ZMP
mybpc3
Ensembl ID:
ZFIN ID:
Description:
myosin binding protein C, cardiac [Source:RefSeq peptide;Acc:NP_001037814]
Human Orthologue:
MYBPC3
Human Description:
myosin binding protein C, cardiac [Source:HGNC Symbol;Acc:7551]
Mouse Orthologue:
Mybpc3
Mouse Description:
myosin binding protein C, cardiac Gene [Source:MGI Symbol;Acc:MGI:102844]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa7070 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa34102 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa40932 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa7070
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000099785 | Essential Splice Site | 185 | 371 | None | 11 |
| ENSDART00000099789 | None | None | 524 | None | 10 |
| ENSDART00000122506 | Essential Splice Site | 185 | 363 | None | 10 |
| ENSDART00000138491 | None | None | 204 | None | 3 |
| ENSDART00000139899 | Essential Splice Site | 185 | 1276 | None | 30 |
| ENSDART00000144679 | Essential Splice Site | 95 | 122 | None | 4 |
Genomic Location (Zv9):
Chromosome 7 (position 33182342)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 31576682 |
| GRCz11 | 7 | 31847832 |
KASP Assay ID:
554-4921.1 (used for ordering genotyping assays)
KASP Sequence:
AACTGAAAGTGAATACAAATGGWAAAACTTACAATCTTTTCTTCCCATTW[A/C]GGTGAAAACATTATTTTCATTGCTCGGGTGTGTGGTGAGTCTYTGCTGAA
Long Flanking Sequence:
TATATATATATAACTTAGAAATTATTTTGCCTCTAAACAAAAGGGGAAAAAATAATGATGCGAGTATAGAGTATATTAATCAACTGGCTGTAGTTCACTTAATAACATCTGTTGTCGTTAAAAAGAAGCATTTCTGAATTCCATTAGCAGCTTTATGCCCCTGAAAGTCAGGGACTAAGGCTAAATGTATGAATAATTATTGAATGAATGAATTATTGGTTAAATATTTTGCTTTGATCTAGTTATGTATGTTCTGAATGTGTCACTATACTTTATATTTGACATCGCAAAGTTTTAAATTCTCAGATGAATTTCAAACCTGTTTTGCTATTTGTTTTTAAGCTCTGCCTGAGAGTCATCAGCCTGACACAAGGCAGGACCTTACAGGACTCTTCACTGAGAAACCTCACAGCGGGGAGGTGAATGTTGGTGAGTGACAGTCCATCTAGAAACTGAAAGTGAATACAAATGGAAAAACTTACAATCTTTTCTTCCCATTT[A/C]GGTGAAAACATTATTTTCATTGCTCGGGTGTGTGGTGAGTCTCTGCTGAAGAAGCCCACGGTGAAATGGTTCAAAGGAAAGTGGATGGATCTGGCCAGCAAGTCAGGAAAGCACCTGCAGCTCAAAGAGCACTATGACCGCAACACTAAGGTCTGACCACAGGAAAACAGATTTAAACTAAACTATTATATTTCCTCAATATCTTCAGAACGTGAAATCAAAAATAAGTGACAAACTTTTTTCTAATTTTTTTTGTATTCAGGTGTACACATTTGAGATGCATATCATTGCAGCTAAAGCCAACTTTGCCGGAGCCTATCGCTGTGAGGTGTCATCTAGAGACAAGTTTGACAGCTGTAATTTTGACCTCATAGTACATGGTAAGACTCAGATCATAGGCCTGACAAAATGTATACAAGAATATGCATGTTTGATATATAGCCATACAGAATGTGTTCATTTACTAGTAAAGCAAAATTAGATCTGAAAGAGAGTCTTGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34102
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000099785 | None | None | 371 | None | 11 |
| ENSDART00000099789 | Essential Splice Site | 209 | 524 | 3 | 10 |
| ENSDART00000122506 | None | None | 363 | None | 10 |
| ENSDART00000138491 | None | None | 204 | None | 3 |
| ENSDART00000139899 | Essential Splice Site | 963 | 1276 | 23 | 30 |
| ENSDART00000144679 | None | None | 122 | None | 4 |
Genomic Location (Zv9):
Chromosome 7 (position 33217790)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 31612130 |
