Busch Lab

ZMP

ctskl

Ensembl ID:
ENSDARG00000042753
ZFIN ID:
ZDB-GENE-050208-336
Description:
Novel protein similar to vertebrate cathepsin family [Source:UniProtKB/TrEMBL;Acc:Q1LXE8]
Human Orthologue:
CTSH
Human Description:
cathepsin H [Source:HGNC Symbol;Acc:2535]
Mouse Orthologue:
Ctsh
Mouse Description:
cathepsin H Gene [Source:MGI Symbol;Acc:MGI:107285]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa12959 Essential Splice Site Available for shipment Available now
sa1007 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa12959
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
ENSDART00000062749 Essential Splice Site 96 349 3 8
ENSDART00000137497 Essential Splice Site 58 264 2 7

The following transcripts of ENSDARG00000042753 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 22 (position 16634016)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 16385774
GRCz11 22 16412044
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTYGGAWTGTCAATGTTTAAAATGGCAATGAACAAATATGGAGACCTGG[T/A]AAGTAAATCGGAATTAAATATCCATTTATCTGAAAATAACCAYTGAAAAC
Long Flanking Sequence:
GTGGGCTCCTGTGCAGGTGGCATCAGAATCGGAAGAAGAAGCCCCAACTGAGTGGAATCTGTGGAAGAAAAAACACGAAATATCCTACGACGAAGAGGTCGGTTATGGTCAGCTGGGCATGACTTAAAGGTACAGTACACCCAAAAATGAAAGTTCAGTCATTATTAAACTCATATATTGAGAGCATGAGGGTGACCGAATGTTCAGTTTTGGGTGGACTATTCCTTTAATTGAAAGGTTTGAATGATTGTTGTGCTCTGGGGATACTTAACCCTGTATAAACATACAGTTTACGTGTGTTGTTAAGATGATTATATGTCGCTCTATACACTGAATGTTTGTGTATTTCTCATGACGTTTGGCTTTTTAACCACAGAGTGAAGATGTTCACAGAAAGACCATTTGGGAGACCAACATGCAGAAGATCTGGAAAAACAACAATGATTTCAGTTTTGGATTGTCAATGTTTAAAATGGCAATGAACAAATATGGAGACCTGG[T/A]AAGTAAATCGGAATTAAATATCCATTTATCTGAAAATAACCACTGAAAACCATTTAATTGGATAAGTAATAATATTTATCATTATGTTTTTTGTGATGTGAATCTTCATTTGAATGGATCTTTATACTAGTAATGTTGATATTTATACTAGTCGTATGAATTTCATGCAAAAAAAATTTTTTTTTGAGAAATCACACCTGTTTGTCATTATTATTACAGATTTGATGTTCAATTTACTTTTCTCAAACAATTAGAATGATTATTAAAACTGCATAGTTGTATTTATCGTTATAATTGTTGTGATTGATGCGAATTCCTTGTTATACTGACACCTAGTGGTGTGGAGTAATTAATATGTGCAAAAATATCCATTTCAGCTATAATGTTGTTCTGTAATTTTTTTGCTTAATCTTTAAACCAACATTGACAACTGAAATAAAATGAAAAATGGTGACCTCATAAGTAAAACTATTTTTTACTTACATTCTGAGCTTTATTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1007
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000062749 Nonsense 312 349 7 8
ENSDART00000137497 Nonsense 227 264 6 7

The following transcripts of ENSDARG00000042753 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 22 (position 16629477)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 16381235
GRCz11 22 16407505
KASP Assay ID:
554-0911.1 (used for ordering genotyping assays)
KASP Sequence:
CATGCTGTGCTGGTGGTTGGTTACGGCTCMGAGGAGGGCACAGATTACTG[G/A]ATAATCAAGAACAGGTGAGAGAAAACGCCCTTCATTTACATTTRTGCCAC
Long Flanking Sequence:
ATATTATATTATATTATATATTAAATTATATTAAATTATATTAAATTATGTTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTAAATTATATTATATTATATTATATTATATTATATTATAATATGACACACAAAAAATAAAAAATAAGACACATTTTAGCAAAAATAGTAATGAAACATTAAAATTCTTATTAAAATCAGAATTGTATAATATATAATCAATTTCAAACAAACTATAATTTTTTTTTACAATTCTGTAACACTTTAGAATTAGTTTTAAAGGACTATTATTTTAAAGTGTTACCAAAAATATCATCATTTTAAGCATTGTTTTATTTTAGATTTGTTTATTTAGCTTAAAAACATTTTTTATTCCACAGGAATCTACAAGGAATCCAACTGTAACCCTAACAATCTCAACCATGCTGTGCTGGTGGTTGGTTACGGCTCAGAGGAGGGCACAGATTACTG[G/A]ATAATCAAGAACAGGTGAGAGAAAACGCCCTTCATTTACATTTGTGCCACAACATTAGCAATGCAACCCAAACTAGACCACTTTCCTTTTTATTATCATGCTCTTACAGTGGCCTTCATTACCCTAAAACAGCCACTTCACAGAATACTATGCTGTGAAAGTGTGCCAATTCTAGGTATCTGATGTTTTGTTTTGCTGTCTTTTCTCAGCTGGGGAACGGGATGGGGTGAAGGAGGCTACATGCGGATGATCCGCAATGGCAAAAACACATGTGGCATTGCCAGCTATGCTCTTTATCCCATTATTTGAAACAAACGATATGTTTTACAATAAGGTCTGTGTCACAAATCAGTGTATTTAGCGGGTTTGACTTGTACAGAGCCGCACTTTAGTCTTGTTTGCAGTCCGACTTTAAGACAAGGCACTTCAGGTGAATTGGGTAAAAAAATAAAACTCCTCCAGTAGATTAAGTTAAGAATTCCAAACTTTTTTTATTGTCA
Associated Phenotype:
Not determined