mbtps1

Ensembl ID:
ENSDARG00000014634
ZFIN ID:
ZDB-GENE-030131-4909
Description:
membrane-bound transcription factor site-1 protease [Source:RefSeq peptide;Acc:NP_954683]
Human Orthologue:
MBTPS1
Human Description:
membrane-bound transcription factor peptidase, site 1 [Source:HGNC Symbol;Acc:15456]
Mouse Orthologue:
Mbtps1
Mouse Description:
membrane-bound transcription factor peptidase, site 1 Gene [Source:MGI Symbol;Acc:MGI:1927235]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa14973 Essential Splice Site Available for shipment Available now
sa9659 Nonsense Available for shipment Available now
sa32206 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa14973
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019861 Essential Splice Site 151 1074 3 23
ENSDART00000114292 Essential Splice Site 151 1067 2 23
Genomic Location (Zv9):
Chromosome 18 (position 21454866)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 21685089
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CGTGTGACGCCACAGCGCATGGTCCTCCGCAGCCTTAAATTCACAGACTG[T/C]AAGTAGTCGTGTTGTCAAARTAATTCATACAYATGCAATATCASTTTTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9659
Current 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 > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019861 Nonsense 522 1074 12 23
ENSDART00000114292 Nonsense 522 1067 11 23
Genomic Location (Zv9):
Chromosome 18 (position 21437247)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 21667470
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTGACCGAGTGCCCRTACATGTGGCCCTACTGCTCTCAGCCCATTWACTA[C/A]GGTGGCATGCCAACAATCGTCAACGTGACCATTCTTAATGGTATGGGCGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32206
Current 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:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019861 Nonsense 1009 1074 23 23
ENSDART00000114292 Nonsense 1009 1067 22 23
Genomic Location (Zv9):
Chromosome 18 (position 21426697)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 21656920
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GATTTCACCCTCACAATGTGTTTTTCCTCAGGAATAATGCCTGGACGATA[T/G]AATCAAGAGGTGGGACAGACCATCCCGATGTTTGCCTTTCTTGGTGCCAT
Associated Phenotype:
Not determined

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