atp1a1a.4

Ensembl ID:
ENSDARG00000001870
ZFIN ID:
ZDB-GENE-001212-4
Description:
ATPase, Na+/K+ transporting, alpha 1a.4 polypeptide [Source:RefSeq peptide;Acc:NP_571764]
Human Orthologue:
ATP1A1
Human Description:
ATPase, Na+/K+ transporting, alpha 1 polypeptide [Source:HGNC Symbol;Acc:799]
Mouse Orthologue:
Atp1a1
Mouse Description:
ATPase, Na+/K+ transporting, alpha 1 polypeptide Gene [Source:MGI Symbol;Acc:MGI:88105]

Alleles

There are 9 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa32576 Essential Splice Site Mutation detected in F1 DNA During 2016
sa32577 Nonsense Mutation detected in F1 DNA During 2016
sa19396 Nonsense Available for shipment Available now
sa19397 Nonsense Available for shipment Available now
sa17542 Nonsense Available for shipment Available now
sa14454 Nonsense Available for shipment Available now
sa13870 Nonsense Available for shipment Available now
sa14079 Nonsense Available for shipment Available now
sa39529 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa32576
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 2016.
Mutation:
A > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048828 Essential Splice Site 343 1024 9 22

The following transcripts of ENSDARG00000001870 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 1456052)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 1551472
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GATATTTGGATATTTGAGCTAAAATAAATACCTAACATGGAACTTTATGT[A/C]GGTGTGTCTGACTCTCACTGCCAAACGAATGGCAAAGAAGAACTGCCTGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32577
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 2016.
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048828 Nonsense 363 1024 9 22

The following transcripts of ENSDARG00000001870 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 1456114)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 1551534
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTCTCACTGCCAAACGAATGGCAAAGAAGAACTGCCTGGTGAAGAATCTT[G/T]AAGCTGTGGAGACTCTTGGATCAACCTCTACCATTTGCTCTGACAAGACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19396
Current 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:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048828 Nonsense 505 1024 11 22

The following transcripts of ENSDARG00000001870 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 1456708)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 1552128
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCTCTAGCTTTCAATCCACAAGAATCCCAATTCCTCAGAGCCAAAACACT[T/A]GCTTGTGATGAAGGGAGCACCTGAGAGGATCTTGGATCGATGCTCCACCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19397
Current 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:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048828 Nonsense 543 1024 11 22

The following transcripts of ENSDARG00000001870 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 1456823)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 1552243
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAACAGCAGCCCTTAGATGAAGAAATGAAAGATGCTTTTCAGAATGCTTA[T/A]GTTGAACTTGGAGGTCTTGGAGAAAGAGTCCTGGGTAAATTCCCCAAATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17542
Current 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
Order Allele From EZRC
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048828 Nonsense 672 1024 14 22

The following transcripts of ENSDARG00000001870 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 1457650)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 1553070
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGTGTGCCTTTAGAGATGCGAAGGCATGTGTGGTCCATGGAGGAGAACTG[A/T]AAAGTATGAGYGAAGAAGAGCTAGATGATATCCTGAAACACCATACWGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14454
Current 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
Order Allele From EZRC
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048828 Nonsense 822 1024 17 22

The following transcripts of ENSDARG00000001870 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 1459898)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 1555318
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GATTGCAAATGTTAAYTATTGTTTAATGTTTCCTCAGGTTCCTGCGATCT[C/A]KTTGGCCTMTGAAAGTGCWGAAAGTRACATCATGAAGWGACAACCCAGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13870
Current 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
Order Allele From EZRC
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048828 Nonsense 835 1024 17 22
ENSDART00000048828 Nonsense 835 1024 17 22

The following transcripts of ENSDARG00000001870 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 1459936)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 1555356
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTCCTGCGATCTMKTTGGCCTMTGAAAGTGCWGAAAGTRACATCATGAAG[A/T]GACAACCCAGAAATGCTAAAACAGATAAACTGGTGAACGAGAGGCTGATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14079
Current 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
Order Allele From EZRC
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048828 Nonsense 835 1024 17 22
ENSDART00000048828 Nonsense 835 1024 17 22

The following transcripts of ENSDARG00000001870 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 1459936)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 1555356
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTCCTGCGATCTMKTTGGCCTMTGAAAGTGCWGAAAGTRACATCATGAAG[A/T]GACAACCCAGAAATGCTAAAACAGATAAACTGGTGAACGAGAGGCTGATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39529
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 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048828 Nonsense 1002 1024 21 22

The following transcripts of ENSDARG00000001870 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 1462633)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 1558053
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCGTGCTGGTGGTTCTGCGCCTTCCCATATTCACTTCTCATCTTCGTCTA[T/A]GATGAAGCTAGAAGATATATCCTTAGGCGGAGCCCAGGAGGTAATAACAG
Associated Phenotype:
Not determined

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