
e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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vmhcl
- Ensembl ID:
- ENSDARG00000079782
- ZFIN ID:
- ZDB-GENE-061027-393
- Description:
- ventricular myosin heavy chain-like [Source:RefSeq peptide;Acc:NP_001070932]
- 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 |
---|---|---|---|
sa18394 | Nonsense | Available for shipment | Available now |
sa6839 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
sa19748 | Nonsense | Available for shipment | Available now |
sa19749 | Essential Splice Site | Available for shipment | Available now |
sa39820 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
sa16260 | Nonsense | Available for shipment | Available now |
sa39821 | Nonsense | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa18394
- 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:
- C > A
- Consequence:
- Nonsense
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000078958 | Nonsense | 555 | 1943 | 14 | 37 |
ENSDART00000123064 | Nonsense | 546 | 638 | 16 | 17 |
ENSDART00000123565 | None | 242 | None | 8 | |
ENSDART00000128784 | Nonsense | 551 | 1936 | 16 | 39 |
ENSDART00000137560 | None | 99 | None | 2 | |
ENSDART00000141922 | None | 167 | None | 4 |
The following transcripts of ENSDARG00000079782 do not overlap with this mutation:
- Genomic Location (Zv9):
- Chromosome 2 (position 23579941)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 2 24628554 GRCz11 2 24284205 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- GAGTGCATGTTTCCCAAAGCCAGTGATGCAAYCTTTAAAGCAAAGCTTTA[C/A]GACAACCATCTTGGGAAATCAAACAATTTCCAGAAACCCAGGCTTGTKAA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa6839
- 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 > C
- Consequence:
- Essential Splice Site
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000078958 | Essential Splice Site | 901 | 1943 | 20 | 37 |
ENSDART00000123064 | None | 638 | None | 17 | |
ENSDART00000123565 | None | 242 | None | 8 | |
ENSDART00000128784 | Essential Splice Site | 894 | 1936 | 22 | 39 |
ENSDART00000137560 | None | 99 | None | 2 | |
ENSDART00000141922 | None | 167 | None | 4 |
The following transcripts of ENSDARG00000079782 do not overlap with this mutation:
- Genomic Location (Zv9):
- Chromosome 2 (position 23583582)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 2 24624913 GRCz11 2 24280564 - KASP Assay ID:
- 554-5235.1 (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- AATACAAGATCTGTATGCAGGTAATGCATTATCTATTAAATATATTTAAC[A/C]GGAGCAAGACAACCTCTGTGATGCTGAAGAAAGGTGTGAAGGTCTGATCA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa19748
- 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 |
---|---|---|---|---|---|
ENSDART00000078958 | Nonsense | 1110 | 1943 | 23 | 37 |
ENSDART00000123064 | None | 638 | None | 17 | |
ENSDART00000123565 | None | 242 | None | 8 | |
ENSDART00000128784 | Nonsense | 1103 | 1936 | 25 | 39 |
ENSDART00000137560 | None | 99 | None | 2 | |
ENSDART00000141922 | None | 167 | None | 4 |
The following transcripts of ENSDARG00000079782 do not overlap with this mutation:
- Genomic Location (Zv9):
- Chromosome 2 (position 23584459)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 2 24624036 GRCz11 2 24279687 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- AAATCAGTCAGCTCAACAGTAAAATCGACGATGAGCAAAGCATAATTATC[C/T]AACTCCAAAAGAAACTCAAGGAGTTGCAGGTACATTGACCATACGTGATG
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa19749
- 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:
- T > C
- Consequence:
- Essential Splice Site
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000078958 | Essential Splice Site | 1119 | 1943 | 23 | 37 |
ENSDART00000123064 | None | 638 | None | 17 | |
ENSDART00000123565 | None | 242 | None | 8 | |
ENSDART00000128784 | Essential Splice Site | 1112 | 1936 | 25 | 39 |
ENSDART00000137560 | None | 99 | None | 2 | |
ENSDART00000141922 | None | 167 | None | 4 |
The following transcripts of ENSDARG00000079782 do not overlap with this mutation:
- Genomic Location (Zv9):
- Chromosome 2 (position 23584490)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 2 24624005 GRCz11 2 24279656 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TGAGCAAAGCATAATTATCCAACTCCAAAAGAAACTCAAGGAGTTGCAGG[T/C]ACATTGACCATACGTGATGTTCTGTTCATCTTTGTAGTGTGCATTTTTAA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa39820
- 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:
- G > A
- Consequence:
- Essential Splice Site
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000078958 | Essential Splice Site | 1249 | 1943 | 24 | 37 |
ENSDART00000123064 | None | 638 | None | 17 | |
ENSDART00000123565 | None | 242 | None | 8 | |
ENSDART00000128784 | Essential Splice Site | 1242 | 1936 | 26 | 39 |
ENSDART00000137560 | None | 99 | None | 2 | |
ENSDART00000141922 | None | 167 | None | 4 |
The following transcripts of ENSDARG00000079782 do not overlap with this mutation:
- Genomic Location (Zv9):
- Chromosome 2 (position 23584960)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 2 24623535 GRCz11 2 24279186 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TGGAGTTGGATGATGTAGCCTCCAGCATGGAGCATATTGTGAAGTCCAAG[G/A]TGAATTGAATTGCTTGACTTTTTTAAAAGAACAACGAAATTACAATTCAA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa16260
- 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 |
---|---|---|---|---|---|
ENSDART00000078958 | Nonsense | 1507 | 1943 | 29 | 37 |
ENSDART00000123064 | None | 638 | None | 17 | |
ENSDART00000123565 | None | 242 | None | 8 | |
ENSDART00000128784 | Nonsense | 1500 | 1936 | 31 | 39 |
ENSDART00000137560 | None | 99 | None | 2 | |
ENSDART00000141922 | None | 167 | None | 4 |
The following transcripts of ENSDARG00000079782 do not overlap with this mutation:
- Genomic Location (Zv9):
- Chromosome 2 (position 23586853)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 2 24621642 GRCz11 2 24277293 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- AKTTGAAGAACTCATATGAGGAATCTATRGATCACCTGGAAACCATGAAG[A/T]GAGAGAACAAGATTCTGCAAGGTTTCTATTTTATACACSTTTCCAWAAAC
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa39821
- 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 > T
- Consequence:
- Nonsense
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000078958 | Nonsense | 1809 | 1943 | 33 | 37 |
ENSDART00000123064 | None | 638 | None | 17 | |
ENSDART00000123565 | None | 242 | None | 8 | |
ENSDART00000128784 | Nonsense | 1802 | 1936 | 35 | 39 |
ENSDART00000137560 | None | 99 | None | 2 | |
ENSDART00000141922 | None | 167 | None | 4 |
The following transcripts of ENSDARG00000079782 do not overlap with this mutation:
- Genomic Location (Zv9):
- Chromosome 2 (position 23588105)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 2 24620390 GRCz11 2 24276041 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- ACATGGAGCAGACCATTAAGGACCTGCAGCATCGCCTGGATGAAGCAGAA[C/T]AAATCGCTATGAAGGGAGGAAAGAAACAAGTCCAGAAACTGGAGGCCAGG
- 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
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