asap1

Ensembl ID:
ENSDARG00000039729
ZFIN ID:
ZDB-GENE-091112-16
Human Orthologue:
ASAP1
Human Description:
ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 [Source:HGNC Symbol;Acc:2720]
Mouse Orthologue:
Asap1
Mouse Description:
ArfGAP with SH# domain, ankyrin repeat and PH domain1 Gene [Source:MGI Symbol;Acc:MGI:1342335]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa24454 Essential Splice Site Mutation detected in F1 DNA During 2014
sa1723 Nonsense Confirmed mutation in F2 line During 2014

Mutation Details

Allele Name:
sa24454
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:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000030409 Essential Splice Site 337 1156 11 30
ENSDART00000131204 None None 350 None 8
ENSDART00000144372 None None 223 None 4
ENSDART00000145466 Essential Splice Site 336 1140 11 29

The following transcripts of ENSDARG00000039729 do not overlap with this mutation:

Genomic Location:
Chromosome 24 (position 10719765)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAAGAGTTTGGCTGTGAGAAGAAAGGCTATCTGTTAAAGAAGAGTGATGG[G/A]TACACGCATATACACACACTCAATTTTACATGTGGTTTCTGATCGTTCTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1723
Current Status:
Confirmed mutation in F2 line
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
ENSDART00000030409 Nonsense 991 1156 28 30
ENSDART00000131204 Nonsense 314 350 8 8
ENSDART00000144372 Nonsense 190 223 4 4
ENSDART00000145466 Nonsense 975 1140 27 29

The following transcripts of ENSDARG00000039729 do not overlap with this mutation:

Genomic Location:
Chromosome 24 (position 10679627)
KASP Assay ID:
554-1669.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CACAGCCTTCAGAATTACCACCTAAACCAGGAGAACTGCCTCCAAAGCCT[C/T]AACTGTCCGAACTTCCCCCTAAACCCCAGTTGGGTGACCTACCACCTAAA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Multiple sclerosis: Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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/w40xqo37