Busch Lab

ZMP

mybpc1

Ensembl ID:
ENSDARG00000045560
ZFIN ID:
ZDB-GENE-041114-196
Description:
myosin-binding protein C, slow-type [Source:RefSeq peptide;Acc:NP_001007323]
Human Orthologue:
MYBPC1
Human Description:
myosin binding protein C, slow type [Source:HGNC Symbol;Acc:7549]
Mouse Orthologue:
Mybpc1
Mouse Description:
myosin binding protein C, slow-type Gene [Source:MGI Symbol;Acc:MGI:1336213]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa153 Nonsense Available for shipment Available now
sa20253 Essential Splice Site Available for shipment Available now
sa8977 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa153
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:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024775 Nonsense 43 1169 5 29
ENSDART00000066996 Nonsense 43 1168 5 31
ENSDART00000134080 Nonsense 43 1147 5 29
ENSDART00000141680 None None 105 None 3

The following transcripts of ENSDARG00000045560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 4 (position 16836209)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 17779049
GRCz11 4 17768025
KASP Assay ID:
554-0015.1 (used for ordering genotyping assays)
KASP Sequence:
TTGAAGAATGTATGAGTGTGATGAGTGTGTTCTTTCTAATTGGTCAGTGT[G/A]GTCTCTTGGGGACGGACAACCTCCTGAGGAAATCGACAAACAGACTGAAA
Long Flanking Sequence:
ATATGTTAACCGATTCTCTCTTTTCCCTCTTAAAGGTCATTGTTCAGTGTCTTTATGCTTTCCATGTTGCTTTGTGGCAGCAGTGTTTGATGACCATGTGCCATTGTGTGTTTGTTGAGTAATTATGTGTGTGTGTGTTTCAGTTCAGGCAAATGTATGAGTGGATTCATGGATTTAAAAGACTTCATAATAACTTTCATTATATGATGGACATTAATATGAATATATTTTAATGATCTACTTAGTAATATAATAAAATATGCTCATGAAAATGAAAGTTATTCTAAAGTTTTGAAGAATGTATGAGTGGATTTATGGATTTAAAAGACTTTATAATAACTTTCATAACATGAGTATAAATAATTATGGGCATTTATATGAATATATTCTAATGATCTATTTAGTAATATGATAAAATATGCTCATGAAAATGAAAGTTATTCTAAAGTTTTGAAGAATGTATGAGTGTGATGAGTGTGTTCTTTCTAATTGGTCAGTGT[G/A]GTCTCTTGGGGACGGACAACCTCCTGAGGAAATCGACAAACAGACTGAAAACCCACCCCTTTCCACTCTGTTGATTGAAAAGCCACAGAGCGGCTCCATCACTGTAGGTCAGTAAATGCAGCACTGAAAATATTTTGATGTTTTCTTTACACGTTTTCTTGGCCCTAAGTAACTTTGAACCTACATGTCAACTGTGTATATAACTGTGTAATACTCTCATGTAAATATGAACCAAACTCTCTGAGGAACATTTCCAGCATACCTGTTTGATATATGCAACAAATAATTAATGTAGTTCTGGAGAAAAACTTGAGTACCATTAAAACCTAATAAGGTGGCCAATGAGTGTAGTGGACATGTTGCAAAATTACTTACAGTCAACAATCAAAATGAAGTATAACCACAATATCTTGTGCACATTTTGAAGTTCTCGAAATATCTGCTGTATGAAAGGTGGAGACATCACATTTATTGCTAAGGTGGAAGCCAAAGACTTGCTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20253
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024775 Essential Splice Site 832 1169 23 29
ENSDART00000066996 Essential Splice Site 831 1168 25 31
ENSDART00000134080 Essential Splice Site 825 1147 23 29
ENSDART00000141680 None None 105 None 3

