ZMP
cacnb1
Ensembl ID:
ZFIN ID:
Description:
voltage-dependent L-type calcium channel subunit beta-1 [Source:RefSeq peptide;Acc:NP_001002652]
Human Orthologue:
CACNB1
Human Description:
calcium channel, voltage-dependent, beta 1 subunit [Source:HGNC Symbol;Acc:1401]
Mouse Orthologue:
Cacnb1
Mouse Description:
calcium channel, voltage-dependent, beta 1 subunit Gene [Source:MGI Symbol;Acc:MGI:102522]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa33120 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa8705 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa33120
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
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 |
|---|---|---|---|---|---|
| ENSDART00000012835 | Nonsense | 114 | 520 | 4 | 14 |
| ENSDART00000057159 | Nonsense | 114 | 603 | 4 | 14 |
| ENSDART00000111707 | Nonsense | 114 | 478 | 4 | 13 |
| ENSDART00000123068 | Nonsense | 114 | 642 | 4 | 14 |
| ENSDART00000130611 | Nonsense | 114 | 517 | 4 | 13 |
The following transcripts of ENSDARG00000002167 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 3 (position 15811735)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 16041954 |
| GRCz11 | 3 | 16191754 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTCTGAAGACCAAGCCTGTAGCGTTTGCAGTGAGGACTAACGTTGGCTA[T/A]AACCCAGGCCCTAATGATGATGTGCCTGTTCAGGGCATGGCCATCTCTTT
Long Flanking Sequence:
AAATATTTTTTAACATGTATTTACCACAGCTGTATTATATAAATGACCATGCATGGTTCTTTATCAGATAAAGGGTTTAAAATTGTCGTTTTGTGATACATTTTCATCCTATTCACCACACACTTGGTTGAATGATTGTATTGTAATATATAGTGTTAATTGAGGTTTGCCACAAAAAATATTTCCACTGGGAGATGAATTTGGGAGCGCTAAATCTTTCACCAGTAATATTCCATCCTCTTCACTGTATGTAAGATCACTTCTATGTGTAAACCTGTAAAACCAATGACAATGAGTCTGAGTGTCCTTTCTTTTACCCTGGAGTATTTTGCCATCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTTTTCCTAAGACAGTTCTCCATTAATTCCCTCTGTTTATCTTTCTCATCGACTTCCTCTCTCTGAAGACCAAGCCTGTAGCGTTTGCAGTGAGGACTAACGTTGGCTA[T/A]AACCCAGGCCCTAATGATGATGTGCCTGTTCAGGGCATGGCCATCTCTTTCGAACCCAAAGACTTCCTGCACATCAAAGAGGTCAGACAAGCACACTTACCTTACCTTAAAATGTGTTGAAAGCATTTTGGCTTTCACCTGTAAAATGACAGATGTTCCTGAAGTAATAGTTTAAGAAATCACACTGTTATGACAGCAAAAAAAATAAGTTTGTGATCAATCTTCATTTTATTGCCCAATCAGATGATGTGCTGCACCTCTTAAGTGTTTAATTTGGCTTACATTTCTTTGAAAGGGGGTGTTTTTTTAAACTAATTGGCTACATTTTCAAATATCTTTAATTTGCTTAGTTTGTTTCTGTAATCTGATGTATGATTGAAGCCTTCTTTAATATATTTATAGGTATATTTTCTTATATTGATGGTAAATGTATCTGCTGCTTAAACGTGATTCAAAGGCTGGGTGTTTTCTGTTAACAGAAGTATAATAATGACTGGTGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa8705
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000012835 | Nonsense | 241 | 520 | 7 | 14 |
| ENSDART00000057159 | None | None | 603 | None | 14 |
| ENSDART00000111707 | None | None | 478 | None | 13 |
| ENSDART00000123068 | Nonsense | 241 | 642 | 7 | 14 |
| ENSDART00000130611 | Nonsense | 241 | 517 | 7 | 13 |
The following transcripts of ENSDARG00000002167 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 3 (position 15800732)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 16030951 |
| GRCz11 | 3 | 16180751 |
KASP Assay ID:
2259-3197.1 (used for ordering genotyping assays)
KASP Sequence:
ATGTTGAGGAGGCGGAGACTGCCGACACCCGCGACCATAAGGGTGTGGGC[G/T]GAAGTGTCACCTCCCCTCAAGGCAACCTGCCCCGCCTCCCTTTCTTTAAR
Long Flanking Sequence:
AAATGAGAGACCCATTTCCTCAAGCGAGAATGATGTCGGCTAAAACTTGGTCGTACACCATTGGTACCCTTTTGGCAGTGGAAACGCAAGCCTGATAAAGGTGACCCATACCAACTCGTACAATGTCATACTGTACCACTCAGTGGAAAAGGGCCATTAGTAGTCCATGAAAAAGGTCATTTCTTTTCAGTTTTGCTTGTCCTTCATTTTTATAGCACGTTCTGTGTTCTCTTCATCACCTTTCTGACTCTGCCAAGTCTATACATCATGCTGCTGTTTCTCCTCTCTTCCTCTTCTCTCGTTTTCTGTCCATTACCCCTGTGTCCCTGTTCTATCGCTCCTTCTCTATCTCTCTCTCCTGTTGTATCCTCCCATTAAACCCCGTCTACCTCCCCATGGGTCCCGTAGCTGACTTGTCCTCGGGGCTTTATGACGATGCTTTGGATTCGGATGTTGAGGAGGCGGAGACTGCCGACACCCGCGACCATAAGGGTGTGGGC[G/T]GAAGTGTCACCTCCCCTCAAGGCAACCTGCCCCGCCTCCCTTTCTTTAAGAAGGTAACCTGGAGATGAATGCATCATTAGACGCCAGCCTCCTTCACGAGTGACTAATAATCAGACCCTTCCTAACCCAGCACTTTCTGTGTCTCAATGTGGGTGGTCTTTGCTGTTTGTGGACATTTGTTTGTGCTTAAATTCGCATCTTAGAAATATTAGTTCAATAGGTAAAAAGAAACTCATCATTTACTCACCCTGTGTTTAAGAAAAAGTTATAATTTTTCAATCAATTTTCAGTTTTTTCCTAATATAGGAGACTGAGTGAACAGTTTATTTTTGTTTACTTATTCAAAAATACATTAAAAATAATAATTTGAACAAAACTGATTTAAACATGCATATAATTAGATTTGAGAGTTTCTAAGTGATATATGCAGTGGTTTATGATATATTTAATATATGCATTCTCAGATGTACAGTGGGAGAAAGAAGTATTCAACACGTGAT
Associated Phenotype:
Not determined