Busch Lab

ZMP

jph1a

Ensembl ID:
ENSDARG00000058603
ZFIN ID:
ZDB-GENE-040724-233
Description:
junctophilin 1a [Source:RefSeq peptide;Acc:NP_001159728]
Human Orthologue:
JPH1
Human Description:
junctophilin 1 [Source:HGNC Symbol;Acc:14201]
Mouse Orthologue:
Jph1
Mouse Description:
junctophilin 1 Gene [Source:MGI Symbol;Acc:MGI:1891495]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa37846 Nonsense Mutation detected in F1 DNA Not yet available
sa17440 Nonsense Available for shipment Available now
sa37845 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa37846
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081495 Nonsense 309 683 2 6
ENSDART00000131830 Nonsense 309 380 2 2
Genomic Location (Zv9):
Chromosome 24 (position 14610700)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 14562148
GRCz11 24 14706567
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGGTTTGGGGTCAGTGAGAGATCCAACGGGCTGAAGTATGAAGGGGAAT[G/A]GATGAACAACAAGAGGCATGGATACGGGTGCACCATATTCCCTGATGGAA
Long Flanking Sequence:
CGTCCGTCAGAGCGTGCCTTATGGAATGGCCACCATCATCCGTTCTCCGCTCCGCACCTCCCTGGCCTCTCTAAGAAGTGTGCAAAGCAACGGCGCCGTTCTCCAGGACACAGTACCAGACACTCCAGTTGGAAGCCGTGGTGGTTTCGTGCTGAATTTTCACAGCGACACCGAAGTCGTCACCGGTAAGAAGAAGGGCCTGTTCCGTCGCGGGTCTCTCTTTGGGAGCCTCCGCCAGCTGCGTAAATCTGACTCCAAAACGTCCATCTCTAGCAAGCGAAGCTCAGCACGTAGCGATGCCACCATGAGCCGCATCAGCTCCAGCGACGCCAACTCCACCATCAGCTATGGAGAAGGAGAGGTGCCTGATGATTACACGCCAATGGAGGACCACGTGGATGCCACCACCACTGAGTCCTACATGGGCGAATGGAAGAACGATAAGCGCAATGGGTTTGGGGTCAGTGAGAGATCCAACGGGCTGAAGTATGAAGGGGAAT[G/A]GATGAACAACAAGAGGCATGGATACGGGTGCACCATATTCCCTGATGGAACCAAAGAGGAGGGGAAGTATAAAAATAACGTGCTGGTGCGCGGGATAAGGAAGCAGCTCATTCCTCTTAAAAACCATAAAACGAAGGAAAAAGTGGACCGGGCTGTGGAGGGGGCTCGAAGGTCGGCAGCTATCGCCAGGACGAAAGTGGAAATAGCAGTTTCAAGGTAGGACCACTTCTTGCGCTGGCAGCGCGTATTCTGTCATCACCTACACATCCTGACATTTCAAACCCATATGAGTTTCTTTCTTCAGGAGAACGAGAAAGGTGAAATGGTGATGAATGTGCAATGTTCACAGATCATGGGATCACTAAACAATTTTAATGAGTTCAATATCAAATAATTTCACCAACCTATCAGCGAAACACTTTTAAAGGGCACCTATTTTACCCCCTTTTCAAGATTTAGGATAAGTCTTTTGTGTCTGTAAAGTTTCAGCTCAATATACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17440
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:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081495 Nonsense 431 683 4 6
ENSDART00000131830 None None 380 None 2
Genomic Location (Zv9):
Chromosome 24 (position 14540853)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 14492301
GRCz11 24 14636720
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGKTTATGATCTTCCTGACAGGACTGGAATACATCAAGCAGAAGTTCAGT[G/T]AGCCGGTGGAGGAGATTAAAGAAGAAGCACCCAAAGAAGAGGAGAAGAAG
Long Flanking Sequence:
