) C55* probably null Het
Ltn1 A C 16: 87,202,581 (GRCm39) probably benign Het
Lyl1 C T 8: 85,429,315 (GRCm39) A8V possibly damaging Het
Mdn1 A G 4: 32,743,686 (GRCm39) E3974G probably benign Het
Msl3l2 T C 10: 55,992,340 (GRCm39) V355A probably damaging Het
Nadsyn1 T C 7: 143,374,967 (GRCm39) I30V possibly damaging Het
Nuggc T C 14: 65,860,656 (GRCm39) V418A probably damaging Het
Or4f57 A T 2: 111,791,406 (GRCm39) M4K probably benign Het
Or52e8 T C 7: 104,625,193 (GRCm39) probably null Het
Or52m2 A T 7: 102,263,379 (GRCm39) H272Q probably benign Het
Ppp4r3a T C 12: 101,024,755 (GRCm39) E248G probably damaging Het
Rab3gap2 T A 1: 184,971,067 (GRCm39) V234E probably damaging Het
Radil G A 5: 142,529,468 (GRCm39) T105I probably damaging Het
Saa4 A G 7: 46,381,060 (GRCm39) W21R possibly damaging Het
Sec62 G A 3: 30,868,455 (GRCm39) S228N unknown Het
Setd4 C T 16: 93,388,127 (GRCm39) G120S probably damaging Het
Sgpl1 G A 10: 60,936,687 (GRCm39) T556I probably benign Het
Slc14a2 T C 18: 78,197,323 (GRCm39) D811G probably benign Het
Slc26a11 A T 11: 119,254,257 (GRCm39) M192L probably benign Het
Spon1 A T 7: 113,633,525 (GRCm39) Q656L probably damaging Het
Tex15 A G 8: 34,071,926 (GRCm39) D2491G probably damaging Het
Tox T C 4: 6,697,583 (GRCm39) T407A probably damaging Het
Ubr5 A T 15: 37,973,250 (GRCm39) I2611N probably damaging Het
Usp25 G A 16: 76,856,141 (GRCm39) A245T probably damaging Het
Vwa8 C A 14: 79,302,353 (GRCm39) Y1007* probably null Het
Zfp423 T C 8: 88,507,290 (GRCm39) H893R probably damaging Het
Zfp507 A G 7: 35,493,927 (GRCm39) I372T probably damaging Het
Other mutations in Ckmt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Ckmt2 APN 13 92,011,382 (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
IGL02415:Ckmt2 APN 13 92,011,459 (GRCm39) splice site probably benign
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 2013-10-07