Busch Lab

ZMP

LOC567057

Ensembl ID:
ENSDARG00000017545
Human Orthologue:
GABRG3
Human Description:
gamma-aminobutyric acid (GABA) A receptor, gamma 3 [Source:HGNC Symbol;Acc:4088]
Mouse Orthologue:
Gabrg3
Mouse Description:
gamma-aminobutyric acid (GABA) A receptor, subunit gamma 3 Gene [Source:MGI Symbol;Acc:MGI:95624]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa31525 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa10772 Nonsense Available for shipment Available now
sa10534 Nonsense Available for shipment Available now
sa20755 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa31525
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
ENSDART00000022579 Essential Splice Site 237 447 6 9
Genomic Location (Zv9):
Chromosome 6 (position 38084768)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 38156368
GRCz11 6 38153904
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGACTTCATGGGCCTGAGGAACACCACTGATGTTATCAAGACGACCGCAG[G/A]TCTTTGTTTTCTGCTTTATCATTTGTTTTCTGATTTATTTGTTGAGCAGG
Long Flanking Sequence:
GAAATGTATATCATTGATGCAGCCATCATTTGTAAGATTAAAGTTCTTGAGCCTAAGGAACAGACCATACTGTTTCAAATCTCTCTCTTTTTCCAGGCCACAGGTTGTACGTGAGAAACACACATCTCAAGCTTGGGCATCTATCAAGATGGATGCTGTGTATAATCGAACCAAACTTCTCATTTACTTGTCCTCTCTCTCTGCCTTTGCCTTTCTTGTGCCGGTGATGTGCGTTTTATTAGCATGCTCTGGGCTACAGACGAATGCTGCAGTTCAATGCCTGACACTGAGCTGCACTCGGGCATCCATCACAAGTGAAGGGGGCGCTATGGGTCACTGGCTTATGCTCTGTGTAATTACAGATGGATACCCACGAGATGAAATGATTTACAAGTGGAGGAGGAACTCGGTGCAGGCGGCCGATCAGAAGTCGTGGAGGCTTTACCAGTTTGACTTCATGGGCCTGAGGAACACCACTGATGTTATCAAGACGACCGCAG[G/A]TCTTTGTTTTCTGCTTTATCATTTGTTTTCTGATTTATTTGTTGAGCAGGTTTATATAAAGACATGTCAAATATAAATTATTTACTTTTTTCTCACATAGCAAATTAACACGCAACTTGACTGTTACATAAAAATAAGCTAATAGGTTAAATAACAAAATGGGATTTAAATAACAAACAAGTAAAATAAAAATAAAAGAACTAAAAATCAAAACCAGCTTAAATTTTGTTGAATAAAACGTGTTACAGTAATGTACAAATATTTAATATCTGAAAAAGCGTTTTGAGAGGTGTTTTAACAGTTCAGAGCAACTTTTTCAGTTGCCAACTTAGCAACTTTGTCGCTATATTTACTGACTTTTTAGACCCCCTAAGCAACAAATTTTCAAAAAAGCGACTAGCGACAAATCTATCGACTTTTTGGGTGTTACTGGAGATTTTTATAGACTCTCATGTGTCCATACTGTACCGTCCCTACTCTTCTCAACGAGCTGCGGGTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10772
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
ENSDART00000022579 Nonsense 354 447 8 9
ENSDART00000022579 Nonsense 354 447 8 9
Genomic Location (Zv9):
Chromosome 6 (position 38068964)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 38140564
GRCz11 6 38138100
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCAATTATTACTCCTACAGCGCCCGCAGACCAACCTGCAACAAGACCAAA[C/T]GATCGGTGAGCATTTGTTCTGCATCAGTGATTTTATGCTGCTGAGATTGG
Long Flanking Sequence:
CTCCAATAAGCTTAATTCATTTACATGATTATGTACAAGTTACATTATTGTCATGTCTGCCTCATAACAGCCAAAGCAATGGAGTCTTATGGCGTTTAATCAGCTCTGCAGAGTAAAATAGCACAGCATAATTTGCTTAGAGCCAAAAAATGACAGTGTTTTCTTTTCAGCCGAGATATCAAACTACATTTTACACATGCTAACAATGTCAGCATACGCATTAGGTGATTTAGCTCATATTTTTCATTAGCAGACATTTCCCCTGTCACCAGCCTTTCCGTCTAATATTTTCTTCTGGTTATGCAGGAATAACAACGGTATTAACCATGACTACTCTCAGCACGGTGGCTCGGACATCGCTGCCCAGGGTCTCATATGTCACAGCGATGGACCTGTTCGTCACTGTCTGCTTCTTGTTTGTTTTCGCGGCTCTCATGGAGTATGCCACACTCAATTATTACTCCTACAGCGCCCGCAGACCAACCTGCAACAAGACCAAA[C/T]GATCGGTGAGCATTTGTTCTGCATCAGTGATTTTATGCTGCTGAGATTGGGTTCTGTTTTTAGGAGAAAGATGTGTATCCTGTTCACATGATATGATATGTAAGGTTTTACTGTCTTGCTGGTACAGGAACGCCATGAGATTCTGGATATTTATTAGATTTCATTTCGTAAAGATATATATTGACATATTCCATGGCCAATATTTGGATGTATTCAGGAGTTAATTCTTTTAGTTTGGAATCAGCTTGTTTTTTGTTTTGATTGAGAGAGTAGGGATGTGCATCATTACCTAAAAAACCACAACTCAGTATTTTCAAGGGATTTTTGATGATAGCTTTGATATAAGTTTTACTTTGTGTGTTTGTGTAATTAACAATAATTATCATTAATTGTTATAGAATAATAGTCTAAAAATATATCTATAAAACATACAAAGAATAAAGAATAGATTAAAAAGTTTTAGTGTTTTGCAGTGTGTTTTTATAGAATAAAAAAAAGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10534
