Busch Lab

ZMP

si:dkeyp-11a1.1

Ensembl ID:
ENSDARG00000076060
ZFIN IDs:
ZDB-GENE-081028-69, ZDB-GENE-090115-1, ZDB-GENE-090115-1
Description:
Diaphanous 2 [Source:UniProtKB/TrEMBL;Acc:A8DR44]
Human Orthologue:
DIAPH2
Human Description:
diaphanous homolog 2 (Drosophila) [Source:HGNC Symbol;Acc:2877]
Mouse Orthologue:
Diap2
Mouse Description:
diaphanous homolog 2 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1858500]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa42431 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa35741 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa19092 Nonsense Mutation detected in F1 DNA Not yet available
sa9480 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa42431
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000103298 Essential Splice Site 184 470 6 15
ENSDART00000147443 Essential Splice Site 173 640 5 16
Genomic Location (Zv9):
Chromosome 14 (position 40796953)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 39039725
GRCz11 14 39407723
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCTCGGACTGCTTTTGGATGCGCTGGAGAGGCTACTTGACAAGAAACAG[T/A]AAGTTATACTGGACATTCTGAAGCCGCTGTTTTTAAGCAATTCCCTTTCT
Long Flanking Sequence:
ACTTAATTTCACAAGGAAAGACACATTTTTCTTCTCTCAAATGCATAAATATTTTAGTTTTTCATCCTGAATCCCATCTGGTCGCACATATGTGGAAAATTCCTCATGTTATGCCACTAACAGAAATATGGAGAACAAAATCACACTATTTCTTCATGTTCTTGTCAAAGGTGGCACTTCTCTGAGAGACAGAGACTGACTCATCTTGTATATGATTCTGCGAGTGCCACAACCACCCTTACTATTGTCAATAAAACCTGAAAAAAGAATAAAAAAAGAAAGTAAAAATCCCACCATCTCCACAGTTGTGTAGAAGCTCAGCTCTTATTTTAAACCAAGCAATTCTAACCTTAAACGTGTTTGCAGTCTGCATGTTGGTTATATATTCTAACCCAGTTCTTTGCCTGTCTCTTTCTGTTTTTAGCTGGGTGAATAACTTTGGCCATGAGGGTCTCGGACTGCTTTTGGATGCGCTGGAGAGGCTACTTGACAAGAAACAG[T/A]AAGTTATACTGGACATTCTGAAGCCGCTGTTTTTAAGCAATTCCCTTTCTTCAGTGCTTTTTGGATTGCTCATTCATACTCTCTTATCTTTCTCTTTACTCACTGATTTTCTTTTTCCTCAGGCAAGAGAACATTGACAAGAAGAACCAGCATAAACTCATTCAGTGCCTCAAGGCCTTCATGAACAACAAGGTGTGTTTAGAATTTAAAAGCTCCGCCATGAGTAGTTTATATCATTTTGTGTCTCGCATGTGCCGAGTACAAAAAAAGTAGAAGAAATTTCGCAAAACAACTTATCAAAGAATATAAAATCACGCCGGGTCTTTACCTGTCCTTGAGAATGAATACATTTTTGATTGAAATGCTGCTGCTTTATTAAATAGGAGCAACACACACATGAAGCTCACTCAACTCTTGATAATTATCAGATTTAATATTTTCTAAAGCTGCTTTCATGCCTAAATGGTATTGACATTTTTTTTTTTTCAGTTTCAGTTTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35741
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000103298 Essential Splice Site 289 470 9 15
