Busch Lab

ZMP

pitrm1

Ensembl ID:
ENSDARG00000038563
ZFIN ID:
ZDB-GENE-040426-2876
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 are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa25120 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa31298 Nonsense Available for shipment Available now
sa25121 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa33024 Splice Site, Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa25120
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056294 Essential Splice Site 84 1023 None 27

The following transcripts of ENSDARG00000038563 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 48208166)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 48239830
GRCz11 2 48093994
KASP Assay ID:
554-7294.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTGTTTATGCCCCATTGATGTCCACATTCCTTTGCCTGTGTGTTTTTAT[A/T]GCGTGCTGTTTCGTACCACCCCAATGGACAGCACTGGTGTTCCTCACATC
Long Flanking Sequence:
TTGTTAGTATTGTGTAATATGTTTTATCTATGTTTATCTTGCCATGAAATAGTTGCTTTTGTGGAAATAAAAAAAATAAAAAATCAAACAAATCTGATGTTCAGGTTAAACTTTAGCCGATAATCTTGATCACATCTACATTCCTAAATGGATTTAGTTCATATCATGTAATTGATAGATTTAATTTTTGCATAAATATGCAGTTAAAGTGATCAAAGTGTCAAAGTCAGCCTTATTTTCAATTCTGCCACATGTACAGACATACAGAGAATTGAAATTACATTACTCTCAGACCTTGAGTCAATGCAAATAACAAAAACTCTACAAGAGGAATGTAAATATACAGTAAATACAAGTCATTTCAGTAAAATTAAATCTACTCAATTTACCTAATAAAGTGTCCAGTCTGTTTATACCTGATTGATGTGCACATTTATATGTGTGCCTGTCTGTGTTTATGCCCCATTGATGTCCACATTCCTTTGCCTGTGTGTTTTTAT[A/T]GCGTGCTGTTTCGTACCACCCCAATGGACAGCACTGGTGTTCCTCACATCCTGGAGCACACCGTTCTGTGTGGCTCTCAGCGTTTCCCCTGCAGAGACCCCTTTTTTAAGATGCTCAACCGCTCGCTCTCCACCTTCATGAATGCATTCACAGGTACTTCCCCAAAGTCAATTTTTAAAGGGATAGTTCACCCAAAAATGAAAATGACCTCTTTCCATTCTTCCTCCTGTGGCTTCAAACCTTTGTGAGTTTCTTTCCTCTGTTTAAAGGTATAGCTGACCCAAAACTGATAATTCTATCATCATTTACTCAACTTTCACTTGCCAAAAATGATTGCAGTTTCCTTTTTAGTTGATCACAAAAGCAGTTACTTTTAAAACCATTGTAAATGGTTACAGGTTTCTGACATTTTTCAAAATGTTTACTTTTGTGTTTGTGTTTAACTCTTTAAAGTAAAGAACCACTTGAGGGAGCAAATGAGCACATTTTCAGGTTTTGGT
Associated Phenotype:
Not determined

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.
Availability:
Order Allele From ZIRC
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

Mutation Details

Allele Name:
sa25121
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056294 Essential Splice Site 575 1023 16 27

