ZMP
si:dkey-253d23.12
Ensembl ID:
ZFIN ID:
Description:
Novel NACHT domain containing protein [Source:UniProtKB/TrEMBL;Acc:B0S6L3]
Human Orthologue:
NLRP6
Human Description:
NLR family, pyrin domain containing 6 [Source:HGNC Symbol;Acc:22944]
Mouse Orthologue:
Nlrp6
Mouse Description:
NLR family, pyrin domain containing 6 Gene [Source:MGI Symbol;Acc:MGI:2141990]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa3172 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa3172
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000106026 | Essential Splice Site | 714 | 887 | 9 | 11 |
| ENSDART00000146598 | None | None | 790 | None | 7 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 22 (position 10064900)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 9925068 |
| GRCz11 | 22 | 9954750 |
KASP Assay ID:
554-2870.1 (used for ordering genotyping assays)
KASP Sequence:
CTGACATATCAACATGTATCTCAGTCATTGTCTTTTCGCTTTCTATCTTC[A/T]GACTTTGTAAATGCAGTATTACAGAGGAACAGTGTGTGATCCTGACTTCA
Long Flanking Sequence:
AGCTCTGAAATCAAACCCATCACACCTGAGAGAACTGAACCTCAGTCAGAATATACCTGGCGACTCTGGAATGAAAAACCTCAGTGATTTACTGATGAATCCACAATCCAAGCTGGAGAAACTACAGTTAGTATCATCCCTACAGTATCATAAATATCATAATGTACAGCAGATACTGTTAGAATTAAGATTATATTCAGACAACAGGAATCAAGCCACAGCATTAATAAAATTTCTTACTATAAAATTTTTCAAATGCTGAAATCTGACCAAACCATTCACTGCTAAATAGGATTTGTGAGAACATACTAGAAAACTGAGCTGTAAAGATTATTTTGACAGTGTTTCATTCATACTGAACAAATGGTGAATTTTCATTAACTTTTTCAGTACCTACTTTAGTTTAAAATGAAATAAATCCATAAGTACTCAGTGATCAAATTGTTTTAACTGACATATCAACATGTATCTCAGTCATTGTCTTTTCGCTTTCTATCTTC[A/T]GACTTTGTAAATGCAGTATTACAGAGGAACAGTGTGTGATCCTGACTTCAGCTCTGAAATCAAACCCATCACACCTGAGAGATCTGAACCTCAGTCTGAATAATCTAGGAGACTCTGGAGTGAAAACTCTAAGTGATTTACTGATGAAGCCACACTTAAAGATGGAAAAACTATGGTTAGCATCATTATTCTGTACAGCAGATACTTTGAGATTATTGATGTTTATTTATTCTCAGACAACAGGAATCAAGTGAAAGCATTAATAAACTTTCTTAAAATTATTCAAATGCTGAAATCTGACAACTATTCAATGGCTAATCAAGAGCAAACATGAGAACAGGCTTGAAAATTAGCAAACAGGATTATTCTGACAGTGGTTTGTCTCCAGTGCATCCGGAAAGTATTCAAACCACTTCACTTTATTCACTTTTTTATGTTACAGCCTTTTTCCAAAATGGATTAAGTTTATTTATTTCCTCAAGATTCTACACACAATACCA
Associated Phenotype:
Not determined