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