wdr45l

Ensembl ID:
ENSDARG00000021557
ZFIN ID:
ZDB-GENE-040426-863
Description:
WD repeat domain phosphoinositide-interacting protein 3 [Source:UniProtKB/Swiss-Prot;Acc:Q7ZUW6]
Human Orthologue:
WDR45L
Human Description:
WDR45-like [Source:HGNC Symbol;Acc:25072]
Mouse Orthologue:
Wdr45l
Mouse Description:
Wdr45 like Gene [Source:MGI Symbol;Acc:MGI:1914090]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa27847 Essential Splice Site Mutation detected in F1 DNA During 2018
sa41925 Essential Splice Site Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa27847
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 2018.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033237 Essential Splice Site 81 344 3 11
Genomic Location (Zv9):
Chromosome 12 (position 289874)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 272231
GRCz11 12 45532
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCTGGCTCTGGTCGGAGGAGGAAAAAAGCCCAAATATCCCCCCAATAAAG[G/A]TGTGTGTGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCTGTGTGTCCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41925
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 2018.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033237 Essential Splice Site 235 344 7 11
Genomic Location (Zv9):
Chromosome 12 (position 288153)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 270510
GRCz11 12 43811
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGCTGATCCAGGAGCTCAGAAGAGGATCCCAGACTGCCAACATCTACTGG[T/C]ACACACACACACACACACACACACACACTCTCTCTCTCTCTCTCTCTCTC
Associated Phenotype:
Not determined

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