Busch Lab

ZMP

LOC100150452

Ensembl ID:
ENSDARG00000071235
Human Orthologues:
AC133561.1, SLC6A8
Human Description:
solute carrier family 6 (neurotransmitter transporter, creatine), member 8 [Source:HGNC Symbol;Acc:1
Mouse Orthologue:
Slc6a8
Mouse Description:
solute carrier family 6 (neurotransmitter transporter, creatine), member 8 Gene [Source:MGI Symbol;A

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa39396 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa29874 Nonsense Mutation detected in F1 DNA Not yet available
sa24253 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa39396
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092131 Essential Splice Site 142 652 3 14
Genomic Location (Zv9):
Chromosome 23 (position 6920011)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 6874548
GRCz11 23 6808520
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATGAAACAGGGAGGGGTCGCCACATGGAACATTGCGCCTCTTTTCAAAG[G/A]TAAAGTATTCTTTACAGTTAAATGTATTTGAACACACTCAAACTCTTGGC
Long Flanking Sequence:
ATATCGCATTGCTACGAGTGTGATATTGCGTTTATACAACAGTTTGATGTTGAGCAAGCATCTTTTAAACTTTAGATTGTGGGCGAAGTAATACACAGATTTTAATACATTTTAATACATAAAATATTTTAATGCATTGCCATGCATTTTAGCTTACCATAAATGCAGTATTTAGTTCCTTATGTTCTGTGGTTCAAAAAGCACTCTTAAGTAATTGCATTTCATATAAATGTAAACATTTTTCATTTAGGTTTTCCAAAACGTAAAATTGACACTTAAATGTGTTCTTTCTGTAATAAGTGCGCTTGTTCATACAAGTGTTCTCATTTGCCCTATTGAATATTTAGTTTTTTTCATGTGTGTTGCAGGAGTGTTTCTAATCCCCTACATCCTGATGGTGTTTTTTGGTGGTATTCCAGTGTTCTTCCTGGAGATTGCTCTGGGTCAGTTCATGAAACAGGGAGGGGTCGCCACATGGAACATTGCGCCTCTTTTCAAAG[G/A]TAAAGTATTCTTTACAGTTAAATGTATTTGAACACACTCAAACTCTTGGCAGTTACTAGTTAAACAGATCCTGTCAGAGATCATCTTTCAGTTTTATTGCCAAAACAGATTATTGATCCTGACTTTTAATACTGTCAAAGAATGTACTGGATGAGGGTGATTAACAGTTCCCCTAGGATTTTGTGATTTATATATTCTTATTATTGTGGCCTAAAATCCTTGATTTTTGTAACTTTTCCCAGAAATTGCCAAAATGTGGGTCCTTTTCCAACGCAATCTTACGGCAATTCGTAACTTTTTGATTTAGTGGCTAATTTGTATGAATTCGTACAATCAAATTTGTAAAATTTAACACGATTTGCTCATCAGTCAATGACGGTTGGGTTCAGGGGTGGGGTCGGGTACCATGCCTCCTTTTTAAAATCGTACAACTGAACTCATCCAATTCATACAATTAGCCACTAAACTGACAAAACGTAAAATACTTTCTCATGAGATCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa29874
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092131 Nonsense 225 652 4 14
Genomic Location (Zv9):
Chromosome 23 (position 6921239)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 6875776
GRCz11 23 6809748
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAACAACTCCTCCCTCAACATCAGTGCCGGCTGCCTTGAGCCCACGGGTT[T/A]GCGATCATCTGTTATGGAATTCTGGGAGTAAGTGCCTTTAAAATCCTTTT
Long Flanking Sequence:
GCATGAGAGTTGGCAGTTATATAACTATTTTTTTTAACCACACTTCACACTTTTTATTATCCTTCAAGTCATCTTTGGCTGAATGTGTGTTGCGATGTAATTTGATACCTTAAAATCTGTTGGAAATTTCAGAAAAACGCAAGCTTGAATCTTGCGACATTTGTTTGTTTTCCTGTTAATACTGTGATCACAAAAAAAAAAATCACAAAATCCTAGAGGGATTGAATGAAAGGCAGTGTCTTTCTTTCCTCCAGGGCTTGGTCTGGCATCAATGGTGATCGTGTTCTTCTGCAACACCTACTACATCATGGTGCTGGTGTGGGGCTTGTATTTTCTGGCTCACTCCTTCACTTCCTCTCTGCCGTGGGCCACATGTGGCCATGAGTGGAACACGATCAACTGTACCACTAACTTCAGCCGGGTGTGTTTCAATCAGTCTCCTTCCCATCCTAACAACTCCTCCCTCAACATCAGTGCCGGCTGCCTTGAGCCCACGGGTT[T/A]GCGATCATCTGTTATGGAATTCTGGGAGTAAGTGCCTTTAAAATCCTTTTATACCTTGTTAAGCTTCGGTTAGTTTGATGCAACATTTTCACATCAGATAAGCTGTTGAAGTCACCATGAAATTAAAATGTACTGTTCCTATTTTTATGTGTATATAGTAGTTCTTGTTATAAACCATGTGTCTGTGCACTTCATTATTTTGTAAAAATTTATTTGCCCTCATAAACTTTAATCAAATACCATCGCCTTCCTTCCCCCTCTGAAAGACTTCACCTCCTGGTCACATGGAATTCTATTAGGGAAAGTATATTAGTGGACGTCTCGTTTCTGCTGTGAATTTGTATTTTTGGTAATCTTCCTTCATTTTGTTAGCAATTCCTGTCTTTCAACAGTTCAATCAGTTTTCAAAGAACTAAATCATGCACTGACCTAAATTATCTTATGTCAGGAAAATTTCAAGTGGATGTACATCAAGTTAGCAATAAAAAGAACAACCATGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24253
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:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000092131 Essential Splice Site 552 652 12 14
Genomic Location (Zv9):
Chromosome 23 (position 6949165)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 6903702
GRCz11 23 6837674
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCCGTATATGAAGTGGTGCTGGTCCTACATCACGCCGGTAGTGTGTATG[G/T]TGAGGTTTCCATAATAATACTCTAAACACGAGGTTTCATATTAAGTAGCC
Long Flanking Sequence:
CGCAAAAAAGGATTACTAAATCCGAATCAATTTTATCAGCATTGAACCTTTTGAAAAACAAGCCCTAAAGTGTCTCAGCTAGAAAACAAAAACGTTTTCAAACGCCACCAACTGGACATTTATAAAACAGCACCTGGCGTTTTAAAGCTATACATGGCTTAAAATGCTTTGGTGGACATGTGTTAATGTAACATTTATAGCTAGGTATATAGCATATTGTTAGTATTTCCTACGTGCATGAGTTATATTGCAGCCAAGCCTTATAAGGGAGTTCATAACTGACTGAATTGTCAGGAAGGTCTATTTTAATACTAAATTTACTCTTATATTTAAGAAAGTTTCATGAATTAGGCCTTTGTGTTACCAAGTCCTCATCTGCTTCTCTGACTCTGTCTAAAGGTGCTGATCGCTTCATGGATGATGTGGCCTGTATGATCGGCTATCGTCCTCTGCCGTATATGAAGTGGTGCTGGTCCTACATCACGCCGGTAGTGTGTATG[G/T]TGAGGTTTCCATAATAATACTCTAAACACGAGGTTTCATATTAAGTAGCCTAAAGGGTTTTACAGATGTGTTTGTGTGTTCGGCAGGGTGTGTTCTTGTTTCATGTGGTCAACTACAAGAGGTTAGTGTATAATGCGGTGTATGTGTACCCGTGGTGGGGTGAGGCACTGGGCTGGTTTCTCGCTCTCTCATCCATGCTCTGTATTCCTCTCACCGTCCTCTACAAACTGCTGCACTGCAAAGGCTCACTCATGGAGGTAGGACTATCAGTGTGTGTGTGCATTGCTAATTTTCTTGTCACGCAAAAAAAAAAAAAACTTGTGTACATGACACTGATTTGAAAACTAAAAACAGAAAACTTAAGCGATGTGCTTTTATATAATGTAATCATACCAGGGGTCGCATAAAAATCAAAAGGCTGATGGCTTTTTATTAGCTTTTTTATGTAACTATATATTTTTTCTTCTGTAGGTTAATTCTACTAGTTTAATAAAATGAAT
Associated Phenotype:
Not determined