Busch Lab

ZMP

si:dkey-126h10.1

Ensembl ID:
ENSDARG00000078070
ZFIN ID:
ZDB-GENE-070424-201
Description:
Novel protein similar to vertebrate solute carrier family 32 (GABA vesicular transporter), member 1
Human Orthologue:
SLC32A1
Human Description:
solute carrier family 32 (GABA vesicular transporter), member 1 [Source:HGNC Symbol;Acc:11018]
Mouse Orthologue:
Slc32a1
Mouse Description:
solute carrier family 32 (GABA vesicular transporter), member 1 Gene [Source:MGI Symbol;Acc:MGI:1194

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa12972 Essential Splice Site Available for shipment Available now
sa23622 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa12972
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109269 Essential Splice Site 254 400 2 4
ENSDART00000136645 Essential Splice Site 254 397 2 3
Genomic Location (Zv9):
Chromosome 20 (position 1747742)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 1703607
GRCz11 20 1777953
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGCCTTCTCTGTGCTGGYCTTCCTAACKTGGGGAGAGGAAACTAAAGAGG[T/C]GCGCTGATCTCACATGMCTGTAGACATCGCTAAMGTCCTGATATACTTCA
Long Flanking Sequence:
AAAGGTTGTGAATGTGGCGCAGCTGGTTGAGCTAGTCATGACCTGCATCCTCTACTTGGTTGTGAGCGGTAATCTGATGTGCCACAGCCTGTTTTTCCTGCACCTGAGCCCGACGACCGGCTCCGCCATCAGCTTTCTGATCCTACTGCCCTGCATGCTGATCCGAGACCTGAGGGTGGTGTCCCGCCTCAGCCTCTTCTGCTCGCTGGCTCAGTTCCTCATCACCTTCATTGTGATTGGCTACTGTGTGCGCCAGTCTCCGCAGTGGGCCAGCAGAAGTCTGCGTGCAGATGTGGTGGACTTTGATGGCTTTCAGGTGGCGGTGGGGGTGATTATCTTCAGCTACACCTCACAGATCTACCTGCCCACGTTGGAAGAGAGCATGATGGACCGGCTGGACTTCAACACCATGATGGACTGGACTCACGCTCTGGCCTGTGTCCTGAAGACGGCCTTCTCTGTGCTGGCCTTCCTAACGTGGGGAGAGGAAACTAAAGAGG[T/C]GCGCTGATCTCACATGACTGTAGACATCGCTAACGTCCTGATATACTTCAAATTAAATTGAAGAATTAACTGAAACATTATAATGTATTATTTTGAAATCTGGCCAATCATTTCAAGTTTAAGTTTTGTGTTTTGTTTTTGTTTTTTGACACCTTTGAGCTACATTTGGCCTAACCCTAACCCTAATATGAGCCAACTGGTTTAATCATGAGCACGTACTCCTCTCGAAATTATTTTAATAAATTAAACTTCACTTCATGTAAAGCACTTTTAATTACCATTGTGTATGATGTGCTAAAAATAAACTTGCCTTGCCTTGCCTTTAAGTCAGGGGTGTCCAAAGTCGGTCCTGCAGATTTTACCTCCAACTTGCCTGAACACACCTTCAAGGATGTTTCTAGAAAGCCTATAAGAGCTTGATTAGCTAGCCTAGGTGTGTCTGGTTGGGGTTGGAACTAAACTTTGCAGGACACCGGCCCTCCAGGACCGAGTTTGGACAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23622
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109269 Nonsense 388 400 3 4
ENSDART00000136645 Nonsense 388 397 3 3
Genomic Location (Zv9):
Chromosome 20 (position 1746807)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 1702672
GRCz11 20 1777018
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTTACTGCTGGGCGGATTCTGCAGCGTCTCCGGGGTCATCTGCTCCATC[A/T]GAGGGATGATAACCGCCTTTGAGGACAAGTAGATAACACGTCGTCCTGTC
Long Flanking Sequence:
TGTGTCTGGTTGGGGTTGGAACTAAACTTTGCAGGACACCGGCCCTCCAGGACCGAGTTTGGACATGCCTGCTTTAAGTGGACTTTTATTATTATTTTCAGGTGATAACAGATAACCTGCCCTCTGCTCTGCGTACCGTGGTGAATCTGTGTCTGCTGGCGAAGGCTCTGCTCTCGTACCCGCTGCCATTCTATGCTGCGGCAGAAATACTGCAGACAGGCCTCCTGAAACTGGACTCCGGGTCTGAGCGGTGGACGCTGCTGCTGCTGCGTGGTTCTCTGCTGCTGCTCACCCTCCTCATGGCACTGTTCGTGCCCCGCTTTTCCCTCCTCATGGGCCTGACGGGCAGCGTGACAGGGGCGGCCATGACTCTGCTGCTGCCTGCTCTCTTCCACCTGCAGCTGAAGTGGACGCAGCTGGACCTGAGCCGGAGAATGCTGGACCTGCTGATCTTACTGCTGGGCGGATTCTGCAGCGTCTCCGGGGTCATCTGCTCCATC[A/T]GAGGGATGATAACCGCCTTTGAGGACAAGTAGATAACACGTCGTCCTGTCTGCCTCAAGGTTATTTTAGTAAACAACAACTCAGGCCTGTCCATATGAACACAGGTGTTTTCAAAGCAGCAGTTTTGCTGTTTGCCGACGGATCCACAATGCAGTTCGCCAACGGCGAAGTGAATGGGAAGCGTTAACACTTGACGCCCTGTGTGAATGAGGCATTAATGTAATGTAAGAGTTGATGTAAGTCTATGTAATGTGCAAAAACACTAAACCTCACTCTGGTCAACATTGGATGTGTACTTGTGAAAACTGAAACTAAATATATATAAAAACACAGAGAAACACAGCAAAAATGCTTTCCTTATTTCAATTTTTTGTCTTGGTTTTAGTACAAATATTCAAATCAAGAAGCATTTTCTAGATTAGCAAAAAAGTTTTTGTTTAAAGAAATAATATGCTAAAATAGTGTTTTATGTTAAAACTAGTAAAATAATTTGCCAACGT
Associated Phenotype:
Not determined