Busch Lab

ZMP

appl2

Ensembl ID:
ENSDARG00000078139
ZFIN ID:
ZDB-GENE-081016-2
Description:
DCC-interacting protein 13-beta [Source:RefSeq peptide;Acc:NP_001121547]
Human Orthologue:
APPL2
Human Description:
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 [Source:HGNC
Mouse Orthologue:
Appl2
Mouse Description:
adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 Gene [Source

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa44227 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa37994 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa44227
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:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112853 Essential Splice Site 384 662 14 21
Genomic Location (Zv9):
Chromosome 25 (position 6034474)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 5670354
GRCz11 25 5796861
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTAAGCGGAGAAGCATCAATCATTAGTATAAACTGTGCTGTTGATTTCA[G/T]GCTGTGGCGATCAAGCTCCATCAGACAGCTCTGCAGGCCGTGACTCCCAT
Long Flanking Sequence:
GGAGCCTCCAGATGGAAACTGTTGTTTTGTGTTTACCTTATGATTAAAGTTGTTGCATGTCCACTCTGAATGAGTGAGTTTTAGCTACTTGTACATTTAAGGAAGCATTCAGAAGAAACAAAACACCAGTGAAGAAACTCGACACAGAAGAACATGAAAACGGATGATCACTCAATGCAGAAGTATAAACCAGCCTTTAATCGCACCGCAATATACTTTGGGTTGATTGAATGCTTGATTCTGATTGGCTGATAAACATTCTGATGTGTGCAGTTATTTTCTTAATGTTCAATGGCTTGTCGTCAGTTCTCATTGTTCCTCATTTGTTTGTGTCTACAGTGGATTTGCACCCTGAACAACATTTCCAGACAGATTTATCTGACCGACAATCCTGAGGTATTAATAAATCTGTCTGTCGATCTTTAATCTAGTTAAGCTTTTAAATGTCACTTTAAGCGGAGAAGCATCAATCATTAGTATAAACTGTGCTGTTGATTTCA[G/T]GCTGTGGCGATCAAGCTCCATCAGACAGCTCTGCAGGCCGTGACTCCCATCACCAGCTTCGAGAAGAGAGCTGAAGGATCTCCAAACCCTGACAGGTAGATAACAACACCTCACGCACATCTCCATATACTCATCCCAATAATCACTTGATTAAGTCAGCGCTGTGTTTGGGGTAGAGCGAAGCCTGGTGGGCTCCCCGTGACCAGTCAAGAAGCTGAGAAATCCTCCGTCAGCCTGGAGCCTGAAGATCTGATTGTTCCAGGAACACCCATACAGTTCGACATCATGCTGCCCGCGTCTGAGTTCCTGGACCAGAACCGAGCCGGAGCCAGGTCACAATACACACAATACAGTGCTGTCAAAACAATCAGTGTTTACATATGTGTGTATATTTGATATAATATGATGTCACTTCGTCAACGAATAAAGATTCATTCGTTCACTTACTCATCCACACACAATCACTCATTCATTCACTTACTCATTCACTTTCTCAATTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37994
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112853 Nonsense 606 662 20 21
Genomic Location (Zv9):
Chromosome 25 (position 6028715)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 5664595
GRCz11 25 5791102
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCACACTCTACCTCAGCTCAACTCCTGCTGTTTCTCCTCAGATCTGCTA[C/A]ACCATCAACCTGGCCAAGGAGATCGCAGACGCCCGGAAGGTAAAAACACA
Long Flanking Sequence:
TACAAATATAATTTTTTTTAAATTTAAAGATGTTAAAATAACATATTTTTATAACATATATTATATAAAATTAGCAACAAACTAGATTTGTTAATCTGTGTGTGTGTGTGTGTGTGTGTNTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNTGTGTGTGTGTGTGTCAGTTCCAGCTGCAGGATGTGAGTGAGTTCGCAGCTCATCAGGAGAACGAGCGTCTGATGGGGTTTGTGGTGAGGAGCTCAGCTGAAGATGACGAGCCCTCCTTCAGTGTGTTTGTGTTCGAGAGCAACACTGAAGGAGAGAAGGTGAAAAACACACCAGCACACACACACACACACACCTCACACTCTACCTCAGCTCAACTCCTGCTGTTTCTCCTCAGATCTGCTA[C/A]ACCATCAACCTGGCCAAGGAGATCGCAGACGCCCGGAAGGTAAAAACACACTCCAAACATCCTCATTCATCCAAACATCATTCCACCACAGAGGTGAAGGGTTAGTTCATTTAAAAAAAATGTAAATACCACAAGATTTGTAGATTTAATAACTTAAATTTTTTAGTTTTTATGCCCCAAAATGAATCCTGATGAACACAAAACGCACATTATTCAACATGTGTTACTGGAGGGAAAGTAGTGTTGTTCATTGTTATCAATATATTGAATAATCGTGTGTGTGTTTGACGTGTGTATCAGGATCCTGAAGCTCTGGCTCAGCTGATGAAGTCAATGCCACTCACCAATGACGGAAAGTTCCTGTTGCTGGACAACGAGACCGGAGACACCGCAGAAACAGCCGGACAAGAAGAGCAGGAGTCAGAGGCTTGATACACACACACACACACAGAACACACACTCATTCACACTCATTCACACACACACACACACACACACAC
Associated Phenotype:
Not determined