Busch Lab

ZMP

gabrd

Ensembl ID:
ENSDARG00000059763
ZFIN ID:
ZDB-GENE-081105-170
Description:
Novel protein similar to H.sapiens GABRD, gamma-aminobutyric acid (GABA) A receptor, delta (GABRD) [
Human Orthologue:
GABRD
Human Description:
gamma-aminobutyric acid (GABA) A receptor, delta [Source:HGNC Symbol;Acc:4084]
Mouse Orthologue:
Gabrd
Mouse Description:
gamma-aminobutyric acid (GABA) A receptor, subunit delta Gene [Source:MGI Symbol;Acc:MGI:95622]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa30910 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa34523 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa30910
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083416 Essential Splice Site 158 459 None 9
ENSDART00000132000 Essential Splice Site 168 469 None 9

The following transcripts of ENSDARG00000059763 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 55314728)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 53312846
GRCz11 8 53191425
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATAAACTCATACGCCTGCAGCCTGACGGAGTCATTCTCTACAGCAGTCGG[T/C]ACGCCAGTGTGTGTGTGTTTACAGGAGCTCAGTGTCACAATGTTTCAAAT
Long Flanking Sequence:
TAATGCATTATTAACATTCAAGTCCGTGCTTGTTAACATTAGTTAATGCACCATGAGTTAACATGAACTAACAATGAACTACTGTATTTACATTAACTAACGTTTACTAACATGAACAAATACTGTAGTTAGTAAATGTATTGTTCATTGTTTGTTCATATTAGTAAATGCATTAATTAACATTAATTAATAAACCTTATTGTAAAGTGTGACCTGACATATATAGTCAAATCGTCACTGTAATGCAGCGGATTGACACGGATATGTTTGTGTTGAAGGAATACACCATGACAGTGTTTCTGCGTCAGAGCTGGAGAGACGACCGTCTGTCCTACAACCACACGAACAAAACTCTGGGTCTGGACAGCCGCTTCGTGGACAAACTCTGGCTTCCGGACACCTTCATCGTCAACGCCAAGTCCGCCTGGTTTCATGACGTGACGGTGGAGAATAAACTCATACGCCTGCAGCCTGACGGAGTCATTCTCTACAGCAGTCGG[T/C]ACGCCAGTGTGTGTGTGTTTACAGGAGCTCAGTGTCACAATGTTTCAAATGTTTATTATGCATATCTGGTCGGCGCGATGGCGGGTACTGTCGCCTCTCAGTAAGAAGGTCGCTGGTTCGAGTCTTAGCTGGTCAGCTGGCGTGGAGTTTGCATGTTCTCCCCATGTTGGCGTGGGTTTCCTCTGGGTGTTTCCACCACAGTCCAAACACATGCGCTATAGGGGAATTGATGAACCAAACTGGCCGTAGTTTATGAGTGTGTGTGAACGAGTGTGTATGGGTGTTTCCCATTACTGGGATGCAGCTGGAAGGACATCTGCTGCGTAAAACATATGCTGGATAAGTTGGCGGTTCATTCCTCTGTGGCGACCCCAGATGAATAAAGGGACTAAGCTAAAAAGATAATGAATGAATGAATGAATGAATGAGTTATGCGTATTTCTCTTTCAGAATCACATCTACAGTCGCGTGTGATATGGATCTCACCAAATACCCCATGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34523
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000083416 Essential Splice Site 186 459 5 9
ENSDART00000132000 Essential Splice Site 196 469 5 9

The following transcripts of ENSDARG00000059763 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 55315263)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 53312311
GRCz11 8 53190890
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCAAATACCCCATGGATGAGCAGGAATGCATGCTAGACCTTGAAAGCTG[T/G]GAGTAAGAAGAAAACACACACAACTGCATCTCTCATTCATTTGACATTTA
Long Flanking Sequence:
TCACAATGTTTCAAATGTTTATTATGCATATCTGGTCGGCGCGATGGCGGGTACTGTCGCCTCTCAGTAAGAAGGTCGCTGGTTCGAGTCTTAGCTGGTCAGCTGGCGTGGAGTTTGCATGTTCTCCCCATGTTGGCGTGGGTTTCCTCTGGGTGTTTCCACCACAGTCCAAACACATGCGCTATAGGGGAATTGATGAACCAAACTGGCCGTAGTTTATGAGTGTGTGTGAACGAGTGTGTATGGGTGTTTCCCATTACTGGGATGCAGCTGGAAGGACATCTGCTGCGTAAAACATATGCTGGATAAGTTGGCGGTTCATTCCTCTGTGGCGACCCCAGATGAATAAAGGGACTAAGCTAAAAAGATAATGAATGAATGAATGAATGAATGAGTTATGCGTATTTCTCTTTCAGAATCACATCTACAGTCGCGTGTGATATGGATCTCACCAAATACCCCATGGATGAGCAGGAATGCATGCTAGACCTTGAAAGCTG[T/G]GAGTAAGAAGAAAACACACACAACTGCATCTCTCATTCATTTGACATTTATCAACACACACACATAAAATATATATATACACTCACTGGCCACTTTATTAGGTACACCTTACTTGTACCGGGTTGGACTCTCTTTTGCTCTCAGAACTGCATTAATCCTTCGTGGCAGAGATTCAGCAAGCTACTGGAAATATTCCTCAGAGATTTTGCTCCATATTGGCATGATAGCATCACGCAGTTGCTGCAGATTTGTCGGCTGCACATCCATGATGCCAATCTCCCGTTCCACCACATCCCAAAGCTGCTCTATTGGATTGAGCTCTGGTGACTGTGGAGGCCATTTGAGTACAGTGAACTCATCGTCATGTTCAAGAAACCAGCCTGAGATGACTGAGCTTCATGACATTGATACAAACACATACATAAAAACATGCTTACATGTAAAATATTCCAACATATATAATCCTGTGTCATTTCAATTCTTTTAAAATGATGTGTTTT
Associated Phenotype:
Not determined