ZMP

ddx46

Ensembl ID:

ENSDARG00000094863

ZFIN ID:

ZDB-GENE-030131-667

Description:

Probable ATP-dependent RNA helicase DDX46 [Source:UniProtKB/Swiss-Prot;Acc:Q4TVV3]

Human Orthologue:

DDX46

Human Description:

DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 [Source:HGNC Symbol;Acc:18681]

Mouse Orthologue:

Ddx46

Mouse Description:

DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 Gene [Source:MGI Symbol;Acc:MGI:1920895]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa15606	Nonsense	Available for shipment	Available now
sa37388	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa37389	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa15606

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:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000099265	Nonsense	274	1035	7	23

Genomic Location (Zv9):

Chromosome 21 (position 44362571)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	45585869
GRCz11	21	45721815

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AGAAGATGCCGCACGCCACCAAGAARAAGGGGGAGCTGATGGAGAACGAC[C/T]AGGAYGCCATGGAGGTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNACACACACACANNNNNNNNNNNNNNNNNNNNNNNNNNNNCACACTACT

Long Flanking Sequence:

GGGCACTATGAAGGGAGCAAACGACAAGGTGCGTCTCCACTGCAGCGCTGCACCCACACACCCTCAGTAGTGAAGCTGCCCGTGTCAGATGAGACCAAAAGGAGAGGAGATGTTTTGAAGAATGTTGGAAACCTTACATAGCAGTAAAGTGAATGGTTACAGGTTTCCAGCATTCTTCAAAACATCTTCCTTGTGTTCAACTACAGAAACTCAAAGGGTTGTGAACACATGAGGGAGAGTGAAGAGTGTGTGAAGACTCATGTTTGAGTGAACTGCACATCATGTTCATCAATTAACCCATGATGCAGCGTCAACACACTCTTCCTCATCAGTAAACGAGTGTTAATGACTGACGTGACCTCACACACACACACACACTCACACACACTGATCTGTGTCTGCAGAAAGGAGGGATGTCTGTGACCAAAGTGGTGACGGTGGTGAAGACCAAGAAGATGCCGCACGCCACCAAGAAGAAGGGGGAGCTGATGGAGAACGAC[C/T]AGGACGCCATGGAGGTACACACACACACACACACACACACACACACTACTGCTCCATTACACACACTGCTCCATCAATACAGACACTCTGCTCACACTGTTTTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCGTGTTTTTGGTTGTGTGTGTGTTTCTGTGTGTGTATGTTTCTGGTTATTTATATGTGTGGTTGTTTATATATTTGTGTGTGTGTGTGTGTGTTGTGCAGTATTCGTCAGAGGAAGAGGAAGTGGACCTCCAGACGGCGCTCACAGGCTTCCAGACGAAGCAGAGGAAGGTTCTGGAGCCGGTGGATCACCAGAAGATCCAGTACGAGCCCTTCAGGAAAAACTTCTATGTGGAGGTGCCGGAGCTGGCCCGCATGAGCCCTGAAGGTCTGCTACACACACACACACACACACACACACACACACACACACACACACACACACACA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa37388

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
ENSDART00000099265	Essential Splice Site	582	1035	None	23

The following genes are also affected by this mutation:

ENSDARG00000053439

Genomic Location (Zv9):

Chromosome 21 (position 44367502)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	45580938
GRCz11	21	45726746

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GCAGGTGGGCGGACGGAGCGTGGTGTGTTCAGATGTGGAGCAGCATGTGG[T/G]GAGGGAGCACACACACACACACACACACACACACACACACACACACACAC

Long Flanking Sequence:

