ZMP

gabra5

Ensembl ID:

ENSDARG00000070730

ZFIN ID:

ZDB-GENE-081104-30

Human Orthologue:

GABRA5

Human Description:

gamma-aminobutyric acid (GABA) A receptor, alpha 5 [Source:HGNC Symbol;Acc:4079]

Mouse Orthologue:

Gabra5

Mouse Description:

gamma-aminobutyric acid (GABA) A receptor, subunit alpha 5 Gene [Source:MGI Symbol;Acc:MGI:95617]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa7585	Missense	Mutation detected in F1 DNA	Not yet available
sa8377	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa7585

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:

Missense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000104135	Missense	319	491	8	10
ENSDART00000138026	Missense	281	453	9	11

The following transcripts of ENSDARG00000070730 do not overlap with this mutation:

ENSDART00000144106

Genomic Location (Zv9):

Chromosome 6 (position 38311923)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	38383523
GRCz11	6	38381059

KASP Assay ID:

554-4210.1 (used for ordering genotyping assays)

KASP Sequence:

STACATGCCGTGCTTCATGACTGTCATTCTGTCCCAAGTCTCATTCTGGC[T/C]CAACCGTGAATCCGTCCCAGCCAGGACTGTSTTTGGTCAGTACTTCCTTC

Long Flanking Sequence:

AATTAAATAATCTTTGTGGTCAGACATTACAGTAACTGTCCACTACATGGTGCTAATGAGACGACCAACCAGAACATCAAAATGCTTCTAAAGGAAAAATTATGATAGCTTTTTGGGAAATTCCATAATTGAATAACTTCCAGATTTCTTTTTGATTATGCATCTGTCTTCCTTTGACTTGTGTCTCACTTCATATCTCTCTCTCTCTCTTTTTCTCATTTTCTCTTTAAACCTCTCAGCTGGTTTGCACTTATCCCCCCAAGAGTTTAATCACACGTTATCCATCCCTCTCTTAGTCCCTTTGTTTCTTCTTTTCATCACTGTTATTCTCGCCCGTTCACTCATTTCATTCTACTTTTTCTGTTTCATTGTTCCCCCTACAGGTCAATACACTGTAATGATGGCCCACTTCTACCTGAAGAGGAAGATTGGTTACTTTGTGATTCAGACCTACATGCCGTGCTTCATGACTGTCATTCTGTCCCAAGTCTCATTCTGGC[T/C]CAACCGTGAATCCGTCCCAGCCAGGACTGTGTTTGGTCAGTACTTCCTTCTGCACTTTATTTATTTATTGTTTGTGGTAATTCAGGCTTTATACAAAATGAAAAGTTTTTTTTTATATATTATACCTTAAATATTATGCATCTTACTACTACAAATTATTTTATATTAATTTTATAAAGCACAAACATTTGAATATTCTTTTTTCTTTCTTTTTTTTCTTTCTTTCTTTCTTTAGCATAAAAGCATAAAACACAGAAAATTAAATGACAGCAGCTCATTTCATTTAGCAAGATAATTTTAATGTTTTATGTAATTTTATATTTGATTAATTTCAGCTTTATGTCAATTTCAATTATTTTAGTTATCTAAGTATATACTAATGCTAATTGGTTGGTAAGACAGTATTTCCTTTTAATAGATTTTTAAATCTGATATTTACATTTTATTTCAGATTTATTTCAAAGACCAACACTTTTTTTTAACCCTTTTAGTTTTGTATA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa8377

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
ENSDART00000104135	Essential Splice Site	331	491	None	10
ENSDART00000138026	Essential Splice Site	293	453	None	11

The following transcripts of ENSDARG00000070730 do not overlap with this mutation:

ENSDART00000144106

Genomic Location (Zv9):

Chromosome 6 (position 38311886)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	38383486
GRCz11	6	38381022

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GTCTCATTCTGGCBCAACCGTGAATCCGTCCCAGCCAGGACTGWSTTTGG[T/G]CAGTACTTCCTTCTGCAMTTTATTTRTTTATTGTTTGTGGTAATTCAGGC

Long Flanking Sequence:

GTCCACTACATGGTGCTAATGAGACGACCAACCAGAACATCAAAATGCTTCTAAAGGAAAAATTATGATAGCTTTTTGGGAAATTCCATAATTGAATAACTTCCAGATTTCTTTTTGATTATGCATCTGTCTTCCTTTGACTTGTGTCTCACTTCATATCTCTCTCTCTCTCTTTTTCTCATTTTCTCTTTAAACCTCTCAGCTGGTTTGCACTTATCCCCCCAAGAGTTTAATCACACGTTATCCATCCCTCTCTTAGTCCCTTTGTTTCTTCTTTTCATCACTGTTATTCTCGCCCGTTCACTCATTTCATTCTACTTTTTCTGTTTCATTGTTCCCCCTACAGGTCAATACACTGTAATGATGGCCCACTTCTACCTGAAGAGGAAGATTGGTTACTTTGTGATTCAGACCTACATGCCGTGCTTCATGACTGTCATTCTGTCCCAAGTCTCATTCTGGCTCAACCGTGAATCCGTCCCAGCCAGGACTGTGTTTGG[T/G]CAGTACTTCCTTCTGCACTTTATTTATTTATTGTTTGTGGTAATTCAGGCTTTATACAAAATGAAAAGTTTTTTTTTATATATTATACCTTAAATATTATGCATCTTACTACTACAAATTATTTTATATTAATTTTATAAAGCACAAACATTTGAATATTCTTTTTTCTTTCTTTTTTTTCTTTCTTTCTTTCTTTAGCATAAAAGCATAAAACACAGAAAATTAAATGACAGCAGCTCATTTCATTTAGCAAGATAATTTTAATGTTTTATGTAATTTTATATTTGATTAATTTCAGCTTTATGTCAATTTCAATTATTTTAGTTATCTAAGTATATACTAATGCTAATTGGTTGGTAAGACAGTATTTCCTTTTAATAGATTTTTAAATCTGATATTTACATTTTATTTCAGATTTATTTCAAAGACCAACACTTTTTTTTAACCCTTTTAGTTTTGTATAGTGCAAACAATACCGTACCAAATTGCATGGTGTCATT

Associated Phenotype:

Not determined