ZMP
si:dkey-253d23.10
Ensembl ID:
ZFIN ID:
Description:
Novel protein [Source:UniProtKB/TrEMBL;Acc:Q1LWP6]
Human Orthologues:
NLRP12, RNH1
Human Descriptions:
NLR family, pyrin domain containing 12 [Source:HGNC Symbol;Acc:22938]
ribonuclease/angiogenin inhibitor 1 [Source:HGNC Symbol;Acc:10074]
ribonuclease/angiogenin inhibitor 1 [Source:HGNC Symbol;Acc:10074]
Mouse Orthologue:
Rnh1
Mouse Description:
ribonuclease/angiogenin inhibitor 1 Gene [Source:MGI Symbol;Acc:MGI:1195456]
Alleles
There are 2 alleles 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 |
|---|---|---|---|---|---|
| ENSDART00000135657 | Essential Splice Site | 58 | 115 | 2 | 3 |
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