wdr48

Ensembl ID:
ENSDARG00000038543
ZFIN ID:
ZDB-GENE-030131-6622
Description:
WD repeat-containing protein 48 [Source:UniProtKB/Swiss-Prot;Acc:Q6PFM9]
Human Orthologue:
WDR48
Human Description:
WD repeat domain 48 [Source:HGNC Symbol;Acc:30914]
Mouse Orthologue:
Wdr48
Mouse Description:
WD repeat domain 48 Gene [Source:MGI Symbol;Acc:MGI:1914811]

Alleles

There are 7 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa33035 Essential Splice Site Mutation detected in F1 DNA During 2018
sa19892 Nonsense Available for shipment Available now
sa1439 Nonsense F2 line generated During 2018
sa39941 Nonsense Mutation detected in F1 DNA During 2018
sa13821 Nonsense Available for shipment Available now
sa33036 Nonsense Mutation detected in F1 DNA During 2018
sa11526 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa33035
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
ENSDART00000056248 Essential Splice Site 16 677 1 19
Genomic Location (Zv9):
Chromosome 2 (position 50376195)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 50071727
GRCz11 2 49805957
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GATGGCGACGCTTCACAGACAGAACGCCGCTGGACGGAGAAAGGTCCAGG[T/C]GATAATTTACAGATAATATTTGTGAAACTTTAAAGCTTATGGCAGTGCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19892
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056248 Nonsense 28 677 2 19
Genomic Location (Zv9):
Chromosome 2 (position 50378033)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 50073565
GRCz11 2 49807795
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTAATGTGTTTACAGGTTTCCTATGTGATTAGAGATGAGGTGGAGAAGTA[C/A]AATCGTAATGGTGTTAATGCTCTTCAGCTGGATCCTGCTCTCAACAGACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1439
Current Status:
F2 line generated
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 > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056248 Nonsense 236 677 8 19
Genomic Location (Zv9):
Chromosome 2 (position 50389297)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 50084829
GRCz11 2 49819059
KASP Assay ID:
554-1366.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTATTTCCTNNNTGTCTAGTGTCTCTCTGGAAGCTCGGACGGAACGATACGCT[T/A]GTGGTCTCTTGGCCAGCAGAGATGCATTGCCACATACCGGGTCCATGATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39941
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 > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056248 Nonsense 471 677 14 19
Genomic Location (Zv9):
Chromosome 2 (position 50396380)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 50091912
GRCz11 2 49826142
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATATTTTTCATATTCAGTGAATCTTGGTGGGCTGCTCTTGCAGGCCTTGT[T/A]GGAGTTTTGGCCCAGAACTCATATAAACCCAATGGAAGAGGAGGAAAATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13821
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056248 Nonsense 523 677 15 19
Genomic Location (Zv9):
Chromosome 2 (position 50396880)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 50092412
GRCz11 2 49826642
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACTTCCAGGTTCCACCACACACTCCYGTGATCTTTGGTGAAGCAGGAGGG[C/T]GAACRTTATTTAGGTCAGAATAACTATGATATAGTGACTAWGACTTTTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33036
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 > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056248 Nonsense 665 677 19 19
Genomic Location (Zv9):
Chromosome 2 (position 50403613)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 50099145
GRCz11 2 49833375
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGGATCCAAACATGGACCTCAGGACTGTGAAGCATTTCATCTGGAAGAGT[G/T]GAGGAGACCTGACCATTCACTATCGACAGAAATCCACATGAAGACCTCTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11526
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056248 Nonsense 673 677 19 19
Genomic Location (Zv9):
Chromosome 2 (position 50403637)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 50099169
GRCz11 2 49833399
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTGTGAAGCATTTCATCTGGAAGAGYGGAGGAGACCTGACCATTCACTAT[C/T]GACAGAAATCCACATGAAGACCTCYAATCGCTGTACAGAGCCCGTCACGT
Associated Phenotype:
Not determined

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