AGGTTTAATCAGTGTGAAATGCAAGTGAATGGATGCGGTAAGTGTTGTCACTGTTAGTGCGTGGATCTAAAACAAAACATAATGCTATAACATAATGGGCATAACTGACCAAACAATCAAAAAACTGCGGTCTAGACGAACTCTTGCAATGCAATGCAACCTAAATAAGGGCGATGATGATCCCAACCAATTACAGACCAAACCAAAACAAAGCAGTCCTAACATATATATATATATATACATCAAAACTCAAATCATTTCAAATGAATCACACCATATTTCACACACACCATATATTGACAAATTTCTTATTGGCTTTTTTTTCATTCAAAAATATTATTAACTGTTATAAAATACCTAAAAAGCAATGCCTTTCTTTACTTTTTTTTTTACCAGAAAAGTGATTTAATTACAGTAACGAGTTATATTTTAACTAATTACACTTAACACTGTTTATGATCTTCCTGACAGGACTGGAATACATCAAGCAGAAGTTCAGT[G/T]AGCCGGTGGAGGAGATTAAAGAAGAAGCACCCAAAGAAGAGGAGAAGAAGTCTTCAGGTAGCCCTTTCTACAGGCGCGGGACGACTCCGAGCCACTCTCCAGCCCAAAGCCCGACCCCATCCCCTCCCCGCACCTCTCAGAAAAGCCAAGCGCAGAACCCCAGCATTAGCCGCAAGATCAGCAAAGACAACAGCGTCACGGCCCGCAAGATCAGCAGAGACAGCACTTCTGTAGCCCGCAAGATCAGCAAAGAAGAGAGAGCCTCCATTGTGGCCGAAATCACCAAAGTATCCGTACCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTGCAGTTCAGACTATCAAGCTGCAGGATGTCCCACCTCCAAAGCCTCCTAAAGCACTTGAACCCGTGGCCAAACCTGCGGGCACAGGTAACGGGCAGCTTCATACTGCCTATCACAGTTATTATGTGAAGCCGGTGAAGCAGTTGCCACCGCCAGAGGAGCCCGAAGATGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37845
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081495 Nonsense 511 683 4 6
ENSDART00000131830 None None 380 None 2
Genomic Location (Zv9):
Chromosome 24 (position 14540613)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 14492061
GRCz11 24 14636480
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGCGTCACGGCCCGCAAGATCAGCAGAGACAGCACTTCTGTAGCCCGC[A/T]AGATCAGCAAAGAAGAGAGAGCCTCCATTGTGGCCGAAATCACCAAAGTA
Long Flanking Sequence:
CATCAAAACTCAAATCATTTCAAATGAATCACACCATATTTCACACACACCATATATTGACAAATTTCTTATTGGCTTTTTTTTCATTCAAAAATATTATTAACTGTTATAAAATACCTAAAAAGCAATGCCTTTCTTTACTTTTTTTTTTACCAGAAAAGTGATTTAATTACAGTAACGAGTTATATTTTAACTAATTACACTTAACACTGTTTATGATCTTCCTGACAGGACTGGAATACATCAAGCAGAAGTTCAGTGAGCCGGTGGAGGAGATTAAAGAAGAAGCACCCAAAGAAGAGGAGAAGAAGTCTTCAGGTAGCCCTTTCTACAGGCGCGGGACGACTCCGAGCCACTCTCCAGCCCAAAGCCCGACCCCATCCCCTCCCCGCACCTCTCAGAAAAGCCAAGCGCAGAACCCCAGCATTAGCCGCAAGATCAGCAAAGACAACAGCGTCACGGCCCGCAAGATCAGCAGAGACAGCACTTCTGTAGCCCGC[A/T]AGATCAGCAAAGAAGAGAGAGCCTCCATTGTGGCCGAAATCACCAAAGTATCCGTACCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTGCAGTTCAGACTATCAAGCTGCAGGATGTCCCACCTCCAAAGCCTCCTAAAGCACTTGAACCCGTGGCCAAACCTGCGGGCACAGGTAACGGGCAGCTTCATACTGCCTATCACAGTTATTATGTGAAGCCGGTGAAGCAGTTGCCACCGCCAGAGGAGCCCGAAGATGAGGAGCCTGAAATCACACAGTCCAGTCTGGCCAGGATGCCTCCACCTCCCAAAACGCTCAACACACCCACTCCCAAACCAGAGGTCAAGATCAGGAAACAAGAGTCTATTAAACCAAAGAGCTTAGCTGAAACCAAGAAGGCCAGCTTGGACCTGGTTGAAGAAGCAACGGTGGAAGAATCTGTAAGTTCTTAAGTTATTCTGACACTCATTAATGCACACAGGTCCATTTGAATGGAATGC
Associated Phenotype:
Not determined