si:dkey-207j16.2

Ensembl ID:
ENSDARG00000045749
ZFIN ID:
ZDB-GENE-041210-298
Description:
hypothetical protein LOC565020 [Source:RefSeq peptide;Acc:NP_001038532]
Human Orthologue:
PPFIBP1
Human Description:
PTPRF interacting protein, binding protein 1 (liprin beta 1) [Source:HGNC Symbol;Acc:9249]
Mouse Orthologue:
Ppfibp1
Mouse Description:
PTPRF interacting protein, binding protein 1 (liprin beta 1) Gene [Source:MGI Symbol;Acc:MGI:1914783

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa7268 Essential Splice Site, Missense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa7268
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2017.
Mutation:
G > C
Consequence:
Essential Splice Site, Missense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000049282 Missense 869 934 26 28
ENSDART00000067256 Essential Splice Site 776 781 21 22
Genomic Location (Zv9):
Chromosome 4 (position 9879003)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 10815630
KASP Assay ID:
554-4950.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGAGACGRAAGAGGCAAGAGGATATGGAGGAGTATGTTTGCCCYATGGAT[G/C]TGCWRATGCCTCAAAGCAGCAGTTTCCATAAGGGCATATATGAGGACAGC
Associated Phenotype:
Not determined

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