Busch Lab

ZMP

AP3B2

Ensembl ID:
ENSDARG00000063432
Description:
adaptor-related protein complex 3, beta 2 subunit [Source:HGNC Symbol;Acc:567]
Human Orthologue:
AP3B2
Human Description:
adaptor-related protein complex 3, beta 2 subunit [Source:HGNC Symbol;Acc:567]
Mouse Orthologue:
Ap3b2
Mouse Description:
adaptor-related protein complex 3, beta 2 subunit Gene [Source:MGI Symbol;Acc:MGI:1100869]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa30196 Nonsense Mutation detected in F1 DNA Not yet available
sa37995 Nonsense Mutation detected in F1 DNA Not yet available
sa10266 Nonsense Available for shipment Available now
sa32510 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa30196
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
ENSDART00000092663 Nonsense 361 1102 10 26
Genomic Location (Zv9):
Chromosome 25 (position 6188719)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 5599270
GRCz11 25 5725786
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGTGTTTGAATATGCAGCGTTTTGTCTTGTAGGGAATGTTTGAGCCGTA[T/A]CTGAAGAGTTTTTATATCCGCTCCACCGACCCGACGCAGATCAAAATTCT
Long Flanking Sequence:
CCGCTCCAAACACGATTTGCACTATACTGCGCCGGGTGTATGATAGAATGTGAATCAATGATTTGATGGCCAGCAGAAAAACACACTACGGAAAATATTGCTGTTACTTCTGGTCGTTATTACAAACCTTTAGTGTATCTACATCTGCTGTGTGTTTTGTGTGTCTGCAGTGAAGTGCAGTATGTCGTGCTTCAAAACGTGGCCACCATGACCATCAAGAGAAGGGTGAGCGATACACTATTTAACACAGTAAATTGGAATTAAATATCTTTAAAATCGTTCAGATACATTCTGATTAAGTATTTATCGAAAAAAAGTCTTTATGTTTATGTTTTTGTTTAAAGATTTGACCTTGAGATCGTTTTAAATGCTTTTCTGCAAAGGCAAAATTTAATACAAAAGTTCAACCAGCATTCAAAATGTGTTGATGCATACGTTCACATGCTGTTGTGGTGTTTGAATATGCAGCGTTTTGTCTTGTAGGGAATGTTTGAGCCGTA[T/A]CTGAAGAGTTTTTATATCCGCTCCACCGACCCGACGCAGATCAAAATTCTCAAGGTGACGCTGCGTTTTGCTTTGGAACATGTTTTATTTATTGTGTGCTTTCATATTATGCCATGCAGTTATTTCTCTAAAGAGTTTTGAGTAAGAGTGTTTTCAATTCTCTGTTTCTGACACAGCTGGAGGTTTTGACTAATTTGGCTAACGAGACGAACATCTCCACCATCTTGAGAGAATTTCAGGTAGATTACACTGTGTAGTACAATGCTGTATATCTATTAAAAGTTTGGGCTTGAGGTGATATTAGTAAGATTATACTGTAAGTAGCGACACGGTGGCTCAGTGGTTAGCACTGCCACCTCACAGCAAGACGGTCGCTGGTTTGAGCCCCGCCTGGGTCAGTTGGCATTTCTGTGTGGAGTTTGCATGTTCTCCCCATGTTTTCTCCGGGTGCTCCGGTTTCCCCAACAGTCCAAACACAAGTGCTATTGGTGAATTGAATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37995
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092663 Nonsense 465 1102 13 26
Genomic Location (Zv9):
Chromosome 25 (position 6192278)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 5595711
GRCz11 25 5722227
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGCTGAATCAGTGGTGGTGATCAAAAAGCTTCTCCAGATGCAGCCCGAG[C/T]AGCACAGTGACATCATCAAACACATGGCCAAACTCATCGACAACATTCAG
Long Flanking Sequence:
TTAGCATATTTACCACATTGTTGACATGTTTTAAAATTGATTTGGAACATTGCTAGCATGTTTCAACACAATGTTAGCATGTTTTATACACTGATATCAGATTTTATTACCATGTCAGGAACATTTTCCCCACAGTACAAACATGTATTACCACACTGTTTAGATTTTACTACATTGTTAACATGTTTTAATATTCTTAGTAGCATGTTTCAATGCAATTTTAGCATTGTTAGATATTTTAGTAGATTTGAAAACATTTTTAATATGTTTTAGTATTGTTCGCTAGCATAGCACGTTTAGACCTTGTTATTATATTTAGCACATTAAGAAGATGTTGCTAGCATGTTTTTTACATGCAGTTAGCTTTTTACACGTTTTGCCATGTCAAGCATTATTTACTGTGTGATTTATGTGCTAATGCTGATAGTTGTGTGCTTTCAGAGTTAGTTGTGGCTGAATCAGTGGTGGTGATCAAAAAGCTTCTCCAGATGCAGCCCGAG[C/T]AGCACAGTGACATCATCAAACACATGGCCAAACTCATCGACAACATTCAGGTAGAGTTTTGATCTGAACTGTGAACTTTCACATATCAAACAGCCTTCGCAGACCTGACTGTGTGTGCGTGCGTGTGTGTGTCTCTCTCTCAGGTCCCGATGGCTCGTGCCAGCATCCTGTGGCTGATCGGCGAGTACTGTGAACACGTTCCCAAGATTGCCCCTGATGTCCTTCGAAAAATGGCCAAAACCTTCACTAATGAGGAGGACATCGTCAAGCTGCAGATCATCAACCTGGCCGCCAAACTATACCTTACTAACTCAAAACAGGTGAGTGGACCGAGACATGGGGCTGTGGTCAGCATCACAGAGGGGTTAATTTAGTGTTTTATGTTTAGTGTTTACATACTATTATATTTATAATTAATAGATAAGAGATCATAGAATTAGTTTAGGTTTATTGTATTATATTATATTATATTATATTATATTATATTATATTATATTATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10266
