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
sa34142 Nonsense Mutation detected in F1 DNA Not yet available
sa18377 Nonsense Available for shipment Available now
sa21041 Essential Splice Site Available for shipment Available now
sa27013 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa34142
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112543 Nonsense 101 1093 3 33
Genomic Location (Zv9):
Chromosome 7 (position 43299720)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 41885797
GRCz11 7 42221162
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAGACTCGCTCTACTGCGCTGCCAGCATCTGGGCACTGGCATTGGCATA[C/A]AGGTCAGATACTGATTGGTACTGTACTTGGAAATACATTTTCATAAAATA
Long Flanking Sequence:
TGGTGCAAAGATTATTATGCATTATCGAAACACCAAGTAGGGCGCAGCAAAGAAATTTCACTTATTAAATTAAAACTAATTTATTATTTTATGCAACACCTTTAAATTTAAAAGGGAAAAATAAGGATCTTAAGCGGAAAAATAATAAAGACCCCTAGCCTATAAGGTGTTTTATGGAATATCTTAACCTCACCAGTCGCTATGTTTTTTCTTTGCTTTATATGTACTTATTACAAAGATGGAACTTTGCATTTAGTAAATCATGAATGTAATTTGTTTTGGTAATTTGGGTTTTTTCTGGGCTGTTAAATAAATATGCCTTTTAATCTGTTTTTGATCCCCATCCTTTTTTTATTTTTTGTAGTCAAGAGCACCATATTGAATTACCAGAGCCCTACCACTGGCCTGTTCCCGGTGAAGACCTGCTCCACCTGTAAGGAGGCTAAAGTCAGAGACTCGCTCTACTGCGCTGCCAGCATCTGGGCACTGGCATTGGCATA[C/A]AGGTCAGATACTGATTGGTACTGTACTTGGAAATACATTTTCATAAAATATGGGGTCACATTGATCTGTGCAGATCTTAAATTGTGCTTCGATTGTTAAATGTAAATGAATGTGTTGGAGAAACTGGCACTTTTCCAGTGCTCCCATTTACAACCATGCCATACTCACTAATGAATCAAAATCCATAAACCCATTATCATTATGAGCTGTCTTGTTAATATCATTGGTCTATTCCTAGTGCTATTAGATAAAAATGAATGGACATAGACATATAGTGCTGCATATATAAATGAACACTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATACACCCACTGACACGTAAAATCTGCATCTTTTTCAAGTTCAAAGCAAACTTGAGTGCTAAAACATTTTAGATAATGTTAAATGCAAATGATTTACTGATGGTGTACATATATTTTGCAGCCAGTTTAGACCAGTCATTTTGTTC
Associated Phenotype:
Not determined

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

Mutation Details

Allele Name:
sa27013
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112543 Essential Splice Site 877 1093 28 33
Genomic Location (Zv9):
Chromosome 7 (position 43180331)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 42005186
GRCz11 7 42340551
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGATGAATTTCCTTCAGTAAACTTGCTTTGTCATGCCTGCATTTCAATCA[G/A]GTGGATTGTTCAAGCCATGAAGCACGAGCTGAAGATTCGCGCTGGAGACA
Long Flanking Sequence:
ACAGAAATTTGTGACCCCAGTAGTATGTCTAATTTCATCAAATTTATAACACAGTAGGGAAAAAAGTACCTAGATGGCCTACTATTTAGACAAGTATGATCGTCACCATTTGCTTTTCCATAAGGCCATGGAGAGGGGATTTTGGAATGGTAGTGAAGTGATACTTCTGATATGTAGAGTAGTTGTGCAATGACCAGATTGCATTAATCCTAGACACATCCATATCATATTGAAGATGTTTCAAATCAAAAGTAGTATCTACTAAATAAGTATGCAATTTCAAAAGAAGCGTTATGCAGTATATTACACCTCATTCTTTCACATCACAAACTGTAGGTGAATTAAAAACTGAAGTTTACTTTGGGCTTAGACAAGTGAGCATGTTCACATCTGTAAATAATAGTCAATAAATCAGACTAATTTTGCACTGATCATTTCAATCATTTATTCAGATGAATTTCCTTCAGTAAACTTGCTTTGTCATGCCTGCATTTCAATCA[G/A]GTGGATTGTTCAAGCCATGAAGCACGAGCTGAAGATTCGCGCTGGAGACATGCCACCACAGGACATTTACCAGATGTCCCCTAGTGATGTCAAACAGCTCCTGCTGGACGTCCTCCAGTCTCAGCAGAGTGGCAGGTGCGGGACTCCCAACCATCTTTGTGCTACTGTAGACAATCCTGCCAAAGTTCAATTATCCGCTGTGTCCAGTTGCAACTGTAGTATAAAGTCTATCGTCATTTGGGTAATACTACGGTAGTTTTTTAAAGGATAATTGTCAAGTAATGATTTGTAGAATTTCCCAGATAAAGCAGTTGAAGGAAATAAGCTGAATATAAGCGAGTAAATTAGAAAAATTATCTAGTTTTAAGGTTTCATCAGGTTACTACATTAAATATTTTAAAGTTGTGAAAACATTACATTTGATGTCCTGTAGTAAGTTCGAAATTGACATTAAGGAGATTTGCAATGTTATAAATTATGTTTTATGTCAAATTTATGCT
Associated Phenotype:
Not determined