Busch Lab

ZMP

abch1

Ensembl ID:
ENSDARG00000071341
ZFIN ID:
ZDB-GENE-050517-42
Description:
Novel ABC transporter domain containing protein [Source:UniProtKB/TrEMBL;Acc:Q1LYA9]
Human Orthologue:
ABCA3
Human Description:
ATP-binding cassette, sub-family A (ABC1), member 3 [Source:HGNC Symbol;Acc:33]
Mouse Orthologues:
Abca14, Abca15, Abca16, Abca17, Abca3
Mouse Descriptions:
ATP-binding cassette, sub-family A (ABC1), member 14 Gene [Source:MGI Symbol;Acc:MGI:2388708]
ATP-binding cassette, sub-family A (ABC1), member 15 Gene [Source:MGI Symbol;Acc:MGI:2388709]
ATP-binding cassette, sub-family A (ABC1), member 16 Gene [Source:MGI Symbol;Acc:MGI:2388711]
ATP-binding cassette, sub-family A (ABC1), member 17 Gene [Source:MGI Symbol;Acc:MGI:3625331]
ATP-binding cassette, sub-family A (ABC1), member 3 Gene [Source:MGI Symbol;Acc:MGI:1351617]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa13734 Essential Splice Site Available for shipment Available now
sa16904 Nonsense Available for shipment Available now
sa23078 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa13734
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
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Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105435 None None 232 None 8
ENSDART00000105437 Essential Splice Site 41 146 None 3
ENSDART00000135086 Essential Splice Site 47 705 None 19
Genomic Location (Zv9):
Chromosome 17 (position 24392693)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 24546135
GRCz11 17 24564536
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AACTTAAAGTTCTCAACAATCTCAACCTGACATTACCTCAGGGTCAAATG[T/A]GAGTTCAGCATTTTCTGTTTCGAAATGTGTTWACARATGCTGCGCCAATT
Long Flanking Sequence:
TTAAATATTATGATTTAAATGTGCAGCAATTGAGGTGAGATTCTGTGAAAAGAAAATGAGAGATTACAGATTGCAGTGCTGATGACCCACTTTGCTCCATCCGGAAAGGGGATGGTCAGTTGCAGAATCTGTGCTGTTTCTTAGAAACCAATGTAAGGATCACAGAAAAGGCATCATATTTTGTTTCATCTTAACAATATAAGTGCATGTCATTGTTCCAGACAGCAGCACAAAGACATTTCTTTGTATGCTTTTCAGGAAGTCTGCAGTAACTATTGTAAATCTCATGTTTATCTTAGTTTCTTTAAATATTAACCTGTTGTAATATGTAACTCTTGTATTCTTCTCTTTTTATGTAGAGCTTGGAGAGTGGGACTATGAAGACTGACTTGGAGGCTGGGAGTTTCAGCGCTGCAATCCACTGCCACGATGTGTGCCGTTCATACGGGAAACTTAAAGTTCTCAACAATCTCAACCTGACATTACCTCAGGGTCAAATG[T/A]GAGTTCAGCATTTTCTGTTTCGAAATGTGTTTACAGATGCTGCGCCAATTATGCATTTTCACTTTAAGCAGGAAAAACTGCCTAAAAGCTGACATGTCACATGCATGCCTTCATATATCACATCAAAACCCTTCAAGAAGTTGATGTAATATTGAGATTTACATCAGCTTATCTCATTGCCTGTAGTGTTATCACATTGTTATGATCTGCTGCAGTGCTGATAAGCCTTATCCGAGCGATGTGTATTGTGTAAGTGTTTGTTTCCTTTTCCTAAAGTAACGCTTAGTTGACATTTGTTTAGCTGTCTGAAAAGAAGTGGATCAGATTATGTTTGTAAAACTGCAGCTTTCCAGAAATTCCATTCAAAACATTGTGACTGGTCTTGCAAACATTAATTGGAAGGAGATTTTTAAGAAAGACAAAAAATGATTCGGGACACATGTATTTTTATGCTTTGTCCTATTCTTTTTATTCATGCCTTGTATTTTAAAATATTTAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16904
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105435 Nonsense 72 232 2 8
ENSDART00000105437 None None 146 None 3
ENSDART00000135086 Nonsense 432 705 10 19
Genomic Location (Zv9):