TGCAGTATAAAACAATGGAAGCCTATGTAATGTCCCCACAATTCACAAAAACAAATTTGTGTGTGTGTTCAGGTCGGGTCACTAATCTGCGCAGGGTTACATATGTGGTGATCGACGAGGCTGACCGAATGTTCGACATGGGCTTCGAGCCGCAGGTCAGTCACCTGTGTGTGTGTGTGTGTGTATTTGTGCGGGCGTGCGTGTGTGTTTATAATGTTGATTCATGAACACACTCGTGTCCAATCTACTGAAATTTGACTGATCCCTCTGTGTGTCTGTTTCTCTCGCTCACGCTGTCTGTGTATGTGTGTGTCTCTCTGTGTGTGTGCCTCAGGTGATGCGTATCGTGGATAACGTGCGACCCGACCGTCAGACCGTCATGTTCTCCGCCACGTTCCCCCGCACCATGGAGGCTCTGGCCCGCAGGATCCTGTCCAAACCTGTGGAGGTGCAGGTGGGCGGACGGAGCGTGGTGTGTTCAGATGTGGAGCAGCATGTGG[T/G]GAGGGAGCACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACTGATTGGTTATTTAGCAGCAAATGATTCAGCTATTGTCCGTTTGGTGTGGTCATGTGTAGCTGATTGGTCCAGACAGAACCAGACGTGAGCTGACAGCACAGTTGTGTTTGATCAGTGACCAGCCTTACACACAGAGAAATACAAACCAAACACAAACGCACACAAACGGACACACACTGGGTTCACATCAAACATGGAAATAAGTGTTCACAAGTTACATACAGACATAATAAAATAGACATAATATTTACATACGCACATACATTTATTTATATTTATTTTGTCTGAAAGCTGTCATACGAGTGATCCGCTGATGAATCGCGGCTTTATATGCTCCAGTGTGCCTGTTGTTTTGGTAAACAGCTGTGAGTTCGGTGAACCTTTATGGTCAATCACAGTCATTTCTGTTGAGCTTGTAAACACAACAGC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa37389

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 > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000099265	Essential Splice Site	797	1035	None	23

The following genes are also affected by this mutation:

Genomic Location (Zv9):

Chromosome 21 (position 44370243)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	45578197
GRCz11	21	45729487

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GGCGGCGCTCGGCCTGCACGACTCTGATGATGAGGACACCGCGCTCGACG[T/C]GAGTCTCCGTGTGTGTGTGTGTGTGTGTGTGTGGCACTGTCTGTATAACG

Long Flanking Sequence:

TCCTGAAGGCTCTGGAGCTGTCGGGATCGTCCGTCCCCGCGGAGCTCGAGCAGCTCTGGACAAACTTTAAAGAGCAGCAGAAAGCAGTAAGAGAACAGCAGCATCAGCACAGCTCAACACAGAGCACAGCACCACTGATGGAGAGAACACCGTCTGCTTTCTGTTACTCGTTTAAACATGCGCTGCCTAATTAAACATGCGCTCATTTACATACATGCATGCAGGACACGCCTGTAGACGCTGGAGGACAGCATGATGCACTTGACCAGTTTTAGTGAAGGTGTTTACTGATGTGTGTGTGTTTGTTTTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCGTCAGGAGGGGAAGATCATCAAGAGCAGCAGTGGCTTCTCTGGGAAAGGCTTTAAGTTTGATGAGACTGAGCATGCTCTGGCCAACGAGAGGAAGAAGCTGCAGAAGGCGGCGCTCGGCCTGCACGACTCTGATGATGAGGACACCGCGCTCGACG[T/C]GAGTCTCCGTGTGTGTGTGTGTGTGTGTGTGTGGCACTGTCTGTATAACGGTGTGTGTTTGACTGGGTGTGACTGTCTGTATAATGGAGTCTGTGTGCGTTTGATGGGGTGTGTGTTACACTGTTTCTGTGACTGTCTATATGGTGTGTGTGAGACTGTGTGTCTGACGGTGTGTGTGTGTGTGTGTTCTCTGACAGATCGATGAGCAGATCGAGAGCATGTTTAACTCTAAGAAGCGGGTGAAGGATTTCTCGGCTCCGGGCTCCGTGTCTGCGGGGTCTGCAGGTGGTGTGAGCGGCTCCGTGTCTGCAGTGTCCGGCCTGGGCAGTCTGAGCACTCCGTCTGCCGGAAACATCCAGAAGCTGGAGATCGCCAAGAAGCTGGCGCTCAGGATACAGGCGCAGAAGAACCTCGGTGCAGAGGCGCAGGTCAGAACACACACACACACACACACACACACACACACATGGGCTTTATCTGAAACTACACTCAGCATGTGT

Associated Phenotype:

Not determined