ZMP
capn8
Ensembl ID:
ZFIN ID:
Description:
Novel calpain family protein (Zgc:112467) [Source:UniProtKB/TrEMBL;Acc:A5WWC4]
Mouse Orthologue:
Capn8
Mouse Description:
calpain 8 Gene [Source:MGI Symbol;Acc:MGI:2181366]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa5973 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa29806 | Missense, Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa5973
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000078111 | Essential Splice Site | 544 | 701 | 14 | 21 |
ENSDART00000144585 | Essential Splice Site | 544 | 700 | 14 | 21 |
Genomic Location (Zv9):
Chromosome 22 (position 27216016)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 22 | 26609547 |
KASP Assay ID:
554-3701.1 (used for ordering genotyping assays)
KASP Sequence:
AGATATAGACCCACATTTCAAACGCCTCTTCAGTCARGTTGCTGGAAGCG[T/A]AAGTCACAACTGGTCAATATAAATTTGAATCATTATCATGATTTTTCCCA
Long Flanking Sequence:
ATGTGAAAAAGGTGTGTTTATCTTTGATTTATAGAGTACAAAACACAGACACACTCACACAAATACTTGCAAATATGGTTTATGAAGACTCCAGAGACGCAATGTACTTTAAACTGTAAAAACTGTTTATTAAATGACCGTATCCTACCCCTAAATTTAATCTGGAAACCAAGAAATTGCTAAATTGGTATGCCAAAAGTGTATGCAAGTCCTCATAAACCAGAATAACAGAATACAATTACAGTAGATCATACTCATGTCATTATACAATTTTGAAACATTAATGTATAATTTTACATAACATAATACAAAATAATCCACATAATCAAGTACAGACACATTATATAAATTACATACTGTATATAACACATTTAACCTTGTGTTCCTATTTTCTTTTAAACAAACATTCAAGGTGCATTTTTTTCCTTCCTAGCATTTCATATCTGAGAAAGATATAGACCCACATTTCAAACGCCTCTTCAGTCAGGTTGCTGGAAGCG[T/A]AAGTCACAACTGGTCAATATAAATTTGAATCATTATCATGATTTTTCCCAGTTAGCATGATCTTCTCTTCCCTCTGTAGGACTCTGAGGTCTCTGTATTGGAGCTCCAGCAGATCCTGAACACCGTTGTCTCGAAACGTAAGAAAACACATTAACTTTTTTTTATTGACATATTTTAAATGTCTGAATTTTGCATTGGAAACTGCCTTGAAATAACTTCACCATCCTGCTGATAATTCTCACCTCAGGATCTAATGTGAAGACAGACGGATTCAGTTTGGAAACCTGCCGTCACATTATCAGCCTGCTAGATGTATCCTTACCTCACTGGTTCATTGAATGGAAACTACAGATGTTATTGAAGAAACTAATTTAAAGATATGGCAGCATCTGCCTGTATTCATTTCTCTAGTGTACTTTGCATCATTAGGCATTTTAACCCTTGACCCCAGTGCAGAAAGATGGCAGTGGCAAACTCGGCCTTCTGGAGTTTCACACACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa29806
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 > T
Consequence:
Missense, Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000078111 | Missense | 564 | 701 | 15 | 21 |
ENSDART00000144585 | Nonsense | 564 | 700 | 15 | 21 |
Genomic Location (Zv9):
Chromosome 22 (position 27215879)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 22 | 26609684 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGTCTCTGTATTGGAGCTCCAGCAGATCCTGAACACCGTTGTCTCGAAA[C/T]GTAAGAAAACACATTAACTTTTTTTTATTGACATATTTTAAATGTCTGAA
Long Flanking Sequence:
CCGTATCCTACCCCTAAATTTAATCTGGAAACCAAGAAATTGCTAAATTGGTATGCCAAAAGTGTATGCAAGTCCTCATAAACCAGAATAACAGAATACAATTACAGTAGATCATACTCATGTCATTATACAATTTTGAAACATTAATGTATAATTTTACATAACATAATACAAAATAATCCACATAATCAAGTACAGACACATTATATAAATTACATACTGTATATAACACATTTAACCTTGTGTTCCTATTTTCTTTTAAACAAACATTCAAGGTGCATTTTTTTCCTTCCTAGCATTTCATATCTGAGAAAGATATAGACCCACATTTCAAACGCCTCTTCAGTCAGGTTGCTGGAAGCGTAAGTCACAACTGGTCAATATAAATTTGAATCATTATCATGATTTTTCCCAGTTAGCATGATCTTCTCTTCCCTCTGTAGGACTCTGAGGTCTCTGTATTGGAGCTCCAGCAGATCCTGAACACCGTTGTCTCGAAA[C/T]GTAAGAAAACACATTAACTTTTTTTTATTGACATATTTTAAATGTCTGAATTTTGCATTGGAAACTGCCTTGAAATAACTTCACCATCCTGCTGATAATTCTCACCTCAGGATCTAATGTGAAGACAGACGGATTCAGTTTGGAAACCTGCCGTCACATTATCAGCCTGCTAGATGTATCCTTACCTCACTGGTTCATTGAATGGAAACTACAGATGTTATTGAAGAAACTAATTTAAAGATATGGCAGCATCTGCCTGTATTCATTTCTCTAGTGTACTTTGCATCATTAGGCATTTTAACCCTTGACCCCAGTGCAGAAAGATGGCAGTGGCAAACTCGGCCTTCTGGAGTTTCACACACTGTGGATGAAGATCCAGAAATATTTGGTAAAATTTATATTTCGATCAAATTTTAAATGAATTACTTTCAGCCTTACTTTTTGAATGATGATAATAATAAAATAATAATAATCATCATCATCATCGTTCAGTTTGATGT
Associated Phenotype:
Not determined