Chromosome 17 (position 24380990)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 24534432
GRCz11 17 24552833
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGGGAATACTGGGGAGTCATAGAGTTTGGAGAGAATTTCACCAGCTATT[T/A]AACTAAAAGGTAAGCGCSAGTGTTTYACAAGTTTGAAATGTTCAACCTGA
Long Flanking Sequence:
CATAGACCAAATGTTCATCTATTGTCACTATATCTAGAAATATTTTTGTAATGAAAAAACAGTGCACTCAGTACTGCTCATAATCAAACTTCACATCTTAGGCCATTTATATGATATAAATATACATTTAGCAGAAATACTGTTCAATCATGTTTACCGCAGATGTTATTTTACCCTTAAACTAAAAAAATCTCACAAGAAATTCTAGAACGCATCTTAAAAAAGAATAGAAAGTTTGCAGGCTCCTTTCAATTCCTCTTTTCTCTGTATCACTTCAACAAATTAATGAGGAACAAAAACAGATTTAAAATAGGGTAGATTTTAGATTTAAAATAGATATAGAAAGTGTATATTTATTTTCAGCCTTCATTTATAGATTGGAGAACGCTTTCCTTTTTGCTTTCTGCAGGTTAGCTTGTCTCATTCAGATGCTTTTGATGGTATTCGAAATGGGGAATACTGGGGAGTCATAGAGTTTGGAGAGAATTTCACCAGCTATT[T/A]AACTAAAAGGTAAGCGCGAGTGTTTTACAAGTTTGAAATGTTCAACCTGAAAGAAGATGTTTTGTTTTATAGAATGCCACTGTCCTAAATACTCACCTTGAGAAATATACATTTTCTCCAGGTTAGTTCAAAAGTGTGATTCATTAAGGAATTAGAAATTGAAAATGTGGCGCAGTGTTGGGAGAAATTACTTTTAAAAGTAATATATTAAAATCTTAAACCCAGCTGAGATGAAAAAATGCAAAAATAAAATAACACATTACTTTCCTTAAAAAGTAATAAATTAACACATTTAGTTGCTTTTGTAAGTGACTGCAGATTGTAATATACTACCCTTAAAAGTAATATTCCCCAACTCATTAGGTTATCAATCAAGTCTCTTTGCTATGCTTCTTAATGCGTCACAGTTGTTCTTACATGCAAATTTAACCATCCATCCTATTAACTTCAAGGTTCACTTTCCCCAGCTGATCAAATATCTCACACCACAGACAAACACC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23078
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:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105435 Nonsense 185 232 7 8
ENSDART00000105437 None None 146 None 3
ENSDART00000135086 Nonsense 545 705 15 19
Genomic Location (Zv9):
Chromosome 17 (position 24378421)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 24531863
GRCz11 17 24550264
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTCTGTCTTTTGTGCTAGAGAGGAAGGAGGGTCTGTTAGACAGATGCTG[G/A]GTGGCAGGTGAGATAGCTCACATCCACCAGATACCCATCATTTCACATGA
Long Flanking Sequence:
GTATACACCATGATTCCATTAAAAATAAAATCACTTTAAAGTGTGATATGACTTAAAAGGGGTCCCAGAAACGGTATTCCATACGTCACGACTTAACAAGTGGAATAGTTTTTTATCCTTATATTCTTTTTTATATTTTGTTGTTGTGTTTTCTTATTCTTTCCTTTTAAAACGGCTTTCTATTTTTGTTTAATGTTTATTTGTAGTTTGAAGAACCTATATACGGCAGTAAGAACACAGATTTCACAACATTTGTTACTCCAGGAGCTGTTTTGAGGTAAGCACGCATGCATATTCACTTGCATAAATGAAATGATTTTCACATTTGTGCACATACACACCCTTACAACCACAGATAAGTGTTACTACAGTGTCTAAATACATGATGAAACTGTTTCTGCTTTTCTTTCTCGTTTTAGCATTACGTTTTATCTGGCTGTGGGGTTGACCGCTCTGTCTTTTGTGCTAGAGAGGAAGGAGGGTCTGTTAGACAGATGCTG[G/A]GTGGCAGGTGAGATAGCTCACATCCACCAGATACCCATCATTTCACATGAATCACTATACAGTTGAATGGAGTATTTGACATTGTGTCATGTGATGACTACCGACAAATGAAACAAATAAGTAGACATATTTAAAGGAGAAGATTCACTGCAAACTCACAGTGCGTTAATCCAACTTGAATGAGCAATTTAGCCAGTTTACACAAATATGTGTAGCCCAGATTGTGTGTGTGTTTTTGTTTGGGATGGCAATTAGAATAAGTGGACAAAATGTAGTTTTATCAAATTTAGCCCTTACACTTTCTTCAAGAATTCATAAATGAGCAGTTGTAGAGATTTACCAACAGGGGGAGCTGATCACCTATATCATCAAAAGCCACTAACAGACGTTATAAGTCCCCATGAAATCAACTTTGTAATTTTTTAGCCATTTGTTGTGAATATGTTTGCCTTTAAGCAAATACATTCCAAAGCAATAACAACATTTCTATTTAGAAGATA
Associated Phenotype:
Not determined