Busch Lab

ZMP

ENSDARG00000051970

Ensembl ID:
ENSDARG00000051970
Human Orthologue:
SMU1
Human Description:
smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) [Source:HGNC Symbol;Acc:18247]
Mouse Orthologue:
Smu1
Mouse Description:
smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) Gene [Source:MGI Symbol;Acc:MGI:1915546]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa18504 Nonsense Available for shipment Available now
sa15438 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa18504
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
ENSDART00000073694 Nonsense 167 539 4 13
Genomic Location (Zv9):
Chromosome 1 (position 45494371)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 44337590
GRCz11 1 45038893
KASP Assay ID:
2259-0946.1 (used for ordering genotyping assays)
KASP Sequence:
CTGGAGAGGTCTGTTTGGTGCCCCCTTCTCGTCTCATGGGTCTTCTTGGY[C/T]AGGTTTGACACCTTTCATTTCTTTTCTTTTTTTNTCTAACCTGTTGCAGGC
Long Flanking Sequence:
GTCAGAATAACACTGTTAACATCTATAGGCAGAAACGTTGATGTGTACTTTGTGTGAATGTGAACTTACTGTATATTAATCTCCCAAATTACAAACGTCTTTTAAGGTCATTAGAGTATTTGTAAATATAGAAATCTTGCATTTGTTTTTATTGCTAAATAACAGAATTACTAAGTACAGGAAATAGTAAAAGTTGTCAGAAAAAAAAAACACAAATCTGTGTTTTTATGATTATGATATATTGATCACAGCTGATGCATCTCAACAGACAGTTGTTTACAGCTAAAGTAACTGAATAATGGATTGCATAATCACACTTCTCCGTCCAAGCCAAGGCGGATGATATTTTTGTGAAACAATGAATAACTACTTTTTTTGGCATTGGCTTGCAGGCATATCCAGTGGGCAGCAGTAAAGAGAAGCGCAGACTTGCTATCGCTCAAGCTTTTGCTGGAGAGGTCTGTTTGGTGCCCCCTTCTCGTCTCATGGGTCTTCTTGGC[C/T]AGGTTTGACACCTTTCATTTCTTTTCTTTTTTTTCTAACCTGTTGCAGGCTATTTATATATGTGGTGCCTTTTTGTATTGCCTGTATCACACATCCTTTGTTTTTACAGGGCCGTATATGTGAAGGGGCTCTTTATAGGTTACAGGAGACCAAAGCGCTCAGACAGTTTGGCTCATTAGCAATGCTGGTAAGGAAAATATAAAGTATTTTAGTAGTTTAGCATGTTTAAGCTTTCAAGAATTGTGTATATTCTACACCAGGGGTCACCTATCTCATTCCTGGAGGTCTGGTGCCCTCCAGGGTTTAGCTCCAACTTGCCTCAACACACCTGCCTGGGTGTTTCAAGTATACCTAGACCTTGATTAGCTTGTTCAGGTGTGTTTGATTAGGGTTGGAGCTAAAATCTGCAGGACACCGGCCTTCCAGGAACAAGTTTGGTGATCCCTGTTCTACACCATATCTATTAACTGAGCAGTATTAGCAGGTTTTTTCCTTGTTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15438
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000073694 Essential Splice Site 400 539 10 13
Genomic Location (Zv9):
Chromosome 1 (position 45477528)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 44320747
GRCz11 1 45022050
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CGCACGACGGCCAGCATGTCATTAGCGCWTCGGCGGACGGCACGGTAAAA[G/A]TATGTWTTCACACTGTAGTGTCCWGCCTTTACTAGTCTTTGCCTTTCASA
Long Flanking Sequence:
TGTTGTCAAGGAATTAATCATTAATTGATCACATCATAACTTGCGAGTGTGTTCTTTTGTCTCTCAACAACAGAGGAATAATAATCAATCTAATTTGTGGATTGTGAGATGAGAAAGTAAGGCTGCAGTTTGTACACAAAATTTAAAAAAAGGTCTTTAATGTTATTTTAAGGTTTTTCCTTTTGGATTTTAGGCTCTTTGCTTAAAATAATCAATTCATGGCATCATAACATGCTTCCTTTTTATGAATTGCTTCTTTGTTTCGTATGATTTTTGATTGTCGCTCCTTTTCTTGGGCTTAACATTTATTAAGCAAATAAGTTGTGTGTTGTGCTTACAAATACATTTCTAACTCCTTTATTTCAATGATCAGGATTCATGGTTTGAAGTCAGGGAAGTGCTTGAAGGAGTTTAGAGGCCACACAGCTCATGTAAACGATGTCATCTACTCGCACGACGGCCAGCATGTCATTAGCGCATCGGCGGACGGCACGGTAAAA[G/A]TATGTATTCACACTGTAGTGTCCTGCCTTTACTAGTCTTTGCCTTTCACATGTACTTTTGAGGATTTTCTTACTCATTTTTGTTTTTCGTCAGGTCTGGACCGTGAAGACAATGGATTGCACCCACACAATAAAAACCCCTGACATCCCTGAGGGTACAGACATCACAGTTAACAATGTTGTGCTGGTTCCAAAGACCCCTGAGCACTTTGTAGTGAGCAATAGGACCAACACAGTGGTTGTTACGAACATTCATGGCCAGGTGAGAAACACTAATTGACCAAAACTGGCTTAAAGGAGTCTTTTTCGGGCCTTTTCATTATTTTTGTACAGTTATCTGAGGTCCATTTATAATGTTACTAAGATGTATATATAAAAATATATATTTTGGAAGCAATGGCTATTTACAGATCTGTTTTGATCTCCCAAATTGGATCACAGTTATTATAGACATGGTGGATTATAAACTTTAAAGTAAACACATACTCATATGATTGGCTA
Associated Phenotype:
Not determined