Busch Lab

ZMP

mybpc3

Ensembl ID:
ENSDARG00000011615
ZFIN ID:
ZDB-GENE-070112-2362
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.
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

This allele has been removed from public view.

Allele Name:
sa26979
Status:
Less stringent filtering
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
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 235 371 6 11
ENSDART00000099789 None None 524 None 10
ENSDART00000122506 Essential Splice Site 235 363 6 10
ENSDART00000138491 None None 204 None 3
ENSDART00000139899 Essential Splice Site 235 1276 6 30
ENSDART00000144679 None None 122 None 4
Genomic Location (Zv9):
Chromosome 7 (position 33182603)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 31576943
GRCz11 7 31848093
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGTGAAATCAAAAATAAGTGACAAACTTTTTTCTAATTTTTTTTGTATTC[A/C]GGTGTACACATTTGAGATGCATATCATTGCAGCTAAAGCCAACTTTGCCG
Long Flanking Sequence:
GTCACTATACTTTATATTTGACATCGCAAAGTTTTAAATTCTCAGATGAATTTCAAACCTGTTTTGCTATTTGTTTTTAAGCTCTGCCTGAGAGTCATCAGCCTGACACAAGGCAGGACCTTACAGGACTCTTCACTGAGAAACCTCACAGCGGGGAGGTGAATGTTGGTGAGTGACAGTCCATCTAGAAACTGAAAGTGAATACAAATGGAAAAACTTACAATCTTTTCTTCCCATTTAGGTGAAAACATTATTTTCATTGCTCGGGTGTGTGGTGAGTCTCTGCTGAAGAAGCCCACGGTGAAATGGTTCAAAGGAAAGTGGATGGATCTGGCCAGCAAGTCAGGAAAGCACCTGCAGCTCAAAGAGCACTATGACCGCAACACTAAGGTCTGACCACAGGAAAACAGATTTAAACTAAACTATTATATTTCCTCAATATCTTCAGAACGTGAAATCAAAAATAAGTGACAAACTTTTTTCTAATTTTTTTTGTATTC[A/C]GGTGTACACATTTGAGATGCATATCATTGCAGCTAAAGCCAACTTTGCCGGAGCCTATCGCTGTGAGGTGTCATCTAGAGACAAGTTTGACAGCTGTAATTTTGACCTCATAGTACATGGTAAGACTCAGATCATAGGCCTGACAAAATGTATACAAGAATATGCATGTTTGATATATAGCCATACAGAATGTGTTCATTTACTAGTAAAGCAAAATTAGATCTGAAAGAGAGTCTTGTTTTCTGTTAAATAATTCAATCAAAACCAAATAACTTCCAAATGGAAAAGTGTTTTTATATATTGCAGTGTTGTAAACGTCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC
Associated Phenotype:
Not determined

Mutation Details

This allele has been removed from public view.

Allele Name:
sa26980
Status:
Less stringent filtering
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000099785 Nonsense 361 371 11 11
ENSDART00000099789 None None 524 None 10
ENSDART00000122506 Nonsense 362 363 10 10
ENSDART00000138491 None None 204 None 3
ENSDART00000139899 Nonsense 352 1276 9 30
ENSDART00000144679 None None 122 None 4
Genomic Location (Zv9):
Chromosome 7 (position 33192577)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 31586917
GRCz11 7 31858067
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAAGATCGCCTTCCAGTATGGCATCACAGACCTGCGGGGGATGCTTAAG[A/T]GACTCAAAAAAATGAAAAAGGAAGAAAAGAAAAGTGCAGGTTTGGAGTAA
Long Flanking Sequence:
AGCAAATACCAATGCCATGTCGAAGTACAGCAAGGAGGATAATGACAAACTACTTTATTCAATGTAACTCCTAATACAAACTTTCTGTTACATAAATACAAGGTAAGCTAGGGTAGAAAGGGAATAAGGAAGGAGTGAATATCAAAAGAGATACAGTTTTACAAATAAATAAAAGTAAAACAATTAAAACAAAAAAAGCAAAGTTAAAATCATACAGGTTTGATAAAACATAGGAATGAATAAATGATCCTTATTTAATTTTTTTGCTAAATTCTTCCTTTAGCCAACTTAGCACATTGTGAACTCAGTGTTACCTGTCTTGATTAATCAGACATTGTGATAACTGTCCTTATCAGTTTCCATCTTCTGTTTGCAGAGCTGTTCATGTGAGCACAGAGCCAGACGTAGATGTATGGGATATCCTTCAGAAAGCTCCTCCATCAGAGTATGAAAAGATCGCCTTCCAGTATGGCATCACAGACCTGCGGGGGATGCTTAAG[A/T]GACTCAAAAAAATGAAAAAGGAAGAAAAGAAAAGTGCAGGTTTGGAGTAACTTGTTAAGTGCAAACGTAATCCATTACAATATTTAACATTTCATATCAAGTCATTTATGAATTGGGCTGAGTGAAAGACTATATAGAGAAATTATGCATAGTTTGCTCTCTTACCTTCAGGTGCTTTATAGCTTTAAATCGATCTGTCTAATATACGACATCAAACGTTAATATGTTATATGCTCATGTAAATGTCTCTTTCTCCAAACACTCTTCAAAAGTGTTTCCAACATACTACCCAGATTTCTTTTTTTGTTCCAGTCTCTCCCAGTAAATGTGCCTGTCTCAGAATTTAATTCGTTAGATAAAATATTTGGAAAATTCATATGGCAGAAAAAGAAAGCTAGGATAAAATATAAAACATTGCTTTTATCAAAAGATAAAGGAGGTTTATGCTTACCAAATCTAAAATATTACTACTGGGCAGCTCAATTAACCGCAATAGTAGC
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.
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.
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