Busch Lab

ZMP

GBE1 (2 of 2)

Ensembl ID:
ENSDARG00000029051
Description:
glucan (1,4-alpha-), branching enzyme 1 [Source:HGNC Symbol;Acc:4180]
Human Orthologue:
GBE1
Human Description:
glucan (1,4-alpha-), branching enzyme 1 [Source:HGNC Symbol;Acc:4180]
Mouse Orthologue:
Gbe1
Mouse Description:
glucan (1,4-alpha-), branching enzyme 1 Gene [Source:MGI Symbol;Acc:MGI:1921435]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa38798 Splice Site, Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa38798
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:
A > T
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000064741 Splice Site, Nonsense 31 687 1 16
Genomic Location (Zv9):
Chromosome 10 (position 24480169)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 24079521
GRCz11 10 24048973
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTACAGACAGATCCGTACATTGCACATTATGAGGGAGAGCTGCGTAGA[A/T]GGTAAACGCCCTTTTGATAAACTTTTAATGAATTCCACTTGCCTGATTAG
Long Flanking Sequence:
CTTCTGATAACGATTTTGTTTTACTTCATTTAACAATCGCTGGACAGTTACACTAATACATAATAGGTTACAATCTAACTTAAAAGCTCATCAAAATTAAGAATATTTTAATTCTAAAACTTAAAACACAATGATAGAATGTTTTTGAACGACAGATAGTGATATCAATATCAGAATGTATTTGAGACTACTAAAAATGCTGAGAGACAACTAAGGCCATGTTTGCTGCCAGTGAAGAAATGTGTTTTATATGAAAGGAGGCCTGTTCCGCTGACTGGATTGCGCAACAGGCCAATGGATTGGTGGCTCCCCGGACTCGCTCTCCACCTCCCTTACGTTATAACTACTAGAGCCCCTTGAGCAAGAGATGCCAGTATATCTCTCATATTAAAATTCAGAGAGCCACAGCAATGGATTCAAGCACTGACGAGACTTTAAATCTCACCGCGTTTCTACAGACAGATCCGTACATTGCACATTATGAGGGAGAGCTGCGTAGA[A/T]GGTAAACGCCCTTTTGATAAACTTTTAATGAATTCCACTTGCCTGATTAGGTCGATTTATTCGTTGTATGCACATGGTTCTAGTGGGTTTTCCTCAAAATTATAAATTAAACTATAATCCGGATGTGTTGTTTTCTTACAAGCGTTGTTCATCATCGCGTCACTCTAGCGCGCGAGTCTTTGCTGCAGCAGTCCAATCAGAAATTCGCACGTGCTGTGCTGCACCTTGCATGCTTATTAAAGAAATATGAGTTGTTTGTATTTATGTACAATCGCTTCCACAGCTTAGAAATCTCTCAAAATGCCATTTATTATAATGCCAACATATATATGTAATTTTATAAAACATTAGTAATTTAAAGAAAATAAATATATCTTTCTAACCACCGGGTGTCGCTATTACATGCCTTCAATTAGGCAGCACTTCTTGTTATGAAATAAAACTAACCGACCAAACTGAAGGAAACATAATTGATAATCACATTTTGGCGAGACATGGCG
Associated Phenotype:
Not determined

Mutation Details

This allele has been removed from public view.

