zgc:56457

Ensembl ID:
ENSDARG00000038027
ZFIN ID:
ZDB-GENE-040426-1035
Description:
Nucleolar protein 12 [Source:UniProtKB/Swiss-Prot;Acc:Q7ZWE7]
Human Orthologue:
NOL12
Human Description:
nucleolar protein 12 [Source:HGNC Symbol;Acc:28585]
Mouse Orthologue:
Nol12
Mouse Description:
nucleolar protein 12 Gene [Source:MGI Symbol;Acc:MGI:2146285]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa19923 Splice Site, Nonsense Available for shipment Available now
sa25239 Essential Splice Site Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa19923
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 > T
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000055429 Splice Site, Nonsense 131 228 4 7
Genomic Location (Zv9):
Chromosome 3 (position 1927193)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 1385405
GRCz11 3 1154054
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CGACCATCAGCGACCTCGACCTATCAGCAGACAGATTGCTGGAGCCGGCA[C/T]AGGTGAACAGCCAATCATCAACTAGCGAATTATCCAGCACATGACGAGGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25239
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:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000055429 Essential Splice Site None 228 6 7
Genomic Location (Zv9):
Chromosome 3 (position 1928569)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 1386781
GRCz11 3 1155430
KASP Assay ID:
554-7434.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGAATGACTCGCTGAATCAATGACTTGCTAAATCCATACTCAATAAATCG[T/A]TGACTCGCTGAATCAATGACTCGCTGAATCGTTGACTCGCTGAATCAATG
Associated Phenotype:
Not determined

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