Busch Lab

ZMP

LOC100149276

Ensembl ID:
ENSDARG00000088072
Human Orthologue:
USP43
Human Description:
ubiquitin specific peptidase 43 [Source:HGNC Symbol;Acc:20072]
Mouse Orthologue:
Usp43
Mouse Description:
ubiquitin specific peptidase 43 Gene [Source:MGI Symbol;Acc:MGI:2444541]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa33175 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa13909 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa33175
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
ENSDART00000122735 Essential Splice Site 316 1183 4 15
Genomic Location (Zv9):
Chromosome 3 (position 25702610)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 25470795
GRCz11 3 25601343
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGATCCTTTTCTGTGCATTTCTCTCCCCATTCCTCTAAGACAGACACGG[T/C]GAGTTAAATTCTGGCCAACAAAAGCATCTGAATCATGCAGGAATTTGTGG
Long Flanking Sequence:
CAGACAGACAGACAGACAGACAGACAGACAGACAGACAGGTAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATTAACATAAAGCTTCATCTACTTACTGACAAGAATGAAGCAGAAATTGCAATTGGGACATTGTAAGCCGCAGCTACAACATTAATTCCTCCCTAGAGATGTTCTGAGCTTCCTCTTCCTTTTGACATCACTTCCTCTTCCACTTAATGTACATTGAGTCCGTTTTCAGATGAAACAATGGCTAATAGTTTCATTGTTTGTGTTTATGATGTATCTTTATGTTTATTACTTTTTTCCAGGTCATCTCTGACATGCCCTCATTGTCTTAAGCAGAGCAACACGTTTGATCCTTTTCTGTGCATTTCTCTCCCCATTCCTCTAAGACAGACACGG[T/C]GAGTTAAATTCTGGCCAACAAAAGCATCTGAATCATGCAGGAATTTGTGGTTTTGTAATTTTAGCTACTTGTTGCTTTTCTACAGTCAAAAACAGTGTAGCAATCTAAACAACAGAAATAGATTGATCGCCAGGGAAGTTTTTTTTTTTTTTTTTAAACAGGAGGAGAAGGAGAAGGAAATGACCACCCTTACATTTACAAATACAATGCTATTGTGCCAGTAACTGTAAAATTAGATTGAACATTTTTAATACACATGAAACAGGTTGTTGGAGATATTGAGATGCCCTTTACTACTATCACTAACATTCAACATTCAAAAGCTTATTTTAGACCGTAAAGCATGCGTTTTCTTCTTTCTCTCTGCAGACCTGTGTGTGTGACTTTGGTGTTCAGCAGTAAAGGGCAGCGCTATCTGAGAGTCGGGCTTGCTGTGCCTCTGTTCGGCTCTTTGGCTTGCCTGCGCAGGATGGTAGCAGATGAGGGCAAGATCGCTCCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13909
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000122735 Nonsense 742 1183 13 15
Genomic Location (Zv9):
Chromosome 3 (position 25663236)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 25431421
GRCz11 3 25561969
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCAGGAACTCGGTGGACGGTCAGTGGTACRCCTATGAKGACAGCAGTGTW[G/T]AACCCTTGCAGGAGGGAGAAGTGTGCACTCGCGCTGCTTATATCCTSTTC
Long Flanking Sequence:
GATGCTGTAAAAGGAACCATATCAAATGAAAAAAAGGCACATTAAACGTTCACCAGTGGTTTTTGAGTATGGGAAGAAACACTAGCTCGGCATATAGCCTATGATGGACATTTCTTCTACAACCTGCAGATGGCTGTACTCTATTGCTAAAATATCCAGATTTTTTTTTTCTTTACATTTACTATATATAATATAATATATAATATAAAAATTTCCTTAGGTAAATTCTCTGTAAAAGGAACCTGACTGTGATTTTTTTCCCTGTGCCTATTAATGGTGAATAGGCCTCAAACAAGAGAGGAAAATAGTAGAATGCTGATTGCAGTTTTTTTTTCTTACCTCAAATTGCCAAAGAAATTTGTATTCAATGTGTGTACGATATATACCTGAGTCTGAAGCAATGTATGCTGCATGCTAAATGTAATGAATCTTTGCTCTGAACAGCATACTGCAGGAACTCGGTGGACGGTCAGTGGTACACCTATGATGACAGCAGTGTT[G/T]AACCCTTGCAGGAGGGAGAAGTGTGCACTCGCGCTGCTTATATCCTCTTCTATCAGAGACGTGATGCCATCCCTTCTTGGTCAGCTAGCTGCTCGCGACAAGGTAACCACTCATTTCTGACATTCACTTGCATTTTATCAAAAGCAAAAAACAAAGCACATACTAAATTAGTAGAGAAGTACGAAACAAACAATAAGAGCTATTTTTTAACGGTCGAGGGGCAAAGTCTAAAGCGCATGGTGCACATGCGTTAATGGCGTGTCCGAATACATTTTACTATTTTAATGATGGAAATTGGTTCTTCACCCCGCACAATGTATAATAAGGTTGTGCATATTTTTTAATGACTTGTGGGTGTGTTTTGAGCATAACATGCATTAAACCAATCAAAATCTCATCTCCCATTCCCTTTAAGAGTCAGTTGTGTCCCACCATGGCGGATTTGCTATTTAAATACCTTAAAAGTCCTCAAAAGTAACTCAAAACTAAAGGTCGCAGGT
Associated Phenotype:
Not determined