ZMP
ccbl1
Ensembl ID:
ZFIN ID:
Description:
cysteine conjugate-beta lyase; cytoplasmic [Source:RefSeq peptide;Acc:NP_998524]
Human Orthologue:
CCBL1
Human Description:
cysteine conjugate-beta lyase, cytoplasmic [Source:HGNC Symbol;Acc:1564]
Mouse Orthologue:
Ccbl1
Mouse Description:
cysteine conjugate-beta lyase 1 Gene [Source:MGI Symbol;Acc:MGI:1917516]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa33646 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa26513 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa33646
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000004797 | Essential Splice Site | 215 | 446 | None | 14 |
ENSDART00000126999 | Essential Splice Site | 189 | 426 | None | 13 |
ENSDART00000143435 | None | None | 43 | None | 2 |
ENSDART00000145222 | None | None | 73 | None | 4 |
The following transcripts of ENSDARG00000023645 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 34887610)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 32669559 |
GRCz11 | 5 | 33269712 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTAAGGTCAAGTATGTCCAGCCTAAGCTTAACCTTCTTCTTTATTTACCC[A/C]GGTCTATCAATGGGAGGAACTTCAGGTTATTGCAGACTTATGCATTAAAC
Long Flanking Sequence:
CAAAGCCATGATACATTTTCTATAATTAATTTATCATAAAAGGTTCAGCATATCTTTGGTTTTGCTAATCTTTAACTTGCTAAATGCAATTGCAGAATTCCATTTTAAAGCAGTAATTCGCTGTTTACTTACACTCAAGTGGCTTTAAACTTTTATGAAGTTCTTTTGTTATTCAATTGAACACACGGAGGATAATCTAAAGAATGTTGTAAAGCAGCAGCCATTGATATCAAGAGTAGGATCAAAAATACTTTGGAAGTCATTGGCTGCTGCTTTTTAATAGTCTTCAATAACTGTTTTTTTCAGGTTTAAAATACGTGAGAGTAAATAAACAGAATTTAAGTTTTAGGATGAAATATCTCTTTAAAACTTTTTGAATCTAACAGACCTAATATTTATACGCTTATATAATTTTAATCTCTCATTTTAATCACAGAGTTGCAACTGCAATTAAGGTCAAGTATGTCCAGCCTAAGCTTAACCTTCTTCTTTATTTACCC[A/C]GGTCTATCAATGGGAGGAACTTCAGGTTATTGCAGACTTATGCATTAAACATGACGTCATTTGCATTAGTGATGAGGTGTACGAGTGGCTCACATATGATGGAGCGAAGCATGTAAAGATCGGTAAAAGCAGAACTCTGCAAGTAACTCCAATGACAGTTTTGTGGACTTTTAAATGAGCAGAACTTTCCTTTTTTCAGCCAGTCTGCCAGGTATGTGGGAACGTACTGTCACCATCGGCAGTGCAGGAAAGACCTTCAGTGCCACAGGATGGAAGGTAAGCTAGTCACAATCAACAGGGTTTGTTTCTTCACTAGTTGTTTTGCCTGTGTTGATCAGATCTCATCTGAATGTAGGTGGGTTGGGCAATAGGATCAGGGCATATCATGAAGCACTTGAAAACCGTCCATCAGAACTCAGTGTATCACTGTGCCACAGCTGCCCAGGTAAAACTGTGCTTATTTGTTTTAAGGGTAATGTTTGTAATGTTTTTATTATTTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa26513
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000004797 | None | None | 446 | None | 14 |
ENSDART00000126999 | Nonsense | 422 | 426 | 13 | 13 |
ENSDART00000143435 | None | None | 43 | None | 2 |
ENSDART00000145222 | None | None | 73 | None | 4 |
The following transcripts of ENSDARG00000023645 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 34884040)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 32665989 |
GRCz11 | 5 | 33266142 |
KASP Assay ID:
2259-6100.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGATTGGTAGGATTTTTTGAAAGGTTTTGGAAAGAAATGTCTTCTGCCTG[C/A]CAAGGTTGCATTTGTTTGCAAAACTTTATTTAGGACACGTTTAATGAGCA
Long Flanking Sequence:
AAGAAATTACACATTAATATTTTTATATAACACCCTGTATTATGTTCAGCCATTTTTAGTAAAGGTCCTGTAAACTACCTCATACTTTTGCAAGAAAATCAAAACACAAATCTGTACTTTCTCAGTTCTTCAGAAGAAAGCAATTATGAGGCATTGAGTCACACACTGGTTTGTTTTGAAAACGGAACATGCTTTGCCGATTTCAGCATGGGAATAAAACAAATGTGAATGAACTCTCTATGGTGGATTGTCATTTTTGTTGGATGCTGTTAGATAATAAAAAGTAACATCCTTTATTTTGACGTGTCTGCATGTGTTTTCAGGAATATTGGCTAATCAGTTTTTACCACAGAGAAAACATCCCCTAAAAAGTATCCCAAGGAAAAGTGCGGGTTACTTTTTTATGTTTAAAATCCTCTCCATTATTTGTACACACAGCTGTTCAAACTGGGATTGGTAGGATTTTTTGAAAGGTTTTGGAAAGAAATGTCTTCTGCCTG[C/A]CAAGGTTGCATTTGTTTGCAAAACTTTATTTAGGACACGTTTAATGAGCAAGCACGACATTGTCTGTTAAACTCATAACTCAATTTGTGAAAATGTAAAAAAAAAAAAAAAAAAAAAAAAGGGCAAAAAGTCATGGCAGCTAATGTTTTAGTTACTTATTTTAATAAATTATTCGAGTTTCAACTATTTTTATACAGAGTTTATTTAATATTTTTAGTCAGTTTGATTGATGCAATTTGAAAATGACTAGAAAAGTCAAAGGTGCAGTAAGTGATTGTTTTCAGAAACTTTTTTTTGTGTGCTGGTTGAAAGTCTCTTCACATTCCTATATAATGATTAAAGTAAATGATCTAAATGTATTTATATGTATTTTTTATATTCTGGCTAAGGCAGAAAACTAAAAAAATGTTTGTCCAATTAAATGTTGTGGGCCGACAATTCCTATAATTCTGATAAGTAGCCCAAACTGTCTGTCAGCATATGTAGATTTGTACATCTGT
Associated Phenotype:
Not determined