ZMP
si:dkey-256e7.5
Ensembl ID:
ZFIN ID:
Description:
Novel protein [Source:UniProtKB/TrEMBL;Acc:B8JIF8]
Human Orthologue:
EFCAB6
Human Description:
EF-hand calcium binding domain 6 [Source:HGNC Symbol;Acc:24204]
Mouse Orthologue:
Efcab6
Mouse Description:
EF-hand calcium binding domain 6 Gene [Source:MGI Symbol;Acc:MGI:1924877]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa31200 | Nonsense | Available for shipment | Available now |
| sa32639 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa31200
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:
C > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000142689 | Nonsense | 121 | 234 | 2 | 5 |
The following transcripts of ENSDARG00000092600 do not overlap with this mutation:
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 16415028)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 16980196 |
| GRCz11 | 1 | 17673133 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGGCAGCTTCAGAGAATCGCTCTATAAGCAGAGCTTCCCTTTCAACATA[C/A]TCCAGCATTGGGCCATGGAAGACAGATCAGACTGATCAGGTAGTGCACAC
Long Flanking Sequence:
TCTATAAATACTACATTAATAAAAGCAGTATCTGAAACGTGTACGGGTATTTATATTATATTTGCATTGTAATGATTTCATGAAAACTATCAAGTCTTAAAAATATGTGATCGTCCACCCAAATATGAAAATGAAGTAATTGTCTACTCATCCTCCACTTCCAAACCTGTTTGGGTTTCTTTCTTCTGTTAAACACAAAGGCTTAAACACAAAAATAATTAATAAAAAAGAATATTGAATAATATAAATATTTGCATGCCAGCTTTCACCCCAATTTTAAAACCACTTGATTGTGAATAATTCAATTCAATTCATCTTTATTTATATAGTGCTACAATGTAGATTGTGCCAAAGCAGCTTGTAATGGTGAGGATGTTTTTATTTTTGGGGTAATCTATACCTTTAAATGCAGTATTTAATGGTAAACTAAATTTGTTTGATACAGGTCACAGGGCAGCTTCAGAGAATCGCTCTATAAGCAGAGCTTCCCTTTCAACATA[C/A]TCCAGCATTGGGCCATGGAAGACAGATCAGACTGATCAGGTAGTGCACACATTTAACTCATGATATCTTGATAACTATATTTTAAAAGTGTTATGGATTTAAAATTAAACATTTATTTAAAATGGATTTAAATACTCCAATAATAACTGAGCACTAAATCAGATTACTAAAGCATTATGTGACATTGACAACTGATGTAATGCCTGACATTTGCAAATGATATTTGTCATTTTAAATTATAATAATACGCTGAAAACAAATCTGTATTATAACAAATAATTAGTTTTTTTTTTTGTTTGTGATTTAAGCCCAATATTTAATTTATTTCCAAAATATTGGCCATCACCATCAACAAGGGTAGTGTGTAAAGGAAGCACCTCGGTGGTATGGTCCTGTTAAGGGTTGTTCATGTTCTGAGCTCAAAATAAAAAGGTTAACAGATAGTGCTGTCTCCTACCTGCTTATTCTGCTAGATTGCTGACAACAGAGACACTCAGGGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32639
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000142689 | Essential Splice Site | 134 | 234 | None | 5 |
The following transcripts of ENSDARG00000092600 do not overlap with this mutation:
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 16414987)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 16980155 |
| GRCz11 | 1 | 17673092 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCAACATACTCCAGCATTGGGCCATGGAAGACAGATCAGACTGATCAGG[T/C]AGTGCACACATTTAACTCATGATATCTTGATAACTATATTTTAAAAGTGT
Long Flanking Sequence:
TACGGGTATTTATATTATATTTGCATTGTAATGATTTCATGAAAACTATCAAGTCTTAAAAATATGTGATCGTCCACCCAAATATGAAAATGAAGTAATTGTCTACTCATCCTCCACTTCCAAACCTGTTTGGGTTTCTTTCTTCTGTTAAACACAAAGGCTTAAACACAAAAATAATTAATAAAAAAGAATATTGAATAATATAAATATTTGCATGCCAGCTTTCACCCCAATTTTAAAACCACTTGATTGTGAATAATTCAATTCAATTCATCTTTATTTATATAGTGCTACAATGTAGATTGTGCCAAAGCAGCTTGTAATGGTGAGGATGTTTTTATTTTTGGGGTAATCTATACCTTTAAATGCAGTATTTAATGGTAAACTAAATTTGTTTGATACAGGTCACAGGGCAGCTTCAGAGAATCGCTCTATAAGCAGAGCTTCCCTTTCAACATACTCCAGCATTGGGCCATGGAAGACAGATCAGACTGATCAGG[T/C]AGTGCACACATTTAACTCATGATATCTTGATAACTATATTTTAAAAGTGTTATGGATTTAAAATTAAACATTTATTTAAAATGGATTTAAATACTCCAATAATAACTGAGCACTAAATCAGATTACTAAAGCATTATGTGACATTGACAACTGATGTAATGCCTGACATTTGCAAATGATATTTGTCATTTTAAATTATAATAATACGCTGAAAACAAATCTGTATTATAACAAATAATTAGTTTTTTTTTTTGTTTGTGATTTAAGCCCAATATTTAATTTATTTCCAAAATATTGGCCATCACCATCAACAAGGGTAGTGTGTAAAGGAAGCACCTCGGTGGTATGGTCCTGTTAAGGGTTGTTCATGTTCTGAGCTCAAAATAAAAAGGTTAACAGATAGTGCTGTCTCCTACCTGCTTATTCTGCTAGATTGCTGACAACAGAGACACTCAGGGTTGTGCGGTGTAGGACACAAGTGTTCTCCTAGCTTCAGTTGC
Associated Phenotype:
Not determined