Allele Name:
sa3780
Status:
Allele not cryopreserved
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000064741 Essential Splice Site 396 687 10 16
Genomic Location (Zv9):
Chromosome 10 (position 24629664)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 24229016
GRCz11 10 24198468
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATTCTCACACATTTTCCCCCCACTCTCCATTTCCTCATGGATTTTTGTGT[A/T]GGATGTATCAGGGWTGCCAGRCCTGTGCAGGGCCATTGAAGAGGGAGGAC
Long Flanking Sequence:
AGAAGTGTCTTGAAAAATATCTAGTAAAATATTAATTGCTGTCATCATGGCAAAAATAAAATTAATAAGTTATTAGAAATGAGTTATTAAACTATTAGGTTTAGAAATGTGTAAAAAAAAATCTTCTTTCTGTAAAACAGAAGTTGGGGGGATAAAAAGGGGTATAATAATTCAGGGGGGCTAATAATTCTGACTGATGCCCTTCTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATGCAGTTTTAGTTTATAGTTCTTTGAATTACAGAGTCAGGGATATTTTCATCTAAAACAATCTGAAGGGTAATAGAAACCCGGCTACTAACTAGCTGTAGACCAGCTAAAATCCAACTTTCATGTTCCAAATCTCTGCTTAATCCGTATCATTCCAGAAGGGAATCCACATTCTCACACATTTTCCCCCCACTCTCCATTTCCTCATGGATTTTTGTGT[A/T]GGATGTATCAGGGATGCCAGGCCTGTGCAGGGCCATTGAAGAGGGAGGACTGGGCTTTGATTATCGTCTGACCATGGCCGTGCCAGACAAATGGATCCAGGTGAGCTCCCATCTCCCGTGATTTCCCTCCCTCCCTCCCTCTCTCTCTCCCAACACAGATGTTGCTCCTTTGTGTTTGGTTCTGTGCAAATGATGTTGTTTGATGTTTGCAGTTCACCGTTTTGAGGTCATCTCTTTTTATGAAGCTGCGTATTTGTAGTCTCTCTGCTGCCTCTGTCTCGCATCCAAATCTCCTCGCTGGCACGGCTCTATCTGCGCATGTATCAGCGTGGGCATTTCCGCTTTAATTCCAGCCAGGTTTTTGCATGGCAGTGCCTTTTTAAAATGACAAAAGGAAGAGTATTGATTGAGTTTGCTTCGTGGGTTCAGGGTGTAATCTGAGATCTGGCATGGGCTGTTTAGATAGCAGCATCCTCTTTTTTTCTGTCGGGGTTCTATTT
Associated Phenotype:
Not determined

Mutation Details

This allele has been removed from public view.

Allele Name:
sa3769
Status:
Allele not cryopreserved
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000064741 Nonsense 416 687 10 16
Genomic Location (Zv9):
Chromosome 10 (position 24629728)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 24229080
GRCz11 10 24198532
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
WTGCCAGRCCTGTGCAGGGCCATTGAAGAGGGAGGACTGGGCTTTGATTA[T/A]CGTCTGACCAWGGCCGTGCCAGACAAATGGATCCAGGTGAGCTCCCATCT
Long Flanking Sequence:
ATAAGTTATTAGAAATGAGTTATTAAACTATTAGGTTTAGAAATGTGTAAAAAAAAATCTTCTTTCTGTAAAACAGAAGTTGGGGGGATAAAAAGGGGTATAATAATTCAGGGGGGCTAATAATTCTGACTGATGCCCTTCTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATGCAGTTTTAGTTTATAGTTCTTTGAATTACAGAGTCAGGGATATTTTCATCTAAAACAATCTGAAGGGTAATAGAAACCCGGCTACTAACTAGCTGTAGACCAGCTAAAATCCAACTTTCATGTTCCAAATCTCTGCTTAATCCGTATCATTCCAGAAGGGAATCCACATTCTCACACATTTTCCCCCCACTCTCCATTTCCTCATGGATTTTTGTGTAGGATGTATCAGGGATGCCAGGCCTGTGCAGGGCCATTGAAGAGGGAGGACTGGGCTTTGATTA[T/A]CGTCTGACCATGGCCGTGCCAGACAAATGGATCCAGGTGAGCTCCCATCTCCCGTGATTTCCCTCCCTCCCTCCCTCTCTCTCTCCCAACACAGATGTTGCTCCTTTGTGTTTGGTTCTGTGCAAATGATGTTGTTTGATGTTTGCAGTTCACCGTTTTGAGGTCATCTCTTTTTATGAAGCTGCGTATTTGTAGTCTCTCTGCTGCCTCTGTCTCGCATCCAAATCTCCTCGCTGGCACGGCTCTATCTGCGCATGTATCAGCGTGGGCATTTCCGCTTTAATTCCAGCCAGGTTTTTGCATGGCAGTGCCTTTTTAAAATGACAAAAGGAAGAGTATTGATTGAGTTTGCTTCGTGGGTTCAGGGTGTAATCTGAGATCTGGCATGGGCTGTTTAGATAGCAGCATCCTCTTTTTTTCTGTCGGGGTTCTATTTCAGTCCCACTTTGTCCATCTTTCATTCGTCTTTTTTTGGCAGCCTTCTGAATGGCATTGAAAGG
Associated Phenotype:
Not determined