si:dkey-77f17.3

Ensembl ID:
ENSDARG00000078989
ZFIN ID:
ZDB-GENE-050419-48
Human Orthologue:
ALPK3
Human Description:
alpha-kinase 3 [Source:HGNC Symbol;Acc:17574]
Mouse Orthologue:
Alpk3
Mouse Description:
alpha-kinase 3 Gene [Source:MGI Symbol;Acc:MGI:2151224]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa36662 Nonsense Mutation detected in F1 DNA During 2018
sa36663 Essential Splice Site Mutation detected in F1 DNA During 2018
sa1277 Nonsense Available for shipment Available now
sa23314 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa36662
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
ENSDART00000110843 Nonsense 112 1872 3 13
ENSDART00000141672 Nonsense 120 636 5 6
ENSDART00000145212   None 428 None 8
Genomic Location (Zv9):
Chromosome 18 (position 26668496)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 26741751
GRCz11 18 26724129
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGTACAAAGATGACATGGAGTTAGATCGATATTGTGGTCTTCCCAAATAT[G/T]AAATATTTCGCAATGGAAAAACTCACACACTCCACATCTACAAGTAAGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36663
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
ENSDART00000110843 Essential Splice Site 629 1872 5 13
ENSDART00000141672   None 636 None 6
ENSDART00000145212   None 428 None 8
Genomic Location (Zv9):
Chromosome 18 (position 26680089)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 26753344
GRCz11 18 26735722
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGTGATAAAGCCAATGTTACCTATTTAACAAGCAACTCTTTATGTCTCAA[G/A]GCTAAAGAAGACCAGGCTAAACCCAGCAGAACTGATGTTCCTGACTCTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1277
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:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110843 Nonsense 1516 1872 7 13
ENSDART00000141672   None 636 None 6
ENSDART00000145212 Nonsense 72 428 2 8
Genomic Location (Zv9):
Chromosome 18 (position 26689520)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 26762775
GRCz11 18 26745153
KASP Assay ID:
554-1192.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCAGTAGCACTGGCCATAGTCCAGGCTTCCAGCAGAGACTGTGGAGTGTA[T/A]GGCTGCTCAATCAAAAATGAATATGGGACTGACATCACTGATTACTTACT
Associated Phenotype:

Normal

Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037
whole organism
ZFA:0001094
quality
PATO:0000001
normal
PATO:0000461

Mutation Details

Allele Name:
sa23314
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:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110843 Essential Splice Site 1549 1872 9 13
ENSDART00000141672   None 636 None 6
ENSDART00000145212 Essential Splice Site 105 428 4 8
Genomic Location (Zv9):
Chromosome 18 (position 26690817)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 26764072
GRCz11 18 26746450
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAACATAGTGTTGTTAACCTACACTGAGTTTCTATATTTCTGTCTTCTCA[G/A]TTGGAGAAGAGATTGAGATGACACCAATGATGTTCACCAAAGGCCTGGCA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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