The following transcripts of ENSDARG00000038563 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 48221468)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 48253132
GRCz11 2 48107296
KASP Assay ID:
554-7538.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTGTGACACGACTACTTTGAAAATCCTGCAGTCTTTTTGTGTGTGTGTA[G/A]GTGGTGTACCTGTACAGTACTGTGAGCAGCCCACCAACGGCATGGTGTAT
Long Flanking Sequence:
ATGCCGTGTGAAACGTGTCACCTACACCTACAGCCAATGAGAGAGCAGCATCCACTAGCGTGGGTACCTGCAGGCCAGGGGGAGCTTGGGGGAGAAGTTAAAGCGCTCATTTTCAGTTTATTTGGACCCAAGAAATGGAAGAAAAACTAGCAGAAATTTGACTGGAGCACCATGTCTTTTTGATGCGTCATGTGAGCAATATCACAACCAGGTCAAAAAAAAGACAGTTGAGGAGAAATTGCTAATTCCCTTTAAACCCAAGTGAGCAAACATGTACATTTTCTGGCCCACCAAAGGCTTCTTTCTCATTATATAGTTAATAACAAAAGTATGGATGAAGTTGTTGGCGATTCTTCCTATTGTAAAGTCATGCAGTGTGAAATTTCCAGTCCCAGTGTAAACAAAGCAGCGACAAAACGCTAGCCCAGATAGTCATGCAGTGTAAAAACATCTGTGACACGACTACTTTGAAAATCCTGCAGTCTTTTTGTGTGTGTGTA[G/A]GTGGTGTACCTGTACAGTACTGTGAGCAGCCCACCAACGGCATGGTGTATTTCAGAGCGATGAGCAACATCAACTCCCTCCCTGAAGACCTCAAGATCTACGTTCCTCTGTTCTGCAGCGTCATTACGAAGTAGGAAACCACTTTATCGCTGCTATGTACTGTAATATACCATATACATCATCCAGTATATACCCATAAAACTGTTATGTGTGAAAACATACTGTGTATATGTAGTAAGCAATTTTAATTGATTACAATTATAGCAATATTATACAATGCTATTACAATTTCAAATTTGTATGGAAGTTTTAATTCATTCATGTGAAAGTCAAAGCTAAATTTTCAACATAAGTACTCAAGTCTTAAGTGTCAGAAATTATTCTTGCTAATTTTCATGCACAAAAAACAACTATTACTGCTTTTGTTGAAAAAACACTTCACATTTTTAAGAAAAGTGTGGTAAATTTCAGTCAGAAGAACAGAATTATTTAGATAAATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33024
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > A
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056294 Splice Site, Nonsense 909 1023 24 27

The following transcripts of ENSDARG00000038563 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 48229958)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 48261622
GRCz11 2 48115786
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGGGGCGGAGCTAGAATGGGAGGAGGCGGCCTGTTCTCCTTTTATTCCTA[C/A]AGGTACAAATGAATGAAAGCTTGTGAGATGCACATGAATTTTTTATATGT
Long Flanking Sequence:
CGGACACAATTTCAAACAAGTGGTTGCTCTTTTTCAGCTTTTATAAAGCAGATAAACGCAGCTATTCTCTAAATAAAATCCACTTTAGTCATTTAGCAACAAAGCTAGAGTCACTGGGCTGACAGAATCCCCGCCCATGGCGGGAATCCACGTCTGTTGTAAAGTGAATTTGATGTGCAAATGCAGCAAGTAAATTCAAAATGTTCTCATGTCTATTTACGTGCAAATATCGTGATTTATCCTTGCTTGCTGTATTCACAAATTGTCTGGTGTGAACACAGCATTAGCGCAATTAAAAAAACTATTAAAAAGCATTTTTATTTTTATAGAAGCATATTGTCTCTACTCCCCTTCAGTTTGTCATCTGTGTCTCTCAGTCTGTGTATTTTAGGAAGAATGATGACCGCCAAGTTCCTCCATGGAGAGATCAGAGAAAAGGGTGGAGCTTATGGGGGCGGAGCTAGAATGGGAGGAGGCGGCCTGTTCTCCTTTTATTCCTA[C/A]AGGTACAAATGAATGAAAGCTTGTGAGATGCACATGAATTTTTTATATGTCAAGTTCAACATGTTTTATTTTCTATTTGTAAGAGACCCAAATTCCACCCAGACGCTGTCTGCTTTTCGTGGTGGAGTGGAGTGGGCGCGAGCGGGGAAATTCACCCAGCAGGACATCGATGAGGCCAAGCTCTCGGTTTTCTCTGCTGTCGACGCTCCTGTTGCTCCTTCAGATAAAGGTCAGTCTTTAAAAGCACATCTGGAGTAGTGGTGGGCAAAGCGAGGCTTCATGAAACACTGAAACATTTTGAAGCTTCGAAACGTTTTGAAACCCGTCTCTAGAGGTCATTTTATGTATTGCACTGTAACAGCTTCAGTAAAGAAACAGTTACGCAAATTGAGGTATTAAACCCCACGTTATAGAGTTGAGGTTTTTAAGTGATTTAGGGAAGAGGTGAGAGTTCATGACTAGCATTCAGAGATAATGGGTTCGAACCCAGGGTGATGCAG
Associated Phenotype:
Not determined