ZMP
atxn2l
Ensembl ID:
ZFIN ID:
Description:
ataxin-2-like protein [Source:RefSeq peptide;Acc:NP_997849]
Human Orthologue:
ATXN2L
Human Description:
ataxin 2-like [Source:HGNC Symbol;Acc:31326]
Mouse Orthologue:
Atxn2l
Mouse Description:
ataxin 2-like Gene [Source:MGI Symbol;Acc:MGI:2446242]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa1077 | Essential Splice Site | F2 line generated | Not yet available |
| sa25243 | Splice Site, Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa19965 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa1077
Status:
F2 line generated
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:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000025971 | Essential Splice Site | 507 | 981 | 14 | 24 |
| ENSDART00000133168 | Essential Splice Site | 530 | 1004 | 14 | 24 |
Genomic Location (Zv9):
Chromosome 3 (position 15010999)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 15256605 |
| GRCz11 | 3 | 15406405 |
KASP Assay ID:
554-0979.1 (used for ordering genotyping assays)
KASP Sequence:
AGAGATCACAAATCTCTGAGGAGCTTCGCAAGTTTGGTAATACTTTTAGG[G/A]TGAGTGTGCACGAATGTAATCTGCATCTAGGTTGTTTTCAATCACGTGGT
Long Flanking Sequence:
TGACTTTTTAAATTTGGTAAATATTGCTTTATCATTTTTTTTCCCCTAATTTAACACATTGCTAATTTTTTTTTCTTCTCTCCATGCAGTCTCTCGCTCCCCTAAGCCAGATGCTCCTCCTCAGGACCCTCTTCTGACTGGATCTTATTTGGACCCCTCATCCAAACCTGTTGGCCCCACTCCTCTGTTCCCTGTAGATGGTAAAATGTTGTCATAAATCTGGTTTAAGACACTGTCCAGTTGTCGGTGCGTCTTAACTCCTTTTCATTTTCACCACAGTAAATGAGATCCTGTCGAAGGAAAGGATGGAGAGTCCAGTTGGTCCACAGGAGGGCAAGAGCAACAAAAGTAATGCTAGTATTGTGTTGCTATCTCCAATTTCATTGCATCCTCTTGATATTTAGCTAATGAATGTTCTTCTATTTATTGTAACAGTACCTTCGGTCCAGCAGAGATCACAAATCTCTGAGGAGCTTCGCAAGTTTGGTAATACTTTTAGG[G/A]TGAGTGTGCACGAATGTAATCTGCATCTAGGTTGTTTTCAATCACGTGGTTCTGTTGACTCGCAAAATTCAGATGGAGGGCAGGAAGGACAAAAACTGAGTGGGAGATGCAGGAAAGTCTTTTTGCGATTTTATTTATTTATTTTTATTTTTTTTGCGATGAAATTTCTACTAAACTAAAATATATTTAGCTATTACTTTGAACATACTATAGTGTTTGGAAGCATACTTTAGATTTTTACTTGAATTAAACTGTTGTAGTAATTATATTGTTGCTGTGGTACATCACAACTGTAGTAATAAACAAATTATTCAATAGGCTTCAGTTTGTATAATTATACACCATCACATTGCACCAGAGTTTACTCTAACGTTAAAGTATTTACTATAGTTTCAGTTTAAAATGCTACAGTATTCGGGAGAATTCATTAACAAAGAGTTGTGCACATTATACACTTTACTATGTGGTTTAAAAACATGTTCATTATAAATTACTATAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa25243
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
C > T
Consequence:
Splice Site, Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000025971 | Splice Site, Nonsense | 769 | 981 | 19 | 24 |
| ENSDART00000133168 | Splice Site, Nonsense | 792 | 1004 | 19 | 24 |
Genomic Location (Zv9):
Chromosome 3 (position 15018578)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 15264184 |
| GRCz11 | 3 | 15413984 |
KASP Assay ID:
