Busch Lab

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:

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