abca12

Ensembl ID:
ENSDARG00000074749
ZFIN ID:
ZDB-GENE-030131-9790
Description:
Novel protein similar to vertebrate ATP-binding cassette, sub-family A (ABC1) family [Source:UniProt
Human Orthologue:
ABCA12
Human Description:
ATP-binding cassette, sub-family A (ABC1), member 12 [Source:HGNC Symbol;Acc:14637]
Mouse Orthologue:
Abca12
Mouse Description:
ATP-binding cassette, sub-family A (ABC1), member 12 Gene [Source:MGI Symbol;Acc:MGI:2676312]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa18961 Nonsense Mutation detected in F1 DNA During 2014
sa9840 Nonsense Available for shipment Available now
sa2502 Nonsense F2 line generated During 2014
sa3714 Nonsense Mutation detected in F1 DNA During 2014
sa8351 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa18961
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109197 None None 674 None 16
ENSDART00000138634 Nonsense 133 1809 4 36
ENSDART00000109197 None None 674 None 16
ENSDART00000138634 Nonsense 133 1809 4 36
Genomic Location:
Chromosome 9 (position 41833750)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCACAGCGAACATGACAGTCCTGTTAGAGAAAAACAAGTTTATCATGGAC[C/T]AGATCACCACCCTCTCTGTGCTCATGATGAACCTCTCCTCCTGTGTCAAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9840
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109197 None None 674 None 16
ENSDART00000138634 Nonsense 133 1809 4 36
ENSDART00000109197 None None 674 None 16
ENSDART00000138634 Nonsense 133 1809 4 36
Genomic Location:
Chromosome 9 (position 41833750)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCACAGCGAACATGACAGTCCTGTTAGAGAAAAACAAGTTTATCATGGAC[C/T]AGATCACCACCCTCTCTGTGCTCATGATGAACCTCTCCTCCTGYGTCAAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2502
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109197 Nonsense 5 674 1 16
ENSDART00000138634 Nonsense 1116 1809 21 36
Genomic Location:
Chromosome 9 (position 41794411)
KASP Assay ID:
554-3014.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGCCAGGATTAATTTATGCTTTTTTNGTGCTTTGTTTCAGATATGGAGGCT[G/A]GGAGTTTGGAAAGCCTCTTCCCATTGATCTTAAGATGGACATGTTAGAYG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa3714
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109197 Nonsense 62 674 2 16
ENSDART00000138634 Nonsense 1173 1809 22 36
Genomic Location:
Chromosome 9 (position 41793751)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCAACAGCCTTAACAACTTTTTCCTGAGATCCAGTTTGCCAYCTGAGAAA[C/T]GATATCAATACGGTTAGTTCAATCTCTCAYTAGTACTTTAAAAGTCCWGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8351
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109197 Essential Splice Site 662 674 15 16
ENSDART00000138634 Essential Splice Site 1778 1809 35 36
Genomic Location:
Chromosome 9 (position 41761601)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGTTCTGCAAATYAAACACTTTTCAGTCAGCCAGACCACGCTGGATGAGG[T/G]AAGATACATAAGCTGTCTAGCAGAAAGAGTTTTTTTTKRTCAATATTTAT
Associated Phenotype:
Not determined

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/z0da6jk0