Busch Lab

ZMP

LOC569706

Ensembl ID:
ENSDARG00000078284
Human Orthologue:
PHKB
Human Description:
phosphorylase kinase, beta [Source:HGNC Symbol;Acc:8927]
Mouse Orthologue:
Phkb
Mouse Description:
phosphorylase kinase beta Gene [Source:MGI Symbol;Acc:MGI:97578]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa18377 Nonsense Available for shipment Available now
sa21041 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa18377
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
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112543 Nonsense 223 1093 7 33
Genomic Location (Zv9):
Chromosome 7 (position 43270407)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 41915110
GRCz11 7 42250475
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCTTCTGTGTGGAGAGGGCGTACCGTGTGCCAGACTTTGGCATGTGGGAA[C/T]GRGGAAGCAAATATAACAATGGAAGCACAGAACTCCATTCAAGGYGAGYT
Long Flanking Sequence:
CCTACCTTCCTCGATGCCCCATTTTAGCGTGCTTTAGGGGCCCTCAGTTCTCTTCATGTTAAATTAAAAGCGCTGTCAACCCAGCCTCCCCGGGTGTTTGAACATTTCCTCATTTATGTACCGTAAAGTCATCATTCTTTCTCCCATCTTATTTTTCCTATGGCTTCATACCACATTGGTGGTGGAAGTATCGGGGGGCTTATGACATTACCAGTGCCACCCATAGTAGTGATGGATCACTTTAGCTGCTCTGTATGTTAAATCATTATTCAAATTCAATTCATGTATAATCAGAATATTAAATGGGTGACAAAAAGGAATCCTGATGCATTGGCTAATAAAAAAATGTAAACCTTCACATGTTGTTTGCTAATGTCTAGATTGAGAGCTGGGGGTGATGGGTTTCTCTGACATGTTTGCACTTGTAGGTATCATTTATTCAGAATCTAGTCTTCTGTGTGGAGAGGGCGTACCGTGTGCCAGACTTTGGCATGTGGGAA[C/T]GAGGAAGCAAATATAACAATGGAAGCACAGAACTCCATTCAAGGTGAGTTTTGTCACTTCTTTTCTTTTCCCTTCTATAGCTTTGTCATTAAATTATCCTGATACATGACAAGTTTTGGAGATAAAAACAATATGTCTAGATGATGGTATAGTTATTTTAATGTGTCTTACTGATCATATATAATAGCAGTTAATGAGTTTAATTTGTTTTTTATAGATGTAACTTGTTGATATTAACCAGAATGTTAATTATTTGTGCATAAACAGTTGAAGTCACAATTATTAGCATCCTGATTTAATAGGCCCCCTGCTTATTTTTGTTCTGTAGACCATCAAACAAATATAGCTTAAAGGGCTGATAATTTTAAAATGTTTTTTTTTTTTAAATAAAACCTGCTTTTATTCTAGTTGAAATAAAACAAATAAGACTTTCTCTACACGAAAATATAATATCAGACATACTGTGAAAATGTCCATGCTCTGTAAACATCATTTGGGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21041
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112543 Essential Splice Site 627 1093 20 33
Genomic Location (Zv9):
Chromosome 7 (position 43196755)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 41988762
GRCz11 7 42324127
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTTGGTTTTGTTTACAGTGATTTAAGAGAACAATGATATTTTGGTTTCT[A/G]GGGGGAGCCGATTTAACCCCATCCTGGACATGCTGGCATCTTTCAAGAAG
Long Flanking Sequence:
GATTTATCGAATCCTTGGAAAGACTGTGGTGTGCTATCCAATTGTCTTCGATCTCAGCGACTTCTACTTGTCGCAGGATGTCATGCTTTTGATAGATGACATTAAGGTGAGGCGGCTGATATCACACCCCAATGGTTCCTCAGACGCTGTGAAAAGAGGGCTCACTTTGTGTTCCATACTTTGTCTATCTTTCTATATAGAGAAAGAATCAAATTTGGGGAAGAAAATAGGCAATGGACAGAAACGTTCCCCATAAATCATCAGTGTCAGAGTTTTACAGAGCATTCCTCCTGCTGTCTTCACTGTGTGTATTAATTCGGCTGTGTTTATGTGTTTTTCTAGAATGCCTTGCAGTTTATTAAGCAGTGCTGGAAGATGCCTGGACGGCCTCTTTTTCTCGTACTTATCAGAGAGGACAACATTAAGTAAAAGTCTCTTTCATCAGCCAGAGCTTGGTTTTGTTTACAGTGATTTAAGAGAACAATGATATTTTGGTTTCT[A/G]GGGGGAGCCGATTTAACCCCATCCTGGACATGCTGGCATCTTTCAAGAAGGGAAACATTGGAGGAGTCAAAGTGCATGTGGATAGACTTCAGGTGTGCTGCTCTTTATAAGAAAGGATCGAATTTGAAATGTGTTCATTTCTACTAATGCATTGTTTCATGTTGTTGCATTACAGCATTGCATTTTAAAAATATTATTGAAATAATTAATACAGTAATTAGTTACCCATATTGGTCTCTTTACCTTGGAACAAAGTGAAGTAATTCTTGCTAATTACATTAAGACGACTGAACACAAGCAGACTTTACTACAACCAGTTATGAAATTTGACATAACTCTCTATTGCACGCATTATAATAGATCTATTAAACAAATATTGGACTATTTTTCTTTCGTAGAATGGCCTAACTTGATGTGCTTTAAAAAATTGGGTATTTTTTTTAAGGTACTTTATGATAATGGATCTAACTTAAGGCTGACTTATACTTCTGCGTCAAGCG
Associated Phenotype:
Not determined