myo5ab

Ensembl ID:
ENSDARG00000025218
ZFIN ID:
ZDB-GENE-050411-72
Human Orthologue:
MYO5A
Human Description:
myosin VA (heavy chain 12, myoxin) [Source:HGNC Symbol;Acc:7602]
Mouse Orthologue:
Myo5a
Mouse Description:
myosin VA Gene [Source:MGI Symbol;Acc:MGI:105976]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa24605 Essential Splice Site Mutation detected in F1 DNA During 2014
sa9541 Nonsense Available for shipment Available now
sa24604 Essential Splice Site Mutation detected in F1 DNA During 2014
sa3305 Nonsense F2 line generated During 2014

Mutation Details

Allele Name:
sa24605
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 2014.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000058337 Essential Splice Site 279 1395 7 32
Genomic Location:
Chromosome 25 (position 7903622)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCAGCTCTGTGCCTGCGCTCATTTACCTGAATTTAAACCTCTAAAGTTAG[G/A]TAAGTGCGCAGTCTACAGTGTGCGTCTTTATTTGACTGATTACAGATGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9541
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000058337 Nonsense 393 1395 10 32
Genomic Location:
Chromosome 25 (position 7901509)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GYCATAAAAAGCTGAAAACGGCCACGGAAACCCTWAATAAACCTGTRACC[C/T]GACTGGAAGCTGTGAACGGTCGRGACGCTCTTGCAAAGCACATTTACGCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24604
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 2014.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000058337 Essential Splice Site 930 1395 21 32
Genomic Location:
Chromosome 25 (position 7891213)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATGGCATGGAAAACAAGATCATGCAGCTGCAGAGGAAACTAGATGAGCAG[G/A]TCTCCTTTTTTCCATTTTGGAGTTTGTACTGATTTCTAAAGAGGAGTCCG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa3305
Current Status:
F2 line generated
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 2014.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000058337 Nonsense 1241 1395 28 32
Genomic Location:
Chromosome 25 (position 7885503)
KASP Assay ID:
554-3026.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACTCCACCAATGAGGAGCTGGAGGTGCGGAAGGAGGAAGTGCTCATTTTA[C/T]GATCTCAACTAGTCAGCCATGAGGCCTTCAAACACAAGGTATTATGCCAA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/5jz9gz2c