ZMP
als2cr8
Ensembl ID:
ZFIN ID:
Description:
Novel protein similar to human amyotrophic lateral sclerosis 2 (Juvenile) chromosome region, candida
Human Orthologue:
ALS2CR8
Human Description:
amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 [Source:HGNC Symbol;Acc:14
Mouse Orthologue:
Carf
Mouse Description:
calcium response factor Gene [Source:MGI Symbol;Acc:MGI:2182269]
Alleles
There are 6 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa21447 | Essential Splice Site | Available for shipment | Available now |
| sa15446 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa21447
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000017932 | Essential Splice Site | 191 | 657 | 5 | 14 |
| ENSDART00000140269 | None | None | 162 | None | 4 |
| ENSDART00000141705 | Essential Splice Site | 195 | 477 | 5 | 10 |
The following transcripts of ENSDARG00000019950 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 9 (position 13510107)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 13262672 |
| GRCz11 | 9 | 13233875 |
KASP Assay ID:
554-6613.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTGCCACCAGGGTCACCAAACTGGGCTCTCAGACTGCGCGGGTGTGAGG[T/C]TTGTCCAGTGACAAGTTTATAGGATTTAAGATTTACAAAATTAAGTTTAT
Long Flanking Sequence:
AGGGAATGGACAAATATTTGGCGTCCCGTCTGTGCCTTTAAGTGGCGCTCAGATGTTACTACCTCATGGTCAACTTTTGAATGTAGCAAAGTCATCAGGTTATTAATTGTATCATATTTGAATTTAATTGATTATTTCTCTTCTAAAATAATACAAAAATGGTTGATTTACAGTTCTGCCATTTGTTCTGTTCTGTTAAACAGGCGTCTTTGTGGAAAAAAGACAGCAGCCTGTCATCACAACCATAAAAGAGAATGACGGTGCTCATAGTTTACCTGCAACAACGGCTCAGAATATCACTGCTATTAAAATTCAGAAGAAAAGGTCAGTGACACAATTTTATACTGTCCGATTTTAATCGTTGGTTCAGAGTGTGCCTTATTTGTTGAATAAAAAATGTTTTCTTGTCTCTTTCAGTTTTCCTGATGTATTTGAGCCCCCGGTAAAGCCACTGCCACCAGGGTCACCAAACTGGGCTCTCAGACTGCGCGGGTGTGAGG[T/C]TTGTCCAGTGACAAGTTTATAGGATTTAAGATTTACAAAATTAAGTTTATGTTTAATATTTAATAAATTTAATCAAATTTAATTTAATATTATATTATATATGCAAAAATTAAGTGTACATGTAGGACCATTACGGTTGTTTTGTTTTCCTGCATTGATTTAATTTTATGTTAGTTGACCATATATTGTCCACGAGTAATCATTTTAATTTTTAAGATATTCTTTTAATATTCTCATGTTTTAACTGATGATTCTTGATACTGTATTACAGCTTTTCTTGCACTATTTATGTGTTATTTTCTTTTTACTCTTTTTAAAATTGTTTAATACATTTGAATCAGTTGTTAATCATTTTAATTTTGTTTTTATTTCTTATTACTTATTTTGTAATGCTTTTTAATCCTCATTTTGTGTAAAGCACTTTGAACTACCAGTTATGAAATGTGCTATACAAATAAACTTGTCTTATGTTACAGTGGAATATAATTACACATAAATTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15446
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 |
|---|---|---|---|---|---|
| ENSDART00000017932 | Nonsense | 633 | 657 | 13 | 14 |
| ENSDART00000140269 | Nonsense | 138 | 162 | 3 | 4 |
| ENSDART00000141705 | None | None | 477 | None | 10 |
The following transcripts of ENSDARG00000019950 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 9 (position 13522719)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 13275284 |
| GRCz11 | 9 | 13246487 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTAATKCTGGAGCTAATGGAGGAATCACACAGATCCTGCTGGAGGATGGA[C/T]AGGCTATYCCAGTCCAGATTGTGGAGCCGGCAAACATAGGTGAKTATATC
Long Flanking Sequence:
AAAACACAAAACGGCAATCTATTTTATAGAGATTATCTCTGCAGACCTTCGTGATTGTACTGCATGTCAGCGTCAACAGGTTTTTCCTAAACATTTGCCACTTCTGACTTTTTTAAATGCTAAAACTGGGCAAGACCAGCTCAGGTCATCAGTTGGCATGTAATTTGGTGGCCTTGAATCAGATTTATAGATGTTGTTTATGTTACCATTAGGAGCGCTTTTCTCTCATCTGATAGACCATTCAGCTCCAGCCGCCCTTGTGTCCAGTGGAAGACCCTGCTCAACCTTTAACAGCAGCACCAGAAGCCCAAGAGCTGTCCAGCCCTGCAGCCTCACAGCCTGCACTCCTGAGTCCATCCCAATTTCTCCAGTCTAGTCCCAGTGCTGGCGAAGGCAGGTCTGTGTGTGAGACCCCGACCCTGCTTGGCATGAACCAGCTAGTGAGTGTCTCTAATGCTGGAGCTAATGGAGGAATCACACAGATCCTGCTGGAGGATGGA[C/T]AGGCTATTCCAGTCCAGATTGTGGAGCCGGCAAACATAGGTGATTATATCAGAGGCTTTCACAACACTGGAATGTTCTCATAGTTCCTATGCAGGGTTTATAAGATCATGGAAAAGTCATGGAATTTTGACATGGCATTTTCCAGGCCTGGAAAAGTTTTGAAAAAACAGAAAAAGCCACAAGGGTTTGGAAAAATTCATGGAGATTACATTTAGTCATTTAGCAGACATTTTTATCCAAAGCGACTTGTCCAAAGCTGCGGTCAAACTAAAGCAGGGGTCAGGAACTTTTTTTCAGCAAAGAGCCATTTCTGATTTACTATATATATATATATATATATATATATATATATATATATATATATATATATGTAGTTGGATTGTTAGCATAATCTGATGGGTAGGATAAAATGTTAGGACACCCGAAACATGATATTACTCAGCGGTTATACCGAAAAAAGCATGAAACATCACTATTCAATTTACTACTACGTTCAGTTC
Associated Phenotype:
Not determined