Busch Lab

ZMP

si:ch211-255l14.9

Ensembl ID:
ENSDARG00000029590
ZFIN ID:
ZDB-GENE-060503-415
Description:
hypothetical protein LOC569861 [Source:RefSeq peptide;Acc:NP_001116174]
Human Orthologue:
JPH3
Human Description:
junctophilin 3 [Source:HGNC Symbol;Acc:14203]
Mouse Orthologue:
Jph3
Mouse Description:
junctophilin 3 Gene [Source:MGI Symbol;Acc:MGI:1891497]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa12230 Nonsense Available for shipment Available now
sa24624 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa12230
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048614 Nonsense 39 791 1 5
Genomic Location (Zv9):
Chromosome 25 (position 13318395)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 12543822
GRCz11 25 12640327
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAGGCCCATGGCCATGGCATCTGCACAGGACCCAAGGGCCAAGGCGAGTA[T/A]GCGGGCTCCTGGAGTCACGGTTTTGAGGTGGTCGGTATCTATACCTGGCC
Long Flanking Sequence:
TAACAGTAGAACAAGGCGCATGGCTGGCGTGGGCCCACTTTCGTTGAGAAGCAACTGCAGGGAAGCAACTTGTGAATAAAACGCTCCACTCCTAGAAGAGGATGGTCTGAGAGGGCTCAAGCTGCTCCTGCCTTGTTTGACAGGAGGGGACTACTGCCCAAGAGGGCTCGTTCTTTGTTCTTTTAACTTTTTGCATAGTTTTTTAAAATCTTTTTATTTTTTTAAAGACCATCAGAAGAAAGCAGAAGAAAGGGGCGTTTGTATCCCCAGCTTTCTACCACCACCCTGGCTCAATTTCCAAGTATAGTTTTGTTTGGGTATTACTTCTTTTTCTCTTTCTTTTCTTTTTGAGATTTGGGGTATTTGCCAAAACCTATTTCATGCATGTCCACTGGGGGCAGGTTCAACTTTGATGATGGGGGATCATACTGTGGAGGGTGGGAAGAGGGAAAGGCCCATGGCCATGGCATCTGCACAGGACCCAAGGGCCAAGGCGAGTA[T/A]GCGGGCTCCTGGAGTCACGGTTTTGAGGTGGTCGGTATCTATACCTGGCCCAGTGGGAACACTTTTCAGGGGACATGGGCACAAGGCAAGCGGCATGGCATTGGAATTGAAAACAAGGGCAAGTGGGTTTATAAGGGTGAGTGGACACATGGATTTAAGGGACGCTATGGTGTGCGGGAAAGCACAGGAACCAGCGGCAAGTATGAGGGCACGTGGAACAACGGCCTACAGGATGGATATGGAACAGAGACATACTCTGATGGAGGTAAGAGACTAAAGGACTTTTTTGCTAAAGAGTAAGAGCTATAACCATTTACTCACCCTTTTGTCTTTAAAAACCTCTCTGACTTTTTAACTTCAGCACCAAGTATTGTTCTATTTTCTTGTCATACAGGTTTAGAATTTCATAAGGGCAAGTTCTGCTAACTGTACCATCAATGACTAAAACAGATTTCTATAATACCTTATTTTCATTTTTGAACCACTCTTCACTTTTTGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24624
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000048614 Nonsense 602 791 4 5
Genomic Location (Zv9):
Chromosome 25 (position 13269435)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 12592782
GRCz11 25 12689287
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCGGAGCGGCACGGGCCAATGGCCACAAGCACTCTTCTAATCATAAGCCT[C/T]GAGACCACAGTTCCTCCAATCACAAAACCCCAAGGGAAAGACGGCCAGAT
Long Flanking Sequence:
TGTGTCAAGTAGGAGTGGAGTGCCAGCGACCCAAACAGCAGAACTCGAGTGAGAACGACGTGGAAGTTATATCTAGTGGGACTGCAGACAGCACTGAACTCTATATGAAAGGCTCCACACCTCCGGATCTAACCCCGGATGTGAGTCCCACTCCCAGTCGGCCCTCTACGCCTCCACGTAGCCCGACCACCAAATCTTCCCACCGCACCAAAAATGCCCGCTTCTTGCGACAGACTGCAGTGGATGAGGAGCGTGGGGGAACACAAGAGATCCAGGTGCTGATGGAAGGGAGAGGTGGAGGTGGTGGTGGTGGTTCAGGTGGAGGTGGAGATTACCTGAGGGCTAACAGCTGGAGTGAGGAAAAGCGTCCCTCCCGTGGGGGGAGCAGTAGAGGTGGTAGTCGGGGTAGCAGCCGCTCTACAACCCCTTCAGTACAGGACGAGGTACGGGTCGGAGCGGCACGGGCCAATGGCCACAAGCACTCTTCTAATCATAAGCCT[C/T]GAGACCACAGTTCCTCCAATCACAAAACCCCAAGGGAAAGACGGCCAGATGGACCTTCGGCTTCCTGGACGTCTCAGCGGGTACATGGGGACAGTTTGGCTCACTCCCGTCTCCTTGAGCAGGATGAGGAAAAACTGAGCAATTATGAAATGGAGATGAGGCCGTTACAGCCAATGGACTCCCATAACTCCCAGAAGCCCTATGGGCATGGGGAGGAGCGGCATGGTCACTCAGAGACCCGTGCACATATGTTACAGCAACGGGGCAAGAACCGTGATCGGGAGCGGGATGTCCGGGATGCTTCGGGTCACAGGGACACCCGGGAGGGGCCAGCTTTGGACTCAGTGCAAAAATTGGACAGCCTACGAGTGGGGGAAAAGCTAGAGGCTCGGCCCCTCCGCAGGGACCTAACACTCTCACCCCCACAGAAATCCCCACCTATTGCACTAGAGCACGATGACGAGAATCAGTCTCAGCTCAAAGTGAACTCGGTAGGTAAG
Associated Phenotype:
Not determined