Busch Lab

ZMP

zgc:174153

Ensembl ID:
ENSDARG00000079376
ZFIN ID:
ZDB-GENE-080215-7
Description:
hypothetical protein LOC567623 [Source:RefSeq peptide;Acc:NP_001104662]
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 4 alleles of this gene:

Allele Name Consequence Status Availability
sa27927 Nonsense Mutation detected in F1 DNA Not yet available
sa2650 Nonsense F2 line generated Not yet available
sa5599 Nonsense F2 line generated Not yet available
sa45457 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa27927
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113654 Nonsense 190 336 5 8
Genomic Location (Zv9):
Chromosome 12 (position 18017776)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 16828950
GRCz11 12 16950824
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGGGCAATCAAGGGTGTAATGGAGGCCTCATGGACCAGGCCTTCCAGTA[T/A]GTTAAAGAAAACAAGGGGCTGGATTCTGAGCAGTCATACCCTTATCTTGC
Long Flanking Sequence:
AGTTCAGACAGGCAATGAATGGTTATAAGCATGACCCCAACCAGACGTCACAGGGCCCGTTGTTCATGGAACCCAGCTTTTTTGCAGCCCCACAACAGGTTGACTGGAGACAGAGGGGCTATGTTACTCCTGTCAAAGACCAGGTGAGTTTAAAGTCACTGAAAACTGCAAATGTTTTATGCTAAATTAGGACCTATAGTTGCATCTATTACAATTGATCTATTTACAGTTGATCTGGTAAACCCAGTTTAATGTATAAATGGCTATTAAATGTCAGTATGTGTATCTGTAGCTTTACTGTTTTGTGACTCTTCTGTTTTGTGGTTTTAGAAACAATGTGGATCTTGCTGGTCTTTCAGTTCAACGGGTGCCTTGGAAGGTCAGCTCTTCCGTAAAACTGGAAAGCTGATTTCTATGAGTGAGCAAAACTTGGTGGACTGTTCCAGACCACAGGGCAATCAAGGGTGTAATGGAGGCCTCATGGACCAGGCCTTCCAGTA[T/A]GTTAAAGAAAACAAGGGGCTGGATTCTGAGCAGTCATACCCTTATCTTGCAAGGGTAAGAATCATATTGTGACGGTTTCTGAGCAATGAAACATTTTCTTTTGAAGATATGGGCCTAAACTGCTGTATTTGCAGATTGTGGAAAAATGTCATTTTAGTTTTTTAAACTCTTTGAATGAAGATCATTAAGTATTTTAAGACTTCAATGTACCACTTTTTTCTTATTTTAACTTTGTTCTTGCAGGATGATCTGCCATGCCGGTATGACCCCCGTTTTAATGTAGCTAAAATCACCGGATTCGTGGACATCCCCAGTGGTAATGAGCCTGCTCTGATGAATGCTGTTGCTGCTGTGGGTCCTGTATCTGTTGCTATTGACGCATCACATCAATCCCTACAGTTCTATCAGTCTGGTAGGTGTCTGATATCCCTCAACTCTAGTTTTAATTCAATATTTGCTAAAATGGTTGTTTATACAATTATTACAAACTTATTACTGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2650
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113654 Nonsense 262 336 6 8
ENSDART00000113654 Nonsense 262 336 6 8
Genomic Location (Zv9):
Chromosome 12 (position 18018181)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 16829355
GRCz11 12 16951229
KASP Assay ID:
554-3155.1 (used for ordering genotyping assays)
KASP Sequence:
GGTCCTGTATCTGTTGCTATTGACGCATCACATCAATCCCTACAGTTCTA[T/G]CAGTCTGGTAGGTGTCTGATATCCCTCAACTCTAGTTTTAATTCAATATT
Long Flanking Sequence:
CTGATTTCTATGAGTGAGCAAAACTTGGTGGACTGTTCCAGACCACAGGGCAATCAAGGGTGTAATGGAGGCCTCATGGACCAGGCCTTCCAGTATGTTAAAGAAAACAAGGGGCTGGATTCTGAGCAGTCATACCCTTATCTTGCAAGGGTAAGAATCATATTGTGACGGTTTCTGAGCAATGAAACATTTTCTTTTGAAGATATGGGCCTAAACTGCTGTATTTGCAGATTGTGGAAAAATGTCATTTTAGTTTTTTAAACTCTTTGAATGAAGATCATTAAGTATTTTAAGACTTCAATGTACCACTTTTTTCTTATTTTAACTTTGTTCTTGCAGGATGATCTGCCATGCCGGTATGACCCCCGTTTTAATGTAGCTAAAATCACCGGATTCGTGGACATCCCCAGTGGTAATGAGCCTGCTCTGATGAATGCTGTTGCTGCTGTGGGTCCTGTATCTGTTGCTATTGACGCATCACATCAATCCCTACAGTTCTA[T/G]CAGTCTGGTAGGTGTCTGATATCCCTCAACTCTAGTTTTAATTCAATATTTGCTAAAATGGTTGTTTATACAATTATTACAAACTTATTACTGAACTTACTTTGCCTTAACTCCTAATATTCTGATCTTTAGGCATCTATTATGAGAGAGCATGTAGCAGTAGTCGACTTGATCATGCAGTCTTGGTGGTTGGCTATGGTTATCAGGGTGCTGATGTTGCTGGGAATAGATACTGGATTGTGAAGAACAGGTATGATGCAAACAATCTTTAGTTTTGCGGGCACAAGCTTGATTGCATGTTTTCATATTTTATTATTTCTTTCAATTTTTTTAGCTGGTCTGACAAATGGGGTGACAAAGGCTACATCTACATGGCAAAAGACAAAAACAATCACTGTGGCGTTGCGACAAAGGCCAGCTATCCCCTAATGTAAGGCCACTGAAGCCTTCTCTGCATTCTGAAAAAGTCACGTTTATTGTTTCTCTATTTTAATGTGTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5599
