Busch Lab

ZMP

phkg1b

Ensembl ID:
ENSDARG00000069498
ZFIN ID:
ZDB-GENE-050522-52
Description:
Zgc:110610 protein [Source:UniProtKB/TrEMBL;Acc:Q503G9]
Human Orthologue:
PHKG1
Human Description:
phosphorylase kinase, gamma 1 (muscle) [Source:HGNC Symbol;Acc:8930]
Mouse Orthologue:
Phkg1
Mouse Description:
phosphorylase kinase gamma 1 Gene [Source:MGI Symbol;Acc:MGI:97579]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa43652 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa43651 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa43652
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000101205 Essential Splice Site 28 394 2 10
ENSDART00000129619 Essential Splice Site 28 44 2 3
Genomic Location (Zv9):
Chromosome 21 (position 25065386)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 25648723
GRCz11 21 25685328
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGTGGACAAGAATTTTATGACAAATATGATCCAAAGGAGATCTTGGGAAG[G/T]TTAGTGTCACCCTGATGAATTTGTGTCTGCAATCTATGACAAAATTAATA
Long Flanking Sequence:
GTTCGACCGAAACAATTCGACTGATTCACTAAAATGATCCGACTCGTAAGAACGATTCGCGACACTGACATCGCTGTTTTACAGCCAAAGTCAAGTCTTCTGGGCAGAGAACTGGAGCACAATTAAAGGCTGTATAAAGAAACGACAAAAATAATCAACTTCTGAAGCGGTTTGTTCTTGGAGGTGTTGTTTATGAGCGTCGTCTGTTGTTATGAGCTACAACTGAGGCATAAAAAGGTTACTGAAGGACGAACGGCTAGGTGAGTGAATTCAGTTCGACTCAATTACATTTTGCAGGAAAACAATCATTAAAATCATTATTATTTATTAGTATTCAATGAAATACTGGTATGCACATGTCTGTGTCTGTGTGTTAAACTTTAAGGCATTATTTTGAAGCACGTCCAATTCATCAGAATGACAAAAGAAGAGGAAAACCCTGACTGGGTTGGTGGACAAGAATTTTATGACAAATATGATCCAAAGGAGATCTTGGGAAG[G/T]TTAGTGTCACCCTGATGAATTTGTGTCTGCAATCTATGACAAAATTAATAGCATAAATGCAAGTCTTACATCAAAAAATAGGCTATTTTAAATATGGGATTTGAAGTCTTGGGTTTGTTTTGAATTTTTCTCCCAGGGGTGTGAGCAGTGTAGTTCGCAGATGTGTGGATAAACGGACTGGTCAGGAATATGCAGTAAAGATCATAGACATCACACCATCAGACAAAATGACACCCCAAGAGATACAAGAAATCCAGCAGGCCACTGTGAAAGAGATCGACATTCTTCGAAAAGTGTCTGGACAAAAGAACATAAGTATGACTATCTACTGCCCCTCAAAGACTTTCACATCACATTCAACAAAATCGAAGGTTATGGCTCTATAATATAAAAAAATCTATTTCATTACAAAAGTAAAAACTGCAATTGTTTTTTTTGTAACAACATACAAATGTAGGTTTTGTTTGTCCCTGGTAGTTCAACTCAAGGATTGCTTTGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43651
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000101205 Essential Splice Site 88 394 4 10
ENSDART00000129619 None None 44 None 3
Genomic Location (Zv9):
Chromosome 21 (position 25064909)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 25648246
GRCz11 21 25684851
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGTTTTTTTTGTAACAACATACAAATGTAGGTTTTGTTTGTCCCTGGTA[G/T]TTCAACTCAAGGATTGCTTTGAATCAAAGGCCTTCTTCTTTTTGGTATTT
Long Flanking Sequence:
GATCCAAAGGAGATCTTGGGAAGGTTAGTGTCACCCTGATGAATTTGTGTCTGCAATCTATGACAAAATTAATAGCATAAATGCAAGTCTTACATCAAAAAATAGGCTATTTTAAATATGGGATTTGAAGTCTTGGGTTTGTTTTGAATTTTTCTCCCAGGGGTGTGAGCAGTGTAGTTCGCAGATGTGTGGATAAACGGACTGGTCAGGAATATGCAGTAAAGATCATAGACATCACACCATCAGACAAAATGACACCCCAAGAGATACAAGAAATCCAGCAGGCCACTGTGAAAGAGATCGACATTCTTCGAAAAGTGTCTGGACAAAAGAACATAAGTATGACTATCTACTGCCCCTCAAAGACTTTCACATCACATTCAACAAAATCGAAGGTTATGGCTCTATAATATAAAAAAATCTATTTCATTACAAAAGTAAAAACTGCAATTGTTTTTTTTGTAACAACATACAAATGTAGGTTTTGTTTGTCCCTGGTA[G/T]TTCAACTCAAGGATTGCTTTGAATCAAAGGCCTTCTTCTTTTTGGTATTTGATCTGTAAGTAAACCTTTTTTTCTTTCATTGCATGCAACTTTCATGTCTGTGCCTCATTATTTTTATTGACAAAACACATCAAGGACTTGAGTTAAAAAAAAAGTCTAAGTAAAAAAGTGCTTTTAGTATAAAGTATTAAGATTATATAAAAAAACATTAAAAACAAATCTTAAAATTAACGGAAATAAAACAGCAGCTGTGATTTTACGGTAAATAACCAGAGCTTTTTTTATACCAAAGTTTTGAAGAACAAACATCTGCACAACTTAACATTGGTTCATAGATAATACACAACCATAAGCAGGTTTGGATGAGAAAGTCATATGGTGACCCAATGCCCATCACAACTTTTCCTACAAGCAAAGAAATATACTAATTAGGGCTGGGCGATTAATCGAAAAGTCATCGAAATTGACATTCATAATCTAAAATCGATCAAATTTTTATA
Associated Phenotype:
Not determined