554-7412.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCTACAGTACAACCAGGTCATCCCAGCAATGCCCCACTACCCTGGACAC[C/T]AAGTATGAGCTTCTACATTTGCATAAAATCAATACCTTTTTTTTATTATT
Long Flanking Sequence:
GTGTAAAATGTGTTTGTTTGTTTTTTTTTTTTTTTTTATAATAATAATGATAATAATAATAAAATAACAGCAGCAACAGTAAAAAGGGTGATGGGTTGTTTATAATAATAATAATAATTATTATTATTATTATTATTTTCCCAATGATGGGTTGCAGCTGCAAGGGCGTTCGCTGCTCAAAACATATGCTGGATAAGTTTGTGGTTCATTCTGCTGTGGTGACCTCAGATTAATAAAGGCACTAAGTTGAAAAAAAGAATGATGATTATTATTATATTATTGTTGAAACTTATTCATTTTATTGTAATAGTCAATGCCTTATGCCCTCGACCTGTCTTATAGGTTCTGTGGTAACTCCTCGTCCAGACCACAGCTCTTCAGCGCCCCCTATGATCCAGGCTGCATCAGCAGCAGGACCTCCTCTAGTGGCGTCTCCTTACCCTCCCTCTTATCTACAGTACAACCAGGTCATCCCAGCAATGCCCCACTACCCTGGACAC[C/T]AAGTATGAGCTTCTACATTTGCATAAAATCAATACCTTTTTTTTATTATTTGTTTATTTATTTTTTTATGAAAAACACCCTGAACTGCTGTTCTTTGTGTCAGGTATACTCAATGCTCCAGGGTGGACCACGGATGCTTGGATCTGGAGGACACCCACAGGCTCTGGGACCTCCAGGCCCTCAGTACCCAGGTCAGACTGAAGGGCCATCAGCTCCTCAACAGGGGATGTATGGTAAGATTTTTTTTATTTTTATTTTATATATGTATATATATTTGACCCTAAACCACAAAACCAGTGTTAAATTTGATCTTTATATTTATACATTGCATGAAAGCTAAATAAATAGCTTCCCATTGCTGTGTGGTTTAGGATGGGACAATATTTGTTTTTATTTATTTTACACAAAAATCAATTTGTTGACCTGATTAAGGCCCAATCCCAATTTTACCCCTTAGCCCTTCCCAATTCATTTTAGCATGAAGCCGAAGGGCTAAGGGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19965
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000025971 | Essential Splice Site | 964 | 981 | None | 24 |
| ENSDART00000133168 | Essential Splice Site | 987 | 1004 | None | 24 |
Genomic Location (Zv9):
Chromosome 3 (position 15029823)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 15275429 |
| GRCz11 | 3 | 15425229 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTGTGTTTTACCTTCTGACTTTGATCATTTGTGTTTTTGTTCTGTGCTC[A/T]GTGCCAGTGCAGGCTCACAATCCCCAGCAGATTCCATATCACCCTTCTGG
Long Flanking Sequence:
TTTATTTTTATCTATTGAATTATTTATATTATTTCAGTTATATTTGTTCTTTTTATTTTATATTTTTTTCATTTTTATATTTTTATATTATTTTATTTTTTACTTGTATTTATTGAATTATTTATTTATATTTATTTAATATATATATTTGTTATTCATTTATTTTGATTTATTGAATTGATTTGTATTGATATTTTTATTTTTATTTATTACATGTTCAGAAATATTGGACAAGCCTGAATCTGTACTGGATTTGTTCTGTTTGTTAGTGCACTGACCACACATTTCTTTTAAAAATAAAAAATAAAAAAATCATGTATTCTGGTCCACCTGGAATGTTACCTTCAAAAGCAGGAGTCGGGCCTGGCTTTAGGACAACTTTGAAAGATTTTTGATCCTCTTTAAATGTTGACTACTGTATACAGGAATGTGCCACAGCATTTATGGTATATTGTGTTTTACCTTCTGACTTTGATCATTTGTGTTTTTGTTCTGTGCTC[A/T]GTGCCAGTGCAGGCTCACAATCCCCAGCAGATTCCATATCACCCTTCTGGAAACTGACAGACAGACTGAGAGGGAGAGAAAGAGAGAGCGCCCCCATCTGGACCTTCTGTGTGACCGCATATGTACATAATCTCCATCTGCTTCACCAACGAGGACAAAAAGATTTCGCTTTTACCTCTGGCAAGACTGAATGTTCTGGTTTTATTTAGGGTTTTTTTTTTTCTTCGTAATTTTTAATTTGAGTGGACGGAGACACGCAGTGTCTAAAAGCAGAACGACGAAACGAGTGAGTGTGCAAGACAAAACAAAAATGGAAAGAATGAGGGACATTTTTATAAAAAATACAGTGACCTCTCCCTTTGTCCTCAAACCCCCCTTATTAAATAAGCAAATAATAAATGGTTAAAAAAAGAACAAAAAAAATAAAAAAAATGTATAAAAAATAAATTTTTAAACTCTCCTCGTGTGTTACGTCATGATTTTTCATTTGCACTTCAGCT
Associated Phenotype:
Not determined