Busch Lab

ZMP

jph2

Ensembl ID:
ENSDARG00000028625
ZFIN ID:
ZDB-GENE-030131-9848
Description:
junctophilin-2 [Source:RefSeq peptide;Acc:NP_001082833]
Human Orthologue:
JPH2
Human Description:
junctophilin 2 [Source:HGNC Symbol;Acc:14202]
Mouse Orthologue:
Jph2
Mouse Description:
junctophilin 2 Gene [Source:MGI Symbol;Acc:MGI:1891496]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa798 Nonsense Available for shipment Available now
sa29982 Nonsense Mutation detected in F1 DNA Not yet available
sa32459 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa798
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
ENSDART00000043429 Nonsense 35 781 1 6
Genomic Location (Zv9):
Chromosome 23 (position 35807213)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 35656866
GRCz11 23 35755669
KASP Assay ID:
554-0703.1 (used for ordering genotyping assays)
KASP Sequence:
GGGAGGGAGGAAAAGCGCACGGACACGGGATCTGCACCGGACCCAAAGGA[C/T]AAGGAGAGTTCTCCGGCTCTTGGAATTACGGGTTCGAGGTGGTCGGAGTC
Long Flanking Sequence:
TTGTTGGGACTGTGAAACACATCCAGCTACTCCAAGTGCGAAGCGGGGAGGCAGGGAGAGGGGAGAGGGGTTGAAAAGCCATGATCTATTCGATTAAATAGATCATTGTAAACAGAAAGCAACAAGATTATGTAACTAAAAACAAAAAGCTAAAAAACAATCCTCCCTCTCCTAAGTCACTTCAACTACAAGACGTTTGATTCAGCATTTAAGGATATAGCCTATACAAAATCAGCAAATGATGAGCGACGACTCTCCAAGTCAGCGCGAGGAAAAAAGGATCGGCTCTCTCCGGTTTACGCATGGATTTAACAGCGCCCGGTAGAGGTTAATCGGTAAATTATAGTTTTTTTAAGTTTGAGAGTTTCGGAAGTTATTGGTGATTGCAGTGAGAAGTGATGAGCGGAGGTCGCTTTGAGTTTGATGATGGCGGAGCTTATTGTGGAGGCTGGGAGGGAGGAAAAGCGCACGGACACGGGATCTGCACCGGACCCAAAGGA[C/T]AAGGAGAGTTCTCCGGCTCTTGGAATTACGGGTTCGAGGTGGTCGGAGTCTACACATGGCCGAGTGGAAACACGTATGAGGGCTATTGGTCCCAGGGGAAGCGTCACGGTTTAGGTGTGGAGACCAAGGGTCACTGGATCTACAAGGGAGAGTGGACGCACGGCTTCAAAGGCAGATACGGGACGCGCATCAGTCAGGGAAGTGGCGCCAAGTACGAGGGCACTTGGAATAACGGACTGCAAGATGGTTACGGCACCGAGACCTACGCTGATGGCGGTAAGGTCGGAGAATGAACTTTTGTGAGTGCAAACTGTGAGTTGACATTTTAAGACAGGGGTTAGGCTGGTGCGTAACGCAATACCTACACCTTGGTAAGAGTCGTAAAGACTTCAACGATCCCGTTTCCGATTTAGATTCTTCGTAATTCTTTACTCACAAAGGGGGAAAATATAGTTCCAAAAAATATTAGCAATTACTGTCCTCATTTGTTGCTAAATAAG
Associated Phenotype:
Normal
Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037		 whole organism
ZFA:0001094		 quality
PATO:0000001		 normal
PATO:0000461

