ZMP
B8JIF7_DANRE
Ensembl ID:
Description:
Novel protein [Source:UniProtKB/TrEMBL;Acc:B8JIF7]
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 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa32638 | Essential Splice Site | Available for shipment | Available now |
| sa13689 | Nonsense | Available for shipment | Available now |
| sa39582 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa32638
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000131559 | Essential Splice Site | 50 | 152 | 1 | 3 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 16404855)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 16970023 |
| GRCz11 | 1 | 17662960 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAGGATGAAGGCAGAGTTTGATAAACTGGATCCTGAAAGCACCGGAAAG[G/A]TAGCAAACAGTGTCACACCTCTCAAACAAACAGGTAGAAAAATGGTAATC
Long Flanking Sequence:
TGATCATCATTTGCTCACACTTAAGTGGCTCTAAACTTTTATCAGTTCCTCTCTTCTGTGGACCACAAACAGATGTGCTGATGAATTTTTGGGGGCAATTAGGGGGTTGGAGGGGAGTTAGGTAAGTCAATGTTTTTCCAACATTCTTTATTATATTTTCTTTTGCATTCAAAAGAAGAAACTCAAACATGCTCAAAACAAGTAAAGGTTGAAAAAATAACTTTCCCCCTTTAAATCTCCTAAAATAATAACTCTTTGCTTGGTATAATTGGAACCTATAACCAAAGATTAAATGAGACCTGTCTGTAGAGACTTTGCATGATCATTGAATACATTCTTACTTGTCTTTTCCAGCAGCTCCTGGAAGGACACTGCCTAAAGCAGAAGAGGAGCGTCACACATCCATCGCCATTGAAACATGGCTGAAGGACAGATTTAGGGATGGAGCTCAAAGGATGAAGGCAGAGTTTGATAAACTGGATCCTGAAAGCACCGGAAAG[G/A]TAGCAAACAGTGTCACACCTCTCAAACAAACAGGTAGAAAAATGGTAATCATATTGAAGTGTTAGGTCAACCAAAAATGAAAACTCTGTTATTATATACTCACCTTAATGTTGTTTCAATCCTTGAGACTTTTGCTTATTTTTGCAACACAAATTGACCTTTTTGGCAGTTTGATAGACAGGCGATCCAGCTAGTCGTAATGCTGATATTCTGTGCCCCAATCACTTTCTGCTATTTTGTCTGACAGGCATCATAATAGAACAAAACTGGTGATTGACATGGCGGTGTGCTTGTATGGAACTTGCAATGCCGGTTCAGGAAGGCTGGGCAGTTTACAATTCCATCCTTTCCCAAAACTTAGAGAACTGTGTGGATATGTTTGTGTGCCAATCAATAGTGCTGTCTCTCATTACTGCTGGACGAATTACTTAAAAAGCAAAGATTTACAACTTGTAAACTAATCTTTTCTGTTATTGTACTGGGACAGCCAGCATAACTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13689
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000131559 | Nonsense | 65 | 152 | 2 | 3 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 16401389)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 16966557 |
| GRCz11 | 1 | 17659494 |
KASP Assay ID:
2259-0387.1 (used for ordering genotyping assays)
KASP Sequence:
TTTGCAGGTGAGAGGTGCGGACTTTCTGCAGGTGTTGGGAAAGTTTGAWT[T/A]GCAWCTGAAAAGAGAGCAGCTGGGTCTGTTTCTGTCTCGCTGTGGTCTGA
Long Flanking Sequence:
