ZMP
erc1a
Ensembl ID:
ZFIN IDs:
Description:
ELKS [Source:RefSeq peptide;Acc:NP_001015065]
Human Orthologue:
ERC1
Human Description:
ELKS/RAB6-interacting/CAST family member 1 [Source:HGNC Symbol;Acc:17072]
Mouse Orthologue:
Erc1
Mouse Description:
ELKS/RAB6-interacting/CAST family member 1 Gene [Source:MGI Symbol;Acc:MGI:2151013]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa44299 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa24672 | Essential Splice Site | Available for shipment | Available now |
| sa24673 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa44299
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 |
|---|---|---|---|---|---|
| ENSDART00000012923 | Essential Splice Site | 229 | 970 | 1 | 17 |
| ENSDART00000041169 | Essential Splice Site | 229 | 966 | 1 | 16 |
Genomic Location (Zv9):
Chromosome 25 (position 21851934)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 21083810 |
| GRCz11 | 25 | 21181464 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATATCAGTGTGGAAGGAGCAGTACCGCGCTGTGCAAGATGAGACACAGG[T/C]GGGTACATCTGGCAGGGTATGCTTGTTTTTTAAGCATAAGTGGACGTTTA
Long Flanking Sequence:
GAACATTCAATCTCTTAATGCTGCCTACGCCACGTCAGGTCCCATGTACATGAGTGACAACGAGGTCGCAATTGGGACTTCATCTGACCACCCTAAGACTGCCGTAGCGACGGGTCGCTTTGGAGGTAGCATACCCTATGGAGTCCGAGGAACGGTTACCGGCAGTACACCTGACATGGCAATGGTGCCGGCAGTATCGACTGACTCTATGGGCTTTGGAGGCGAGATCCATGCAGCTTCAACTGTTCCTCACTCCCTACGCCAGGCGAGAGACAACACCATCATGGAGCTCCAAGCCCAGCTCAAGGAAGTGCTAAGGGAAAACGAGCTCCTTCGGAAGGAGATTGAGGTTAAGGAAAGCAAGCTGAGCTCCTCCATGAGCTCCATCAAAAGCTTCTGGAGCCCGGAGCTGAAGAAGGAACGTGCCCTGCGAAAGGACGAGGCGTCTAAAATATCAGTGTGGAAGGAGCAGTACCGCGCTGTGCAAGATGAGACACAGG[T/C]GGGTACATCTGGCAGGGTATGCTTGTTTTTTAAGCATAAGTGGACGTTTATTGCTGATCGGAGAGCTGTTTTGGGGTTTCAGTGGGATTTAGGATTAAAGCGTGTGCTTAAAGGAATGTAGTTTTAAATCAGGATCTTGATCAGTACTAAATGGTACTGCGTATCTAAAGTGTACTTATGTTTGGAAATAGATTTTCAGTGATACATTTTGTTTTCCAGCACAGTGCTAGGTTGTGCTAGGCATGTGCTGTATAATACATATGAACATGTATTATACGTGTATAGTTGGCGGTTCATTCCGCTCTGGCAACCCCTAATAAATCAGGGACTAAGCTGAAGGAAAATTATTAAATGATACATTTTAAATATCACATACTATTTATTGACATATCCCTGTCATATGAACAGCAGAAATGGTGGCAGTAAAATGGCAACTTGTTATTCTGAGTTTACACGAAAAGGATTTTAACTTTAAAGTGCAATAGGTGATTGTCTTAATG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24672
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 |
|---|---|---|---|---|---|
| ENSDART00000012923 | Essential Splice Site | 355 | 970 | 2 | 17 |
| ENSDART00000041169 | Essential Splice Site | 355 | 966 | 2 | 16 |
Genomic Location (Zv9):
Chromosome 25 (position 21865203)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 21097079 |
| GRCz11 | 25 | 21194733 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGAGAACCTGCTAGAACAGCGGGATAAAGAGCTGGTGGCTCTCAGAGAG[G/A]TGTGTGACAACTGGAGATGAAACATACATTACAAAATATTACATTTATAT