Mutation Details

Allele Name:
sa29982
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000043429 Nonsense 82 781 1 6
Genomic Location (Zv9):
Chromosome 23 (position 35807070)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 35656723
GRCz11 23 35755526
KASP Assay ID:
2261-8075.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGGGGAAGCGTCACGGTTTAGGTGTGGAGACCAAGGGTCACTGGATCTA[C/A]AAGGGAGAGTGGACGCACGGCTTCAAAGGCAGATACGGGACGCGCATCAG
Long Flanking Sequence:
AAAAAGCTAAAAAACAATCCTCCCTCTCCTAAGTCACTTCAACTACAAGACGTTTGATTCAGCATTTAAGGATATAGCCTATACAAAATCAGCAAATGATGAGCGACGACTCTCCAAGTCAGCGCGAGGAAAAAAGGATCGGCTCTCTCCGGTTTACGCATGGATTTAACAGCGCCCGGTAGAGGTTAATCGGTAAATTATAGTTTTTTTAAGTTTGAGAGTTTCGGAAGTTATTGGTGATTGCAGTGAGAAGTGATGAGCGGAGGTCGCTTTGAGTTTGATGATGGCGGAGCTTATTGTGGAGGCTGGGAGGGAGGAAAAGCGCACGGACACGGGATCTGCACCGGACCCAAAGGACAAGGAGAGTTCTCCGGCTCTTGGAATTACGGGTTCGAGGTGGTCGGAGTCTACACATGGCCGAGTGGAAACACGTATGAGGGCTATTGGTCCCAGGGGAAGCGTCACGGTTTAGGTGTGGAGACCAAGGGTCACTGGATCTA[C/A]AAGGGAGAGTGGACGCACGGCTTCAAAGGCAGATACGGGACGCGCATCAGTCAGGGAAGTGGCGCCAAGTACGAGGGCACTTGGAATAACGGACTGCAAGATGGTTACGGCACCGAGACCTACGCTGATGGCGGTAAGGTCGGAGAATGAACTTTTGTGAGTGCAAACTGTGAGTTGACATTTTAAGACAGGGGTTAGGCTGGTGCGTAACGCAATACCTACACCTTGGTAAGAGTCGTAAAGACTTCAACGATCCCGTTTCCGATTTAGATTCTTCGTAATTCTTTACTCACAAAGGGGGAAAATATAGTTCCAAAAAATATTAGCAATTACTGTCCTCATTTGTTGCTAAATAAGCTTTAAATTTACAAACACAGGTATTTTAATTATCATAGCCGTATTAGAGCTGGACTACGAACACAACTTTATAAACTATTTATTTATCATTCAGTTAATTTAAAATACCCTTATAGTACTATTATGAAGATTTATTTACATCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32459
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000043429 Essential Splice Site 127 781 2 6
Genomic Location (Zv9):
Chromosome 23 (position 35798376)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 35648029
GRCz11 23 35746832
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCAAGCCAGCACTATAACATCTTCCACTTAATGTCTTTTTGCAATTACA[G/A]GTACCTTCCAGGGCCAGTTCACAGGTGGCATGCGGCACGGCTATGGAGTA
Long Flanking Sequence:
GCGGAAGAACAAGTAGTTCCGCCTAAGCTGGCATTATTCCGATAAACTAGGGTAATTGTGATTACTTTTCTCTGTTTTTTTATTTCCAATAAACAACATATTTGCTCCAAATTACTAAATATTAATATTTTGATAAAATGATAAATTCTAGAACACACAAAGCTGGTATCAGAGATATTGATAATTTAGTATCGATCCGCACATCACCACTCAACACACCTGCAAGGATGTTTCTAGAAACGAGCTTGAGTAGCTAGCCATGTGTGTCTGATTGGGGTTGGAACTAAACTTTGCAGGACACCGGCCCTCCAGGACTGAGTTAGCACCCTTGTGCCAAACGGTCTAATCCGATTCAATGAACTTTGCTAAACTAAAAGTGTTTCCGCCAGTCTCTTAAATCAACTGAATGGATTAAAAATTGTAAAAGTCAATTGCTTAACTTGAATATTTGGCAAGCCAGCACTATAACATCTTCCACTTAATGTCTTTTTGCAATTACA[G/A]GTACCTTCCAGGGCCAGTTCACAGGTGGCATGCGGCACGGCTATGGAGTACGTCAAAGCGTTCCCTATGGTATGGCAGCAGTGGTGCATTCTCCCCTGCGCAACTCTCTTAGCTCCCTACGTAGTGAACACAGCAATGGCACACTCCTCCAGCAGGACGTCCCGGTCATCACCACCACCAATGCCTCAGGCCAGGAGACTCCAGTCAATTTACCCATGCCTCTGGGGCCATCCCGTGGTGGCTTTGCCCTCACCCTGCAAGTGGACCCAGATGCGGTCAAGCCCAAGAAAAGTGGTCTCTTCCGCCGCGGCTCATTTCTTGGCAAGCTAAAAAAGTCTGATTCCCGCACGTCTCTCTCCAGCCAGAAGAGCAAGATCAGCTTTTTGCGGACTGAGTCAGCATTGAGTTCTGCTGCCAGTGATGCAAACTCCACCATCAGCCTGGGCGAGAGCGAGGGTGAAGGCGAAGGTCATAACTTTCCCCCCGTAGAGGCAGACATT
Associated Phenotype:
Not determined