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113654 Nonsense 262 336 6 8
ENSDART00000113654 Nonsense 262 336 6 8
Genomic Location (Zv9):
Chromosome 12 (position 18018181)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 16829355
GRCz11 12 16951229
KASP Assay ID:
554-3155.1 (used for ordering genotyping assays)
KASP Sequence:
GGTCCTGTATCTGTTGCTATTGACGCATCACATCAATCCCTACAGTTCTA[T/G]CAGTCTGGTAGGTGTCTGATATCCCTCAACTCTAGTTTTAATTCAATATT
Long Flanking Sequence:
CTGATTTCTATGAGTGAGCAAAACTTGGTGGACTGTTCCAGACCACAGGGCAATCAAGGGTGTAATGGAGGCCTCATGGACCAGGCCTTCCAGTATGTTAAAGAAAACAAGGGGCTGGATTCTGAGCAGTCATACCCTTATCTTGCAAGGGTAAGAATCATATTGTGACGGTTTCTGAGCAATGAAACATTTTCTTTTGAAGATATGGGCCTAAACTGCTGTATTTGCAGATTGTGGAAAAATGTCATTTTAGTTTTTTAAACTCTTTGAATGAAGATCATTAAGTATTTTAAGACTTCAATGTACCACTTTTTTCTTATTTTAACTTTGTTCTTGCAGGATGATCTGCCATGCCGGTATGACCCCCGTTTTAATGTAGCTAAAATCACCGGATTCGTGGACATCCCCAGTGGTAATGAGCCTGCTCTGATGAATGCTGTTGCTGCTGTGGGTCCTGTATCTGTTGCTATTGACGCATCACATCAATCCCTACAGTTCTA[T/G]CAGTCTGGTAGGTGTCTGATATCCCTCAACTCTAGTTTTAATTCAATATTTGCTAAAATGGTTGTTTATACAATTATTACAAACTTATTACTGAACTTACTTTGCCTTAACTCCTAATATTCTGATCTTTAGGCATCTATTATGAGAGAGCATGTAGCAGTAGTCGACTTGATCATGCAGTCTTGGTGGTTGGCTATGGTTATCAGGGTGCTGATGTTGCTGGGAATAGATACTGGATTGTGAAGAACAGGTATGATGCAAACAATCTTTAGTTTTGCGGGCACAAGCTTGATTGCATGTTTTCATATTTTATTATTTCTTTCAATTTTTTTAGCTGGTCTGACAAATGGGGTGACAAAGGCTACATCTACATGGCAAAAGACAAAAACAATCACTGTGGCGTTGCGACAAAGGCCAGCTATCCCCTAATGTAAGGCCACTGAAGCCTTCTCTGCATTCTGAAAAAGTCACGTTTATTGTTTCTCTATTTTAATGTGTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45457
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113654 Essential Splice Site 304 336 8 8
Genomic Location (Zv9):
Chromosome 12 (position 18018514)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 16829688
GRCz11 12 16951562
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAAGCTTGATTGCATGTTTTCATATTTTATTATTTCTTTCAATTTTTTT[A/G]GCTGGTCTGACAAATGGGGTGACAAAGGCTACATCTACATGGCAAAAGAC
Long Flanking Sequence:
TTGCAGGATGATCTGCCATGCCGGTATGACCCCCGTTTTAATGTAGCTAAAATCACCGGATTCGTGGACATCCCCAGTGGTAATGAGCCTGCTCTGATGAATGCTGTTGCTGCTGTGGGTCCTGTATCTGTTGCTATTGACGCATCACATCAATCCCTACAGTTCTATCAGTCTGGTAGGTGTCTGATATCCCTCAACTCTAGTTTTAATTCAATATTTGCTAAAATGGTTGTTTATACAATTATTACAAACTTATTACTGAACTTACTTTGCCTTAACTCCTAATATTCTGATCTTTAGGCATCTATTATGAGAGAGCATGTAGCAGTAGTCGACTTGATCATGCAGTCTTGGTGGTTGGCTATGGTTATCAGGGTGCTGATGTTGCTGGGAATAGATACTGGATTGTGAAGAACAGGTATGATGCAAACAATCTTTAGTTTTGCGGGCACAAGCTTGATTGCATGTTTTCATATTTTATTATTTCTTTCAATTTTTTT[A/G]GCTGGTCTGACAAATGGGGTGACAAAGGCTACATCTACATGGCAAAAGACAAAAACAATCACTGTGGCGTTGCGACAAAGGCCAGCTATCCCCTAATGTAAGGCCACTGAAGCCTTCTCTGCATTCTGAAAAAGTCACGTTTATTGTTTCTCTATTTTAATGTGTTTTTATTTCTTCTATTTTATCAAGTTGTTCTGATGTTAGTGCTATGATATGTAGTTGTCTTACTTTGTTATTTTTTCTTTTGTTTAATAAAGTGTCATGGTTTTAGTTTGGAACACTGAAAATATATTTTGAGCAAGTGTCTTCTATAAAAACACGTAAGGCATCACTATGTCAAAATTTGGCTAAGGTTCAGGTCAAAACTGAACTCATGCATCTACTGCAGCCACCATTGGCATATGTGGAAACTGCCTTTTCCATTCAAAGTCCATGAGCTATTAATATATTAGAACTTCTCCAGTTGCCCAAAACACCCTTAGATCTCTTCATCTATTTTT
Associated Phenotype:
Not determined