ENSDART00000147443 Essential Splice Site 278 640 8 16
Genomic Location (Zv9):
Chromosome 14 (position 40803489)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 39046261
GRCz11 14 39414259
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCTCCGATAGTGGAAGGGCTGGAGAACCACGAAGCCCAGCAGCTGCAGG[T/G]CAGTTTGCTGCCCTTTCCAAGTCTAACTAAACTTACACAGCTATATAAAC
Long Flanking Sequence:
AAAGTATAATCAGAAATACTGTGAAATCCCTTTCTCTGTTAAACATCATTTGGGAAATATTGAAAAAGAAAAATCACAAGAGGGCTAATAATTTTGACTTCAACTATATTTAGCTACTTCACTATTTTACTGTGAAAACTAAAGCATCATGTTGGCCCTGTTTCTTCTTACTAATTAGAACACTAGACTTGCTTTGTTATTGAACAACCACAGAGGACTGTAATTTTTACATAAAAGACTGCAACATTGTTTCTGGTCACTTGTGTGAACGTCTGAGACTGCTTAGACCATCATATCGGGTGATTTCTCCTAACCATTGTCATTGTCCTGTCTTGATAAAAAGCATGTTTACCTAAATGCATTGCTTTCTGTCAACTTGTTTTCCTTTAGTCTGGATAAGATCCTGGCAGCTATGACCATTGCAGCAGAAAGAAATAATAAGGAGAGGTTTGCTCCGATAGTGGAAGGGCTGGAGAACCACGAAGCCCAGCAGCTGCAGG[T/G]CAGTTTGCTGCCCTTTCCAAGTCTAACTAAACTTACACAGCTATATAAACTCTTGCACAGATGACTGCAAAAGCAATATTCATACTTACAGTAGACATTTTTGTTAAGAAGACTTATGTGACTAATGTGGAGCAAGTGTGGTGAAAATCTCAATATTCACTCCTTCTGGAACCTCTAGTACGTCAGAAAAAAATCCATGAGACAAAACTCTTTTTGATTAGATTTAAAAAATGTAATTTAATTTAATTTGATTTAATTTAATAAAAAAAATAATTTATTCATACCAACTGTGCCCCTGTGCTGCCATTTTTTATTTTTTTATTTATTTTATATTATAATTTTTTTATTTAAATAATTGTTTTATTATTTTTTGTTTTTATTTTTTCTTATTTTAGTTTTAATTTTTTATTTAATTATTTATTTATTGTAATATTTGATTTTATTTATATTTTTTATATAAGTTTAATTTTATTTATTTTTAAATTTAATTAAATTTATTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19092
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
ENSDART00000103298 Nonsense 292 470 10 15
ENSDART00000147443 Nonsense 281 640 9 16
ENSDART00000103298 Nonsense 292 470 10 15
ENSDART00000147443 Nonsense 281 640 9 16
Genomic Location (Zv9):
Chromosome 14 (position 40808585)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 39051357
GRCz11 14 39419355
KASP Assay ID:
2260-7826.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGAAAACAGGTGGCCTG[T/A]ATGCAGCTGATCAATGCCCTCGTTACCTCCCCGGATGATTTAGACTTCAG
Long Flanking Sequence:
