Busch Lab

ZMP

ckmt2

Ensembl ID:
ENSDARG00000039929
ZFIN ID:
ZDB-GENE-040426-1654
Description:
creatine kinase S-type, mitochondrial [Source:RefSeq peptide;Acc:NP_956991]
Human Orthologue:
CKMT2
Human Description:
creatine kinase, mitochondrial 2 (sarcomeric) [Source:HGNC Symbol;Acc:1996]
Mouse Orthologue:
Ckmt2
Mouse Description:
creatine kinase, mitochondrial 2 Gene [Source:MGI Symbol;Acc:MGI:1923972]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa9598 Splice Site, Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa9598
Status:
Available for shipment
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Availability:
Order Allele From ZIRC
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Mutation:
G > A
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048210 Splice Site, Nonsense 247 413 5 9
ENSDART00000055857 Splice Site, Nonsense 247 413 6 10
ENSDART00000058403 None None 413 None 10
Genomic Location (Zv9):
Chromosome 5 (position 53456017)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 50955941
GRCz11 5 51602534
KASP Assay ID:
2259-6518.1 (used for ordering genotyping assays)
KASP Sequence:
CCTCACCGCATCTGGTATGGCTAGAGATTGGCCAGATGCTCGTGGCATTT[G/A]GTAAGAACATGCAGTTAGAGCNNATCATTTCCCWATAGCAAATCCTTTTCCT
Long Flanking Sequence:
TATTTAACTTTTCTGAATATTGGCTGCAGTGTCTTACAGAACTAAAGAGGTCTCCATTAGAAAGTTATGGCAGTATATCATTCTAATGTACAGTGAAAGACAAATACCTGTACAAACAAATCCAGCAAGTATTCAGACTAATATTTAATGAAGAAATCAGAGAAAAATGCAAACACACATAGTATAGTCACTTACTTTGGCCTACAACGCTGCATTGTTTTCTATCTGTACATAGACATTTGTTGACCTTTATAATGTTTTGTAATGTTATTCAACAATAAAAAAGCTGGTCAACTGATCAATTCTTGCTGTTATAGCTAGCTTTGGAGCCACTAGTCCAGTATCAAAGACACAGCTGCATTTTATAATTCTTTAACAAACCTCACTGCTCTTGTCTTATCATGGCCTACCAAAGGAGCACTTCCTCTTTGATAAACCAGTGTCTCCTCTCCTCACCGCATCTGGTATGGCTAGAGATTGGCCAGATGCTCGTGGCATTT[G/A]GTAAGAACATGCAGTTAGAGCATCATTTCCCTATAGCAAATCCTTTTCCTAGTCCCCCGTAAACGTTTGTATTTCAGATTTTGTTGTTGTTGTTATAATTCTATGTGAACATTGCAATACAAACAATATAGAAATACAAATAAAATTTACAAATAATAATATTTGGTCATACTGAAGCCTCAAAATCCAGACAATAGCTAAGGGGTTGACCCATTCTTGGAAAATGACACTATCTGACAAAAATATTGTCGTGGATCCCAGTTGTAAGAGCAACAAATAATAACTTGACTATTAGTTGATCATTTGGAAAAGTGGCAGAAGATTGATTTTTCTGATGAATCATCTGTTGAACTGCATCCCAATCATCACAAATACTGTAGAACACCTATTGGAACCCGCATGGACCCAAGATTCTTGCAGAAATCAGTCAAGTTTGGTCATGGTTTGGAGTTACATTCAGTATGGGGGCGTGCTCAAGAGGGTAAAGTCTAGATCGGATA
Associated Phenotype:
Not determined