ZMP
ENSDARG00000061850
Ensembl ID:
Human Orthologue:
CAPN5
Human Description:
calpain 5 [Source:HGNC Symbol;Acc:1482]
Mouse Orthologue:
Capn5
Mouse Description:
calpain 5 Gene [Source:MGI Symbol;Acc:MGI:1100859]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa6077 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa34042 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa34043 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa20907 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa6077
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000088686 | Nonsense | 52 | 641 | 1 | 13 |
Genomic Location (Zv9):
Chromosome 7 (position 21633537)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 20223973 |
GRCz11 | 7 | 20475941 |
KASP Assay ID:
554-3723.1 (used for ordering genotyping assays)
KASP Sequence:
CAGCCGAGTCGCTCTTCTACAGAAGGACGCCCCCTCCAGGACTGACATGG[A/T]AGAGACCCAGCGTATGAGTATCCTTTTTTGATTGTGCAAGTGCTAANNNNTAGT
Long Flanking Sequence:
TGAAACTGAAGCTAAACTCATGGGTTCAGAACAACACTACACATTGTGCTTTACAGACCTTGCTAGATCTGGACAAAGGCATCACATAAATACCAGAAGCTTTTATTTCAATTACTAGGATATATAAATATACTTTTTAATCACTATTTTCTAAAACTGGCATGTCTTAGTTGTATTTTAAACAATCATTGAAAAAATATTATGTGACCGTTTATCTCATGTTGATTTTTTATTATTCTGTGTTTTATTTCTGAATAATCATCTACATAGGTTGATCTGAAATACAATTTCAGAACTCAGATCACCCATCTCTTCTTTATCCTTCTTTTCTCAGATCTTTGTGCAGTATGCCAGAAAAAGTCTACAGGTTTCAAGGTCAGTGTTATCATAAGCTGAAAAGATCATGTCTGAGGCGAGGGGCTCTGTTCCAAGATCCACTCTTTCCTCCTTCAGCCGAGTCGCTCTTCTACAGAAGGACGCCCCCTCCAGGACTGACATGG[A/T]AGAGACCCAGCGTATGAGTATCCTTTTTTGATTGTGCAAGTGCTAATAGTTAGTTTAATCAAAATTTGGGAGTATCACTACTCTCCAACATTTAGCTTTTGAATATCAGTAGAGTGGATGTACCTCAGTGACTCTTCTGTTTCTAAATGTGTCTGCACTGTCAGCATCATAAGAGATATGTTTAATTAAAGGCCTTTCTGCCAGCTGCAAGGCGTCGGGAACCTGACTCCTTGTAGAGTACGTGTGTCACGTGTATGGCTCCAAATGAAAAAGATTACCAGCATATTATGCTGCATTTACACATGCTATTCTGATTGAACTAAACAAACAAACCAACCAAAGAACCATTAAAGAAGCAATATGTTGATAATTTCAAAGAAGTCTATAAAAGCAGAAATTATAAATTAGGGAAAAGATTAATGAAAAATTAGTGTCTGCCATTGTTATTAATATCTAAAGAGCAAACTATCTATTTATAAATGGCATACAATTGTTCAATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34042
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000088686 | Nonsense | 245 | 641 | 5 | 13 |
Genomic Location (Zv9):
Chromosome 7 (position 21635270)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 20225706 |
GRCz11 | 7 | 20477674 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATTTTTTGTGTGTTACAGCCAGCAGAAGGGGAGGCTTTAGAATCAGTTT[T/A]GGACTGTGGACTAATAAAAGGTCATGCATATGGTGTGACTGCTGTCAAAA
Long Flanking Sequence:
TCGGTCTGCAACGCCACGAGAATTCTGGAGCGCTTTGCTAGAGAAAGCCTATGCCAAGTAAGACATTTGGTAAATACACTCTTAAAGTGAATATTATTTCAAATTAATATTCTCTCTCTCTCTGTCTTTCTTAGGCTAAATGGGTGTTATGAGGCTCTCGAGGGAGGTAATACAGCAGAAGCTCTAGTTGATTTTACTGGCGGCGTCTCTGAACCATTGAGTCTGAATCAGGAAGAGCTGATCCAGCACGCTGACCAGAGAAAAATACTGTTCCAGACACTAGCCCATGCACACAGCCATAAAGCACTCATCACCTGCTCAATTCGGGTAAGAAAGCATAAGGAAAACACTTTTTAAAGTAACACTCTGCAAATCCTAGATAAATATAAATAAACAATGACATATTCAGTCACACAACTCTTATGTTTAACTCTTTTAACTCTCTTAACACATTTTTTGTGTGTTACAGCCAGCAGAAGGGGAGGCTTTAGAATCAGTTT[T/A]GGACTGTGGACTAATAAAAGGTCATGCATATGGTGTGACTGCTGTCAAAAAACTCCGTATGTCAGAGACTCTGCATAGCATGTGTAATGCATCTCGTCTGTACATGGTGCGAATAAGGAACCCTTGGGGCACAACAGACTGGACAGGAGCTTGGGGTCTAGGGTGAGTTCATTTATATTTATTTTTCTCAGAATCCCAAAAAATTTTACGATTCTGTTATAAGACAAATATTTTAACAAACATTTATGTTAAGAAGAGAGTTTGAGGGCCTGTGTACTCAATGAACCTGGTCTCTATGCTAGAAATAAAGCATTCCAATAAGAGCAGACTTCATGTGTTAACATAAAGATTACTAGCATCTATAAATAGAATCACATTAAATTCGAGAGTTTAGAATAATTAGTTTTAGAAAAGTTGTACTAAAAATAAAATTGTACTATTTCAAACTGTTCTTTAGTTTAATAATATAAACATAACATGTATTTAACTAGAATAGTATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34043
