ZMP
acy3.2
Ensembl ID:
ZFIN ID:
Description:
Aspartoacylase-2B [Source:UniProtKB/Swiss-Prot;Acc:Q6DHQ3]
Human Orthologue:
ACY3
Human Description:
aspartoacylase (aminocyclase) 3 [Source:HGNC Symbol;Acc:24104]
Mouse Orthologue:
Acy3
Mouse Description:
aspartoacylase (aminoacylase) 3 Gene [Source:MGI Symbol;Acc:MGI:1918920]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa13630 | Essential Splice Site | Available for shipment | Available now |
| sa19603 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa13630
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 > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000004233 | Essential Splice Site | None | 314 | None | 8 |
| ENSDART00000122217 | None | None | 618 | None | 15 |
| ENSDART00000136469 | None | None | 186 | 1 | 5 |
| ENSDART00000139600 | None | None | 116 | None | 4 |
The following transcripts of ENSDARG00000005525 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 52992447)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 51863046 |
| GRCz11 | 1 | 52497784 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGTGTCTAAGTGGTCGCTGAAGAATGTCTTAAACTGTTAACGTGTGTGT[A/G]GGCGCATCCCCTGCAGTGCCGTGGCCCCTGCRGCTAGAATAGGCCTGCAC
Long Flanking Sequence:
CATCAGGCTGTGCTATAAGATAATGTTGCCATGTTTACGTCTAGTATTGATCTCATTTTGTTTAAACATCCGAGCTGATTTTTGCATTGACAGCAGCTGTTGATTTTGTAAGGAAATTAAAAACAGAAACGATGACAGGAAATACTGGTTTGTTAGAAAACCGCCTGCCTGCATGGCTTCCTCTCTCATTATGTACGGTTGTAAAGTTAAGGTAATAATCTCTAAGTTCTGCAGTCCTCTCAGTTGTCATGTTTCTCCTCCCCTTCTTGCGTCCCCCCCACACACACTCTCCTTTTAGCGCTTGTATGAGTCAGCAAAACTCTCATTTCATAGCAGTGGAACTGAGAGTTGCTAGGGCGTCAAACATCATGTGTGAAAGATGATCCAAGGGTGGCGGCTGAGGCAAGGCAGAAAAGGAGGAGGTACGTTATTGTTTTGCATGTTGCATCAGTGTGTCTAAGTGGTCGCTGAAGAATGTCTTAAACTGTTAACGTGTGTGT[A/G]GGCGCATCCCCTGCAGTGCCGTGGCCCCTGCAGCTAGAATAGGCCTGCACTGGCTGAATGTGTGTCAACACGCATGCCCTGTCACACCTCACCGTATGTGTCCAAAGGTCTCATATCCCTTGTGCAACTTCCCTCAGTAAGACGATTAGAGGGACAGCGTTGGGAAGAAGGAGCAAATCAACACTTCTGTCTTAAATATAACGGTAAGAGGTTTTGCTTTCAACTTTTGCATTATGTGTTGCATGTAATCGCATGACATCTGCAATAAATGCACAATGCTCAACAGAGCAATTTAGTGTCTGAAGGAAAACAGCAAAACTCCCTCCAGCAATGGAGCTTAAACTAATACTACAGTCACATGTTCTTAAAGGTATACACACTCAAATAATGATGTTTGCTGTTTTTTGAAACCACTTATTTATAAAACAAGATTAAACAACACAATTCTTAAGTGTTTTTTTTTTTGGGGGGGGGGGGGGGGGGCAGCTTAACTGTTTTAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19603
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000004233 | Nonsense | 224 | 314 | 7 | 8 |
| ENSDART00000122217 | Nonsense | 528 | 618 | 14 | 15 |
| ENSDART00000136469 | None | None | 186 | None | 5 |
| ENSDART00000139600 | Nonsense | 26 | 116 | 2 | 4 |
The following transcripts of ENSDARG00000005525 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 52987077)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 51857676 |
| GRCz11 | 1 | 52492414 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAATTTGGCTTTCAGGGACCGTATTTGAAGGTGGAGATGTGGAAGCCTTC[A/T]AGATCATCAAAAGTGTGGATTATCCCAGAGATCCAGTGACTCGAAGTCTC
Long Flanking Sequence:
CAAATTCATGAGTATGGTAGAATTTTGGTGTCACTGCATGTGTGTTTTGATGTTGTCTGTTGTCGTGTACATATTTAAGACTAAGATAACCAAAGTGCCTGTGAGAGTGATGGTACTGGATGTCCCATATAGTGATGCATATTCCTTGGAGTCCGTCTCCAAGCATGGCTTTTGTAAGTGATGGTGATCATCTCAATGCATTTTGTTTGTGTACTCATCATTATTCAACCCCAAAGGCACGCTCAGCTGATGAGTATCATGATTGCCTGTGTTTCTATAGCAATTGAGGTCGGGCCGCAGCCCCATGGTGTTGTCAGAGCGGACATCTATGTTATTATGAAGGAGGCCGTCGACTTAACTATAGACTGGATTCATAAATTCAACTCAGGTACTGGAGGATCTAAAAATGTGGTGTTTTTTTAGCAGTGATATTGTGTTAGCAAATGTATTTAATTTGGCTTTCAGGGACCGTATTTGAAGGTGGAGATGTGGAAGCCTTC[A/T]AGATCATCAAAAGTGTGGATTATCCCAGAGATCCAGTGACTCGAAGTCTCAACGCTGCTGTTCATCCTCAGCTTCAGGTGATGATCATTATTTTTATTATTACGTATATTTTACACACAGAATGTGCAGAAATTGTTATAAAGCTGATAAAGTTGTCCAGATCTGATGGTTACTTTATTTATTGCATTAATTAGAACGGCATTTAAATTTGATCTCTATTACACATGTAATTGAGGCCAGCTAGTAAAGTGCTATGCAGGTAAACCTTACTCTTATGACCTCTAAAGGTGCTCAGACGCTAGAGGCCATCGTCTTTAGCCTCCTTGTTAGAGCAACTGACTCGTATGCAAAGAATCACCAGTTCGATCCTTGTTTAGCGCGGGTTGGGTGCCATAGGACTGGTGGGTTACACATGGGGGCTCGTCCGGGATGGGAGTGTGGTTTAGGGGGGTGAGTGTAACAAAGGCCAGCTAGCTATGCTATGAGTGCTATGCAGGTAA
Associated Phenotype:
Not determined