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
ENSDART00000022579 Nonsense 354 447 8 9
ENSDART00000022579 Nonsense 354 447 8 9
Genomic Location (Zv9):
Chromosome 6 (position 38068964)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 38140564
GRCz11 6 38138100
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCAATTATTACTCCTACAGCGCCCGCAGACCAACCTGCAACAAGACCAAA[C/T]GATCGGTGAGCATTTGTTCTGCATCAGTGATTTTATGCTGCTGAGATTGG
Long Flanking Sequence:
CTCCAATAAGCTTAATTCATTTACATGATTATGTACAAGTTACATTATTGTCATGTCTGCCTCATAACAGCCAAAGCAATGGAGTCTTATGGCGTTTAATCAGCTCTGCAGAGTAAAATAGCACAGCATAATTTGCTTAGAGCCAAAAAATGACAGTGTTTTCTTTTCAGCCGAGATATCAAACTACATTTTACACATGCTAACAATGTCAGCATACGCATTAGGTGATTTAGCTCATATTTTTCATTAGCAGACATTTCCCCTGTCACCAGCCTTTCCGTCTAATATTTTCTTCTGGTTATGCAGGAATAACAACGGTATTAACCATGACTACTCTCAGCACGGTGGCTCGGACATCGCTGCCCAGGGTCTCATATGTCACAGCGATGGACCTGTTCGTCACTGTCTGCTTCTTGTTTGTTTTCGCGGCTCTCATGGAGTATGCCACACTCAATTATTACTCCTACAGCGCCCGCAGACCAACCTGCAACAAGACCAAA[C/T]GATCGGTGAGCATTTGTTCTGCATCAGTGATTTTATGCTGCTGAGATTGGGTTCTGTTTTTAGGAGAAAGATGTGTATCCTGTTCACATGATATGATATGTAAGGTTTTACTGTCTTGCTGGTACAGGAACGCCATGAGATTCTGGATATTTATTAGATTTCATTTCGTAAAGATATATATTGACATATTCCATGGCCAATATTTGGATGTATTCAGGAGTTAATTCTTTTAGTTTGGAATCAGCTTGTTTTTTGTTTTGATTGAGAGAGTAGGGATGTGCATCATTACCTAAAAAACCACAACTCAGTATTTTCAAGGGATTTTTGATGATAGCTTTGATATAAGTTTTACTTTGTGTGTTTGTGTAATTAACAATAATTATCATTAATTGTTATAGAATAATAGTCTAAAAATATATCTATAAAACATACAAAGAATAAAGAATAGATTAAAAAGTTTTAGTGTTTTGCAGTGTGTTTTTATAGAATAAAAAAAAGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20755
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022579 Nonsense 357 447 9 9
Genomic Location (Zv9):
Chromosome 6 (position 38063648)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 38135248
GRCz11 6 38132784
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAATGAGTTCTTCAGATTGTAAGTGTGTTGTTTTTGTCCTACAGAACTA[C/A]TCGGTACTGGACGTGGGTCCTCCTCCCACTGTTATCACTCTCAACAACTC
Long Flanking Sequence:
AATGTGTAATTCTTCCAATATCGTGCAGCCCTATTATTTATATTTTAAAAACTCAGATTCATTTACAACATTTAATTGAAACATTTAATTACTTTTTTTTTGTAGCTTAGCAATAACCCCCATCCCCCTCTATCATTCTTCCACTCTTCTAAGATGGGATGGTGGGCCAACTCAAGGGTTACAATGGGCCAACTTTGGCCCGTGGGTCCTACTTTGGGCGTCTCTGGGGTAGACAAACAGAGACAGACAAATGGACTGATAGGTAGATTTTCAGAGCAGCTAATGCAAGGGTTATTATTAGAGGAGGATAGAGTAGAACTCAAATATAATTGCATCTTTAACTTTTATATTTAGAACTTTATACCTTTAGTGGAGTAATATGTTTAGCATATCTGTACTTCTATTCAAGTGCTTATTTGCATATTTCATGTTTTCTTTTTGCATATTGCAAAAATGAGTTCTTCAGATTGTAAGTGTGTTGTTTTTGTCCTACAGAACTA[C/A]TCGGTACTGGACGTGGGTCCTCCTCCCACTGTTATCACTCTCAACAACTCCATGTACTGGCAGGAGTTTGACGATGCCTGCGTTTATGAGTGCCTGGACGGAAAAGACTGCCAGAGTTTCTTCTGCTGCTACGAGGAGTGCAAAGATGGAGCGTGGCGAAAGGGCCGTGTGCATATAGACATCCTGGAACTCGATGCATACTCTCGTGTCTTCTTTCCCACCTCTTTCCTATTGTTCAATGTTGTCTACTGGGTAGGCTACTTGTATCTTTAGCATTCCCACACACCTCATGAAGCAACAGACTTGACTTTTGGTTCTGTCAGAGCAGAAACGAAGCATGGACTAAACCAGGACTTTTCAAGGTATGTTTTAAAACAAAAGAGCGGATACTGGTTATCAAAGTTGAGCTGTGGTGATTCAAGGACTTCTCCTGTAGAAGACGAAAGTGACAAATGAGACCACAGAAACCGAAAGCTACAGCAGATAAATCAAAACCCTTA
Associated Phenotype:
Not determined