Busch Lab

ZMP

zgc:174855

Ensembl ID:
ENSDARG00000094559
ZFIN ID:
ZDB-GENE-071004-74
Description:
hypothetical protein LOC569326 [Source:RefSeq peptide;Acc:NP_001096592]
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 2 alleles of this gene:

Allele Name Consequence Status Availability
sa9764 Essential Splice Site Available for shipment Available now
sa42001 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa9764
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
ENSDART00000109968 Essential Splice Site None 335 1 8

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 12 (position 18008245)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 16819419
GRCz11 12 16941293
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACACACTCAATTGTAAGCAATTACAGTCAACAAGGTTTGCTTGTGAAAGG[T/A]AAGTGTAAATCTTNNNNCCCCCCCCCTCCTTTCCTTTATAGGAGACATTG
Long Flanking Sequence:
TTTCTAAATGGACTCTGTGTTTCCTCTTGCATTATTCTCTTGGATTAGTTTCTGTCTAAGCATGTGGAATTTGTCAAACACACCCTTATGTGACAAACACAAACAATGATTAAAACAAACGAAACAAACAGAATGTAACAAACCTAAAAAAAATCTCCACATCCCCCAATCAAGTGAAGCATATTCTAGTATGCTTTCCACTTGTGTATTGTAAATGTTGATTTTTATAAACTGTGGAAATAACAAAACATTTCTGATTGCCTTAATCTTGTTGCAGTCTACTAATAATATAAAGAATCACCATAGTCCATTGATGAATACTTCATCTTGTGATGCTGGATCACATGACAAGATGAAGCTCTTGCTGCACCTGATTGGCTGTAAATTGACTAGTTTCATCATCAACGTCAGCCAATGAGAGACCGTCTCTATGTTCAGACAGGCTATAAAACACACTCAATTGTAAGCAATTACAGTCAACAAGGTTTGCTTGTGAAAGG[T/A]AAGTGTAAATCTTTCTCCCCCCCCCCTCCTTTCCTTTATAGGAGACATTGCTTGTATTATATTAATGTGACATTTAGCTCAACTCACAGTAAAGTGAACTGCTTGTGCTGTTGCCTGTTTAAAGTGTTTTGTTAATGTTTGTAAATTTTCTTTACATTTGCTTTAAATAGAGATTTTTACTATTATTGTGTTTTTTTTTTCTGTTAGTCTTCCTGGCAGGATGATGTTTGCTTTGCTCATCACGCTGTGCATAAGTGCAGTGTTCACTGCTCCATCTATAGACATCCAGTTAGACGACCACTGGAACTCCTGGAAGAGCCAGCATGGAAAAAGCTATCATGAGGTGGGAAGACTGTAGTCTGTAGCCATGTATCAGCTTAACATGAATGAATGATGCAGTGCATGTGTTTATGTTGAACTGTTGCTTTGCAATAGCTGATACTGTATCTACTTTCTACTCCAGGACGTAGAGGTCGGGAGGAGAATGATTTGGGAGGAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42001
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
ENSDART00000109968 Essential Splice Site 133 335 4 8
Genomic Location (Zv9):
Chromosome 12 (position 18007185)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 16818359
GRCz11 12 16940233
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGGTTGACTGGAGACAGAGGGGCTATGTTACTCCTGTCAAAGACCAGG[T/A]GAGTTTAAAGTCACTGAAAACTGCAAATGTTTTATGCTAAATTAGGACCT
Long Flanking Sequence:
ATGGGAATGAATCAATTTGGTGACATGGTGAGCAGTTTAGTATTACAGTCAATTACAGTCATTTATTTCACTATCTATATTGCTTTATACAATCCAAATTGTCAAAAAGAGAAAAAAAGCAATTAAAATGCAAGATTCATAAGTGTGAAACCAGATCAGAATGTTGTTGTGTTTATTAAATGATTCAATTACAGTCAACAACATCCTAGATTGGAGATTTAAGCCCTGTGTGCTCTAAAAGATTTTCAGCAAAATTACTTTAATTCTCAATTTGCGGTGCTATCGATACCTTTTAAAGTACTATTTGTAAGGCTGTTTTAACATTTCACTACAATCTCTTTATTAGACAAATGAGGAGTTCAGACAGGCAATGAATGGTTATAAGCAGGACCCTAACCGGACGTCAAAGGGTGCATTGTTCATGGAACCCAGCTTTTTTGCAGCACCACAACAGGTTGACTGGAGACAGAGGGGCTATGTTACTCCTGTCAAAGACCAGG[T/A]GAGTTTAAAGTCACTGAAAACTGCAAATGTTTTATGCTAAATTAGGACCTATAGTTGCATCTATTACAATTGATCTATTTACAGTTGATCTGGTAAACCCAGTTTAATGTATAAATGGCTATTAAATGTCAGTATGTGTATCTGTAGCTTAACTGTTTGGTGACTCTTCTGTTTTGTGGTTTTAGAAACAATGTGGATCTTGCTGGTCTTTCAGTTCAACGGGTGCCTTGGAAGGTCAGCTCTTCCGTAAAACTGGAAAGCTGATTTCTATGAGTGAGCAAAACTTGGTGGACTGTTCCAGACCACAGGGCAATCAAGGGTGTAATGGAGGCATCATGGACCAGGCCTTCCAGTATGTTAAAGAAAACAAGGGGCTGGATTCTGAGCAGTCATACCCTTATCTTGCAAGGGTAAGAATCATATTGTGACAGTTTCTGAGCAATGAAACATTTTTATTTTTTTTGAAGACGGGAATAAACTGCTGTATTTGCAGATTGTGG
Associated Phenotype:
Not determined