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000088686 | Essential Splice Site | 495 | 641 | 10 | 13 |
Genomic Location (Zv9):
Chromosome 7 (position 21657675)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 20248111 |
GRCz11 | 7 | 20500079 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCCTGGTGCTACTGGGCGGTTCCTTCTGCGTTTTTTCTCACACTCACAT[G/A]TGCGCCTCAGGTAGAGACAAGAGAATTGGCCCTTTGCTAGCTCTGCTCTT
Long Flanking Sequence:
TAAAGAGCTGATGAGTTGCAGATGCCAGAGAAATATTAACACACACATTTTGTGATTTGCATTTTTTTTTAAAGGTTTTTGTTTTTCTTGGACTTGTTTTGCCTTAGTGTTTTCCTTAGTCCATTCACTCTTAATTTTTGATTTTGGCTTTTCCTTATTTAATTTTTACTAAATAAGGCCAATTGTTTACTATGCACCTTATATTTGAGGTATATATAATCAATTGTATCTAACTTTTGTATCTTTCATAGTAAGTCATTGTGAATCTCTAGACTGCCCGCTACAATGTTTCTTCTTACTTTGCTTCCCTTCAGGTGGAGGTGAACCGTGTGTGTCGAGTACAGTGTTTATGTGAACAGACTGCTAGTTCTGTATATATGGATTCACGCAGTGTCACACTACGAGTGACTCTTGGTCCTGGTCGTTATGTTATCCTCCCTACCACTTTCCAGCCTGGTGCTACTGGGCGGTTCCTTCTGCGTTTTTTCTCACACTCACAT[G/A]TGCGCCTCAGGTAGAGACAAGAGAATTGGCCCTTTGCTAGCTCTGCTCTTTTGCATACAAACAAGCAAACATTTGATAAGTAAACATAATATCAAACGATTACATGTTTTTTTAATATATCAGTCAGTTTATTTTATTTATTTTCTTTTTTGTTTCCATTTACATATTTAAGGTAGCTTATTGGGATGGCCTGGTGTTTTTGTCTTTCTTACTAATCTCTCCTGTTCTTTTTTTTGGTCTAATGTCTTCAGGGAATTGAAGGAAGAGCTTCCTGCTCCTTCAATGTGGCGGTGTTGTATACCTGACTCTAGTGCCGTAACTACTGTCCATCTACTCAAAGCTTCTGGCCTTAGCCATCCCAAAAAAACAGGTCAAACCTCAACAGTTTCTAAACTTTTTTTAAGGCAATAGATTTAATAGGCTATAAATAAAAAAATGTGTTAGTAGGTCTAGCAGTCTTAGTTAAAAGTAATGCAATAGGGTATATGCACAACTAGTGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20907
Status:
Available for shipment
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:
Mutation:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000088686 | Essential Splice Site | 585 | 641 | 12 | 13 |
Genomic Location (Zv9):
Chromosome 7 (position 21659587)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 20250023 |
GRCz11 | 7 | 20501991 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAAAGCGATTTTTTACAGCAGGAAGCTGAAGTCAAAAATCTCCATTGAGG[T/G]CAGAAGCTAAACCACACTGTATTTTGATCATGTTTTATCATTGGCATATA
Long Flanking Sequence:
GCTGAGATCAGGGAATGTCTGGCTATAAAACATCAACACAAAAAAATAAGTAAATTGGCAAGGTGTTATGTTTAATAATTATTAATAATAACTTATTAATTTATTAAATTTATAAGCATGCTAGATAGTTTCAAAATATGCATATTTGTAAGATTGACACACAGTGGTTGAACTTAGTATCGCACCCTAAAATCAGCAGTTTTCACCCGGCCCCTCCTCCTATGAGTTCGTGCTAACCCAGGTTGTCAGATTAATTGGGCATAAAATTGATCCTGCATTTACAATGTTGTTAGCAAATCAATTATTTTATTGCTAGTATGCAAGTTGCACTTTTTCAAATTAGATTTGTCTATATATTTCAGCTCCTGATGTATATGCAATCATTCGGTGTGAGGAAGACTCTGTTAGGACTAGAGTGTTCAAGAAAGATGAAAGCCCTGAATTCAACACTAAAGCGATTTTTTACAGCAGGAAGCTGAAGTCAAAAATCTCCATTGAGG[T/G]CAGAAGCTAAACCACACTGTATTTTGATCATGTTTTATCATTGGCATATAGTAATGTGGATGTTTTTTATGCAAAGCTGTGGAGAAGAGGATTGCTGCTGGACACATTCCTGGGAGGAGCACGTCTTCAGACGGGAGGAAGCGAACGAGGACAAAACAGAGTGATTGACTTGCAGGGTGGCCAATCACGTGGCTCTGTTTTTGTAGAGATCTCCTCCAGTCACTGCCTCACAGACCTGTGACTGACAGGTAATGACCGATGGCATCTCTTCTTCAATAGACGCAACAAGTCAAGCAACTGTGACAACAGTAATGGCTCATTGTCCTAAAGACATCATATCTACAAGACAGAAAAATGTGAAGAATGTGAATGATGTTATTAGTGATCAAGTTTTGTTCCAGTCTGGGACAAATATGAGTTTACAGACATATCCTAAAGCACAACATTATGTTATTTCTATTTTTGAATGTGGATAAAAACCATTGAAAGTAACAGTACTA
Associated Phenotype:
Not determined