Busch Lab

ZMP

LOC563403

Ensembl ID:
ENSDARG00000017367
Human Orthologue:
RHBDF1
Human Description:
rhomboid 5 homolog 1 (Drosophila) [Source:HGNC Symbol;Acc:20561]
Mouse Orthologue:
Rhbdf1
Mouse Description:
rhomboid family 1 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:104328]

Alleles

There are 7 alleles of this gene:

Allele Name Consequence Status Availability
sa17176 Essential Splice Site Available for shipment Available now
sa22083 Essential Splice Site Available for shipment Available now
sa9498 Nonsense Available for shipment Available now
sa35273 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa17176
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
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Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000040909 Essential Splice Site 155 856 3 17
Genomic Location (Zv9):
Chromosome 12 (position 21603590)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 20129223
GRCz11 12 20251097
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AACCCCTCCWCCTCTATATGTYCCACCGCCACATCATGGCATGCAGAGGG[T/C]AAGCTGAACACATAAAATCNTTTGCTTAAACTWTTCTATTGAAACCRTAG
Long Flanking Sequence:
TTGTGTTGATATGTTTGCATTTTCCCTGATTTCCTGAAACAAAAACAAAAAAAAAACAACTTCCTTGTGTGTACATCTGGCGAATAAAGCTCATTCTTATTCTAATCAAGTAGATTTATTGGAAAATCATCCTCAAATGTGTCTCAACTAGTTCTTTAGATTTATCTTCACTCTTCAGTGGATTTGATTATTTTTTCCATTGTCTTTTTAGACGTATACCTTTTGTATAATTGGTGTGATAAAAAGGTTGTATTTGTACTATAATAAATACTGATGTGACCACAGGGGCACAGCAGACTGGTTTGGGGTCAGCAATGATTTGGATGCCACCCAGAAATGGCAGCGGAAGAGTTTGCGTCACTGCACCCAGCGCTACGGCAAACTAAAGCCTCAGGTGATCCGAGAGATGGACCTGCCCAGCCAAGACAATCTCTCCATGACCAGCACCGAAACCCCTCCTCCTCTATATGTCCCACCGCCACATCATGGCATGCAGAGGG[T/C]AAGCTGAACACATAAAATCCTTTGCTTAAACTATTCTATTGAAACCATAGGCTATAAAAAAAAAAGATGGGTGTCATTTTTTCATTTGGGTGGCATTACCACTGGAAAAATGAAACCATGTCTCGGGTATGGTTGATGTCATGTTTTGAATGATGATAAAGGTGACATCATTTAGATCCTGAATCTTTATTGTGCTGAGCATGATCTACTCACAAGCACATAAAATGGACACCACACTTTGCTTTTATGGCGTTAGATAACAATAAAAGCAAACTTGATTAAGACCTACAATAGCGTTATACAATCAATATCAAAGTTATTCACACCCCATATTAAATATTTATGAATATTTATTTGAAGTTTAATAAGAAATTAGTTTTTTCATGTTTAAAGGTTTATGCTACAATTTGTTTGCTTGGATGACCGACACGGTGGCTCAGTGGTTAGCACTGTCGTCTCACAGCAAGAAGGTCCCGGTTAAGTCCCGGCTGGGTCATTGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22083
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000040909 Essential Splice Site 224 856 4 17
Genomic Location (Zv9):
Chromosome 12 (position 21601440)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 20127073
GRCz11 12 20248947
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGAGTCTGTCGCCAAGATGGGCTTCAGAGCTGCTGCTGCTCTGGTCAAG[G/A]TAATGTGAGGCCATTTGTTAAGCATGTTGCATTAGAACTGTGCATTGATC
Long Flanking Sequence:
AAAATAAAGTGTTACTTAAAATAATTTTATTTATAGTTGAACTATTCATTTAACATTAATATTTAATTCATAAAATATTAAATTTCTTGCTGTAAATTCAACAAGATATCCAAATTGTAAAAAAATTGTTTGTTTTTATAGAATACTGGAGTATTTATCCTTGCTCAATTTTATCATTTTTTTTTTTTGTAGTCCATGTGCCCTTGTAATGTTTATTTACCACAGCTGTTGGACTCAATGAGGAGCTAATGGTTAATAATGCAGAATATGACTCGCTGTTTATGATTTTGCAGATCGTAGACCCGCTGGCTCGAGGTCGAGCGTTCCGTAATGTGGATGAGGTGGATGGTGTGAATGTACCTCAGACCCCCATCACCCCCTGCGCCGCTTCCCTGTGCTCCTTCACCAGCTCCCGCTCCGGCTTCAACCGGCCTCCCCGCAGACGCAAGCGTGAGTCTGTCGCCAAGATGGGCTTCAGAGCTGCTGCTGCTCTGGTCAAG[G/A]TAATGTGAGGCCATTTGTTAAGCATGTTGCATTAGAACTGTGCATTGATCTACAGCAGGGATGCTATAGATTTTAAAGTGCTGTTTACCAAAGCAAAGACATTTTTCTCAGGGTTTATTTCAGGTATTTTCTGTAACATATTTCTTCTGGAGAAAGTTTTATTGCTTTTACTTTGGCTGTAATTACAACAGAACTGAAAACTCAAATTGCTTTAAAACTAGTCAAGTGTGAGTTAACTATGACATAATTTTCTTTTTTTGTGTGTGAGCTATACCCTTAATTAAAATTTGAGACACAGCTACTTTTTTAATTACAAGTGTAGAAGAGGCCATACAGTGAAAAGCTGTGAAGGTTGTTAGAGCAACCGACTCCCATGCAGAAGGTTGCTGGTTCGATCCAAGCTTAGAGTTGGTTGCGTGGTGTAGGACCGGAGTGGGACTCCTTTTCAACTCTGGAACCCATATTAAAACAACGTCATTTCCAATTCAGTACTTTAACAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9498