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092663 Nonsense 839 1102 21 26
Genomic Location (Zv9):
Chromosome 25 (position 6206706)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 5581283
GRCz11 25 5709204
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAATATAAACATGTATCATCTRTGTTTCTCAGTTGAACCGGCTCCAGCAT[C/A]GGCTCCGGTGACTCCAGTTAACTTCCTTTCCAGTAGTCTGGTGTCTGATC
Long Flanking Sequence:
AATTATAAAGCTCCCTTGAGGTAGAGTATTATAATGCGATTCACCTTCTGTTTGCGATTTGATTGGACAGGAACCACAGGACTGATTTTTCTAATCCCCAAAGACAAGAAAAAATACAGTAGTGACTGCAGTTTGAAGGAAAGTAGTGGAGTAAAAGTACTGATACTGCACTAAACATGCACACAAGGGAAAGTAAAAGTACACATTTTTAAAACTACTCCGTAAATTAGAATTCCTGAGAAAAACTACTCAATTACAGTAATTTAAGCATTTATAATTAGTTATTTTACACCACTGATTAAATGTTCTTGTTTCCTTCAGGCGCCCGTATCAAAACCACCTCCCAAACCATCCAAAAAAGAGAGCAAGAAGGAGAATAAAGAAATGTCTTTGCTGGATCTGGATGACTGTGAGTAAAACCACTGTACAAGACCTGAGACTCTAATGGCTGAATATAAACATGTATCATCTGTGTTTCTCAGTTGAACCGGCTCCAGCAT[C/A]GGCTCCGGTGACTCCAGTTAACTTCCTTTCCAGTAGTCTGGTGTCTGATCTGGAGGGTTTGTCACTGACCGACACTATTCTGGCCCCTACAGTGAGTCCTGCATGCGCCAAAATACAAATACATCTACATTGAGTCATCCATTCCCCAATAAATAAACACAGGGGGGCTAATAATTCAGGAGGGCTAATAATTCTGACTGTATTATTCATATGAATTTACTATTTTCTTGCAGACTATCGCACCATCCGGTTCAATAAAGATGTATGAGCTCCTGCACCGTATAACGGGCGAGGGTCTGGCGGTGGAGTACTGCTTCAGCAGGCAGCCCTTCAGTCCAGACCCCAACATGGTGGCCGTGCAGATCCAGTTCACCAACAACACCAACGCAGAGACCAAAAACCTGCACATCGAGGAGCCGCGGCTGCAGTCCGGCATGAGGATTCGAGAGTTCTCTGAGATAGGTCTGCAAACCGCCTCAGTATGAGCTCAAACCTCCACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32510
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092663 Essential Splice Site 946 1102 23 26
Genomic Location (Zv9):
Chromosome 25 (position 6209371)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 5578618
GRCz11 25 5706955
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTAGGCGCTTTTCTGTGACTTTATTTTTGTACCGTCTGCATTGTTCTTTC[A/T]GAGGTGTTAGCGGCGAATGAATCGGTTACCGTGGTGATGGGAATAGATTT
Long Flanking Sequence:
TAGCAACATACTAATTCATGTCAGCAAATTCATGTTAGTTGCTTCCTTTGGCAACATTATTCATGCTAGAAACATGTTAGTGGCATGCTAATTAATGTTAGTTGCATCTGTTAGCAACATTATCAATGCTAGAAACATGCTAGCAACATACTTATTCATGTTAGTTGCATCTGTTAGCAAGATTATCTATGCTATAAACATTCAGCAACATACTAATTTGTGTTAGTTGCTTCTGTTAGCAACATTATCCATGCTAGAAACATGCTAGCAACAAACTAATTCAAGTTAGCTAATTCATCTTAGTTGCATTTGTTAGCAACTTTATCCATGCAAGAGACAGGCTAGCAACATACTGTACTAAATAATGGTAGCGAATCGTGAATTCCTGTTAGCATCGTTACCATCATGTTATTTCAGATTAACAGTAGGTTATCCTTGGGCACTGTCTGTGTAGGCGCTTTTCTGTGACTTTATTTTTGTACCGTCTGCATTGTTCTTTC[A/T]GAGGTGTTAGCGGCGAATGAATCGGTTACCGTGGTGATGGGAATAGATTTCTGTGATTCTACGCAAGCAGCAAACTTCCAGCTGTGGTGAGTGTGTAAAGGCAGCTGAATTACACACTTCTGCTTCCTCACATGCACCTACAGTATGATGATGTGTACCGACAGTGAGAATAACTGAGGTTTCCTGAATGTTCTTCACTTCTAAACAACTAAAGCACATATGATATCTAAAATGTTTTCAGTAAATAGATGTTTTACATTTTTATTTAGATATACATGCTAAATTAATATGCACTAAATAATTGATGGAATACATAATTAAAATATAAAAATAATGAAAAATATTCACCTATTTATTAGCTAAACCTTACTAGTATCATGTTGGACCCCTTTTTGCCTTCAGAACTGCCTTAATCCTTTGTGGCATAGATTCAACAAGGTACTGGAAATATTCCTCAGAGGTTTTGGTCCATACTGACATGATAGCATCACGCAGTTGCT
Associated Phenotype:
Not determined