Busch Lab

ZMP

LOC100332921

Ensembl ID:
ENSDARG00000077839
Human Orthologue:
DHX30
Human Description:
DEAH (Asp-Glu-Ala-His) box polypeptide 30 [Source:HGNC Symbol;Acc:16716]
Mouse Orthologue:
Dhx30
Mouse Description:
DEAH (Asp-Glu-Ala-His) box polypeptide 30 Gene [Source:MGI Symbol;Acc:MGI:1920081]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa10400 Essential Splice Site Available for shipment Available now
sa19646 Nonsense Available for shipment Available now
sa10286 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa10400
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113021 Essential Splice Site 133 1173 3 21
ENSDART00000113021 Essential Splice Site 133 1173 3 21
Genomic Location (Zv9):
Chromosome 2 (position 257619)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 224287
GRCz11 2 213198
KASP Assay ID:
2259-1420.1 (used for ordering genotyping assays)
KASP Sequence:
ACAGGAGGCGGAGCGAAACGCAGCAGCCGCAGCTCTACAGAAACTTTGCG[T/A]GAGATTTTACTCTCATTACACATCACATTAAAYAGTACTACASTATTATA
Long Flanking Sequence:
TGTTTATAAAATAAAAAGGTTTGTTTTGGTAATCAATAAAAGTCTGAGCTTCTGCGTTTGCAGTGGCTCCTGTTGATGTCAGCCTGAGTGCTTCCACACCAACTGTACATAAGCCTCCTTAACAAAATAAAGCCCCGCCCCCTATTTAATATTCTTTTTCGTATGAAGTAATTAATATGGAAATAAATCTCAGCAACTTTTAGTTTATGCAGATTTAAGTCATTTTTATGACAACAGAATCTATAATATTTATTTTGTGAATGGTGATGCCATTTAATTTTTGATGTTATTGTCATAGTTTTGGGTTATTTTTTTGACTGCTCATTGCGCTGGTTTTGTTATGGAAACCTGGCAACCCTGTGTGTTGACCTCAGCTGCTGTGTTTCAGAGGGCCACGGTTACTCTTCTTTGGCCCGTGAGGATCGAGACTGAAGGCTTCGGGTCCCGCAAACAGGAGGCGGAGCGAAACGCAGCAGCCGCAGCTCTACAGAAACTTTGCG[T/A]GAGATTTTACTCTCATTACACATCACATTAAACAGTACTACACTATTATATACTATATTAATAGTAAATTATACTCTATTTATTTAATTTATATATATATATATATATATATATATATATATATATATATATTTATATATATAATTATTTTTATTAATGCTCCAGCTTACTGTATTACTATAGTAATATAAACTGTAATAAATACTGTAGTATAATTTAGTTTTAGCTACAGTAAACTGGTGTTTTGCAGTATAATTTTCCCTATAGTTGTAGAAAAGTAGTGTTACCATAGCAACTGTAGAATCACCACAACAGATCAATTACTATAGTAGTTGTGTTACCATAGCAACTGTAGAATCACCACAACAGATCGATTACTATAGTTGTTACCATGGCAACTGTAGAATTACCACAATAGATTAGTCACTGTAGTTGTTGTTACCATGGTAACCGTATAATCACTACCACAGTGTAGTGTGGTTCAAAAACACTATAGTGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19646
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
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113021 Nonsense 306 1173 7 21
Genomic Location (Zv9):
Chromosome 2 (position 263512)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 230180
GRCz11 2 219091
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGATCAGGTTCGAGAGGCCGGAGAGAGACACCGACAGCCCTGCCGGATG[C/T]AGATCCCAGAGCAGCTGGAGCTCAGGATACAGCAGTACCTCTCACAGGTC
