Busch Lab

ZMP

zgc:158281

Ensembl ID:
ENSDARG00000063247
ZFIN ID:
ZDB-GENE-030131-2752
Description:
pleckstrin homology domain-containing family M member 1 [Source:RefSeq peptide;Acc:NP_001082872]
Human Orthologues:
AC103810.1, PLEKHM1, PLEKHM1P
Human Descriptions:
Uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:C4AM83]
pleckstrin homology domain containing, family M (with RUN domain) member 1 [Source:HGNC Symbol;Acc:2
pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene [Source:HGNC S
Mouse Orthologue:
Plekhm1
Mouse Description:
pleckstrin homology domain containing, family M (with RUN domain) member 1 Gene [Source:MGI Symbol;A

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa6231 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa6231
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092241 Essential Splice Site 315 845 5 12
ENSDART00000129644 Essential Splice Site 528 1058 5 11
ENSDART00000139801 None None 194 None 4
ENSDART00000145149 Essential Splice Site 315 845 5 11
Genomic Location (Zv9):
Chromosome 12 (position 5911022)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 4912016
GRCz11 12 4946973
KASP Assay ID:
554-4878.1 (used for ordering genotyping assays)
KASP Sequence:
GCAGACGAGCTTCAGCCTCCTCCCAGTGTTGTGCACCGGAGACACAACGG[T/A]AAGATGGAAAAAAGATGTTAAACGTCATGTTGTCTGCCTAATTCTGTTGC
Long Flanking Sequence:
TAAACTAGGCTAGGCTTAGGCCCAAGCCAAACAGTTGAACAAAATTGATCATCTTTTTATATATATAATATATATATATATATATATATATATATATATATATATATATATAAATAAGTAGTCTAGCAATTAAATTGAACAGATTAGATTCATTTACAGAGATATTAAAATTCATTTACAGAGTTGAATGAAGGATTTTTTTCCCCTTAGGATAATGACGAATGCTGTACCTGATATGTATTCAAACTCTCACCAAATTCGTGTCAACACCTAGAGGATTGATGCTAACAGATGAAAAACTGGCCTAACAGTTTTATTTGTGTCTCTCAGAAATCTACATCTTGGATCTCAGAGGAGGATTTCCACAAACCCGAAGACTTGAGTATTTCTGAAGCTTATGCCATCATTGACGTCACTCCGATGAACGGGCAGGTGTCTCCTGTGTGTGAAGCAGACGAGCTTCAGCCTCCTCCCAGTGTTGTGCACCGGAGACACAACGG[T/A]AAGATGGAAAAAAGATGTTAAACGTCATGTTGTCTGCCTAATTCTGTTGCCTTTAATTTTGCCTGTATTTATAACTTCCTTCTTTGAGAATAACGACCTTAAAAAAAACAATCAGTCATTTCTGCACTTCCTTTTAATGGGTTTCATGTAGATATTAAGTGCTGTGAGAACCTATAAAAAAGCTGCCAATGGTTAAAAATGCTCCACGTGTACCACATGGTATGAAAGCCACACGATTTCTATGCAAGATCATTGCTGTCATGGCCAAATAAGCCAGATATGATGGTTATGTTTTTCATATCTGGGTCTAATCTGTCAACTAACTGTGAACTAAGTCATAGTGATAATAAAAGACAGAATTATTAATTATTCAAAGCAATCCTGTTTAAATGTAATGTTCCAGATAAGAAAAGTATCAAGAATAAATCAAATCTGTTCCCAAATGCTATAGCAGTGGGACTTAAGATTGGATCTTAAATTTCTCCATACTTGATTGTAAC
Associated Phenotype:
Not determined