Busch Lab

ZMP

ctsl1a

Ensembl ID:
ENSDARG00000007836
ZFIN ID:
ZDB-GENE-030131-106
Description:
cathepsin L, 1 a [Source:RefSeq peptide;Acc:NP_997749]
Human Orthologues:
CTSL1, CTSL2
Human Descriptions:
cathepsin L1 [Source:HGNC Symbol;Acc:2537]
cathepsin L2 [Source:HGNC Symbol;Acc:2538]
Mouse Orthologues:
4930486L24Rik, BC051665, Cts3, Cts6, Cts7, Cts8, Ctsj, Ctsl, Ctsll3, Ctsm, Ctsq, Ctsr
Mouse Descriptions:
RIKEN cDNA 4930486L24 gene Gene [Source:MGI Symbol;Acc:MGI:1922258]
cDNA sequence BC051665 Gene [Source:MGI Symbol;Acc:MGI:2682300]
cathepsin 3 Gene [Source:MGI Symbol;Acc:MGI:2151929]
cathepsin 6 Gene [Source:MGI Symbol;Acc:MGI:1889619]
cathepsin 7 Gene [Source:MGI Symbol;Acc:MGI:1860262]
cathepsin 8 Gene [Source:MGI Symbol;Acc:MGI:1860275]
cathepsin J Gene [Source:MGI Symbol;Acc:MGI:1349426]
cathepsin L Gene [Source:MGI Symbol;Acc:MGI:88564]
cathepsin L-like 3 Gene [Source:MGI Symbol;Acc:MGI:1917452]
cathepsin M Gene [Source:MGI Symbol;Acc:MGI:1927229]
cathepsin Q Gene [Source:MGI Symbol;Acc:MGI:2137385]
cathepsin R Gene [Source:MGI Symbol;Acc:MGI:1861723]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa6998 Nonsense Mutation detected in F1 DNA Not yet available
sa40539 Nonsense Mutation detected in F1 DNA Not yet available
sa20514 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa6998
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000012361 Nonsense 24 337 1 7
ENSDART00000122288 Nonsense 24 337 2 8
ENSDART00000136965 Nonsense 24 203 2 5
ENSDART00000141198 Nonsense 24 195 2 5

The following transcripts of ENSDARG00000007836 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 46425035)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 44206300
GRCz11 5 44806453
KASP Assay ID:
554-4967.1 (used for ordering genotyping assays)
KASP Sequence:
CTTTTACCTTGTGCCTCAGCGCTGTGTTCGCTGCTCCTACTTTRGACCAG[C/T]AATTAAATGATCATTGGGATCAGTGGAAGAAATGGCACAGTAAAAAATAC
Long Flanking Sequence:
TCTAAAGTGACCATAAATGCATTTGTTACAAACCTACAGGTTTCAAACACTAATGTAATTGAACACTGCAAAGTAGCATTTTATTGTAATTTCCTCAAATTTGAAGCACAAAAAACAACAACTTGACACTATTATATTTATAATATTTAGTTAAAACGATCATTAAATAATGGCCGAGCACCAGTGAGCAAATCAGCATATTAATATGACTTCCATTGTGTCTTCATTTGTCACAGAAGACCAACAATTGAGCATTTTTAAAAATTGAATAAATGATAAAATAAGATGATTTAAAACCATAAGGGTAGCAAAAAAGTAAACCGGATGTTTGACATGATCTCTTTGCATGTGTTGTGTTGTTTTTAAATTTCATGGTCACTTGTTGCAACATGTCTGACCTGTTGTTGTTTTTCCCCCCCAGTGTTTTCATCATGAGGGTGTTCTTGGCTGCTTTTACCTTGTGCCTCAGCGCTGTGTTCGCTGCTCCTACTTTGGACCAG[C/T]AATTAAATGATCATTGGGATCAGTGGAAGAAATGGCACAGTAAAAAATACCATGCAGTGAGTGTCTAAAGCTCATCGTTTATTTCCAGTTTACATCCATTGAATGAAGAACTGTTGAACATTTTGCTTTCTCTTAACAGACAGAGGAAGGGTGGAGAAGGATAATCTGGGAGAAAAACTTGAAAAAGATTGAAATGCACAATCTGGAGCACTCCATGGGCATACACACCTACAGACTCGGAATGAACCACTTTGGAGACATGGTATGATTGCAAAAGTTGTTTGTATAAGGCGTTTGCATATTGATTTTATGAAATTCCTTCAGCATTTTAGCTAAATTTTTCTGTGTCTGCAGACTCACGAGGAGTTCAGACAGGTGATGAATGGTTTCAAACACAAGAAAGACAGACGATTCAGAGGATCCCTGTTCATGGAGCCCAACTTCATTGAGGTCCCAAACAAGCTGGACTGGAGAGAGAAGGGATATGTGACTCCTGTGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40539
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000012361 Nonsense 102 337 3 7
ENSDART00000122288 Nonsense 102 337 4 8
ENSDART00000136965 Nonsense 102 203 4 5
ENSDART00000141198 Nonsense 102 195 4 5

