Busch Lab

ZMP

si:ch211-201p7.4

Ensembl ID:
ENSDARG00000092936
ZFIN ID:
ZDB-GENE-090312-128
Human Orthologue:
CACNA1H
Human Description:
calcium channel, voltage-dependent, T type, alpha 1H subunit [Source:HGNC Symbol;Acc:1395]
Mouse Orthologue:
Cacna1h
Mouse Description:
calcium channel, voltage-dependent, T type, alpha 1H subunit Gene [Source:MGI Symbol;Acc:MGI:1928842

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa15566 Nonsense Available for shipment Available now
sa1668 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa15566
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
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000132539 None None 717 None 17
ENSDART00000133407 None None 204 None 4
ENSDART00000137417 Nonsense 117 208 2 3

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 7410208)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 7650013
GRCz11 1 8334124
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAGGGATGGGCGGATATCATGTATTATGTCATGGATGCTCATTCCTTTTA[C/A]AACTTCATCTATTTCATCTTCCTTATCATCGTAAGTGCACARTAATTAAT
Long Flanking Sequence:
GGTGAAAACAATCAGGATAATGACGTCTAAATAAGAGGGCGTGGTAACTGAAGACAAAGAGGAAAGACAAGTGGAGTACATGACAAGCAAAAGACGAACAGGGAAACATTAAACACTGATAGGACAGACAAGACTATCAGATCAGGACCCTGACAGTTTATCATTCTGTTTAGAGCATCAACATTTAAAAAAAAAGTGCTCATTTAGAAGAATAGCATACACAGTTCACATGTCTGCAAGTATTACAAAAAAGAGTTTTAGATAAGTAACACGCGGGCCTCCTCTCTTCAACCTATTATAAACATGTTTCCTGACATAGTTTTGGGAAACTGATGAACAATCTGTGAAGAAGTCCTTTGTTTTTGGCACTTTATTGAAAGGCTTTGTTTGCTTGATGACTGTTGTAGCCTTTATGATGGTGTTTGTGTTTCTCCTCAGGTCATCACGTTAGAGGGATGGGCGGATATCATGTATTATGTCATGGATGCTCATTCCTTTTA[C/A]AACTTCATCTATTTCATCTTCCTTATCATCGTAAGTGCACAGTAATTAATTAACTGACACGTCTTCCTCTCTTTTAACCTCTGCTGGAGTCTGTGCTTTCATTAGTTGCATGGAAATGGCTTTTGCTATCATCAGGGGTGTAAATTACCACAGTCGTTTTACTTGATAACTATACTTAAAGAGATGAAAATTAAAATTCTGCCACGGTTTTTAGAGAATTTGAGATTGAGAGCTGCGGAAACTTGTTTCCATGGTGATTGCTTGTTCTAAGGGGGAAAGTTGAATTTTATTACACCATTCAATCTTAGACCTTCTTATTTAACTTTCATCAATGTGTAAATATCCGTCTATCTAAATGTGTAATACAAATCACACAATTTTTTTTGATAAATCGATCAAAGAAAGATGAAGGTCAATCAAAGTGCACTGCTGCATCCAAGTTCGCATACTATCCTTCCTGTTTTAGTTTATTTATTTAGCAGTCTGCACCGATAGCCTAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1668
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
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000132539 Nonsense 520 717 14 17
ENSDART00000133407 None None 204 None 4
ENSDART00000137417 None None 208 None 3

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 7472160)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 7711965
GRCz11 1 8396076
KASP Assay ID:
554-1615.1 (used for ordering genotyping assays)
KASP Sequence:
ATTCATTAACTTTGATTCAGATTGCACTGAGGAGAACCCCTGTGAGGGTT[T/A]GAGCAGACATGCCACATTTCAGAACTTCGGCATGGCTTTCCTTACTCTCT
Long Flanking Sequence:
ACCTGGTTAAGCTTTTAAAATCACTTTAAGCTGTATAGAAGTGTCTTGATAAATATCTAGTCAAATATTATTTACTGTCATCATGACAAAGATAAAATCAATCAGTTATTAGAAATGAGTTATTAAAACTATTATAGTTAGAAATGTGTTGACAAAATCTTCTCTCTATTAAACAGAAATTGGGGGAAAAAATAAACAGGGGGGTAATAATTCAGGGGGGCTAATAATTCAGGGGGGCTAATAATTCTGACTTTAACTGTATATAAAATAAAGTGCAGAATATATATTTATTTAAAACAGTGCGGTAATTAAATGAAACATTTTAGAAAAACTCAAATGGATTTTATAGGCATTAAATAAATTTAATGCATTTTTACATCAATATATAAGTGCTTTATATTGTATAGTGTAGTTATTTTTTGCGCAGTGTTTTGAGATATGAATTATTAAATTCATTAACTTTGATTCAGATTGCACTGAGGAGAACCCCTGTGAGGGTT[T/A]GAGCAGACATGCCACATTTCAGAACTTCGGCATGGCTTTCCTTACTCTCTTCCGTGTTTCCACCGGAGACAACTGGAACGGCATCATGAAGGTATTTGCCAAATTGTGACATCACTCATCCTGCATCTTACAAATTAGACCAACACAGGCTTATTGTAAATATGTGCCCCTGTCTACATTTCTGGACACTGCAAATGATGTAGCCAAAGGTATGTCTGGCTGCATTTCATCTTTCAAACGAATGCTACGGCATAGTATGATGCCACATTCAGATTCTGTTCATTTTAGCTCTACCAGCTGACCATTTTCCTCTGTATGAACGGCTTTTCTGGTGCTACCAGTTTGCCCAGTAGCTCGCTCCATACATCTTCAGACTTGGAATGCACAGCAGAGTTGACCACGACGATGGGGTTCAAATCAGGCAAAGAACAGTTCCAGAAACAAGGTAAAACAAAAGCAAAAAATAAATAGATACAAACAACAGACTGAAAACGTGGTGA
Associated Phenotype:
Normal
Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037
whole organism
ZFA:0001094
quality
PATO:0000001
normal
PATO:0000461