Busch Lab

ZMP

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
sa7268 Essential Splice Site, Missense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa7268
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 > C
Consequence:
Essential Splice Site, Missense
Transcripts:
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
GRCz11 4 10814479
KASP Assay ID:
554-4950.1 (used for ordering genotyping assays)
KASP Sequence:
TGAGACGRAAGAGGCAAGAGGATATGGAGGAGTATGTTTGCCCYATGGAT[G/C]TGCWRATGCCTCAAAGCAGCAGTTTCCATAAGGGCATATATGAGGACAGC
Long Flanking Sequence:
CGTTCAGTGGATCTGGCAGAGTACGCCCCCAACCTGAGAGGAAGTGGAGTCCACGGAGGCCTAATGGTACATGCGATGAACATGTAAAAGCAGATTTACCACATTAAAGTTGTTGTACTACGATTTATACTTGCATTTCTCAGGTTTTGGAGCCCCGCTTCAATGTTGAGACGATGGCCCTGCTTCTTAACATCCCACCAAATAAGACGCTGTTGAGACGTCACCTTGCGACCCACTTCCATCTTCTGATTGGTTCGGAGGCACAGAAACAGAAGCAGGAGTATCTGGAAAACCCTGATTACACTGTGCTCACAGCCACAGCCAGAGTAAAGGCACGTTAAAGCTTATGAATATGTCAAAAATAACTGTGAACTCCTTTTTGACAGCAGAAATGTAATGTTGTCTTCTGCTTGTAGCCAAGAAGACTGTCATTCGGAAGTTTTGGGACACTGAGACGAAAGAGGCAAGAGGATATGGAGGAGTATGTTTGCCCTATGGAT[G/C]TGCAAATGCCTCAAAGCAGCAGTTTCCATAAGGGCATATATGAGGACAGCTTAGATAAGCTGGAGCAGGTACTGCAAATGCAATGACCAGAATGCAATGCTGCTAAAATGGCTAATCATAGTGCAAAAGCTTGTTATAATTGGCTATCTCTACTGGTTATACACAAAACACTCATATGAGCTGTAAACATTTACTAACATTTTAATTAAGCTTGAAGCTTTCAGAAAAATGGCTGAATACACTAAGCTGCATATTATTATTTCCACACAAGATGGCGCCAAACCCTCAAAAACAGCAGAGTGACAAATCATCACTTAAATATGTATATGAACAAACTCATTAACACTCAGGATGGTTCATAGTACTGAGTTGACCCTCTGTTATTAGTTTCAGCAGTTGTTATCTGGGAACAACATAGCTTTGAATGTTGACTGATCTGCTCATGTATTCCAGAGAGCTGTGTATATGTTAAATATTGTACATGATGTTATGCATCTCTG
Associated Phenotype:
Not determined