Busch Lab

ZMP

acy3.2

Ensembl ID:
ENSDARG00000005525
ZFIN ID:
ZDB-GENE-040718-37
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
sa32773 Nonsense Mutation detected in F1 DNA Not yet available
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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:
sa32773
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000004233 Nonsense 143 314 4 8
ENSDART00000122217 Nonsense 447 618 11 15
ENSDART00000136469 Nonsense 143 186 3 5
ENSDART00000139600 None None 116 None 4

The following transcripts of ENSDARG00000005525 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 1 (position 52988229)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 51858828
GRCz11 1 52493566
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATCCATTACACAACCAGTGACTGGGCGACCCTGCACATCTGCAAATACT[T/A]ACAGGTATGAGCTTCACAAGTGTGCTTCAATAAACCCCATACTGTAAACC
Long Flanking Sequence:
TTTATACACAGTAGATGTGGTTCTTTTCCGTATTTTTATTTATTTATTATTATATTTATTATTATTTATTTATTTATTAGATTATTGTGTAGTTTATTTGTTGATCTAGGAGATTACTGTTTAAGGGTATTTTTTTAACTTAAATTACTATGTAGTTTATTTGATTATTTAGTAGATTGTATGGTTTACGGACAGGTAGTCTACCTATATAACCTAACTGCTGAAATAACTGATGTGTACATACTGTTTTGAATGTGTATTACTTCTATATACATAATATGTCAATCTAAAATCCTCACTTTCTTGAAGTACTCCTATTACAGACAGCAGCCCATATGAAGTCCGACGTGCTCAGGAATTAAACAATCAGCTTGGTCCAAAGGAGTCCACAGGTGCAATAGACATGATTTGTGACCTTCACAACACCACATCTAACATGGGTCTCACACTCATCCATTACACAACCAGTGACTGGGCGACCCTGCACATCTGCAAATACT[T/A]ACAGGTATGAGCTTCACAAGTGTGCTTCAATAAACCCCATACTGTAAACCAACGTCAGTCGTTCTTAACTGGTGCTATGATTCCATATTTGGCAAAGAGTAAGGTGGATTAACATATTATTGTGCATTTTAAGTAAATATTAAGTATACTATACTTGATTTTTAATGTAAAATCTTGGTCTTAAAGCTCAACAGGCACCTGATTTCAAAACAATATTAATAAACACACATCAAATTCTTGATGTCTATTTGACATACACTCATTGATGTTCTTTTGACCACCAAAATAACAACACAAAAAGTATTATGGCTAATTTAAGTAAAGTTTTATTCATCAGAAAGCTTCAATTACACATTTACACTGAATGTTGTTTTCCATACAATGAATGTAAACTACCTGGATGTCAAAACAACATCTAATTGACATCTAACCTTGTCATTAAATAAACAGCTGAAATATTGGTTACAGGACAGTCCTGTAATCTGTTTAATCACTTACAG
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.
Availability:
Order Allele From ZIRC
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