ZMP
atl2
Ensembl ID:
ZFIN ID:
Description:
atlastin-2 [Source:RefSeq peptide;Acc:NP_001103492]
Human Orthologue:
ATL2
Human Description:
atlastin GTPase 2 [Source:HGNC Symbol;Acc:24047]
Mouse Orthologue:
Atl2
Mouse Description:
atlastin GTPase 2 Gene [Source:MGI Symbol;Acc:MGI:1929492]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa42136 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa44782 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa42136
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:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000080460 | Nonsense | 187 | 606 | 3 | 13 |
| ENSDART00000127841 | Nonsense | 205 | 624 | 3 | 13 |
The following transcripts of ENSDARG00000057719 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 13 (position 7657612)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 7962132 |
| GRCz11 | 13 | 8294155 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCACGGGAATCCAGGCTTGGAGCGAAGTATTTGTTGTGGAAAAGAAAGAT[G/T]GAACTAAGGTGGATGGGCATTCATTTAAAGTGTTATGTTGCCGTGAGGTT
Long Flanking Sequence:
AAATGCATTAACTAATGAACCATTATTTATAATGTTATCCACTTATTGTTAATGTTATTCACACATTCGTATCATAATAATCACTAGAAGGAAAAAAAAACATGTATTGGCCTTTTTTGTGAGGACTGTAAAATCACTTGTCGGCTACCATTTTCCATTATGATGTTTCCTCCAACACATCAGTTAAGAATAAGTCTATCTGATTTACCATTCCTGAGAACAGGTTTCTGATGACTCCAATCTTTCACATGCCTTAACTTGCGGGTTGCGTCCTGCATCTTGAAAACCAGCTAGGTCACATGAATGTGAGCATACATGTTTTATTACATTCATTTAGAGCAATCACATGAACTGTCTCTTTTGTCCCTTTGTAGTCAGCTGAGTCATGGATAGGAGGAGATGATGAGCCATTGACCGGTTTCTCCTGGAGGGGTGGCTGTGAGAGAGAGACCACGGGAATCCAGGCTTGGAGCGAAGTATTTGTTGTGGAAAAGAAAGAT[G/T]GAACTAAGGTGGATGGGCATTCATTTAAAGTGTTATGTTGCCGTGAGGTTATGTTGACTGTGTGATTACACATATCTCTGTGATGTTAGGTGGCTGTGCTGCTGGTGGACACTCAGGGAGCCTTTGACAGTCAGTCCACTATCAAAGACTGTGCCACTGTTTTTGCTTTAAGCACCATGACCAGCTCTGTGCAGGTGCGTTAAAACATATCAGGGATGTTCAAGGACTGAATAATTCATGGCATTCAAATGACTTCTTGATCTTGTTTGTTTTAGGTTTATAATCTTTCTCAGAATATCCAAGAAGATGATTTGCAGCATCTCCAGGTAGCAACTTTATTAGTGTACATTGTTAGTTAGTAGTGTGTTAGTATTGTGTGTATATGGGACTGTAACATCATCTGTCTTTTATAGCTTTTCACAGAATATGGTCGACTTGCAATGGAGGAGATCTACGAGAAGCCATTTCAGGTAGAAAAGCTGATCATTTCCATTTTGAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44782
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000080460 | Essential Splice Site | 380 | 606 | 9 | 13 |
| ENSDART00000127841 | Essential Splice Site | 398 | 624 | 9 | 13 |
The following transcripts of ENSDARG00000057719 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 13 (position 7651546)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 7956066 |
| GRCz11 | 13 | 8288089 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATCGGTGGAGCTAAAGTCACATGCAGAGATCTGGTGGAGTACTTCAAGG[T/A]CAGATTTCATTACTTTAGCCGCAGCAGCTGTAAACACAAACCAGATTAGC
Long Flanking Sequence:
GTTCAGTTCTCTTTCCATCTGTAAGAGAACATCAACAATAAAAAAAAGAAAAACATTTCAAGAGTGCATTTAATACAGGTTTATTATATTACTAATTATTAATATTGTATTAATTATTATGTCATTATTATTAGTAATGTTTTTTTTTTTTTTTTTTTTGCATAAATAGCACTTCCTCAGCAATGGTTTCATGGATTGTTGAGAATGCATTTTAGGTGTTCAATATGTTGCGTGTCAGTCATGAAATAATAATAGGGGCTGGAAAAAAAGTGCTTTAAATTCCTTGATTTTCATTAAGTTGTGCCTGTATTAATCCTGGATTTACATTATTATGCTTTTTTTTTTTTAATTTTATTCATTTATTTTTGCAGAGATTGATGATGAGTTCAAGAGGGAGCTGCAGAATCTAGTTCCTTTACTGCTGGCACCAGAGAACTTGGTAGAGAAAGAAATCGGTGGAGCTAAAGTCACATGCAGAGATCTGGTGGAGTACTTCAAGG[T/A]CAGATTTCATTACTTTAGCCGCAGCAGCTGTAAACACAAACCAGATTAGCTGTTAATTGTGTTAAGATTTAAACAGAAGAGACTCTGTTCAGGTGTTTTTGTAGAGTTTATGATGTGATGAACGTCTTTTGGTGATAATAAATGAAATTAACATTCATTTAGTTATTAATCATAGACAATTCTTAAGGCAAAATATATGGTGCATGTAGAAACTGACAGTGGCCTATTAACTGATACCAAGCTGCAAGAAATGTTCTTGACACTACCTGTTTTAGCTCTGGTTTGTTATCGCAACAGTTTATTAAAAATTATTCTGCCAAAGCAGGCCTGTTAAAGCTGAAGATTGGCTGAGGGAAAGCTGGATATCTTCAGATTAAGACATTTTAATTTTTCTCTCATTGAGATACAACACCACCAAAGCTTTCTACAAAGGCATGCTACAAATCAGTTACACACAGCAAAATAGATGCATAATCTACGTGGATTTGTCAGTGCACCAT
Associated Phenotype:
Not determined