Busch Lab

ZMP

LOC565205

Ensembl ID:
ENSDARG00000059534
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 5 alleles of this gene:

Allele Name Consequence Status Availability
sa13918 Nonsense Available for shipment Available now
sa18407 Nonsense Available for shipment Available now
sa15894 Essential Splice Site Available for shipment Available now
sa21097 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa13918
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082842 Nonsense 217 887 2 5
Genomic Location (Zv9):
Chromosome 7 (position 58050945)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 56486271
GRCz11 7 56787682
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGCTCACAGTGAAGCAGACAGGCACAGGAAGAGGAAAGGCCGCTTCCGA[C/T]AGTCCATACTWAGCGGTTTAAAACTGCGGAGGTCTGAGTCCAAGAGCTCT
Long Flanking Sequence:
CAATATATTGTATGTGTGTTTGTGTTTGTAGCCTATTTATATCATATATTTGTAATGCATTTAGGAAGTTATATAAGCTTTATCAAGTAACAAAATATAACCAATTGTTATTGCATGTTCAATCAAATAATCTTTAAACGTTACCTCAAATTACTTTCTTATCAACGCAAGAAATATGTTTTTTTGAAATAACCGTTTTTTGTATCATTATAAATATCTTCGTTTCTCCCGCAGGCACATACCAGGGCCAGTGGTTGAGTGGTTTGCGCCATGGCTATGGAGTGCGACAGAGTGTGCCTTATGGCATGGCAGCCATCATCTTCTCCCCTATGTGCACCTCCATAAACTCCCTACGGTCTGATCACAGCGAAGGGGCTCCCACCCCAGAGGATGGCTCTGGTGTCAGCGGGGTATCTGGCAGTCCAGTTGGCCGCAGTGGCTTTGTATTATGTGCTCACAGTGAAGCAGACAGGCACAGGAAGAGGAAAGGCCGCTTCCGA[C/T]AGTCCATACTAAGCGGTTTAAAACTGCGGAGGTCTGAGTCCAAGAGCTCTCTAGCCAGCCAGTTAAGCAAGCAGAGTTCCTTCTGCAGCGAGGCAGGTATGAGCACCGTCAGCTCAGCCGCCTCAGACATCAACTCCAACGTCAGCTTAGGTGAGGCGGAGGCAGGGGGCAGCGTGGATGCCACTGTCACCGAAACATATGCTGGCGAATGGAGAAATGACATGCGAACGGGTTGGGGTGTAAGTCATCGCTCGGATGGACTTCACTTTGAAGGCGAATGGTTTGGGAATAAGCGGCACGGTTATGGCTGCACCACTTTTCCAGACGGAACAAAAGAAGAGGGAAAATACAAGCAGAATGTTCTGGTGAGTGGCAAACGGAAAAACCTGATACCACTCCGAACAAGCAAAATCCGGGAAAAGGTGGATCGTGCTTTGGAAGCTGCTGAGAAAGCTGCAGATATCGCCAAGCAGAAGGCTGAAATTGCATTGTCCAGGTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18407
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
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Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082842 Nonsense 238 887 2 5
Genomic Location (Zv9):
Chromosome 7 (position 58050881)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 56486207
GRCz11 7 56787618
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CGGTTTAAAACTGCGGAGGTCTGAGTCCAAGAGCTCTCTAGCCAGCCAGT[T/A]AARCAAGCAGAGTTCCTTCTGCAGCGAGGCAGGTATGAGYACCGTCAGCT
Long Flanking Sequence:
GAAGTTATATAAGCTTTATCAAGTAACAAAATATAACCAATTGTTATTGCATGTTCAATCAAATAATCTTTAAACGTTACCTCAAATTACTTTCTTATCAACGCAAGAAATATGTTTTTTTGAAATAACCGTTTTTTGTATCATTATAAATATCTTCGTTTCTCCCGCAGGCACATACCAGGGCCAGTGGTTGAGTGGTTTGCGCCATGGCTATGGAGTGCGACAGAGTGTGCCTTATGGCATGGCAGCCATCATCTTCTCCCCTATGTGCACCTCCATAAACTCCCTACGGTCTGATCACAGCGAAGGGGCTCCCACCCCAGAGGATGGCTCTGGTGTCAGCGGGGTATCTGGCAGTCCAGTTGGCCGCAGTGGCTTTGTATTATGTGCTCACAGTGAAGCAGACAGGCACAGGAAGAGGAAAGGCCGCTTCCGACAGTCCATACTAAGCGGTTTAAAACTGCGGAGGTCTGAGTCCAAGAGCTCTCTAGCCAGCCAGT[T/A]AAGCAAGCAGAGTTCCTTCTGCAGCGAGGCAGGTATGAGCACCGTCAGCTCAGCCGCCTCAGACATCAACTCCAACGTCAGCTTAGGTGAGGCGGAGGCAGGGGGCAGCGTGGATGCCACTGTCACCGAAACATATGCTGGCGAATGGAGAAATGACATGCGAACGGGTTGGGGTGTAAGTCATCGCTCGGATGGACTTCACTTTGAAGGCGAATGGTTTGGGAATAAGCGGCACGGTTATGGCTGCACCACTTTTCCAGACGGAACAAAAGAAGAGGGAAAATACAAGCAGAATGTTCTGGTGAGTGGCAAACGGAAAAACCTGATACCACTCCGAACAAGCAAAATCCGGGAAAAGGTGGATCGTGCTTTGGAAGCTGCTGAGAAAGCTGCAGATATCGCCAAGCAGAAGGCTGAAATTGCATTGTCCAGGTAAGACATGAAGTGTTTTTTAACATATAAGAGCAATTCGTGGCAAAAAAGAGCAATCCATCACAATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15894
