ZMP

actn3a

Ensembl ID:

ENSDARG00000013755

ZFIN ID:

ZDB-GENE-000329-9

Description:

actinin alpha 3a [Source:RefSeq peptide;Acc:NP_571597]

Mouse Orthologue:

Actn3

Mouse Description:

actinin alpha 3 Gene [Source:MGI Symbol;Acc:MGI:99678]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa13372	Nonsense	Available for shipment	Available now
sa43661	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa13372

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
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Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000005682	Nonsense	382	896	11	21

Genomic Location (Zv9):

Chromosome 21 (position 26795207)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	27364118
GRCz11	21	27400813

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CCTKGCCTCCCCTTTTGCAGGATATCGCCAATGCTTGGAAGGGTCTGGAG[C/T]AGGTTGAAAAGGGCTATGAGGAGTGGCTGCTTACAGAAATTCGTCGTCTA

Long Flanking Sequence:

GAAGAATACGAGAAACTGGCCAGCGAGGTGAGAATTCTCAAATTCTGTACTGAATGGCTATGCTAGTCTTAGTTCTCTCAGTGATTCTTTATCATTGCACTTTAACTTTCACTCCCACCAAAACTCTTTCTCCTCAGCTTCTGGAGTGGATTCAAAGGACCATTCCCTGGTTAGAGAACCGTGTGGCTGAGCAGACCATGCATGCCATGCAGCAGAAGCTAGAGGATTTTAGGGATTATCGTCGTGTGCATAAGCCACCCAAGGTTCAAGAGAAGTGTCAGCTGGAGATCAACTTCAACACCCTACAGACCAAGCTAAGGCTCAGCAACAGGCCTGCCTTCATGCCTTCCGAGGGCAAAATGGTTTCAGTATGTGCTGCTTACTTTCTCTTAAAATGCATATGAGGTAAATGACTCTGGTTTTCAAGTATCCCACACCTGAAAGCATCAACCTTGCCTCCCCTTTTGCAGGATATCGCCAATGCTTGGAAGGGTCTGGAG[C/T]AGGTTGAAAAGGGCTATGAGGAGTGGCTGCTTACAGAAATTCGTCGTCTAGAGAGACTGGACCACCTGGCTGAGAAGTTTAGGCAGAAGTCAACCCTACACCAATCGTGGACCACTGGTATTGTATTCTTGATTTTTCAGTTGCTTTTGTCACTTGAACTCCACTATGAAGGCTGACAAAGGTATTCTCACTGTGTTTTTGTCATGCTTAACACAGGAAAGGAGGAGCTTCTGTCTCAAAAGGACTACGAAACAGCCTCTCTGATGGAGATTCGTGCTTTGATGAGGAAACACGAGGCCTTTGAGAGTGACTTGGCTGCTCACCAGGACAGAGTAGAGCAGATCGCTGCCATTGCACAGGAGCTCAAGTAAGATTTACTTTACTCTTCTAAAATCATGAAAGCGCTTTCTCACAGAGCTTACAGTAATGGTTATGATAATAATCATGACAAAGATGCACTGTACTTTAGTGAATTGGACTTTTATGATGCTGCCACCATC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa43661

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
ENSDART00000005682	Essential Splice Site	721	896	18	21

Genomic Location (Zv9):

Chromosome 21 (position 26797286)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	27366197
GRCz11	21	27402892

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AGATGTTTCACCATTTATATAAGGGATATTTTCAATTTTTGTCTATTTTA[G/A]CATGTCCGTGTGGGATGGGAGCAGCTCCTCACCACCATCGCTCGCACAAT

Long Flanking Sequence:

TTGCAGGAGGAAGTGGCCAGACAGCAGTCCAATGAGAGGCTGAGGCGCCAATTTGCTGCTCAGGCCAATATCATTGGACCTTGGATCCAAACCAAGATGGAGGTGTTTCACCACACTACAATCATACACACTATACTCATACATAGTGTGGAAAAATGGGAAACTGACCTGAAATATCCTTCCTTGCTGTTAACAGGAGATCAGCCATGTGTCTATTGACATTGCTGGTTCCCTTGAAGAACAGATGAGCAATCTTAAAACATATGAACAGAATATCATTAATTACAAATCCAACATTGACAAACTGGAGGGCGACCACCAGCTTAGCCAGGAGGGACTTATCTTTGACAACAAGCACACCAACTACACTATGGAGGTACAGTCTGTTTTCTTTATGAAATTTGTCACTTTATGTTTTATGTGGGATTAGGTAAGGTGTCTCACACAATTAGATGTTTCACCATTTATATAAGGGATATTTTCAATTTTTGTCTATTTTA[G/A]CATGTCCGTGTGGGATGGGAGCAGCTCCTCACCACCATCGCTCGCACAATCAATGAGGTTGAGAACCAGATCCTGACTCGTGATGCCAAGGGCATCAGTCAGGAGCAGCTGAATGAGTTCAGAGCCTCATTCAATCACTTTGACCGGGTTTGCAACAGTTTTTGGTTCTTTCTCTGAAATAGCCACCTCTATGAAACACTGTCCCAAGAATAACCTTCATTTTTTTTTTGTATTTGCAGAAGAGAAATGGCATGATGGATCCCGATGACTTCCGTGCTTGCCTGATTTCTATGGGTTATGATTTGGTGAGGGCATCTAGTCACCAATGCTGTGTAGTAACTAATTATCTGTACATATATACATAATCAGATTCCAAATATTAAGTTCTTGTAATTAGTGTAAACTCTTTTTTTTTAATAATTGTTATCAGAGTACAATTTCTTTTTTATGGATTAAATATTTATATATTTATAATTAAATAATGAATAAATATATTTATA

Associated Phenotype:

Not determined