Busch Lab

ZMP

ctsh

Ensembl ID:
ENSDARG00000041108
ZFIN ID:
ZDB-GENE-030131-3539
Description:
cathepsin H [Source:RefSeq peptide;Acc:NP_997853]
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 3 alleles of this gene:

Allele Name Consequence Status Availability
sa665 Nonsense F2 line generated Not yet available
sa36656 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa45641 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa665
Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000060245 Nonsense 41 330 3 12

The following transcripts of ENSDARG00000041108 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 18 (position 26209213)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 26438206
GRCz11 18 26422724
KASP Assay ID:
554-0573.1 (used for ordering genotyping assays)
KASP Sequence:
AAAGTCTAACTCCANNNTTTCTTTTCAAATTTGCAGTACAATAAAAAATA[T/A]GAGATAAATGAATTTTACCAGCGGCTSCAGATATTCCTGGAGAACAAGAA
Long Flanking Sequence:
GTCCTGTTCGCGGTTCTCTATCAGGTACTTGCAGTTCCGTTGTACACCGAGGAAGGTAAGGTATCAGCCAACTCTTTTGACCTTGTTTTCTTTCCACGTAGACTACTGTACGTGCGCTGCTGCGTCGTAACGTTACTTTCGCTTTCGACTTATTTTGCGTTTAATATGCATGTTACGTTAAAAATCTACAGCTATAATGATATATTACATATATAACATTTAAAATAGATTTTGTGGAGATAATTACTCGTGTTAAATGAATAAAACAGAATGTGATTTGCATAAGCAGTGTCCATACATTTTTACAAACATCACTATTATTTGTTACAGATGAGTATCATTTCAAATCATGGATGTCTCAGGTAAGACTCAATTGTTTTGTAACTTCATGTCACAACCCAAGGGAAATTAAGGCGACTCTGAATTAAGGAAGTAAGGTTATGAGGAAGAAAAGTCTAACTCCATGTTTTCTTTTCAAATTTGCAGTACAATAAAAAATA[T/A]GAGATAAATGAATTTTACCAGCGGCTGCAGATATTCCTGGAGAACAAGAAGAGGATTGACCAACATAATGAAGGAAACCACAAGTTTTCAAGTAGGACAATTACAATGATTTCCCAGAAGTCTGTTTGTATTTGATGTAAATACATTTACATATAATGTTTCTCTTTTTACAGTGGGACTGAACCAGTTTTCAGACATGACCTTTGCTGAATTTAAAAAGACTTACCTCCTGACGGAACCCCAGGTACTATTTTTAACAATATCTCGTGATCAACGAGGAAATAGGAAAGTACCACAATTCTTCAGCATTTTTTTCACCACCTCACAGAACTGTTCAGCCACTAGAGGGAATCATGTGAGCAGTAATGGGCTTTACCCTGATGCTATCGACTGGAGAACCAAGGGACACTACATTACTGATGTCAAGAATCAGGTAGCTTGCAACTGTTGCTCTAATAACTGTCTATTGTCCATATAATGTTTAAGCTGGTTGTTAATTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36656
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000060245 Essential Splice Site 228 330 None 12

