ryr1a

Ensembl ID:
ENSDARG00000011422
ZFIN ID:
ZDB-GENE-020108-2
Description:
Ryanodine receptor 1a [Source:UniProtKB/TrEMBL;Acc:A7M793]
Human Orthologue:
RYR1
Human Description:
ryanodine receptor 1 (skeletal) [Source:HGNC Symbol;Acc:10483]
Mouse Orthologue:
Ryr1
Mouse Description:
ryanodine receptor 1, skeletal muscle Gene [Source:MGI Symbol;Acc:MGI:99659]

Alleles

There are 11 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa21768 Nonsense Mutation detected in F1 DNA During 2014
sa21769 Essential Splice Site Available for shipment Available now
sa24879 Nonsense Mutation detected in F1 DNA During 2014
sa16264 Nonsense Available for shipment Available now
sa12583 Nonsense Available for shipment Available now
sa1535 Nonsense F2 line generated During 2014
sa17197 Nonsense Available for shipment Available now
sa18239 Nonsense Available for shipment Available now
sa13565 Essential Splice Site Available for shipment Available now
sa9332 Nonsense Mutation detected in F1 DNA During 2014
sa18990 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa21768
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014749 Nonsense 365 5056 12 105
ENSDART00000137089 Nonsense 331 5028 11 104
Genomic Location:
Chromosome 10 (position 34450135)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAAGTATGGCGAGTCCATGTGCTTTGTGCAGCACGTCGCTACAAGTCTGT[G/A]GCTCACATATGCCTCGGTGGATGCCAAGTCTGCTCGGCTGGGACCACTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21769
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014749 Essential Splice Site 534 5056 15 105
ENSDART00000137089 Essential Splice Site 500 5028 14 104
Genomic Location:
Chromosome 10 (position 34452527)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCAGCCGAGTCGTGGAAAGAGATCGTCAACTTATTTTATGAGCTGCTGGG[T/C]TTGTCTCTGTTTACTCATGATTGTATGATGCAATTTAAAATGATGTACTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24879
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014749 Nonsense 1206 5056 29 105
ENSDART00000137089 Nonsense 1172 5028 28 104
Genomic Location:
Chromosome 10 (position 34465539)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTTTTTTATACTCACCAGGCTTCATCCCTGTATGCAGTCTGGGTATGTCC[C/T]AGGTGGGTCGGATCAACCTTGGTCAAAATGTGAGCAGCCTGCGGTACTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16264
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014749 Nonsense 1884 5056 37 105
ENSDART00000137089 Nonsense 1850 5028 36 104
Genomic Location:
Chromosome 10 (position 34479394)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATCCTGAACAGCAGCTGGTCTGCAAAGAGGAAGGAGCGGAGGTAAAAGAG[C/T]AAGAGGAACCAGCAGACGGTGGAAATGATGGAGAGYTGCTGGATGAAGGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12583
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014749 Nonsense 2054 5056 39 105
ENSDART00000137089 Nonsense 2020 5028 38 104
Genomic Location:
Chromosome 10 (position 34481948)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TAAACTATATTTTATATACAGGTGAACATGTTGATGAACTTTAAGAACTG[T/A]CCAGAGGAAGAAGATTGCCCCGTTCCWGAGGATGTCCGGAATGGCCTCCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1535
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014749 Nonsense 2234 5056 42 105
ENSDART00000137089 Nonsense 2200 5028 41 104
Genomic Location:
Chromosome 10 (position 34489748)
KASP Assay ID:
554-1458.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTCTTTCAGAAATATTATGAGTAACAGGGTATTTTACCAGCACCCCAACT[T/A]GATGAGAGCTCTGGGAATGCATGAGACAGTCATGGAGGTTATGGTGAACG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17197
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014749 Nonsense 2368 5056 45 105
ENSDART00000137089 Nonsense 2334 5028 44 104
Genomic Location:
Chromosome 10 (position 34493105)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCAAAGGGTTACCCGGATATTGGATGGAACCCAGTTGGAGGAGAAAAGTA[T/G]CTGGAYTTCCTGCGCTTTGCTGTGTTTGTGAATGGTTTGTAAAATATATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18239
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014749 Nonsense 2894 5056 57 105
ENSDART00000137089 Nonsense 2860 5028 56 104
Genomic Location:
Chromosome 10 (position 34499012)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTTGTTYTCTTACTTTCTTAAWAGGCAACCTATGACCCCAGTCATGGCTA[T/G]AGCCCCCAACCTATTGATATCTCAGGCAKGACACTGTCCAGAGAGCTACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13565
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014749 Essential Splice Site 2911 5056 57 105
ENSDART00000137089 Essential Splice Site 2877 5028 56 104
Genomic Location:
Chromosome 10 (position 34499064)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCCCCCAACCTATTGATATCTCAGGCAKGACACTGTCCAGAGAGCTACAG[G/A]TACACAATACAACATCAACTTAGAMTTAAAGAGCCCCTATTATGCATTNA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9332
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014749 Nonsense 4193 5056 90 105
ENSDART00000137089 Nonsense 4165 5028 89 104
ENSDART00000014749 Nonsense 4193 5056 90 105
ENSDART00000137089 Nonsense 4165 5028 89 104
Genomic Location:
Chromosome 10 (position 34547838)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCGAACATGTTCCTCACGATACAAGACTGCAGAACTTCCTCGAAMAAGCC[G/T]AGAGCGTCCTGAACTATTTCCGCCCATTCTTGGGTCGCATCGAGATCATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18990
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000014749 Nonsense 4193 5056 90 105
ENSDART00000137089 Nonsense 4165 5028 89 104
ENSDART00000014749 Nonsense 4193 5056 90 105
ENSDART00000137089 Nonsense 4165 5028 89 104
Genomic Location:
Chromosome 10 (position 34547838)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCGAACATGTTCCTCACGATACAAGACTGCAGAACTTCCTCGAACAAGCC[G/T]AGAGCGTCCTGAACTATTTCCGCCCATTCTTGGGTCGCATCGAGATCATG
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/uu1vmx0q