Busch Lab

ZMP

ryr3

Ensembl ID:
ENSDARG00000071331
ZFIN ID:
ZDB-GENE-041001-165
Description:
Ryanodine receptor 3 [Source:UniProtKB/TrEMBL;Acc:A7M796]
Human Orthologue:
RYR3
Human Description:
ryanodine receptor 3 [Source:HGNC Symbol;Acc:10485]
Mouse Orthologue:
Ryr3
Mouse Description:
ryanodine receptor 3 Gene [Source:MGI Symbol;Acc:MGI:99684]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa9447 Nonsense Available for shipment Available now
sa7471 Missense Mutation detected in F1 DNA Not yet available
sa956 Essential Splice Site F2 line generated Not yet available
sa9285 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa9447
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000077838 None None 409 None 10
ENSDART00000147464 Nonsense 516 4864 14 98
Genomic Location (Zv9):
Chromosome 20 (position 29392620)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 29463833
GRCz11 20 29366712
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATTTTTGTCCATTAGCCGCTTTGATCAAAGGCAACAGGACCAACTGCACA[C/T]AGTTCTCTCGCAAGCTGGATTGGCTAGTCAGCAAACTTGAGCGATTRGAG
Long Flanking Sequence:
TGAGTTGCTCGCCATTTATCAGATCCCCCATCGAGGCCTGCTCTGAATTCTGCTGGCTCTGAGGTGACCCTGGAGAGAGGCCGTGCTGGGTCTGTCTGGAGAACAGTAGTGTGATACATTAGTCTGGTCACAACAGCCAGTTTTTAACGGCTCCATACGGATGCACTCGCTGCCTCAGGAAGCAGCTCTTTTCAGGCTGCCTGGGCTTCAAAACAGCTTAGACGATCTCTCCACAAAGTGCCTTTAGCTCATGGCTGAGTTTGATTGATTGCTCTGTGGGAAAAATAATCTTAATCCGTTTTAGTATTTTACTCACACTAGAGGTGCATTCATTTCACGATATGACTAGTTAAGGTGGGAAGCCTTGTGTGAAGGGTAGCGAAAGGGATTTGTGGGTGTTAGCCTGAAGGATGTAGGAAAAGCACTGTAACATTGAGCTTATTGCCATTGATTTTTGTCCATTAGCCGCTTTGATCAAAGGCAACAGGACCAACTGCACA[C/T]AGTTCTCTCGCAAGCTGGATTGGCTAGTCAGCAAACTTGAGCGATTGGAGTCCTCATCAGGTAAATACCACCATATGTCAACCTGGACACATACATTAGCACTGATTATAGAGGTGTTGTACATTAAGCAGCCATAAACAGAGCAATCCACCATCAGCATCTGCACACATCAGTGATTTTAACAGTGGCACCATGTCACAGTAGTATTACACAGCATTCATAGCAGCACACTGATCATTTTCATTATAAAATCAATAGTCATTTGTTTATACAACTCCCTGGTATCTGATTGTGTTCATTGTTCCTTGTGTTTACTGCAATGCAATATTAATAAAGCGCTTCTGTACAGGCATTTTAGAGGTGCTTCACTGTATCCTAAACGAGAGTCCAGAATCTCTGAACATCATCCAGAAGGCTCACATCAAATCCATTATTTCTCTGCTGTACAAGCACGGGCGCAACTACAAGGTCAGCATTTGCTGTTTCTATAAACACACACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7471
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:
T > C
Consequence:
Missense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000077838 None None 409 None 10
ENSDART00000147464 Missense 699 4864 17 98
Genomic Location (Zv9):
Chromosome 20 (position 29388795)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 29460008
GRCz11 20 29362887
KASP Assay ID:
554-4138.1 (used for ordering genotyping assays)
KASP Sequence:
ACGGTGTTGGAGATGATCTTTACTCCTACGGTTTTGATGGCCTTCATCTG[T/C]GGGCAGGTACATTTWAGGGAATATTTCATCCAAATATGACATTTCTGTCA
Long Flanking Sequence:
TTCGTGTTTTTAGCATTAACAACTTTTACATTTGTTTATTTGCCTTCAAAATTTGAAAAATATATATGCAGCGGTTTACATCTTTGCTTCTTTCATATTTTCAGTAGATATTTGTGCTAGACCACTTGTCAGAAATATTCATTTGGAAACCAGTGTTTTTCACTAAACCAATCATGGTCAATGCAAAAAAACACAATCAAGTGGGTAATATTTTAAAATTACTAATGCATTTTTATTACGCATTATTTTCTGTAATTATTTACAGTATGAGACCCAACATCTTCCTGGGCATGAGTGAGGGCTCTGCGCAGTATAGGAAATGGTACTTCGAGCTGATCATCGATCAAGTAGACCACTTTGTAACCAGTGAGCCCACTCACCTTCGCGTTGGCTGGGCCACCACTAAAGGCTATGCCCCGTATCCCGGCGGTGGGGAGGGCTGGGGAGGAAACGGTGTTGGAGATGATCTTTACTCCTACGGTTTTGATGGCCTTCATCTG[T/C]GGGCAGGTACATTTAAGGGAATATTTCATCCAAATATGACATTTCTGTCATCATTTACTCTCCCTCCACTTGTTGTAAACCAATGTAAATTTCTTTTCTCTGTTGAATTCAAAAGAAGATGTTTTGAAGAATTTTGGTAGCCAAACAGTTAAGGAAACGCTCCACTTATTTGAGAATAGGCTAACTTTACCACTCCCCTAGAGGTAAACAGTTGAGTTTTACCATTTTTTAATCCATTGAGCCAATCTTCGTCTGACTGGAGCACTTTTAGCATAGCCTAGCATAAATCATTGAATCAGATTAGACCATTAGCATCTTGCTCAAACGTTTTTACTTATTGATATAATATGATTAAATGATATGGATTTTTTATTTTTGAATATGATGCTAATGGTCTAATCTGATTAAATGGATTATGCTAAGGTAAGCAAAAAGTGCTCTCGCCAGACCTGGGGCCTCATGTACGAAGACTTGCGTGGAAATCTTACTAAAACATTGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa956
Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000077838 None None 409 None 10
ENSDART00000147464 Essential Splice Site 3194 4864 63 98
Genomic Location (Zv9):
Chromosome 20 (position 29329164)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 29400377
GRCz11 20 29303256
KASP Assay ID:
554-0861.1 (used for ordering genotyping assays)
KASP Sequence:
ATCTGTATGCCTTCTATCCAATGCTCATTCGTTATGTGGACAACAACAGG[T/C]ATTCATGCCTTCACAATGATGGGAACTGTTAAGCAATTCCTATTTCCACT
Long Flanking Sequence:
ATGTTGTGTAACTACCTGTCTTACTGGTGGGCAAAAGGCCCAGAAAACTCCCCAGATGGTGCCAACTGCTGCACATCTGTCACATCCGAGCATCTAAGCCTCATATTAGGCAATATCCTCAAGATCCTCAACAACAACCTTGGAATTGAAAATGCCCCGTGGATGAAAAGACTTGCAGGTGAGGGTGATGGGTATTGATGATTAGCTTGCTTTCATACAGGATGATTCTCAAATGTCTGTAATCTCTCTCCTATGTAGTATATACCCAGCCTATTATTAGTAGAGCTAGTGCAGATCTGCTAAGAGCGCATTTCTTGCCAACGCTGGAGAAGCTGAAGAAGAAGACTGTGAAGGTCGTGTCTGAGGAAGAAATGCTGAGGGCTGAGAGTAGAGCAGACACTCAGGAAGCTGAACTGCAGATTCTGGATGAGTTTGCTGTTCTGTGCAGGGATCTGTATGCCTTCTATCCAATGCTCATTCGTTATGTGGACAACAACAGG[T/C]ATTCATGCCTTCACAATGATGGGAACTGTTAAGCAATTCCTATTTCCACTGCCAAAGGTGTCAATTGTAGGAATCATTCACAGTAAAAACACGAGATATTCCCCAATTTAAGTAATGAGATTTGGAAACAGGTCTGCATGGCTAGATAATCGGATTATTTTCTCCTGCAGAGAAGGAGGTTACCTACCAGCAGTAACATAAATCATGACATATGCAAAAATGTATTGCAAACACACTATACATATAAAATAAGTGGTAAAGTTGCTGCATAGAGTTTTTAATTTTACACTGAATTTGTAATTCCCCAAATCATGTTGGATTATAGATTTAAAACCAGATTTGTTAAAGATAAAATAATTTGTATTTTTTTATTTATTTATGTATAAGCAGGTCTAGACTGGGACTAAAAAATCAGCCCTGGCATTTTGGGCCAGAACGGCCCACTTTCGATACAATCAAAATGCTACCCATCTGTGCACGGCCTTGAAGATGTTTACCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9285
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000077838 Essential Splice Site 357 409 9 10
ENSDART00000147464 Essential Splice Site 4708 4864 93 98
Genomic Location (Zv9):
Chromosome 20 (position 29300218)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 29371431
GRCz11 20 29274310
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAGCGAGGATGAGGACGCGCCTGACATGAAGTGTGACGATATGATGACTG[T/A]GAGTTTTGYTWTGTGTTTTHAAGAGGCATTCATTTGTWTTTATTGTTGGG
Long Flanking Sequence:
ACCAAGTACCACGTGTGGAAAATGGGGGTGGTGATGACGGATAACGTGAGTCTGGCTTAGATATGATGTGAAAACATTAGAAAAATCATCATATATCAGGACAATGACACACTTATTTTCTTTGCTCTCCAGTCTTTCCTCTACCTGATCTGGTACACCACCATGTCTATTCTGGGACATTACAATAACTTCTTCTTCGCTGCTCATTTGTTGGACATCGCCATGGGCTTCAAGACCTTGAGGACCATCCTGTCTTCTGTGACACACAACGGCAAACAGGCAAGTGTCCTCCAGCAGGGGGCGCAGTAGAGCCGTTTTAAAGATCTCTTCAAGTCTAATGAGAAGCTGATGTGCTTTTTTTCAGCTGGTGCTGACCGTGGGTCTGCTGGCCGTGGTGGTTTACCTCTACACCGTTGTGGCTTTTAACTTCTTCCGCAAGTTCTACAACAAAAGCGAGGATGAGGACGCGCCTGACATGAAGTGTGACGATATGATGACTG[T/A]GAGTTTTGCTTTGTGTTTTCAAGAGGCATTCATTTGTTTTTATTGTTGGGTTATACTGGCCATGTTTGCATCAGTAGATGATTGCACCATGAAATTTTGAGTTGTTAGTTTCAGAAAAGCACTTTTTTATATATAAAAAAAAAATGCATTTATTCTGTCAGATGATACACTATACAATGTCCAGCAGTCATGTGACCAGAGTCCTGATTTAGTTGTTTTTCCTTCTTGAATTTTAGTAATATTTGTTGTTTTGTACTATTTGTCTATCAATCTATCTAAATAAACAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATACATATCCCATTTAGCTTCAAAAATCTAATTTTTTTTCTTTTTATTTTTTTTTATTATATTTATCAGTGTAAGTCAGGATTCAGGTCACATGACCACTAGACATTACTTCACAATATCTGAACAATATATACACATACACAGTGCT
Associated Phenotype:
Not determined