The following transcripts of ENSDARG00000041108 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 18 (position 26211891)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 26440884
GRCz11 18 26425402
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCACAATTGGCTGCAGCTTTTGTGAAGGAAGTTGTAAACATCACAAAGG[T/A]AATTGATGGCGCATCTACAAGTATTAAACATTTGGTATGTCTGATTCTAA
Long Flanking Sequence:
TATTTTCCAAACATTTCACTGGTTATATAAAACCCCAGTTTATTGTGTCTGACCACTTCCTGTTTCTGCATTGTTTTACAGGCAGAGCAGCAGCTTATAGATTGTGCAGGTGATTTCGACAATCATGGTTGCAACGGGTGAGTTTGATCAAAGAAGGTGTCACATTTCAAAGTTATCTGTGCTGATTGTGTTGAGTTGGACATTAAGGTTTTAAGAGTAAAGTCTAAAAGGGATAAACAACCTTTTAATCTTGTCACATGCTTTTTAGAGGACTCCCGAGTCATGCCTTTGAGTATATCATGTACAACAAAGGTCTTATGACAGAAGATGATTATCCCTACCAGGCTAAAGTGAGTACTTTACTCTTTTTTTTTTCTTACTGTTTTTAAAGGATCACTTATAAAGTCATGTAACCCATGCTTGTGTTTAGGGGGGTCAATGTAGATTCAAACCACAATTGGCTGCAGCTTTTGTGAAGGAAGTTGTAAACATCACAAAGG[T/A]AATTGATGGCGCATCTACAAGTATTAAACATTTGGTATGTCTGATTCTAATTGTGAAATTATGTTATTAGTATGATGAAATGAGCATGGTGGATGCAGTTGCCAGGTTGAACCCTGTCAGCTTCGCATATGAGGTGACATCTGATTTCATGCACTACAAGGATGGAATTTATACCAGGTTGGGATGAAATATGTATTTTCACTTCTATATTTTGGCATACATTTTAAAGTGCTTCATGATATAGCGCTACTTGAATAATAGCAAAGAGCTTAGAATCACCAAGAGCTGGCACTCAATAGAACGTTCCATTGCAACAGCAGCGCACAGCAGCAGCCCCGGATTCCGCCATTTTGGATTGAAAGCGATCGGCTGTCTATTATATCTTATTGCTGTTGCAATGACAAGCTGCTGCTTTTTTTTTTTTTTTAAGTGCATTAAAGCTGAGATACAACCTGAAAAACTACAATACAACACTTACTATCACAATCATCAGCACTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45641
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
ENSDART00000060245 Essential Splice Site 264 330 None 12

The following transcripts of ENSDARG00000041108 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 18 (position 26212070)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 26441063
GRCz11 18 26425581
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGAGGTGACATCTGATTTCATGCACTACAAGGATGGAATTTATACCAGG[T/C]TGGGATGAAATATGTATTTTCACTTCTATATTTTGGCATACATTTTAAAG
Long Flanking Sequence:
TGCTGATTGTGTTGAGTTGGACATTAAGGTTTTAAGAGTAAAGTCTAAAAGGGATAAACAACCTTTTAATCTTGTCACATGCTTTTTAGAGGACTCCCGAGTCATGCCTTTGAGTATATCATGTACAACAAAGGTCTTATGACAGAAGATGATTATCCCTACCAGGCTAAAGTGAGTACTTTACTCTTTTTTTTTTCTTACTGTTTTTAAAGGATCACTTATAAAGTCATGTAACCCATGCTTGTGTTTAGGGGGGTCAATGTAGATTCAAACCACAATTGGCTGCAGCTTTTGTGAAGGAAGTTGTAAACATCACAAAGGTAATTGATGGCGCATCTACAAGTATTAAACATTTGGTATGTCTGATTCTAATTGTGAAATTATGTTATTAGTATGATGAAATGAGCATGGTGGATGCAGTTGCCAGGTTGAACCCTGTCAGCTTCGCATATGAGGTGACATCTGATTTCATGCACTACAAGGATGGAATTTATACCAGG[T/C]TGGGATGAAATATGTATTTTCACTTCTATATTTTGGCATACATTTTAAAGTGCTTCATGATATAGCGCTACTTGAATAATAGCAAAGAGCTTAGAATCACCAAGAGCTGGCACTCAATAGAACGTTCCATTGCAACAGCAGCGCACAGCAGCAGCCCCGGATTCCGCCATTTTGGATTGAAAGCGATCGGCTGTCTATTATATCTTATTGCTGTTGCAATGACAAGCTGCTGCTTTTTTTTTTTTTTTAAGTGCATTAAAGCTGAGATACAACCTGAAAAACTACAATACAACACTTACTATCACAATCATCAGCACTTTTAATAGTCTATTTTACATACTTTTAATATGCTGTTGTTCTATTGGAATTTTCATTTCAAAATGGCCGTGGGGGCATCTAGTGGCTGTTTCCCAAATCGCACTAGAGTGTCACCTCTTGGTGATTCTATGCGCTTTGATAATAGTGCAAAAAATGTGCATCTAGTCAGTTATTATTCAAAG
Associated Phenotype:
Not determined