Busch Lab

ZMP

acta1a

Ensembl ID:
ENSDARG00000036371
ZFIN ID:
ZDB-GENE-050417-267
Description:
actin, alpha 1a, skeletal muscle [Source:RefSeq peptide;Acc:NP_001017750]
Human Orthologue:
ACTA1
Human Description:
actin, alpha 1, skeletal muscle [Source:HGNC Symbol;Acc:129]
Mouse Orthologue:
Acta1
Mouse Description:
actin, alpha 1, skeletal muscle Gene [Source:MGI Symbol;Acc:MGI:87902]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa19610 Essential Splice Site Available for shipment Available now
sa9336 Nonsense Mutation detected in F1 DNA Not yet available
sa18713 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa19610
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000052838 Essential Splice Site 269 377 5 7

The following transcripts of ENSDARG00000036371 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 54517165)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 53290668
GRCz11 1 53950411
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAATGAGCGTTTCCGTTGCCCTGAGACCCTCTTCCAGCCTTCCTTCATTG[G/A]TATGTTGTCTGAAAACATCGAACGTCATCAGTTGCCTTGCGTTTTAGGCC
Long Flanking Sequence:
GGTGTGACCCACAATGTGCCTATCTATGAGGGTTACGCTCTTCCTCATGCCATCATGCGTTTGGACTTGGCTGGTCGTGATCTGACAGACTACCTGATGAAGATCCTGACTGAGCGTGGATACTCTTTCGTCACAACTGGTGTGTGTCTCCACATTTTTACTGCTATTTGAGCCATTTGCTTGCAATGAACCAATTTTTAAGATCTGTGTAGATTCCATGTGGGCCTAGATATAACAACCAAACAATCTGTGCATCGGTGTGTTTAGCCTGCCGATAACCAAAAATTGTCATTCATTGTCTAAAACAGCTGAGCGTGAGATTGTCCGTGACATCAAGGAGAAGCTGTGCTATGTTGCCCTGGACTTTGAGAATGAGATGGCCACAGCCGCCTCCTCATCCTCCCTCGAAAAGAGCTACGAGCTTCCTGACGGTCAGGTCATCACCATTGGTAATGAGCGTTTCCGTTGCCCTGAGACCCTCTTCCAGCCTTCCTTCATTG[G/A]TATGTTGTCTGAAAACATCGAACGTCATCAGTTGCCTTGCGTTTTAGGCCTGTACACTGAAAAAAATCATTCAAAGATGATTCCTTGGATTTACTCAATTTTTTTACGTTAAGTTGTTGTAAACAATTTATTTGCGCTGAATTTAAACAAACAAATTAAGTTGAACATTATTAAACTTAATTTGTTTGTTTAAATTCAACACAAATAAATTGTTTGCAACAGTTTTGCATGCAACACTTTTTTCAGTGTAAGTAACCATTTGCTGTTCTCAAATCACAGGTATGGAGTCTGCTGGCATTCACGAGACCACTTACAACAGCATCATGAAGTGCGACATTGACATCAGAAAGGACCTTTACGCCAACAATGTACTCTCCGGTGGTACCACGATGTACCCTGGTATTGCTGACCGCATGCAGAAGGAAATCACAGCTTTGGCTCCAAGCACAATGAAGATTAAGGTAACAGAGACGTGAAATAGTAGAGATTAGAACAGGGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9336
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000052838 Nonsense 322 377 6 7
ENSDART00000052838 Nonsense 322 377 6 7