CTGGCCGGCTCCCTGGAGCCACCTTATAGCCTGTTAAGAACCATCAGCACTCCTCCCTGCACACTGCCCCGTTCCGATAAATCAATTAAAAATACACATCTGTTCAGCCTGGCCTGCTCCCTTCCTCCATCCCTCCTTCCCCTGGACAGCTTTTCTAATTCACTCGCATCTTTTCCCTTCATTTTTATCCAGTTTTTCTCCTCCAGTTCCTCATCGTGCCAACTGCCTCGTTCCATCCTCATGAATTCATTTCATTTTATTTAATGTGATGTATTGATTTTTTTTTTGCTTTAAGATGAGAGATGAGAGCACTATGAATAAGAGGCTGTTGCAGGGCACTGCATTTTAATCTTTTATTGCCAAAGGGATGATTCTGAAGATTTGCTTGCATTAAATGATGATGATGATGATGATGATGGTGGTGGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGAAAACAGGTGGCCTG[T/A]ATGCAGCTGATCAATGCCCTCGTTACCTCCCCGGATGATTTAGACTTCAGGATACACTTACGAAATGAGTTTCTGCGCTGCGGCCTGAAAAAGATCCTACCAGTAAGTAAATCTTTTGCTTTATCTTTGATTTTTTAATTAAATAGTAATTACTTCATTTTATATTAATTTATATTAATTCATTGTAAATTGTGTTTAATTTTTTTGTTGCCTTTTAATAAATGCATTTATTTTTATTTTATTATTTATTTTGAATCACCAATGAAGTTTGCACTGCAGTCTTGAATTGCTACTTTTTTACTTGGTGTGTCATTTAACACTGGCTAATTAGTTATGACTTCAGCGTATTTATTGATTTGAAAAGAGGGTGGAGAGATTTAACCCTTTCACGTGTCAAGTTTATTACGTGACCCACCAGCTCCAATGATTTATGTATTCATCGATTTTGATAAATTTAGTCCTTTTCTGTAAATATTGACAAATGTTCTGATTATATTGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9480
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
ENSDART00000103298 Nonsense 292 470 10 15
ENSDART00000147443 Nonsense 281 640 9 16
ENSDART00000103298 Nonsense 292 470 10 15
ENSDART00000147443 Nonsense 281 640 9 16
Genomic Location (Zv9):
Chromosome 14 (position 40808585)
Other Location(s):
Assembly Chromosome Position
GRCz10 14 39051357
GRCz11 14 39419355
KASP Assay ID:
2260-7826.1 (used for ordering genotyping assays)
KASP Sequence:
NNNNNNNTGNNTGTSTGTGTGTSTGTGTCTGTGTGTGAAAACAGGTGGCCTG[T/A]ATGCAGCTGAWCAATGCCCTCGTTAYCTCCCCGGATGATTTAGACTTCAG
Long Flanking Sequence:
CTGGCCGGCTCCCTGGAGCCACCTTATAGCCTGTTAAGAACCATCAGCACTCCTCCCTGCACACTGCCCCGTTCCGATAAATCAATTAAAAATACACATCTGTTCAGCCTGGCCTGCTCCCTTCCTCCATCCCTCCTTCCCCTGGACAGCTTTTCTAATTCACTCGCATCTTTTCCCTTCATTTTTATCCAGTTTTTCTCCTCCAGTTCCTCATCGTGCCAACTGCCTCGTTCCATCCTCATGAATTCATTTCATTTTATTTAATGTGATGTATTGATTTTTTTTTTGCTTTAAGATGAGAGATGAGAGCACTATGAATAAGAGGCTGTTGCAGGGCACTGCATTTTAATCTTTTATTGCCAAAGGGATGATTCTGAAGATTTGCTTGCATTAAATGATGATGATGATGATGATGATGGTGGTGGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGAAAACAGGTGGCCTG[T/A]ATGCAGCTGATCAATGCCCTCGTTACCTCCCCGGATGATTTAGACTTCAGGATACACTTACGAAATGAGTTTCTGCGCTGCGGCCTGAAAAAGATCCTACCAGTAAGTAAATCTTTTGCTTTATCTTTGATTTTTTAATTAAATAGTAATTACTTCATTTTATATTAATTTATATTAATTCATTGTAAATTGTGTTTAATTTTTTTGTTGCCTTTTAATAAATGCATTTATTTTTATTTTATTATTTATTTTGAATCACCAATGAAGTTTGCACTGCAGTCTTGAATTGCTACTTTTTTACTTGGTGTGTCATTTAACACTGGCTAATTAGTTATGACTTCAGCGTATTTATTGATTTGAAAAGAGGGTGGAGAGATTTAACCCTTTCACGTGTCAAGTTTATTACGTGACCCACCAGCTCCAATGATTTATGTATTCATCGATTTTGATAAATTTAGTCCTTTTCTGTAAATATTGACAAATGTTCTGATTATATTGTG
Associated Phenotype:
Not determined