Ckmt1 MGI Mouse Gene Detail - MGI:99441 - creatine kinase, mitochondrial 1, ubiquitous

Symbol

Ckmt1
Name

creatine kinase, mitochondrial 1, ubiquitous
Synonyms

mi-CK, Mt-CK, UbCKmit

Feature Type

protein coding gene
IDs

MGI:99441
NCBI Gene: 12716
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr2:121188254-121194218 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 60.37 cM, cytoband F1-F3
Mapping Data

7 experiments
Sequence Tag

D2Mit134

SNPs within 2kb

44 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_99441	protein coding gene	Chr2:121188195-121194218 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026388	protein coding gene	Chr2:124247631-124253641 (+)
A/J	MGP_AJ_G0026349	protein coding gene	Chr2:119170702-119176696 (+)
AKR/J	MGP_AKRJ_G0026328	protein coding gene	Chr2:122516902-122522901 (+)
BALB/cJ	MGP_BALBcJ_G0026362	protein coding gene	Chr2:119404587-119410604 (+)
C3H/HeJ	MGP_C3HHeJ_G0026108	protein coding gene	Chr2:122994705-123000705 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026809	protein coding gene	Chr2:128320494-128326510 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024189	protein coding gene	Chr2:114214920-114221214 (+)
CAST/EiJ	MGP_CASTEiJ_G0025570	protein coding gene	Chr2:123320804-123326808 (+)
CBA/J	MGP_CBAJ_G0026084	protein coding gene	Chr2:132785997-132792000 (+)
DBA/2J	MGP_DBA2J_G0026223	protein coding gene	Chr2:118566808-118572805 (+)
FVB/NJ	MGP_FVBNJ_G0026185	protein coding gene	Chr2:117386889-117392886 (+)
LP/J	MGP_LPJ_G0026324	protein coding gene	Chr2:124504393-124510391 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026204	protein coding gene	Chr2:137064916-137071034 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026864	protein coding gene	Chr2:122631960-122637965 (+)
PWK/PhJ	MGP_PWKPhJ_G0025306	protein coding gene	Chr2:118178014-118184158 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025105	protein coding gene	Chr2:121839302-121845304 (+)
WSB/EiJ	MGP_WSBEiJ_G0025639	protein coding gene	Chr2:123456686-123462736 (+)

Human Ortholog

CKMT1A, creatine kinase, mitochondrial 1A

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CKMT1A, creatine kinase, mitochondrial 1A
Synonyms

CKMT1, mia-CK, U-MtCK
Links

HGNC:31736

NCBI Gene ID: 548596

neXtProt AC: NX_P12532

UniProt: P12532
Chr Location

15q15.3; chr15:43692644-43699222 (+) GRCh38.p7

Human Ortholog

CKMT1B, creatine kinase, mitochondrial 1B
Synonyms

CKMT, CKMT1, UMTCK
Links

HGNC:1995

NCBI Gene ID: 1159

neXtProt AC: NX_P12532

UniProt: P12532
Chr Location

15q15.3; chr15:43592857-43599406 (+) GRCh38.p7

Alliance of Genome Resources

Ckmt1 stringent orthology
2 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CKMT1A, CKMT1B
Gene Tree

Ckmt1

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Phenotype Summary

13 phenotypes from 1 allele in 1 genetic background
9 phenotypes from multigenic genotypes
15 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

6
Chemically induced (other)

1
Endonuclease-mediated

1
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Ckmt1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

19 strains or lines available

Mice homozygous for a knock-out allele have no visual or motor impairments but display diminished open field habituation and slower spatial learning acquisition in the Morris water maze task as well as a reduced acoustic startle response, higher threshold, and lack of prepulse inhibition.

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All GO Annotations

25
GO References

10

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1006
Tissues

141
cDNA Data

11
Literature Summary

6

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ckmt1b

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Ckmt1 interacts with 150 markers (Mir1b, Mir23a, Mir23b, ...) View All

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All Sequences

71
RefSeq

16
UniProt

8
CCDS

CCDS16640.1

Ensembl

ENSMUSG00000000308 (Evidence)
NCBI Gene

12716

			Length	Strain/Species	Flank
genomic	12716	NCBI Gene Model \| MGI Sequence Detail	5965	C57BL/6J	± kb
transcript	NM_001416952	RefSeq \| MGI Sequence Detail	1607	C57BL/6
polypeptide	P30275	UniProt \| EBI \| MGI Sequence Detail	418	Not Applicable

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UniProt

8 Sequences
Protein Ontology

PR:000005516 creatine kinase U-type, mitochondrial

(term hierarchy)
EC

2.7.3.2
InterPro Domains

IPR000749 ATP:guanido phosphotransferase

IPR022415 ATP:guanido phosphotransferase active site

IPR022414 ATP:guanido phosphotransferase, catalytic domain

IPR022413 ATP:guanido phosphotransferase, N-terminal

IPR036802 ATP:guanido phosphotransferase, N-terminal domain superfamily

IPR014746 Glutamine synthetase/guanido kinase, catalytic domain

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All nucleic 19

Genomic 3

cDNA 12

Primer pair 2

Other 2

Microarray probesets 5

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MGD-MRK-16205

Summaries

All 61

Developmental Gene Expression 6

Gene Ontology 10

Phenotypes 15
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:257429 Tachikawa M, et al., Cell-Type-Specific Spatiotemporal Expression of Creatine Biosynthetic Enzyme S-adenosylmethionine:guanidinoacetate N-methyltransferase in Developing Mouse Brain. Neurochem Res. 2018 Feb;43(2):500-510

TSS for Ckmt1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr19750	Chr2:121188249-121188263 (+)	2 bp
Tssr19751	Chr2:121189072-121189194 (+)	879 bp
Tssr622	Chr2:121189362-121189365 (+)	1,110 bp
Tssr19752	Chr2:121189754-121189759 (+)	1,503 bp
Tssr19753	Chr2:121190039-121190050 (+)	1,791 bp
Tssr19754	Chr2:121194142-121194151 (+)	5,893 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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