| GRCz11 | 7 | 31883280 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGCGCTCCAGCCACACTGCAACAAGCAGTCACTATCCGTGAAATCATGC[G/A]TGAGTTACACAGACAATGACCTTAAAATGTAAGGCTTACAGAATCATTAA
Long Flanking Sequence:
TAATTTATGATGTTTATCCAGAGATTCCTTACTGTTCAACTTCAACTGTTTATCTTTACAAAGGCAGCATTTAAATGAGAAAACAAATCTTTTTAAAAGCATAGCATACACAACTTTTTTTATTTTGTCATCAATTACTCACCATTTACATGTTGAGTTTCTTTATTCTGTTGAAAAAGAAGATATTTTGTAAAATGTTGCAAACCTGTAAATATTACGTCATTAATTAATCTTACATCATACCCGTTTTGTAACTGGATCATACCCAAACTCGAATATATGGAATAGATCCTTCGTGTTCTGTGTCTGAAGCCAGTGTTTCACTGTTTCAGCTGATGAATGGATCCCCGCATTTTCGGGTCTCACAGAAAGGACCTCTGTGATCATCCGTGACCTGCCAACTGGAGAGAAGATGCAGTTCCGCGTGAGGGCATATAATATGGCAGGCCCGAGCGCTCCAGCCACACTGCAACAAGCAGTCACTATCCGTGAAATCATGC[G/A]TGAGTTACACAGACAATGACCTTAAAATGTAAGGCTTACAGAATCATTAAAAGGCAATTTCCCTATTCTATAAAATTCCATACACAATAATGCACCATGTTTACTCTATATATTATTATGTTGTGTTACCTCATTGATAATTTGATTTGAGTGAATACTGCAGCACATTATTATTCCAGCATTGGGATGGAAATGGTAAAATGGTGCAGGATTATCGTGTGAATCACTCATGTTCTCTTATTGCAGAGCGGCCCAAAATCTGGCTCCCCCGTAACCTGCGTCAGACACTCATCAAGAAAGTCGGAGAAACCATTAACCTGGTAATCCCTTTCCAGGTGAGAAGTCATCTTTCAGATTGTGTTTTTACAAGCACACTCCTGACAAAATACAGAGCGCTGCAGAATGTGTGAATAATCCATTTGAGCCTCTGATAAATGAAAACCATTTGGACTCATTTCCTGTCAGACGTCCTGTGAGTGATATGGAAGATCCAGCAAAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40932
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > G
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000099785 | None | None | 371 | None | 11 |
| ENSDART00000099789 | Nonsense | 284 | 524 | 5 | 10 |
| ENSDART00000122506 | None | None | 363 | None | 10 |
| ENSDART00000138491 | None | None | 204 | None | 3 |
| ENSDART00000139899 | Nonsense | 1038 | 1276 | 25 | 30 |
| ENSDART00000144679 | None | None | 122 | None | 4 |
Genomic Location (Zv9):
Chromosome 7 (position 33220270)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 31614610 |
| GRCz11 | 7 | 31885760 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATACCATCCTCTTCATCAGGAGATCTGAGAGAAAGGATTCTGGGAAATA[T/G]GATGTTCAAGTGCAAATTGAAAATGTGGAGGACAAAGCCAGTGTGAATAT
Long Flanking Sequence:
TTTATCCATCCAACTATCAATCTAATCATCCATACTCAACCTGTCTGCCTATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCAATCTAACCATCTCTACACAACCTGTCTGCCTATCCATTCATCCATCCATCCAACCATCTCTACACAACCTGTCTGCCTATCCATTCATCCATCTAACCATCCATCCATCCATCCATCCATTTAATCAATCCATACATATCTGCCTAGCAATTAATCCATTCATTTAAACATTCATGCACAACCTTTCTGCCTATCCATTCATCAATATTTGGCATAACAAAAGTGTTTCTTTTCATTAATGTAGTCAGCAATTTATTTTTTTAGGGTAAACCCCGACCTCAGGTATCCTGGACGAAAAACGATGAGCCTCTGGATCCTAAATCAGTCAGTATACGGAACAGTGACACTGATACCATCCTCTTCATCAGGAGATCTGAGAGAAAGGATTCTGGGAAATA[T/G]GATGTTCAAGTGCAAATTGAAAATGTGGAGGACAAAGCCAGTGTGAATATACAGATTGTTGGTGAGTTCCTAGGAATTGTTTAATAGCATATGGTGTCATTCAAACAATAAAAATGCATTTTGCTCTTTTTCAATCTCAGATGTGCCAGGTCCACCCCAAAATTTAAAGGTGATGGATGTTTGGGGCTTCAATGTTGCCCTGGAGTGGAAACCACCTAAGGATAATGGGAACTGTGACATCACAGGCTACAACATCCAGAAGGCTGACAAGAAAACCATGGTAAACCCAAACCTTTGTTTTCTTTGGCATATAGTTATACATACATACATACAGTGAAGTGGAAAATTGTCTTATGTGTTTAGTAAGTTTGCTATACTGCTCACAAACCACATATTATACACTTTTATTGAGGATGTGAAATTGTGTGCCAGCAGGGGGCTAGCTGCAACAAACCCCACCCCCAACCAATTTTTTTCCAGAGATGATTTCTGTCATGTTA
Associated Phenotype:
Not determined