The following transcripts of ENSDARG00000036371 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 54517601)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 53291104
GRCz11 1 53950847
KASP Assay ID:
2259-1198.1 (used for ordering genotyping assays)
KASP Sequence:
CACGATGTACCCTGGTATTGCTGACCGCATGCAGAAGGAAATCACAGCTT[T/A]GGCTCCAAGCACAATGAAGATWAAGGTAACAGAGAMGTGAWATAGTAGAG
Long Flanking Sequence:
GTCATCACCATTGGTAATGAGCGTTTCCGTTGCCCTGAGACCCTCTTCCAGCCTTCCTTCATTGGTATGTTGTCTGAAAACATCGAACGTCATCAGTTGCCTTGCGTTTTAGGCCTGTACACTGAAAAAAATCATTCAAAGATGATTCCTTGGATTTACTCAATTTTTTTACGTTAAGTTGTTGTAAACAATTTATTTGCGCTGAATTTAAACAAACAAATTAAGTTGAACATTATTAAACTTAATTTGTTTGTTTAAATTCAACACAAATAAATTGTTTGCAACAGTTTTGCATGCAACACTTTTTTCAGTGTAAGTAACCATTTGCTGTTCTCAAATCACAGGTATGGAGTCTGCTGGCATTCACGAGACCACTTACAACAGCATCATGAAGTGCGACATTGACATCAGAAAGGACCTTTACGCCAACAATGTACTCTCCGGTGGTACCACGATGTACCCTGGTATTGCTGACCGCATGCAGAAGGAAATCACAGCTT[T/A]GGCTCCAAGCACAATGAAGATTAAGGTAACAGAGACGTGAAATAGTAGAGATTAGAACAGGGAAGTGTGCTTTCAAAGTAAAGGCTGATTTATACTTCTGCGTCAAACACCGGCGTATGCTACGGCGCTGACGCATAGCCCTTCGACGTGGCCATCGGCGTCGCTGACGTGCACCTTTCAAAAAATGTAACTACACGTCGCAACGACGCGTATCGCAAGCTCTGTGATTGGTCGGCTTGGTAGCACTGACGAGTCTGGGCGGGACCGAGAGCCGCGCGAATGGCGCGAGCGATTGTTTACCAGTGTGGAGTCCCGTGAAGGAGCTCCGGATGGAAAGTTTTGTTTTGTGTTTACCTCATAGTTAAAGTTGTACATCCAGGAAGTGTTCAGGAAAAGCAAAACAAAAGCGAAGAAACTCGACACAGAGGAACATTTACACCTCACTGCCAACTAGCGTTTTGGAAATGTTAATGCAGACCAACAGAGACAGCGCGCAGAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18713
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000052838 Nonsense 322 377 6 7
ENSDART00000052838 Nonsense 322 377 6 7

The following transcripts of ENSDARG00000036371 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 54517601)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 53291104
GRCz11 1 53950847
KASP Assay ID:
2259-1198.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACGATGTACCCTGGTATTGCTGACCGCATGCAGAAGGAAATCACAGCTT[T/A]GGCTCCAAGCACAATGAAGATTAAGGTAACAGAGACGTGAAATAGTAGAG
Long Flanking Sequence:
GTCATCACCATTGGTAATGAGCGTTTCCGTTGCCCTGAGACCCTCTTCCAGCCTTCCTTCATTGGTATGTTGTCTGAAAACATCGAACGTCATCAGTTGCCTTGCGTTTTAGGCCTGTACACTGAAAAAAATCATTCAAAGATGATTCCTTGGATTTACTCAATTTTTTTACGTTAAGTTGTTGTAAACAATTTATTTGCGCTGAATTTAAACAAACAAATTAAGTTGAACATTATTAAACTTAATTTGTTTGTTTAAATTCAACACAAATAAATTGTTTGCAACAGTTTTGCATGCAACACTTTTTTCAGTGTAAGTAACCATTTGCTGTTCTCAAATCACAGGTATGGAGTCTGCTGGCATTCACGAGACCACTTACAACAGCATCATGAAGTGCGACATTGACATCAGAAAGGACCTTTACGCCAACAATGTACTCTCCGGTGGTACCACGATGTACCCTGGTATTGCTGACCGCATGCAGAAGGAAATCACAGCTT[T/A]GGCTCCAAGCACAATGAAGATTAAGGTAACAGAGACGTGAAATAGTAGAGATTAGAACAGGGAAGTGTGCTTTCAAAGTAAAGGCTGATTTATACTTCTGCGTCAAACACCGGCGTATGCTACGGCGCTGACGCATAGCCCTTCGACGTGGCCATCGGCGTCGCTGACGTGCACCTTTCAAAAAATGTAACTACACGTCGCAACGACGCGTATCGCAAGCTCTGTGATTGGTCGGCTTGGTAGCACTGACGAGTCTGGGCGGGACCGAGAGCCGCGCGAATGGCGCGAGCGATTGTTTACCAGTGTGGAGTCCCGTGAAGGAGCTCCGGATGGAAAGTTTTGTTTTGTGTTTACCTCATAGTTAAAGTTGTACATCCAGGAAGTGTTCAGGAAAAGCAAAACAAAAGCGAAGAAACTCGACACAGAGGAACATTTACACCTCACTGCCAACTAGCGTTTTGGAAATGTTAATGCAGACCAACAGAGACAGCGCGCAGAAG
Associated Phenotype:
Not determined