cacna1sa

Ensembl ID:
ENSDARG00000029457
ZFIN ID:
ZDB-GENE-090514-1
Description:
calcium channel, voltage-dependent, L type, alpha 1S subunit, a [Source:RefSeq peptide;Acc:NP_00113
Human Orthologue:
CACNA1S
Human Description:
calcium channel, voltage-dependent, L type, alpha 1S subunit [Source:HGNC Symbol;Acc:1397]
Mouse Orthologue:
Cacna1s
Mouse Description:
calcium channel, voltage-dependent, L type, alpha 1S subunit Gene [Source:MGI Symbol;Acc:MGI:88294]

Alleles

There are 7 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa3185 Nonsense F2 line generated During 2016
sa5687 Nonsense F2 line generated During 2016
sa43740 Nonsense Mutation detected in F1 DNA During 2016
sa37395 Essential Splice Site Mutation detected in F1 DNA During 2016
sa43739 Essential Splice Site Mutation detected in F1 DNA During 2016
sa8800 Nonsense Mutation detected in F1 DNA During 2016
sa19275 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa3185
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 2016.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105895 Nonsense 179 1777 4 44
ENSDART00000134532   None 1439 None 37
ENSDART00000105895 Nonsense 179 1777 4 44
ENSDART00000134532   None 1439 None 37
Genomic Location (Zv9):
Chromosome 22 (position 936613)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 939525
KASP Assay ID:
554-3158.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CGCCGGTGGAGCAGAAGGGRGGATTCGACATGAAGGCGCTGCGAGCGTTC[A/T]GAGTGCTGCGGCCCCTGCGCCTCGTTTCCGGGGTCCCCAGTCAGTGACAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5687
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 2016.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105895 Nonsense 179 1777 4 44
ENSDART00000134532   None 1439 None 37
ENSDART00000105895 Nonsense 179 1777 4 44
ENSDART00000134532   None 1439 None 37
Genomic Location (Zv9):
Chromosome 22 (position 936613)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 939525
KASP Assay ID:
554-3158.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CGCCGGTGGAGCAGAAGGGRGGATTCGACATGAAGGCGCTGCGAGCGTTC[A/T]GAGTGCTGCGGCCCCTGCGCCTCGTTTCCGGGGTCCCCAGTCAGTGACAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43740
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
ENSDART00000105895 Nonsense 269 1777 6 44
ENSDART00000134532 Nonsense 28 1439 1 37
Genomic Location (Zv9):
Chromosome 22 (position 934276)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 937188
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGGCAGCTCCCTGTGCTCAGGCCGGTAATGGCAGGCGATGCACTCTGAAC[G/T]GAACTGAATGCCGAGGTGATTGGCCCGGACCAAATAATGGCATCACTCAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37395
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
ENSDART00000105895 Essential Splice Site 981 1777 24 44
ENSDART00000134532 Essential Splice Site 740 1439 19 37
Genomic Location (Zv9):
Chromosome 22 (position 915318)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 918230
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CACAATGTTAAAGTCTCCAAATCATTCTCCTGTGCTTTGGTGACGCTCTC[A/C]GGGGAACGTTTATTCAACATCAGGAGAACGCTCTTCATGATATGGTGGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43739
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 > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105895 Essential Splice Site 1497 1777 37 44
ENSDART00000134532 Essential Splice Site 1256 1439 32 37
Genomic Location (Zv9):
Chromosome 22 (position 901453)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 904365
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CGCCACACTCTTCGCTCTGGTCAGAACGGGACTGAAGATTAAAACTGAAG[G/A]TTTGAGGTCACATTTAATTATTTTAATTAAATTCACATTTAACTAATATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8800
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105895 Nonsense 1649 1777 42 44
ENSDART00000134532 Nonsense 1408 1439 37 37
ENSDART00000105895 Nonsense 1649 1777 42 44
ENSDART00000134532 Nonsense 1408 1439 37 37
Genomic Location (Zv9):
Chromosome 22 (position 899148)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 902060
KASP Assay ID:
2261-6206.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GAAACCRGTTATCCCATGCCTACTCACAGGTGACCAGCCAGAGACCCCTA[C/T]AGCTCGCAGAYAGCAGARCGGAMAGGASGGAGACCACATACGCCAGTTAY
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19275
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105895 Nonsense 1649 1777 42 44
ENSDART00000134532 Nonsense 1408 1439 37 37
ENSDART00000105895 Nonsense 1649 1777 42 44
ENSDART00000134532 Nonsense 1408 1439 37 37
Genomic Location (Zv9):
Chromosome 22 (position 899148)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 902060
KASP Assay ID:
2261-6206.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GAAACCGGTTATCCCATGCCTACTCACAGGTGACCAGCCAGAGACCCCTA[C/T]AGCTCGCAGATAGCAGAGCGGACAGGACGGAGACCACATACGCCAGTTAC
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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