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000040909 Nonsense 690 856 16 17
Genomic Location (Zv9):
Chromosome 12 (position 21584081)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 20109714
GRCz11 12 20231588
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGTGCTTCCAGATGACCATTCTAAGGGATTTGGAGAAGCTGGCAGGCTG[G/A]CTGAGAATCTCTATCAKCTATATCCTCAGCGGGATTACGGGCAACCTCGC
Long Flanking Sequence:
TCTTATTTTTATTCGATTTTCTGCTGGTTTATAATGAGTGTCACTACAATGTGCAATCATGTAAAACACCAGCAGGGGGTGTAGAGATCTACATTTGTCCCAGTATCCATAATGTCAGTGTACAGACAAACCTTTAGCCATGAATTGTAATTTGTGTAATTACGGATAAAACTGATGATCTGTTCTCAGGTTCATTGCATGGATGATGTTTGTGGCCTCCTGCCTTTTCTGAACCCAGAGATCCCAGACCAGTTCTATCGACTCTGGCTATCTCTGTTTCTTCACGCCGGGTGAGTAGGAGGAAGCGTGATCCGTCACAGGGGGGCCTATTGTGAATTTCCCAATAAATTAAATGCAGTGTCAGATTACTGTCCTGACAAAGGTAAAGCCGTGTTTGATTGATAGAGAAAGTCTCTGTGTCTCTGCAGGATCCTGCACTGCCTGGTGTCTGTGTGCTTCCAGATGACCATTCTAAGGGATTTGGAGAAGCTGGCAGGCTG[G/A]CTGAGAATCTCTATCATCTATATCCTCAGCGGGATTACGGGCAACCTCGCCAGTGCCATCTTCTTACCGTACAGAGCAGAGGTACAGAAAAACCTAATGAGTCTAAATCAGGGATCATTGAGTTTCTTTGTTCAGTAATGAGATCATGTAACTAATTTGGACCCAAAAATTTTTAAAAGTTTAGTTCAGCCTTTCATAGGTCTTTAGGATATTGGCTGGATAATTCTTATAGACCACTTATTCTAAAACACCTCAATTATTATTAATCACTAAAAATGTTTTTTTTTTTTATTAAAAAATAAAAAATAGCACCAATGGATTAAGGGAAGTTTATTTATAAACTAAATTCGAGAGGATCACAGGCTTATGATTGCTTGTAGCTGGTCCCGCATTATTTAATTTATGATTCACCAATCAGATGATTCCTAATAAATACTCTAAGTTCCATATTACAGCCATCTTCGTTTTGAAGAATCCCCCATTCCACCCCTACTCCTCCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35273
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000040909 Nonsense 849 856 17 17
Genomic Location (Zv9):
Chromosome 12 (position 21579947)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 20105580
GRCz11 12 20227454
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTGAGTTTCTCACCTGCATCCCGCTGACGGACAAGTTTTGTGAGAAATA[C/A]GACCTCAATGCTCACCTCCACTGAGGCCTTGCAGAAATAGGGCTGCGCTT
Long Flanking Sequence:
AATCATCATTGAATGTTTTTTTCAGTGCAGTTTATTTGAGGAGGTTCAGTGCAGAAATGTCTCTCTCAAGCCATAAAACGTTATTCCCTCTGCTTCTGATGCCAGGTGGGTCCGGCTGGCTCTCAGTTTGGCATCTTGGCCTGTCTGTTCGTGGAGCTGTTCCAGAGCTGGCAGATCTTGGCACGGCCGTGGAGGGCCTTCACCAAGCTCTCATGTGTAGTGCTGTTCCTTTTCGCCTTTGGCCTGCTGCCCTGGATAGATAATTTCGCTCACATCTGTGGCTTCGTCTCGGGCTTCTTCCTGTCCTTCGCCTTCCTGCCCTACATCAGCTTCGGCCGCATGGACATGTACCGCAAACGTCTACAGATCCTCGTGGCACTTACCCTTTTTGTGGGCATCTTCTCCAGCTTCGTGGTACTCTTCTATGTTTATCCAGTTAAATGCGAGTGGTGTGAGTTTCTCACCTGCATCCCGCTGACGGACAAGTTTTGTGAGAAATA[C/A]GACCTCAATGCTCACCTCCACTGAGGCCTTGCAGAAATAGGGCTGCGCTTGAAGGCATCTGGATGCCAACTCTTGACTCTTAAGCTTATATAAAATACACTCTTTTTATACAATGTTGTTTCATACGGAAAGTTTTATTGTTTTTAATATTTCTCCGGCTCAGAGAGTCCACCCCAGGAGGGAAGAATAGCCAGTTGTGCCTTTTCATTGACTACCAGCTACTGCCATATCCGAGTCCTGTTAGATCAGAGCACTTTTGGAGCAAACCTGTGATGCATGTAGTGCTACTACTACAAAGGTTAAATTCGGTAGCGTTTTAGCTACCTGTTCAAAAGTAAGAGAACAAAATAAATTGTGACAAAATCACAAAGTTTGCTGTCATGTTTGGCTGTTTTTCCACTTTGGTCCCACTTTATCTTAAGTGTCACTTATAACTGTGAACTTACAAGGTAGATGTGTAAATAGTATATAACTACAGTGTATGTACACATTGGTACATA
Associated Phenotype:
Not determined