Busch Lab

ZMP

slc6a11

Ensembl ID:
ENSDARG00000074002
ZFIN ID:
ZDB-GENE-030131-3729
Description:
solute carrier family 6 (neurotransmitter transporter, GABA), member 11 [Source:RefSeq peptide;Acc:
Human Orthologues:
SLC6A11, SLC6A12, SLC6A13
Human Descriptions:
solute carrier family 6 (neurotransmitter transporter, GABA), member 11 [Source:HGNC Symbol;Acc:1104
solute carrier family 6 (neurotransmitter transporter, GABA), member 13 [Source:HGNC Symbol;Acc:1104
solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 [Source:HGNC Symbol;
Mouse Orthologues:
Slc6a11, Slc6a12, Slc6a13
Mouse Descriptions:
solute carrier family 6 (neurotransmitter transporter, GABA), member 11 Gene [Source:MGI Symbol;Acc:
solute carrier family 6 (neurotransmitter transporter, GABA), member 13 Gene [Source:MGI Symbol;Acc:
solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 Gene [Source:MGI Sym

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa13047 Nonsense Available for shipment Available now
sa15368 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa13047
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
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Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000103757 Nonsense 295 590 7 14
Genomic Location (Zv9):
Chromosome 6 (position 40565979)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 40637579
GRCz11 6 40635115
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTCRTATGCCATTTGTCTGGGTTACCTCAGCTCTCTTGGAAGCTACAAT[C/T]AATATAATAATAACTGCTACAGGTGAATGTWCATTTKAATTRAACAGATG
Long Flanking Sequence:
TACTTCTGCATCTGGAAAGGCGTGAAATCAACTGGCAAGGTTACACTTCTAACATACAGCAATACAATCATTTTAATTTATTTTTCATTTTGTTGCAGATAACAAAAATGTAAACATGCAATACACTAACACTTAAAAGTCACATCATCACTGAAATATTTGTATACTTACAGGCAGTCTATTTCACAGCAACATTCCCTTATGTTATGCTCTTGATACTGCTGTTACGGGGGGTCACTTTACCTGGTGCCCTCAACGGCATCTATTATTACATGTATCCAGATCTGACACGACTAGCAGACCCACAGGTAAAGGCATAGAATGAGACCTGAACTCATAATTCAACATTAGCACACACTTTGTTTGTTTGTTTTTTTATGTTACACTATTTGAATTGTATTTTTTTGTTTGTTTGTAAGGTATGGATGGATGCTGGTACGCAGATCTTCTACTCGTATGCCATTTGTCTGGGTTACCTCAGCTCTCTTGGAAGCTACAAT[C/T]AATATAATAATAACTGCTACAGGTGAATGTACATTTTAATTAAACAGATGAAATGATTCTTGATTAATTCAATGGTAAGGAATTGAATGAAGTAACTGGATTGTGCTATGTCTTTCTGTCTGTATATAATATTTATTTAAACTACTTAACTCTTTACTTATATTGAAATATGTATTATTTTAATACATTTATGTTGTAATTTTGCTAAGGTTTAAAAAATGTTTCTACAGAGACTCCTTCTACCTGTGCTTGCTGAACAGTGGAACCAGTTTTTTGGGTGGGTTTGCCATTTTCTCTGTTCTGGGTCACATGGCACAGGAGCAAGGGGTGGATATTTCCCTTGTGGCTGAATCAGGTCAGAGATTTCTTGACTGTTGCTTTGAAACATTTAACATGTACATTTAATAGAAATGTCATTGCTGTTTTAATATAGTTTCATTGTCATAGAGAGAGTGCGAGTTAATTCATTTTTATTATTTATTAATTAATCAGTCACAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15368
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:
A > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000103757 Essential Splice Site 382 590 10 14
Genomic Location (Zv9):
Chromosome 6 (position 40570389)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 40641989
GRCz11 6 40639525
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTCATCCCCTGTTCCTGYCTTCCCATYCAATGTCTTTTCTTTTGTTAYTC[A/C]GTTTGTAGGACTGGAGAGTATAATGACATCAGTGACAGACWTATTTCCCA
Long Flanking Sequence:
AGTCGTCGTCGTAGTAGTAGTAGTAGTAGTTATCGTAATAGTAATAGTCTTCATCATAGTAGTAGTAGTAGTAGTAGTAATCATAGTTATAGTAGTAGTAGCAGATGTAGTTGTTGTAGTAGTAGTAGTAGTAGTATTAGTCATAGTAGTAGTGGATGTAGTAGTAGTAGTAGTAGATGAAGTAGTAGTTGTAGTCGTAGAAGTAGATGAAGTCGTAATACTCGTAGTAGTAGTAGTATTAGTAGTAGATGTAGTCGTGGTAGTAGTAGTAGTTGTAGTAGACATGGTCATAGTAGTAGTAGTAGTCTTATGGAAGTCAGTTTCTGTTTTTTACCAACATTCTTCAGTATATCCTCCTTTGTGGTAAACAGAAGAAAGGAACTCAAACAGCTTTGGAAGAATTAGTACTTTTTGATGAACTATCCCTTTAATCCAACTTTCCCTTTTAAATTCATCCCCTGTTCCTGCCTTCCCATCCAATGTCTTTTCTTTTGTTATTC[A/C]GTTTGTAGGACTGGAGAGTATAATGACATCAGTGACAGACATATTTCCCACTGTACTGAGACGCGGCTTCAGAAGAGAGATGCTGCTTTTAGGGATTTGCCTGGTCTGCTATTTCATGGGTCTTCTTATGATCACAGAGGTGGGGTCACTTGTTCCTATACTGTAAACACAGCAATAAGTCTATAAAGTTTGTAGCTTGATTTTATAATTCAATATTTGTGCTACTCTGATTGGTGAAATAACATCACCTAAAATTGACATTTTCTTTTTACAAAGTTTATTTAAAGCATTAAAGACGGCATCTAATACATATATTTTTTTAAATATGAAAAAAACTATTGCGGTTAAACTTGAAATAAAAATATGTATAATCAGTTTTATAATTGCAGTTATTAAAAACTGTATTTAAATTGTAATTTATTTAAAAACATACTTTGTAAATAAGTTTATTACTAGTACTTAGCAAAGATTAGTTAAAATTAAACACATCCAAAATAAAA
Associated Phenotype:
Not determined