Long Flanking Sequence:
ATATAGCGCCTTCTAGTGGATTTGTCATCTGAAATGTGCATTGAAACATATTTCTAATAAGCCTGGGCTGGAACTATGCTGTTAAATCTTAATAATTTGCATATCTTTCATACCTCTTACAGCATCTGCAGACAACAGTGCAGGCGCTGCAGGCCGAGCTGCGTATCCAGCGTGACTTGAACCAGCTTCTCCAGCCGCCCGGGGAGCCTCTGGCCTGCGAACCCAGTGAGGAGCAGGAACGTCAGGCTCGAGAGCTCTTCTTGCTCCGCCGTACGCTGGAGGAGATGGAGCTGCGCATGGAGGCCCAGCGGCAGACGCTCGTTGCTCGCGATGACTCTGTCAAAAAGCTCCTGGAGATGTTGCACAGCAAGGGCCCGTCAGCTAAAGCCAGTGAAGAAGATCATGAGCGAACACGACGCCTGGCAGATGCAGAGATGCATGCGCACCACCTGGAGAACCTGCTAGAACAGCGGGATAAAGAGCTGGTGGCTCTCAGAGAG[G/A]TGTGTGACAACTGGAGATGAAACATACATTACAAAATATTACATTTATATCATATACAAGTAACAGTGTTTATTTGGTCTAAATTTAGCTTTGAAAAATATTGAACTCTTTAGCTTGAAATCCAAAATCCCTCTGTTATTTTTATATTTTTAGATGTTTTTCTTAGACTGTTCCTTAATTTTTGATATACATGTCAAAACAGAATATTAAAAGTCTGATTTATTTTGAGTTTTAGAAATCAACTATTTGACATACTTTTTGACAAAGTGAAGTTTATTCATAAACTAATTTCGAGAGGATCACGTGCTTATGATTGACACGGCTGGCCCAGAGTCAAGCTAATGTACGAACCACCAATCAGACTATTCCTAACCCAGTATAAATAACCAAATATCTTACCTTTAGTCATCTTTGTCTTGAAGAATCCCCCCTTCCACCCCTTCTCCTCCTCTTTTCAACAGGGCAGCACGACGGCCCAGTGGCTAGCACTGCGGCCTCAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24673
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000012923 | Nonsense | 780 | 970 | 12 | 17 |
| ENSDART00000041169 | Nonsense | 776 | 966 | 11 | 16 |
Genomic Location (Zv9):
Chromosome 25 (position 21892356)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 21124232 |
| GRCz11 | 25 | 21221886 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAAACACAAGGAGCCGCCGGGAAAGGGCAGAAATGTCAACGATGGCCCA[C/T]AGCAGGTGAGGTGAACAGAGAGATGGTTATGACAGTTCTGTCTCTTTTGA
Long Flanking Sequence:
AGATTTACCTGACATGTTCTCGGTTGTCTGTTTTCCATATCAAACTTGCAAAGTCTGAACTTACAAGGAGAGGATGCAGGACTGAACTGTTTGTAGGCTTCTTAATATTAAAGGAAAACCTCAATCAGAGAGGCGAATGTCGGCAGCCCCGCCCTTGTTTTCAGATGTCTCCGTTTTCCCTCATCCACACTGAGAAGGATCAGCAACATTTTAGAATGGAAACGGCCTCTTCAGAGTTTCCAAAATGCTCCGTTTTCGGCGCTCGAAAACTCCGGCGTAGTGTGGACGATTGGCGTAACCGTAGCAAAACTTATGTGTTTTAAAACAAAAATGCATTAGTGTAAATGGGGCCTAAAACTCTTTAGTTCACCATTAAAATGCAGAGCGTTCTTCTCACAAAAGCATCATGTTTATGTTTCAGGCAAATGAAAGAGCAGAGTAAGAAGTCTGGCAAACACAAGGAGCCGCCGGGAAAGGGCAGAAATGTCAACGATGGCCCA[C/T]AGCAGGTGAGGTGAACAGAGAGATGGTTATGACAGTTCTGTCTCTTTTGACGGCTCTCTGTATTTTTCCTAACACTGTCAAACTGTACTGTGTGCTGATGATGAGCTTGTCTATCCCAGGAGTCTCTGCGGCAGAAGGCAGAGCGTATCGAGGAGCTGGAAGAGGCTCTCAGAGAAAGTGTTCAGATCACTGCCGAAAGAGAGATGGTACTGGCACAGGAGGAGGCCGCTCGCAACCACCAGGAGAAACAGGTAAATATTAAAACGGTTGATATAATATTAATATAGTCAAAAGTACCAACTTGGATGTTGATACTTTGCAAGTGTGATGATACAAGCGTTTTCTGAATGCTTTTTAGGTATTTCTATAGGTTTTTTCACACCTAAAGATCGATTGTTTTGTTCTGAAACAGGAATTAAAATTGAAACAATGTTGTTTTTTGTCCTTTTTGTGGTTCGTTTTCACATGGCAACGTTTCTAAATGGTCCAAAGTGATTAAA
Associated Phenotype:
Not determined