The following transcripts of ENSDARG00000007836 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 46425444)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 44206709
GRCz11 5 44806862
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACGAGGAGTTCAGACAGGTGATGAATGGTTTCAAACACAAGAAAGACAGA[C/T]GATTCAGAGGATCCCTGTTCATGGAGCCCAACTTCATTGAGGTCCCAAAC
Long Flanking Sequence:
TTTCCCCCCCAGTGTTTTCATCATGAGGGTGTTCTTGGCTGCTTTTACCTTGTGCCTCAGCGCTGTGTTCGCTGCTCCTACTTTGGACCAGCAATTAAATGATCATTGGGATCAGTGGAAGAAATGGCACAGTAAAAAATACCATGCAGTGAGTGTCTAAAGCTCATCGTTTATTTCCAGTTTACATCCATTGAATGAAGAACTGTTGAACATTTTGCTTTCTCTTAACAGACAGAGGAAGGGTGGAGAAGGATAATCTGGGAGAAAAACTTGAAAAAGATTGAAATGCACAATCTGGAGCACTCCATGGGCATACACACCTACAGACTCGGAATGAACCACTTTGGAGACATGGTATGATTGCAAAAGTTGTTTGTATAAGGCGTTTGCATATTGATTTTATGAAATTCCTTCAGCATTTTAGCTAAATTTTTCTGTGTCTGCAGACTCACGAGGAGTTCAGACAGGTGATGAATGGTTTCAAACACAAGAAAGACAGA[C/T]GATTCAGAGGATCCCTGTTCATGGAGCCCAACTTCATTGAGGTCCCAAACAAGCTGGACTGGAGAGAGAAGGGATATGTGACTCCTGTGAAAGATCAGGTGAGACAAAAATGATGTGCCTTTTTTTATATGAAACATAACTCTAGAAAACAAAAAAACTGGTCGTTCCAGTTTGGAAGTTTGATGTAAATTCTGCTTGTAATGTATGTAAACCATATACTCTGACAAGGCTTGAGCTAGGGATTCAGTGTTTGTTTAAACAAATGCTTTTGATTTTAAATACAATGGCCCCCATTTTGCACAACAACATTCAATGTTCTGTAGCCTTTAGTTGAGGAATTATTCTTTTAATTTAAGGCTTAGGGGCAAGATAATGAATGCTACCTCTCAGTATACTTTAATGAAATAAAAGTTGAAGGAAAACTAAAACGGGTTATTGAAATATCGGTACCCTCAGTTTCTGTAAAGCAAAATATGTTATGATGACTAGTATGTGTCACG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20514
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000012361 Nonsense 195 337 4 7
ENSDART00000122288 Nonsense 195 337 5 8
ENSDART00000136965 Nonsense 195 203 5 5
ENSDART00000141198 Nonsense 195 195 5 5

The following transcripts of ENSDARG00000007836 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 46427280)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 44208545
GRCz11 5 44808698
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGGCTGCAACGGAGGTCTCATGGACCAGGCCTTCCAGTACGTCAAGGAC[C/T]AGAATGGTCTCGACTCTGAGGAATCCTACCCCTACCTGGGAACTGTAAGT
Long Flanking Sequence:
TTTTATCTATTTATAATTAATATATTTGTCAGTAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCCACGAATTTGCTTTTATGTATTATGTATATCCATTTTGCAAAGAAATAGCCATAAGTTGCTGATGTGGCAATGAAATGATAGATAAATAAATAAATAAATAAATAAATAAATAAATTCAAAAGTTTTCCAATGTTCTTCAAAATATCGCAGTCGTTACGAATCATTTGAAGGGAAGTTTTAGTTTTGTGTAAACTCCCTCTAAAGGCTCCAATCTATTGCTCTAAACATGATCAAATGTGGTATTTTCAGGGTGAGTGTGGTTCTTGCTGGGCTTTTAGCACAACCGGAGCCCTGGAGGGTCAGATGTTCAGGAAGACTGGAAAATTGGTGTCTTTGAGCGAGCAGAACCTGGTGGACTGCTCCCGTCCTGAAGGCAATGAGGGCTGCAACGGAGGTCTCATGGACCAGGCCTTCCAGTACGTCAAGGAC[C/T]AGAATGGTCTCGACTCTGAGGAATCCTACCCCTACCTGGGAACTGTAAGTTGCATCTTATTTCTGTGAATTTATTCTGTTTTTGTTGCATAAAAGATTACGATAACTTATCTGTGTATCGTTATTTCAGGACGATCAGCCCTGCCATTTTGATCCCAAAAACAGCGCAGCAAATGACACCGGATTCGTTGACATTCCCAGTGGAAAGGAGCGTGCTCTGATGAAAGCTATAGCTGCTGTGGGACCTGTCTCTGTGGCTATTGATGCTGGACATGAGTCTTTCCAGTTTTACCAGTCAGGTGGGAATATTTTCAACCATTTTAGACCGTTTTAGAGATGAGCATGCACTTATGGCACAGTGTTTCAAAATGCACTCCATTTGGTAGCATGTATGAACATTGGTTAACAAGCACATGAGAAAGATTTGGCGATTGCATAGATTCATATGGACATCTGTTTTTTTTGTTTTTTTTTCCCCTTTCCTTTCTGCTTTAGTAGGTT
Associated Phenotype:
Not determined