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
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Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082842 Essential Splice Site 424 887 3 5
Genomic Location (Zv9):
Chromosome 7 (position 58049601)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 56484927
GRCz11 7 56786338
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGGGCTATAGCCAAAGAACTTTCCCCCTCTTTCCATCAYTATGGRAATGG[T/A]AGGWTAAAATACACTATAGCRCTAAATYTGTAATGSATATAAAATGCTAT
Long Flanking Sequence:
TGGTGCTTTTGATGTGAAGAGTAGCCCAGAATTGTAGCCCTCCAGGTACGTTTTAGCCAGGGGTGTCCAAACCCAGGACCAATGTCCTGCATATTTTAGTTCCAACCCAAATCAAACACATTTGAAACTGCTAATCAAGCTTTTTCTAGGTATACAAGTATCTTTCAGGGAGGTGTGTTGAAAAAAGTTGGAGCTAAACTATTCAGGACACCGGCCATCCAGGATCGAGTTTGGACACCCCTGGTTTAGGCCTTCTGAGTTACAGTGATGACCATCTGAGCCAAACACAGTTGAAGCCCCAGCTTGATTTTTGGTAAAACATTGCTTTAGTCAAAATAAATGCTAAATAATGCAATATTTTCCTTTTTTTACAGGATGAGCCATGCTAGAGGAAAGGCAGAGGCTGCAGAGGGAGTCGCACAAAGAGCCCTGGAGGAGTGTCGTCTGGCCAGGGCTATAGCCAAAGAACTTTCCCCCTCTTTCCATCACTATGGGAATGG[T/A]AGGATAAAATACACTATAGCGCTAAATCTGTAATGGATATAAAATGCTATATACCTGATTTCTTCAACTTTGTTTCTGGAGACCCCCTGTGTTGCAAAGTTTAGCTCCAATCCTAATCATGAACTGCCCGTTATATCGTAATTCACAATGCCTTTTAATGACAGGCTTTCACCTAGATAGTTATACTGTAGTAATTCAGTAAGAAGAGCTACCCCCACTCCTCTCCGCAATTTCTTTAGTTTTTAGTTGCCTTTGCATCATCAGTAGGAGCTATGAAGTGTTTTATGCGGCCGAAATGTGGCGAAAAGAAAATCAGCAACTGGAGGATGGAGGACTCTGCGAACAAAGTTTTATTTTTGTTGTGATAATAGAGATGGAATGTGATTGAAAGAGCAAACAAAGGAACTAAATCACCTCCCATAACTTGTTGTAGTACCACATCAATGAGCAAATAATGCATTGGTTCAGACAAAGGTGACAGGTAAATGCTCCTACATTAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21097
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082842 Nonsense 560 887 4 5
Genomic Location (Zv9):
Chromosome 7 (position 58048201)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 56483527
GRCz11 7 56784938
KASP Assay ID:
2259-9581.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCATCCCTGCTGGAAGAGGAGATCAGTCACATTAATGGACATGAGAACT[C/A]AACTCATCATCCATGGGAGAACGGCTCCTCTAACCACAAGCCCATCGAGC
Long Flanking Sequence:
AATCTAACTTGGCAAAAAACACTTGGTGATTACAATATTATTGTATAATCCGTTCCTTATTGTGACCATGTCTTATAATTTCTGTAAACTAGGACTGGAATGCCAGAGACCAAAGCATCATGACAGGAAAGAGAAAGACCATGAGGTGGTCTCCACTGGCACAGACAGCCCCGAGCTCTGCACACCAGACACAACACCCCCAGTCCAAACGCCAGACCTGAGCCCAGTTTTGAGCAGTCCCTCATCGCCACCCTGCAGTCCCCCTACTCATCGCAACAGGAATGCTTGTTTTATGCGTCAGAGTGCAGTGGACGAACAAGGAGGGGCTGAGATTCAGGTTCTAGTTGAAGGCAGAGGCATAGACAGCACGAGAGCTGGGGCTAACAGCTGGACGGCTGAGATGTATCCTCACAGAAGAGGAAGCAAAGGGGAAAGCAGTCGTTCCACAACTCCATCCCTGCTGGAAGAGGAGATCAGTCACATTAATGGACATGAGAACT[C/A]AACTCATCATCCATGGGAGAACGGCTCCTCTAACCACAAGCCCATCGAGCATATGGCCCCTGAGAAGGTCTGGGATCAAATGTCCTCCAATCAAAAGCCCTGGAAGCATGTTTCCTTAAATCAGAAAACACGGGAACATGCAATTTCTAGGGAGCGAGAACGAGAGCATAAACCATCCAATCACAACTCTGTTGATTGCGAATCTTCCAAGTTCAAACCACAGGTGCACATATATTCCAATCACAAGTCTGCAGGTCATAACAATTTATCCAATCACAAGACCAATGAGCATGCTTCCACCAATCACAAACCAAAGGAGTTTATTTCTGCACATGAAAAACCACACGTTTCTTATCATTATAACCCCCAAGAGCATGTTTCCTCCTATCACAAACAACACGAGCATGTCCACTCAAACCACAAGCCACGAAAGTCCTTCACCAATCATACGATTGGTGAGCCTAGCTTAAATGCATACCAGCTCTCAGACCGTGGGGCCA
Associated Phenotype:
Not determined