ZMP
pitrm1
Ensembl ID:
ZFIN ID:
Description:
Presequence protease, mitochondrial [Source:UniProtKB/Swiss-Prot;Acc:Q7ZVZ6]
Human Orthologue:
PITRM1
Human Description:
pitrilysin metallopeptidase 1 [Source:HGNC Symbol;Acc:17663]
Mouse Orthologue:
Pitrm1
Mouse Description:
pitrilysin metallepetidase 1 Gene [Source:MGI Symbol;Acc:MGI:1916867]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa31298 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa31298
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000056294 | Nonsense | 138 | 1023 | 5 | 27 |
The following transcripts of ENSDARG00000038563 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 2 (position 48209464)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 2 | 48241128 |
| GRCz11 | 2 | 48095292 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGTGGTTTATCTTTCTCATGATTTTAATCTCTCCTTCAGCCAGCGATTA[C/A]ACCATGTACCCGTTCTCCACCCAGAATGCCAAAGACTTCAAGAACCTCCT
Long Flanking Sequence:
TAATAACTTATTTAAATGAAATAAAATAGTCTTCTCAATATTTTTTGTGCTTTTGCATAAAATGAAAGCGTTGGAGCATGTGCTTATAGCGTGATGTGGCTGTTTTCTTATTTTGTTGTTGTTTATGTGCACCCTTTCATTAAGTTGTGGGAGACTTCATGAATGAACAATGCATAAAACTAAAATAAATATGCATTTATGATTTAAATACTATACTATAACAAATAGCATCTGATTAAATGTAAAGTATGTATATTTGTGTAATTATAAAATAATTTCCACACTTCTAAATTTCAAAAATGTACCTGGAAAGTGCTTGAAAAGTTCTTGAATTTGACTTTGGAAAGGTCAGAATCCTGTGTAAGAAATGGTTTTTGAATAAGCGAAGGAGTAAAGGATGGCACAATTGTAATTTCTGGATGAACCATCCCTTTAAGTGAACATATGCATGTGTGGTTTATCTTTCTCATGATTTTAATCTCTCCTTCAGCCAGCGATTA[C/A]ACCATGTACCCGTTCTCCACCCAGAATGCCAAAGACTTCAAGAACCTCCTGTCAGTCTATCTGGACGCTGTCTTCTTCCCTTGTCTCAGAGAGCTGGACTTCTGGTAAACGCTCTGAAACATACTCAGCTTTTCCACGATTAATTCTGCATGAATTTGCGAAGATGTTTGTGTTTTTCAGGCAGGAGGGCTGGAGGCTGGAGCATGAGAACCCCACTGACCCCTCAAGTCCTCTGGTGTTCAAGGGTGTGGTGTTCAATGAGATGAAGGGAGTGTTTGTAAGAAAACTTCCATGTCCTGTTCAGATTTCAAGAATATATCAGTAATATATGCAGAGCTTTTTAAAATTTTTAGATGATCTTTTATTCTACAAAGATGCATTACGTAAAACAAGTGACAATGAAGACATTCTTTCTTATGTTGTACTGATATAATTTTGGCAATAGCCAAAAAATACATTGTATGAATCAAAATGATAGATTTTTCTTTTATGCCAAGAAT
Associated Phenotype:
Not determined