Busch Lab

ZMP

ddx43

Ensembl ID:
ENSDARG00000022614
ZFIN ID:
ZDB-GENE-080204-77
Description:
DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 [Source:RefSeq peptide;Acc:NP_001108061]
Human Orthologues:
DDX43, DDX53
Human Descriptions:
DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 [Source:HGNC Symbol;Acc:18677]
DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 [Source:HGNC Symbol;Acc:20083]
Mouse Orthologue:
Ddx43
Mouse Description:
DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 Gene [Source:MGI Symbol;Acc:MGI:3642857]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa24934 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa35499 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa24934
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000044652 Essential Splice Site 135 405 2 11
ENSDART00000101479 Essential Splice Site 135 719 2 17
Genomic Location (Zv9):
Chromosome 13 (position 27576330)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 27221990
GRCz11 13 27352440
KASP Assay ID:
554-7311.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGTGCGAAAATACGAGAGCTTCAAGAGAGCAGTGGAGCATCAATAAAGG[C/T]AAGTTAAATACATGAAATCTCCCAAAAGTCTGTTTAGTAACAAGCTCAGA
Long Flanking Sequence:
TGACGTAAATTAGATTAGATCTGAATTATTGACTAACTGGAGCCAAATATTGACAATCTAGAGCCATAAGTTTGTACAAAAAGGATTTTTGAGTATCTCGTTATCATCATTTCATAATTCAAGAACGTAAAATGCTGCGTAAAATCAGGCACGTTATGTATGAAGTCTCAAAAACATCCAGAATATGCTTAAAGAATAAGACTCTTTTATTTTGTCTGCTCCACAGTGTCTCACCACCCTAAGGGATTTTGAGCAGGTTTGCATACATTATGTGACAAAATAAGTAACTTAATTTTAACGATACCTTTGGTGCTGCGATTGTTGAATCGGGTTTTAATTGTTTTTATGAAATGGTTCATGTGAACTAGTTAACAAGTAATTTGGTCAAGTAACTTCTAATTAAGAAGTGATTTGGTCTGTATTATTTCTGTTTGTCGTCTTAGGTCGAGGTGGTGCGAAAATACGAGAGCTTCAAGAGAGCAGTGGAGCATCAATAAAGG[C/T]AAGTTAAATACATGAAATCTCCCAAAAGTCTGTTTAGTAACAAGCTCAGAAGAACCTGTATTTGCACACTAGATAAAACTTTAGACTTAAGGTAAGTTCCAGTTATTTGAATAACATTATTTTCTGGTATTTGCCGAAAATGATATTATCAGTTAGTTTTAATTTGTCCAAAAATGACTATATACATCCCATTTTTTCTTTTTACAATACAGTTTTCTCTCATTTATTGGAAGGAAATTAGGGATGCACCGATATCGATACCAGTGTCGGGTATCAGGTCGATACTTGGTTAAAATACTCATACTCGTATCGTACATGAAAGGTTGATACCATGCACTGATACCACTCAACAGTAATTCACTACATGATGTGATTTGTTGTCTTACCTGACTTCAATGTCCTAATGTATTAATTAGCCTAATGTATTTTATATTAATAGCTTAGTCCAGTGGTTCTCAAACTGTGGTACGCGTACCACTAGTGGTACGCGGGCTTCCTCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35499
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000044652 None None 405 None 11
ENSDART00000101479 Nonsense 454 719 10 17
Genomic Location (Zv9):
Chromosome 13 (position 27565256)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 27210916
GRCz11 13 27341366
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTTGGACATGGGATTTGAACCTCAAATCATGAAAATCATTCTGGATATT[C/T]GACCAGACAGGCAAACGGTTATGACTAGGTGATTTATTTGATACTTGAAA
Long Flanking Sequence:
GAGTTCGTTTCAATCGAGCTGAGACCACCTCATTCAAGCGATCTCGGAGTGATTATTTTGGCGCGGATCCGAGCTTGATTGGTGGTTTCATATATGCCAAGCGAACCGCGCTAACTGGGCAAACGTGACAGGTTCCGAAACATAAGTATAGGTGTGAAAGCACCCTAAGACAGGTCTTCGCACAGGCGATGGATGTGAAAAGTAATCGAAAGCTTAGAAAGGCAAAACTGCTTTGTTGCAGTTTTTATTAACAAACCAAAATTAATAATGTATATTCTGAACCGTGGATCACAGGGCGCAACGAACCGTGGGAGGACAATGAGACTGCGTTTTTTTTAGTTTTTTTTTTGACCAAGAACCGTTGCATCTCTAGTGTCTTTGATAAAAATAATTTTGTGTATATGCAGTTTTTCTTTCTCTTTTTCCAGGTGTTGGATGAGGCTGATAGAATGTTGGACATGGGATTTGAACCTCAAATCATGAAAATCATTCTGGATATT[C/T]GACCAGACAGGCAAACGGTTATGACTAGGTGATTTATTTGATACTTGAAAAATATCTTGATTGCAGGTAGAACAGGGTATTCTCTTTTTTTTAAATTTTGTTTCATTGGTCAGTGCTGGCAACTTTTTTTAATGAAAAGGTGGTAAGCTCTGCCCGAAAAGTTGCTAAATGTTGCTAGATTACTTCAAATGTCAATTTGCGTATTACTGACGTCAGCAAGTACAACCGTTTCTGTTTGTTTTACAGCCTATGGCTAATAAAGGTTTTTTTAATGTGCACTACGCTTTATGTATGCATGCCAATTTGACTAAATTATTGCTGTTTGAATACAGTATGTCAGTATAGATGTGTAGTAAATTTGCAGTAATCTCACAGACGTAATAAACCAAAACTGTCACTAAAATGTCTGTGATTGTGAACAAGAAAAACGGTCAAAGAAAAAGTCTGAAAAGTTGCTGAATATAGTGACAAAGTCGATAAGGTGACAACACTAGCGTTAG
Associated Phenotype:
Not determined