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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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si:ch211-158m24.10
- Ensembl ID:
- ENSDARG00000090103
- ZFIN ID:
- ZDB-GENE-070705-71
- Description:
- Novel myosin family protein [Source:UniProtKB/TrEMBL;Acc:B8A559]
- Human Orthologues:
- MYH6, MYH7
- Human Descriptions:
- myosin, heavy chain 6, cardiac muscle, alpha [Source:HGNC Symbol;Acc:7576]
- myosin, heavy chain 7, cardiac muscle, beta [Source:HGNC Symbol;Acc:7577]
- Mouse Orthologues:
- Myh6, Myh7
- Mouse Descriptions:
- myosin, heavy polypeptide 6, cardiac muscle, alpha Gene [Source:MGI Symbol;Acc:MGI:97255]
- myosin, heavy polypeptide 7, cardiac muscle, beta Gene [Source:MGI Symbol;Acc:MGI:2155600]
Alleles
There are 7 alleles of this gene:
Allele name | Consequence | Status | Availability Estimate |
---|---|---|---|
sa7568 | Missense | Mutation detected in F1 DNA | During 2018 |
sa30619 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
sa12688 | Nonsense | Available for shipment | Available now |
sa14985 | Nonsense | Available for shipment | Available now |
sa31459 | Nonsense | Available for shipment | Available now |
sa6987 | Nonsense | Mutation detected in F1 DNA | During 2018 |
sa20462 | Nonsense | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa7568
- Current Status:
-
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- We currently estimate that this allele will be available during 2018.
- Mutation:
- C > A
- Consequence:
- Missense
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000098111 | None | 232 | None | 7 | |
ENSDART00000139917 | Missense | 66 | 1222 | 3 | 23 |
The following genes are also affected by this mutation:
- Genomic Location (Zv9):
- Chromosome 5 (position 33889011)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 5 31651243 GRCz11 5 32251396 - KASP Assay ID:
- 554-4016.1 (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- GAATTCAGGTGTTCTTCAAAGCTGGTCTKCTGGGTACTCTTGAGGAGATG[C/A]GTGATGAGAAACTGGCTAGTCTGGTCACAATGACYCAGGCTCTCTGCCGT
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa30619
- Current Status:
-
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- We currently estimate that this allele will be available during 2018.
- Mutation:
- A > T
- Consequence:
- Essential Splice Site
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000098111 | None | 232 | None | 7 | |
ENSDART00000139917 | Essential Splice Site | 264 | 1222 | None | 23 |
The following genes are also affected by this mutation:
- Genomic Location (Zv9):
- Chromosome 5 (position 33889845)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 5 31652077 GRCz11 5 32252230 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- ATACAGTATATATTGTAAAATAACTAAGCGTATTTGAAATCAAATCACAC[A/T]GGTTAAGAACTTGACAGAGGAAATGGCATCTCAGGATGAGAGCATTGCCA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa12688
- Current Status:
-
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
-
Order Allele From ZIRC
Order Allele From EZRC - Mutation:
- T > A
- Consequence:
- Nonsense
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000098111 | None | 232 | None | 7 | |
ENSDART00000139917 | Nonsense | 664 | 1222 | 12 | 23 |
- Genomic Location (Zv9):
- Chromosome 5 (position 33892127)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 5 31654359 GRCz11 5 32254512 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- CGGGGAATGTCAAAGGCAAACAGTGAGGTTGCTCAGTGGAGAACCAAATA[T/A]GAAACTGMTGCCATCCAGCGCACWGAAGARCTTGAAGAATCCAAGTATGA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa14985
- Current Status:
-
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
-
Order Allele From ZIRC
Order Allele From EZRC - Mutation:
- A > T
- Consequence:
- Nonsense
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000098111 | None | 232 | None | 7 | |
ENSDART00000139917 | Nonsense | 736 | 1222 | 13 | 23 |
- Genomic Location (Zv9):
- Chromosome 5 (position 33892422)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 5 31654654 GRCz11 5 32254807 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- TTGATGTGGAGAGAGCCAATTCTTTGGCTGCCAACCTTGACAAAAAGCAG[A/T]GRAACTTTGACAAGGTAAAATATGTAGTCATGTTGTGATGTGATGTTCNT
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa31459
- Current Status:
-
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- Order Allele From ZIRC
- Mutation:
- C > T
- Consequence:
- Nonsense
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000098111 | None | 232 | None | 7 | |
ENSDART00000139917 | Nonsense | 983 | 1222 | 17 | 23 |
- Genomic Location (Zv9):
- Chromosome 5 (position 33893585)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 5 31655817 GRCz11 5 32255970 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GAAACACTCTGATGCAGTCTGAGATCGAAGAGCTGAGAGCTGCTCTGGAG[C/T]AGACAGAGAGAGGACGCAAAGTGGCTGAACAAGAGCTGGTGGATGCCAGT
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa6987
- Current Status:
-
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- We currently estimate that this allele will be available during 2018.
- Mutation:
- T > A
- Consequence:
- Nonsense
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000098111 | Nonsense | 143 | 232 | 4 | 7 |
ENSDART00000139917 | Nonsense | 1132 | 1222 | 20 | 23 |
- Genomic Location (Zv9):
- Chromosome 5 (position 33894332)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 5 31656564 GRCz11 5 32256717 - KASP Assay ID:
- 554-4468.1 (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- GATGCAGAGCAGAGACGTGGAGCTGATGCTGTTAAAGGCGTCCGCAAATA[T/A]GAGAGGAGAGTCAAGGAGCTCACCTACCAGGTAAAGACATCAGAGCACAA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa20462
- Current Status:
-
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
-
Order Allele From ZIRC
Order Allele From EZRC - Mutation:
- A > T
- Consequence:
- Nonsense
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000098111 | Nonsense | 146 | 232 | 4 | 7 |
ENSDART00000139917 | Nonsense | 1135 | 1222 | 20 | 23 |
- Genomic Location (Zv9):
- Chromosome 5 (position 33894339)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 5 31656571 GRCz11 5 32256724 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- AGCAGAGACGTGGAGCTGATGCTGTTAAAGGCGTCCGCAAATATGAGAGG[A/T]GAGTCAAGGAGCTCACCTACCAGGTAAAGACATCAGAGCACAAATTTTTA
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Electrocardiographic traits: Several common variants modulate heart rate, PR interval and QRS duration. (View Study)
- Resting heart rate: Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants. (View Study)
- Resting heart rate: Genome-wide association analysis identifies multiple loci related to resting heart rate. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
OMIM
- Atrial septal defect 3
- Cardiomyopathy, dilated, 1EE
- Cardiomyopathy, familial hypertrophic, 14
- Sick sinus syndrome 3
Register
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