Long Flanking Sequence:
TGAAGTTTGAGCTGAGAATGGTTGTTTTCTAACTGTCTAAAACTGAACCCGTTTAGGCTTTGATCCTAATTGTACTGCTTTCAGACACCAAAACAGCTGCAATTCCCTCTGACCCCAAAAGTGGCCTTTTCTGAAGGCTATAATAAATGATTTAATTGGTGTTTTGAGCTGTAACTTCACACACACTACTTCCGGAGACACCAGACTTACTTTACATCTTTTAAAAGGGGCAAAATTGGAGCCCTTTAGTAATCCTGAGTGCATCAGCGTAGTCTGTGCTGATTCATCAGCAGAATGTCTTAAACAGAATTCAGAGTGACCACAGAGAGTCCAGGTTCTTCATTAAAAGTCATTCGGCTGCAGTGCTTATAATGACTGGTTTTCTCTTCGTGCAGGAGCTGAATCTGCTGGATGAGCAGAATAAGCCTCTGACCCACGCCCGGTACCATCAGGATCAGGTTCGAGAGGCCGGAGAGAGACACCGACAGCCCTGCCGGATG[C/T]AGATCCCAGAGCAGCTGGAGCTCAGGATACAGCAGTACCTCTCACAGGTCAGGGGACACTCAGGGTTGCCAAGTCTGCGCTTTTCACACTGAAATGGGATATATTTGAATTTAGTTTTCCACGACTTTTAAAGTCACAATAAAATCAAAGTTTACTCTTCATATTTTTATATGTATATAGTACTGCTTGTTGTACATGTATCTGAGCAATTCATTATTGTGTAGATATTAGTTTGCCCCCTCAGAATCTTTGTTTCCAATATCATAACCCTCTTTCCCACCCTCGAAATGATTTCTGGACACATTTAATGCCTTTAAGGTGGGGCCATCGATCATTTAGGGCGGAGCTATCAGTCATATAGGGCGGGGCTATTAATACTTTAGGGCGGAGCTGTCAATACTTTAAGGTGGGGCTATTAGTCATTTAGGCCGGAGCTATCAATCCTTTAGGGCGGAGCTATCAGTCCCTTAGGGCGGAGCTATCAAACATTTAGGTCAGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10286
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
ENSDART00000113021 Nonsense 752 1173 14 21
Genomic Location (Zv9):
Chromosome 2 (position 270171)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 236839
GRCz11 2 225750
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CGCTGAATACYGTCTGGATTTCACAAGCAAACGTGACTCAGAGAAGAGGA[C/T]GAGCCGGACGCTGTCAGCCTGGACATTCTTATCATCTTTTCCCCAGAAAG
Long Flanking Sequence:
ATGTTTGTCTGTGTCTGAATGTGCTGCTGTTGTCTTCAGTGCACTCCAGTATGGCGGTGTCGGAGCAGCAGGTTGTTTTCCAGCGTCCTCCGGCCGGCCAGCGGAAGATCGTTCTGGCCACAAACATCGCCGAAACCTCCATCACAATCGACGACATCGTGCACGTGGTGGACGCAGGAGTGCAGAAGGAGCAGAACTACGACCCCAGAACTAAAGTCTGTAAAATAATGAGAAATCCTGCACTTCTGTTTATTTTCTGTGTTGGATGTGAAGCTATAATAATTATTAAAGTTACAAAGCATTAAAAATTTATAAAATAAACTATAATAAATACATTCAATTACAATTACAACTGTTATAGTTACAGTATCTCTCATCTTTGTATGGATAAGGATGCTGAAATGCTGATGGATGTTGTTTTATGATGTACGTGTTGTCCTCAGGTCTCTGCGCTGAATACCGTCTGGATTTCACAAGCAAACGTGACTCAGAGAAGAGGA[C/T]GAGCCGGACGCTGTCAGCCTGGACATTCTTATCATCTTTTCCCCAGAAAGCAGCTGGAGCGCATGGAGCCGTTCCCCGTGCCGGAGATCCTGCGCACTCCTCTGGAGAGTGTGGTGATGCAGGCCAAGATCCACTGCCCCGAGAGCAAAGTGAGTCCTCAGATGTACACTAGAAGAGCGTTTATTTACACTGCAGATCAAACGGAAAAGCAGTGTGCATTTAAAACTAAAGAGCCGTATTTGGTCATGGTTATTCTTCATTTTGTGGTCATTTTTTACCTTTTCGTAGTCGTTATTCTTCACTTTGTGGTCGTTATTTTTCGTTTCTTTGTTATTTTTTGTTTCGTGGTCATTATTTGTTTTGTGGTCGTTATTTGGTTTGTGGTTGTTATTCTTAATTTCGTGATCATTAGTTGTTTTGTGGTCGTTATTCTTTGTTCCTTTGTCCTTATTTTTTATTTCATTGTCATTATTTGTTTTGTGGTCGTTATTCTTCATTTC
Associated Phenotype:
Not determined