The following transcripts of ENSDARG00000045560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 4 (position 16810958)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 17753798
GRCz11 4 17742774
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GACAGATAGAGGTTAAAGGGAAGTTGCTGTAATGCCCTTGTTTGTTTGCC[A/T]GAGCCTCCTAAGATTCGCATACCTCGACACTTGAAGCAGACGTACATTCG
Long Flanking Sequence:
AGCTGTTCAGGACTAATTACAAAGACTATATACACCTCTTAAACGCACACATTGCTGAGTCTTGTTCACTGAACTGTGAACATTACGACGCGTTTTCCTAGTTTTGTCTTGCCATGTTAGATCCTAGCTTTGTTTTGTTTGTTTATTCCTGTTTGCTGCTTGCCTTTTTGAACATCTGCCTGTTTATCCACCACAACTCTGTTGACCATTGCTTGCCTGACCATCCTGCTAATAAATTCTGCATTTGGATCCTCACACCCCTGTTGTTAGCATCCACTTCACAATACACTAGTAATGGTTGAGTTTATTTGTACCATTTGGTTTTATCACATTGCTAGCATGTTGGTAATAAAGGCTTTACTCACGTTTTTTCTTACTGGTAGCAATTTTTAGAACTTTGATATCACGGTTCAAAAGACCACTTCTGACTGACTGACAAACAGACAGACAGACAGATAGAGGTTAAAGGGAAGTTGCTGTAATGCCCTTGTTTGTTTGCC[A/T]GAGCCTCCTAAGATTCGCATACCTCGACACTTGAAGCAGACGTACATTCGAAAGGTTGGCGAAGTTGTCAACCTCGTTGTGCCATTTGTGGTGAGGCAATAAATCATGATTACACACCACAAACTTATCTGATTTATTCTTGCAGGTCACAATAAAAATATTATTCATCTTTTTAGGGCAAACCAAGGCCGAAAGTCACCTGGTTGAAAGAGGGACAGCCGATTGATCCCACCATCAGCATTCGCAACTCTGATTGTGACAGCATTATGTTCATCCGCAAGGCTGAGCGCAAGCATTCTGGGAAATATGAACTGAGCGTACAAGTGGAAAACCACATCGACACAGCCATGCTAGACATCCAGATAGTCGGTTAGTACAGAAAAATCCCCCCAAAATGTGTGCAATACTGACAGTGCTATCTTACTACAATAATTGATATGCTATTTTGAATTAGCTTCCCTATTCTGATATATACATATACAGTGCTCAGCATATAATGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8977
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000024775 Nonsense 848 1169 23 29
ENSDART00000066996 Nonsense 847 1168 25 31
ENSDART00000134080 Nonsense 841 1147 23 29
ENSDART00000141680 None None 105 None 3

The following transcripts of ENSDARG00000045560 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 4 (position 16810909)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 17753749
GRCz11 4 17742725
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CAGAGCCWCCTAAGATTCGCATACCTCGACACTTGAAGCAGACGTACATT[C/T]GAAAGGTTGGCGAAGTTGTCAACCTCGTTGTGCCATTTGTGGTGAGGCAA
Long Flanking Sequence:
CATTGCTGAGTCTTGTTCACTGAACTGTGAACATTACGACGCGTTTTCCTAGTTTTGTCTTGCCATGTTAGATCCTAGCTTTGTTTTGTTTGTTTATTCCTGTTTGCTGCTTGCCTTTTTGAACATCTGCCTGTTTATCCACCACAACTCTGTTGACCATTGCTTGCCTGACCATCCTGCTAATAAATTCTGCATTTGGATCCTCACACCCCTGTTGTTAGCATCCACTTCACAATACACTAGTAATGGTTGAGTTTATTTGTACCATTTGGTTTTATCACATTGCTAGCATGTTGGTAATAAAGGCTTTACTCACGTTTTTTCTTACTGGTAGCAATTTTTAGAACTTTGATATCACGGTTCAAAAGACCACTTCTGACTGACTGACAAACAGACAGACAGACAGATAGAGGTTAAAGGGAAGTTGCTGTAATGCCCTTGTTTGTTTGCCAGAGCCTCCTAAGATTCGCATACCTCGACACTTGAAGCAGACGTACATT[C/T]GAAAGGTTGGCGAAGTTGTCAACCTCGTTGTGCCATTTGTGGTGAGGCAATAAATCATGATTACACACCACAAACTTATCTGATTTATTCTTGCAGGTCACAATAAAAATATTATTCATCTTTTTAGGGCAAACCAAGGCCGAAAGTCACCTGGTTGAAAGAGGGACAGCCGATTGATCCCACCATCAGCATTCGCAACTCTGATTGTGACAGCATTATGTTCATCCGCAAGGCTGAGCGCAAGCATTCTGGGAAATATGAACTGAGCGTACAAGTGGAAAACCACATCGACACAGCCATGCTAGACATCCAGATAGTCGGTTAGTACAGAAAAATCCCCCCAAAATGTGTGCAATACTGACAGTGCTATCTTACTACAATAATTGATATGCTATTTTGAATTAGCTTCCCTATTCTGATATATACATATACAGTGCTCAGCATATAATGAGTACACCCACTTTTAAACAAAACCATTTTATTAAACAGTCAAATTCAAT
Associated Phenotype:
Not determined