Busch Lab

ZMP

ENSDARG00000086554

Ensembl ID:
ENSDARG00000086554
Human Orthologue:
PNPLA1
Human Description:
patatin-like phospholipase domain containing 1 [Source:HGNC Symbol;Acc:21246]
Mouse Orthologue:
Pnpla1
Mouse Description:
patatin-like phospholipase domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:3617850]

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa37609 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa37609
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000124604 Essential Splice Site 68 325 1 6
Genomic Location (Zv9):
Chromosome 23 (position 5229104)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 5215904
GRCz11 23 5131321
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACCAACTTCATCAGACTGGTGGATGCCATATTCGCTCGAGACTGGAGGG[T/G]GAGTTTGTGTGGAGCTTTTTTAGAGCTTTTACTGTCCACTTGGACGAATA
Long Flanking Sequence:
ATGTAACATGTATGATCTTCATTTGTCAGTTGAAGAAAAGTAATTTTACACTTTTGTTGTGTTCTTGTCAAATCTAATGTTAAAAATTTAAATTGTCTAGTAATTTGATCTATATTTCCCAGTTAAACTGACTTTTTTCTCCTCAACAAGGCGCTTCTGTGCAGCTGTTTTATTCCTGTTCTCGCTGGTGTGATTCCACCCCAATATAAAGGCGAGGTAAGTAAAAGTAAAAACAAACAAATAGCTTAAAATCAATACTACTTGAAATAAGCATCTCTGCTTTTACCAGCACTTTATGGATGGAGGCTTCACCAACATCCAGCCCTTGGAGGACTCCTTTCCCGCCCTCACTATCTCCCCATTTGCTGGAAACATGGACATCTGTCCTTCTGACTCCTCCACCAGCCTCTGTGATGCCATCATCCAGCAGCTGGCCTTCCAGTGCTCACTCACCAACTTCATCAGACTGGTGGATGCCATATTCGCTCGAGACTGGAGGG[T/G]GAGTTTGTGTGGAGCTTTTTTAGAGCTTTTACTGTCCACTTGGACGAATAAAAATAGCTTTTTTTACAGAAATGTATTTGAAGAAACATTATTAGACATCCAAAGAACATTACGATGACAAGTTGCAATTTAACTGCACTTTGCACATAAACAGCGGGGGAAATACATATTCAGCACATCACCATTTTTCTCAGAAAACATATTTCTTAAGGTGCTGTTGACTTGAAATGTTCACCAGATGTTGATAACAACCAAAGAAATACATATGTAAAAAGAAAAAAAGTGTTGTGTATTAAAATGAAATAACAAAAAAAAAAAGTATTGAACACATGAAGAAAGGGAAGTATAAAAAGGCAGTGAAAGCCAAGACAACAGCTGAAATCTCTCCGTAGTTATTCAGCAACCCTCTGTCAATGTAAATAATATTAGCTGCTTCAGTCCAACATTTGCATTACCAGAATGATGAAGATGAAACCAGACTAGACATTTAAGCAAGACAA
Associated Phenotype:
Not determined