Busch Lab

ZMP

NP_001184253.1

Ensembl ID:
ENSDARG00000032117
Description:
ATP-dependent RNA helicase DDX1 [Source:RefSeq peptide;Acc:NP_001184253]
Human Orthologue:
DDX1
Human Description:
DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 [Source:HGNC Symbol;Acc:2734]
Mouse Orthologue:
Ddx1
Mouse Description:
DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 Gene [Source:MGI Symbol;Acc:MGI:2144727]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa45708 Nonsense Mutation detected in F1 DNA Not yet available
sa16316 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa45708
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
ENSDART00000023963 Nonsense 15 740 2 26
ENSDART00000131785 None None 496 None 15

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 20 (position 33214248)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 33272488
GRCz11 20 33175367
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATATCTTATTGTTTTGCCTTACAGAAATGGGAGTGATGCCAGAAATTGCA[C/T]AGGCGGTGGAAGAAATGGACTGGCTGTGAGTTCTAATGATCTTACATCAT
Long Flanking Sequence:
CTCCTCGTCTTCTAGAATAATATCACCTGCCATGTTTTCAATGAACTAACGTTAGAGAGCGCACACGTCAAACTACGGCGGCCTGCGAGGTACAAATAAAAAGACTGCTTATGCTTGTATTTAATGCTTCGGGTTCTCCGTAGGTTGTTTTGTTATAGTATCTCTAACTAATTTTGTTATATTTATTTATTTGTCGCGAAAGACGCTACAATAAACAGTCTACGTTTCCTATTATTAAAATAAGATAAGCGGAACAGATGCGGGAAAGCGTGTTCCGCACGGGTCGTTTCTAACTTGTACCCTGTCAAAACTAGCTTACGCCACTTCCGGTGAAGAGGCTCGCAGGAGTTTGACACCATGGCAGCATTCGGCGGTGAGATTTATCTGTCAACGTATTTGTGAGACCTATAAGAATAAGGATTTAATAAAACGCCGAATGTCTGTGAACCTATATCTTATTGTTTTGCCTTACAGAAATGGGAGTGATGCCAGAAATTGCA[C/T]AGGCGGTGGAAGAAATGGACTGGCTGTGAGTTCTAATGATCTTACATCATAATGTGTATTATTAATATATTTGTTATGCTTGTATAAATTAAGTAGATGACGGTTTGATGGTCACTTTTAGGTTGCCAACGGACATTCAGGCCGAATCCATTCCACTGATTCTGGGTGGAGGAGACGTGCTCATGGTGAGATCTGATATGCATTGCAAATCAATGAGGTAGAGTTGGGTTTATATTCGCACATTCATTCAGTGACAACCGTCCCTATATGGTTTACCATGGTACTTTGGATATTCAGTCTGAAGTCGCATGTAAGTATGACTATAATAAATAACTAACAACTATGTGACAGAACAATGTTGTACTTTAATGGTCATTGGCTGCTTATGTAATTTCCCTATTTAGAATTTGCAAAGAATATTTTTCTAAAATATATATTATATTATAATAATTATATTATATTGAGAGCCCAAATCCCTGAACATAAAACCAACTTTTACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16316
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000023963 Essential Splice Site 209 740 None 26
ENSDART00000131785 None None 496 None 15

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 20 (position 33217350)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 33275590
GRCz11 20 33178469
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGATGCTACATAGATCTGGAAAAAGGCCATGTGTCATTCTCCAAAAATGG[T/C]AGGGTTCTGWTTAGTTTTAGTAAATAAAACTTTTTCTTTTYAAAATTCAG
Long Flanking Sequence:
AAGGTTTAAAATAGATATATTTTAAAAAAAAAATTTTTTTTTGTCTAGTCCTGAAAAGTTATTTTACATTACTTTCCCCCCTAGGGAGGTATTATTATGAAGTTGCCTGTCACGATCAAGGGCTGTGCAGGGTGGGCTGGTCCACTGCCCAGGCATCACTGGACTTGGGTATGTTTCATCATGATCTCATTTCTATGATCTACTAATTCAATGATCTAGTTATGTCATCCCTTTAGTAAATGTATTGTTTTTTATTCTGTTTTCCTCTTTCTTAGGAACTGATAAATATGGATTTGGCTTTGGAGGAACTGGAAAGAAATCTCACAATAAGCAGTTTGATAGTTATGGAGAAGTACGATATAACAGAGGCATTTTATTTGACTCAAATTTTAGTACGTTGATAATGATTTAATTTTACCCCCTCAGGAGTTCACAATGCACGACACTATCGGATGCTACATAGATCTGGAAAAAGGCCATGTGTCATTCTCCAAAAATGG[T/C]AGGGTTCTGTTTAGTTTTAGTAAATAAAACTTTTTCTTTTCAAAATTCAGTCTCTTGTTGCACTCTGCCACTATGTAGAGCTATGCAGAGTTAGAGATGGTATTCAGATCATTTATATTAATTTAGAAAATTACAGAGTTAAGCACACTACTGAATACCAGATACAGATAATTCATAAAAGTAACAGACAGACAGACAGACAGACAGACAGACCGACCGACCGACAGATAGATACAGACAGACACAGGCAGAGTATGATATAGATAGTCATTATGTAATAGAGAGAGAAAGCATATCAAACTGCAAATGTTTATTTAGGTTAAATTGACACCACATACTTTTTCTATATTTACTTATTATTATATGGAAAAAATTACACTCAATCATGACATGAACCAGAATTCTGTTTGATGATGATAATAATAACAGTACATCTTTATGGAAATAAAGTTTTGACATCACATGAATAAATGTACATGAAGTACATTTAAAATGTATTA
Associated Phenotype:
Not determined