TACAAAACTCCATGAACTCTTTTGTGTTCCAAACAAGAACTGTATATATGACAATGTGCACCCTATGTCTTCTCTCCTCAGGGTATGCATTTACTATGGGGAGGGTGGCATATTGCCATTACAGTCAGCATCACAACACACAAGCCCCATACTGTTTGTAGAAAATATGCACCTTAATACGATATAGGCAAACAAAGTTTGAAATTTTTGAAATTTTTCAGTTGTTGGCTTTACTTGGAGCTTAATATGAGTATGTTTTACTACTGATGTCACATTGATGTTTTCACAGAGTTTTTGGAGCTAAGGCCAATTCTGTCTGGATGAGAGAACACTCAGATTTCATCTAAATATCTTAATGTGTATTCTGAAGATGAACAAAAGTCTCAGGGGATTGGAATAACCATTTTCATTTTTAAGCTAACCAACCCTTTAATGTATGAAAATGGCATGTTTGCAGGTGAGAGGTGCGGACTTTCTGCAGGTGTTGGGAAAGTTTGATT[T/A]GCATCTGAAAAGAGAGCAGCTGGGTCTGTTTCTGTCTCGCTGTGGTCTGAAGATTAAAAAGGGTTGCGTGCAGTATTTGAACTTCCTGCGGACCTTCCAGGACAGAAGCTCAGATGGCATTACTCACAAGATCATCTACAACCCAAAACACCGGTCAGATTTACAACATAGCAATGTCCTAATTTTATTTATTCATATGGACTATTGATCCCTCCAGTTTTTATTAAATCACCTGCAGTTCAGAAAAGTAGAATTCATTTTGCACACATCAGAAGCAATCACGCACATTTCTGAGTTGTTTATGAATGTAGTGACCAATCAAAGGCATTAGTCACAGTTGCCTGTTTACACTTGCAGTATGTCATCATAAACAGCATAGTCAGATTATGACATGGTTTCACCAAGCACAAAAATTGTTGTGTGTGTGTTCTATTTATTGTTATTAATAGTCATTATTGCAAAATCTGGAGCTGTAAAAGACAGCAAGGATTTTTTTTGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39582
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000131559 | Nonsense | 70 | 152 | 2 | 3 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 16401375)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 16966543 |
| GRCz11 | 1 | 17659480 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGCGGACTTTCTGCAGGTGTTGGGAAAGTTTGATTTGCATCTGAAAAGA[G/T]AGCAGCTGGGTCTGTTTCTGTCTCGCTGTGGTCTGAAGATTAAAAAGGGT
Long Flanking Sequence:
AACTCTTTTGTGTTCCAAACAAGAACTGTATATATGACAATGTGCACCCTATGTCTTCTCTCCTCAGGGTATGCATTTACTATGGGGAGGGTGGCATATTGCCATTACAGTCAGCATCACAACACACAAGCCCCATACTGTTTGTAGAAAATATGCACCTTAATACGATATAGGCAAACAAAGTTTGAAATTTTTGAAATTTTTCAGTTGTTGGCTTTACTTGGAGCTTAATATGAGTATGTTTTACTACTGATGTCACATTGATGTTTTCACAGAGTTTTTGGAGCTAAGGCCAATTCTGTCTGGATGAGAGAACACTCAGATTTCATCTAAATATCTTAATGTGTATTCTGAAGATGAACAAAAGTCTCAGGGGATTGGAATAACCATTTTCATTTTTAAGCTAACCAACCCTTTAATGTATGAAAATGGCATGTTTGCAGGTGAGAGGTGCGGACTTTCTGCAGGTGTTGGGAAAGTTTGATTTGCATCTGAAAAGA[G/T]AGCAGCTGGGTCTGTTTCTGTCTCGCTGTGGTCTGAAGATTAAAAAGGGTTGCGTGCAGTATTTGAACTTCCTGCGGACCTTCCAGGACAGAAGCTCAGATGGCATTACTCACAAGATCATCTACAACCCAAAACACCGGTCAGATTTACAACATAGCAATGTCCTAATTTTATTTATTCATATGGACTATTGATCCCTCCAGTTTTTATTAAATCACCTGCAGTTCAGAAAAGTAGAATTCATTTTGCACACATCAGAAGCAATCACGCACATTTCTGAGTTGTTTATGAATGTAGTGACCAATCAAAGGCATTAGTCACAGTTGCCTGTTTACACTTGCAGTATGTCATCATAAACAGCATAGTCAGATTATGACATGGTTTCACCAAGCACAAAAATTGTTGTGTGTGTGTTCTATTTATTGTTATTAATAGTCATTATTGCAAAATCTGGAGCTGTAAAAGACAGCAAGGATTTTTTTTGTTTTAATATTGCAGTC
Associated Phenotype:
Not determined