ZMP
aire
Ensembl ID:
ZFIN ID:
Description:
autoimmune regulator [Source:RefSeq peptide;Acc:NP_001103484]
Human Orthologue:
AIRE
Human Description:
autoimmune regulator [Source:HGNC Symbol;Acc:360]
Mouse Orthologue:
Aire
Mouse Description:
autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy) Gene [Source:M
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa17261 | Essential Splice Site | Available for shipment | Available now |
sa1404 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17261
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000079317 | Essential Splice Site | 289 | 513 | 7 | 14 |
ENSDART00000133250 | Essential Splice Site | 287 | 511 | 7 | 14 |
ENSDART00000147935 | None | None | 93 | None | 3 |
Genomic Location (Zv9):
Chromosome 2 (position 22277387)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 23164092 |
GRCz11 | 2 | 22819743 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGTATGTTGTTGCAGTGTTAACCTGCTACCCTCAAAAAATKACATTTGCT[G/T]TTAGTTCATTACATTGACTATTGACTATTTATTTAAAATCAGCTAAAACA
Long Flanking Sequence:
TTAATAATTATAAGGGAACAAGTTCACTCTCTCTTTTAAGTAAAGTGAACTAATCACTTTTTACAGTGTGCAATGGTCTAACCAATGCAAGGTAAAACCAACAACATCTTATGCAATAGGACTCAAAATGTGCTAGAAACCATTCAAATATTCTTAATTGTTCAAATTTGTAAGGTTTATTTATGGCCTTATTATGATAAAGAAAAACAGGATAACATGTCAACTTAAGTGAAATTATTATATAGGCCTACTGCAGGGGTGGCCAACCCTGTTCCTGGAGAGCCACTTTCCTGCAGATTTCAGTTGCAACCCATATCAAACACACCTGCCTGTAATTATCACGTGGTGTTCAGGTCCTAATTATTGGTTCAGGTGTGTTTGATATGTGTGGCAACTGAAATCTGCAGGAAGGTGGCTCTCCAGGAACAGGGTTGGCCACCCCTGGCCTACAGTATGTTGTTGCAGTGTTAACCTGCTACCCTCAAAAAATGACATTTGCT[G/T]TTAGTTCATTACATTGACTATTGACTATTTATTTAAAATCAGCTAAAACATCACAATTCTTGAGTTTTTTGGGGGACAACTTAATTGATTTATGTTCACTCTATTTAAATTTGTAAAAGTAACTTAATCCTTTCATGTTGTCCCAATGTGGAACCTAGCTTTATTTTTACAGTGCACTGTTGTTGTGTTCAGGTAGAGCACAATGATGATGAGTGTGCAGTGTGTAAAGACGGCGGCGAGCTCATCTGCTGTGATGGGTGTCCTCGTGCCTTTCATCTCTCCTGTCTGGTGCCCCCCCTCACCTCCATACCCAGGTACAGAGTATTCATGTGGGACCACCAGAACCTAGAGCTGACCAACAGTAGAACTGTGCTGTATTTCATATATAAGACCTACTGCATTACTGTCTTTAATTCTGTAAGTAGTGTGTTCACACTGAAAACTCTAAAAATAATAAGGGCACTTTAATTATGCACTCATTCAGCCAGTAAAGTGAAGTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa1404
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000079317 | None | None | 513 | None | 14 |
ENSDART00000133250 | None | None | 511 | None | 14 |
ENSDART00000147935 | Nonsense | 55 | 93 | 3 | 3 |
Genomic Location (Zv9):
Chromosome 2 (position 22303695)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 23190400 |
GRCz11 | 2 | 22846051 |
KASP Assay ID:
554-1325.1 (used for ordering genotyping assays)
KASP Sequence:
TACAAAGGGCTTGTCTTAATGKAGTTTTCTTCTTTTTATCTAGATAAAGT[G/A]GCCTGGAGCAGAATGGGCCCGTGAACAACCCAGTCCATTGAAGGCCGTCT
Long Flanking Sequence:
TGTGTAAAATAGTAATATTTGTTTAATCTATTAAGATTTTATTTTCATTTTGCATACCAGCCAATCCTCTTGCTTACTCTCTTTGCTAAAGAAAATACATTTTATCTATTTTGGGAGATTTATTGAATTTACTGACCAATTATCGGCAATTCCAGAGAACCGATGATAACTTCGAAGTGCTCTGAATTATGTCCTGCAATGTAAGATTAAGCAGATAAGCTTTTTCAAAACTATTTTGTTTTCATATCAGGCTGATGACTCTTTCTGTCCTAACTTGACCCATATACTTAACTTTCACAGAGTTATCCATACACACACTGTAAGATGTAAATGTGAATTTGAGTTGGATCATTTATCAAATAAAATGTATTTAAACAAAGCATGTTGATATTATTAAAAAAGCAACATTCTGCTGGGTTTTGTTTAAAGACTGCTTTATATTTATGCTGATACAAAGGGCTTGTCTTAATGTAGTTTTCTTCTTTTTATCTAGATAAAGT[G/A]GCCTGGAGCAGAATGGGCCCGTGAACAACCCAGTCCATTGAAGGCCGTCTCATGCTTCAATCGCATCTTAAATCACAAATGTGCCATGAAAATATTCCAGGCCAGTAGCAGCCAATAAAGGCTGAATTGTGATGAGTATAGAGCATCCTCTCTAGTGCTGCATACCAACAGCCTGCTTTGCACGACCCAGACAACCACATCTGATCCCTGTGGTGCTGAGTTTAACTTTCTTCTTTCACTCGTCTTCTTTTCCAAGTCTTGTGATTTCTCTAAAAAATCCCACATGGTGCTTTATAACTGTGAGATATCAGGACAAATGCTGAAGGAATGGAGATATTCCAGTTTGGCTCCTCGATAGGGCTGTTGGGGGAAAACAAAGCGAATACAAGACTGAATGTCAAATATAAACGTGCTTTGAAGTCTTGCCATTGGCTTCCAGGAATGACTTTAAGGAAGAGTTTTGACTGATTTGCACAGACTTGTCGTTGAGTACTTCCTTT
Associated Phenotype:
Normal
Stage | Entity | Quality | Tag |
---|---|---|---|
Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |