Busch Lab

ZMP

si:dkey-29b22.6

Ensembl ID:
ENSDARG00000007129
ZFIN ID:
ZDB-GENE-061009-43
Description:
Transporter [Source:UniProtKB/TrEMBL;Acc:A3QK28]
Human Orthologues:
SLC6A15, SLC6A17
Human Descriptions:
solute carrier family 6 (neutral amino acid transporter), member 15 [Source:HGNC Symbol;Acc:13621]
solute carrier family 6, member 17 [Source:HGNC Symbol;Acc:31399]
Mouse Orthologues:
Slc6a15, Slc6a17
Mouse Descriptions:
solute carrier family 6 (neurotransmitter transporter), member 15 Gene [Source:MGI Symbol;Acc:MGI:21
solute carrier family 6 (neurotransmitter transporter), member 17 Gene [Source:MGI Symbol;Acc:MGI:24

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa31315 Essential Splice Site Available for shipment Available now
sa18748 Nonsense Mutation detected in F1 DNA Not yet available
sa33124 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa31315
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080771 Essential Splice Site 130 693 None 11
ENSDART00000132869 Essential Splice Site 133 587 None 10

The following transcripts of ENSDARG00000007129 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 3 (position 16189489)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 16419708
GRCz11 3 16569508
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAAACACATATCACCTCGTCTCGCCGGCATCGGTTACTCCAGCTGCATGG[T/C]AAAACAAACATGTTCATAAACTCTACATGAGTATAACATATGGTTGAAGA
Long Flanking Sequence:
ATATTCCTAGGAAATAAAGAACGATGACCTTTTTTAATTTTATATTTGGTTGAGCAAACTTAGCCATTTGGAGCACTTGCAGATTTGCTCCTGAAGGGCAGATTGTAGATGTTCTTTATTTGTTTACAGCACAAGTTAAAGAAAAAAATAAATGAAGAAAGAAAAAGGTTGGAATATGCATTTTTTTAAATGACAGAAGACATAGATTCTTGTGTAAATGTTGTGTGAACAATAATGGTTCCTTATTATTTAATTGGTGATTCATCTGAAATGTTTTATTTTAATGTTGTGTGTAACTTAATGGTTCATAAAAGCTTTTCTAAACCTCTGTCTCGCTCCAGGTGCATTTATGCTACTATATGTGATGCTGCTGTTGATAATCGGGGTACCTCTGTTCTTCATGGAGCTGGCAGCTGGGCAGAGCATCCGGCAGGGCAGCATCGGGGTCTGGAAACACATATCACCTCGTCTCGCCGGCATCGGTTACTCCAGCTGCATGG[T/C]AAAACAAACATGTTCATAAACTCTACATGAGTATAACATATGGTTGAAGACATAAGTATTAGCCCTCCTGTGCAATTTTCAATTTTCAATGTTCACATATTTCCCAAGTGATGCTGAAATGGAGTTGTCAACACATTTTAAACACGGTAGTTTTATTAACTAATTTATAATAACTGTTTTTTTTTTGTCTTTGCCATGATGAGAGTAGATAATGTTTTACTAGATGTTTTTCAAGATACAAGTGTTCAGCCTAAAATGCAATTTAAAGGCTTAACTAGTTTAATTAGGTTAACTAGGCAAGTCATTGGACATCATTGATTTGTTCTATAGCCATTCATAAAATAAAAATGTCTAAAGAGGGCTAACAAATTGCACTTTTTAAAGGGTTTTAAAAATGTTTTTTAATATATATCTTTTTCATTCCTGACAAACCAAAATAAAAGACTTTCTTCAGAAGAAAAACACAATAGGACATGTGTGAAAAAATGTCCTTGCTCCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18748
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080771 Nonsense 524 693 9 11
ENSDART00000132869 Nonsense 527 587 9 10

The following transcripts of ENSDARG00000007129 do not overlap with this mutation:

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 3 (position 16208562)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 16438781
GRCz11 3 16588581
KASP Assay ID:
2259-3209.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACGCTGCCACTGATCATTGTTGTCATTTTTGAGACCGTCAGCGTGGCGT[G/A]GATTTACGGTGCAGATCGGTGAGGAATCTTTGTTTTATATGCTGATTATA
Long Flanking Sequence:
TGGCCTTTAGTGCATATTTTGTATCTTATATTATTCCTACTTGTTCAAGTCCATCCATCCTGTTTGCCTTTCTCTCAGGGAGTGGAGGGAACGGGTTTGGCGTTTATAGCGTTTACTGAAGCGATGGCTTTGTTTCCTGCGAGTCCATTTTGGTCGACGCTGTTCTTCCTCATGCTGCTGAATTTGGGCCTGTCCACCATGTTTGGCACCATGCAGGGTATTCTGACCCCGCTCATGGACAACTTCCGAGTACTGGGACGCCACAAGACCATGCTGACAGGTACACACAAATAGACACGTAAATACTAAAGGATTTTGAGTTCTAGCTCTAAATGTCACATCATGTGTTTAATCTGCAGTGTGTAGCTGTATTCTGGGCTTCTTCATTGGTCTGCTCTTCACTCAGAGGAGTGGCAACTACTTTGTGACCATGTTCGATGATTATTCTGCCACGCTGCCACTGATCATTGTTGTCATTTTTGAGACCGTCAGCGTGGCGT[G/A]GATTTACGGTGCAGATCGGTGAGGAATCTTTGTTTTATATGCTGATTATACATGAGTTAAAGTGATGGTTCACAAAAATGAAAATCTGTCATCATTTACTCACCCTCTACTTGTTAGAAACCTGTGTTTCTTTCTTCTGTTGAACATCTAATAGTATAAGGGTTTTTACTCTTTCATGAACAGCAGATTCAAGAACTTTTTAAAGCCCCATTCATTTCAAATCAAGCACCTTTCTTAATTCCCCGGCATATGTAGTATCATGAAAGTGCTTCCTGTATTTAACGTTTAATTTACACGTAATATTTTTAAAACAGTTTTTGAACCATTTTGAAAGTTCTTTAATAACTTTAATTAAATGTGTTGAATTTAATACTGGTAATATGCAATGTGGTTTCTGAAATATTGATAAGTATGCATTATGTCATAGTTCTTGTAAAAAAATTAAATGTAAGATTTTTAAATTAAGAAGTATTTTCAATAGAGCCGGATCAGTTTCAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33124
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080771 Nonsense 682 693 11 11
ENSDART00000132869 None None 587 None 10

The following transcripts of ENSDARG00000007129 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 3 (position 16211591)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 16441810
GRCz11 3 16591610
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTCCGCCTTCCTGACACTGGCTCCCGAACACTACAGGCTGCTCTCGCAA[C/T]AGGAGGATGGAGAGGAAGAGGAAGACACTGGGGTTTAGGGAAATACTGGA
Long Flanking Sequence:
AAGGCTTATTTAACTAGGTTAATCAAGTTAACTAGGCAAGTTAATATATAAACACCTACACACACTTATGAAGCCCAAAATGTTGCTAAAATATACATACATTTATTAAAATAAAATGTTTGGTTTTGATCAGAACCCCACTGACTTTCACTGTATTTATAAAAGCATATTTCCACAGTATTTCGTAATAGCATTTCTCACTCTGTCAGGGCTCTGAAGCCAGTCTGGAGTATCCCGGATGGGCTCTGGTGGTGCTCTCCATGCTGATCATCGTGGCATCTCTCCCAGTGCCCATTGGCTACCTTCTGTCCTTCCTCCGAGGCGGACTGAACCTTCCAGTGGAGGAGGGAGAGATCCAGCCTCCGCGAGAACTATACTCCAAATGCAGTTCAGCCGAGCCGGAGCCAAACCACCATCACTGCACGATGGACCAAGAGCGAAATCGGCCCCACTCCGCCTTCCTGACACTGGCTCCCGAACACTACAGGCTGCTCTCGCAA[C/T]AGGAGGATGGAGAGGAAGAGGAAGACACTGGGGTTTAGGGAAATACTGGAGATTCAATATTTATTGATCAGCATTTGGAGCTGTTTGATGGAGAGGAGGGAGGCGGACTCCGTTTATTCTCATTATGCTAATGAACATTCGTGAAAACAGGTGTCAACTGTGTGGCCCTATTTAAGAGGGACACTTTGTGCAAGCACAACACTTATTAGCCCCTTTCACACAGTGAACTGCAATCAAATGACCTGATTTTAATTTTTTTTTTGGTCATTTGGTTTTAAAAACAGCAGAATTCTGGAAAATTATTGGTAATGTGATCATTTTTCATTCCAGAAAATTGGTGGAAAACATTTTCCGGTATTTATTTTATTATTATATTTTCAAGCGTCTGTTTACACATGATTTCTTGATGTTAATTTACCAATAATTTTACAGTATGTGTGAAAGGAGCTAATTACTTTGTCATTCGTGTGTTTTAAGTAAAGCCCTACACCAAAAGTGCC
Associated Phenotype:
Not determined