Busch Lab

ZMP

snrpe

Ensembl ID:
ENSDARG00000033175
ZFIN ID:
ZDB-GENE-040426-1112
Description:
Small nuclear ribonucleoprotein E [Source:UniProtKB/Swiss-Prot;Acc:Q7ZUG0]
Human Orthologues:
SNRPE, SNRPEL1
Human Descriptions:
small nuclear ribonucleoprotein polypeptide E [Source:HGNC Symbol;Acc:11161]
small nuclear ribonucleoprotein polypeptide E-like 1 [Source:HGNC Symbol;Acc:20733]
Mouse Orthologue:
Snrpe
Mouse Description:
small nuclear ribonucleoprotein E Gene [Source:MGI Symbol;Acc:MGI:98346]

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa45438 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa45438
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
ENSDART00000050296 Essential Splice Site 18 92 1 5
Genomic Location (Zv9):
Chromosome 11 (position 38886528)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 37453547
GRCz11 11 37720752
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTACAGAGGACAAGGACAGAAGGTTCAAAAGGTCATGGTGCAGCCCATCG[T/A]ATCCTTTCAGGCCAAATAGCTGCATTGAGCTCTCGCCATTGTACCGATAT
Long Flanking Sequence:
GACTTTTTGAGAGCTAAAGTGGGAGTATGCCGATTATCTTTTGATCTTTTGCTACTTTGTTTATTTCTGATCGAGCACCTGCTTTTGAAATTTTTAGATGTGCGCACATTTCTGTTTTTTTTTTTTTTTTTGCTTTGAAACCGGTGTATTATTATTGCACATAACGTCTTAACAACTTTTAATAGTAGTATGCATTATATAAAGTTTAAATAAAGCATTATATAAAATTGTGTGAATCTGCCTTTCTGTAGTGTCTCCCCAAGCCACAGGAGGCATTACATAGAATCAGCGCGCCATTTTATCTGCGTCATTCTGTTTCCGGATTTGCGCCGCCATTGAAACAACAGCAGCCAACGTGAGATTTTCGTTGCCGCGCCAATAACTATTACACTTAATATCACATTTTGTCACTTTTTATAATAACATCCGGATATTATTGAGAAGAATGGCGTACAGAGGACAAGGACAGAAGGTTCAAAAGGTCATGGTGCAGCCCATCG[T/A]ATCCTTTCAGGCCAAATAGCTGCATTGAGCTCTCGCCATTGTACCGATATGTGTTGGATGTGTGCTGTTATATGTATAATGTAATATACTTTGACATATTATTGTATAATATAATATAGTTTAGCATATTATTGTAGGTAATATAAGTTGTGTTAGCTAACATTTTGAATACTAAATACTTTTAGCAATGTTTGAGCTGATTATAACAGTGTCCCTGCGTTACAAATGAATGAAAAAGGTTATGAATCGTGTTTATATGTCATTTGTTTCCTTAACGAGTCTTTCAGAACCTTATTTTCAGGTATCTACAGAATGTAAGTACTTGTTTTTCAATCTGCGACATACACAAGCTTTTATCTGTCCACATATGTCTATTTTTTCATGTGTTTATTGTATTTTTGTAGAGTAAAATCTTTATTCTGTTATACCTGCTGATTTATAGATGTCTTGATAAATATCAAAAGTGGTAGTTCTCTCAGAAATGAAAATATTGTAAGCAT
Associated Phenotype:
Not determined