Busch Lab

ZMP

tsc1b

Ensembl ID:
ENSDARG00000057918
ZFIN ID:
ZDB-GENE-030131-3404
Description:
tuberous sclerosis 1b (tsc1b), non-coding RNA [Source:RefSeq DNA;Acc:NR_023332]
Human Orthologue:
TSC1
Human Description:
tuberous sclerosis 1 [Source:HGNC Symbol;Acc:12362]
Mouse Orthologue:
Tsc1
Mouse Description:
tuberous sclerosis 1 Gene [Source:MGI Symbol;Acc:MGI:1929183]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa43613 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa37267 Nonsense Mutation detected in F1 DNA Not yet available
sa916 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa43613
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080667 Essential Splice Site 171 1228 4 21
ENSDART00000145057 Essential Splice Site 171 1228 5 22
Genomic Location (Zv9):
Chromosome 21 (position 15825490)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 17277269
GRCz11 21 17313905
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTTTGATATCTTTGGACGTCTGGCGTCTTGGAACCTAAGAAACCCAGG[T/A]ATGAATAAATTACTGACTCTGAAGCTTCTGCATCAGTTTAGTCTTCAAGT
Long Flanking Sequence:
AATAAAATTAAAGTGAAATATCCACAGTTTTAGAGAAGCCTATATTAAACTGTTTTCACTATTAATGACACATTTCAATAAGCATGAAATGCTTTTGCAATGTATTCACGGCAAAAGTATCTCCAACAGGATCTGGTGAAACAACAGTATCTCCAGCAGAAACGATATGCAAAGATGCTGTTTTAAATTGTAAAGAAATCTGTGTTTCTGAAACTATGAAGACAGCAGAAGTCAATGACTCACTTGAATTATTTAGCTTGACATACTACCTGCTTACTGATTTTATCCAAGGTTATACTTATACTGGTTCATGCCTAATTGTAACATACACGTATGATTTTTGATGTGTTACAGACAGACACAGATGTTGTGGTTCTGATAACTGGAGTCCTGGTGCTCATCACACTTTTACCCATGATTCCTCAAGCTGGCAAGCAACATCTCTATGAGTTTTTTGATATCTTTGGACGTCTGGCGTCTTGGAACCTAAGAAACCCAGG[T/A]ATGAATAAATTACTGACTCTGAAGCTTCTGCATCAGTTTAGTCTTCAAGTCAAATCAGAAAAGTAAGTATGAGGCCTCTTAATGTTTAGAGTAGATGTTAATAAGCTGTATGATCTCTGCTCACAGGACATGTACCAGAGGTTTATCTCATCCATCTGCACGCAAGCGTTTATTCACTTTTCCACCGGCTGTATGGGATGTACCCCTGCAATTTTGTTTCATACCTTCGCTCCCATTACAGTATGAAGGAGAACATGGATACTTTTGAGGAGGTGGTCAAGGTGAGCTGGCAGTCACGGTTGCATTTGCAGGAGGTTTTTCAAATAAATGAGATTTAATACTTCAGTTACTTTATTTTAAGGTATTTATTTTAAACAGTGCTTTATTTTATATTTCACCATTGTTGCTTATCTTGTTGTTGTTTTGCCTAAATACCTGGATGATTTTTATTTCTTGTTGCTTTTACTGCTCAAAAACAATGTATTGTGTGTGTATATCGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37267
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080667 Nonsense 208 1228 5 21
ENSDART00000145057 Nonsense 208 1228 6 22
Genomic Location (Zv9):
Chromosome 21 (position 15825729)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 17277508
GRCz11 21 17314144
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGTATGGGATGTACCCCTGCAATTTTGTTTCATACCTTCGCTCCCATTA[C/A]AGTATGAAGGAGAACATGGATACTTTTGAGGAGGTGGTCAAGGTGAGCTG
Long Flanking Sequence:
TCACTTGAATTATTTAGCTTGACATACTACCTGCTTACTGATTTTATCCAAGGTTATACTTATACTGGTTCATGCCTAATTGTAACATACACGTATGATTTTTGATGTGTTACAGACAGACACAGATGTTGTGGTTCTGATAACTGGAGTCCTGGTGCTCATCACACTTTTACCCATGATTCCTCAAGCTGGCAAGCAACATCTCTATGAGTTTTTTGATATCTTTGGACGTCTGGCGTCTTGGAACCTAAGAAACCCAGGTATGAATAAATTACTGACTCTGAAGCTTCTGCATCAGTTTAGTCTTCAAGTCAAATCAGAAAAGTAAGTATGAGGCCTCTTAATGTTTAGAGTAGATGTTAATAAGCTGTATGATCTCTGCTCACAGGACATGTACCAGAGGTTTATCTCATCCATCTGCACGCAAGCGTTTATTCACTTTTCCACCGGCTGTATGGGATGTACCCCTGCAATTTTGTTTCATACCTTCGCTCCCATTA[C/A]AGTATGAAGGAGAACATGGATACTTTTGAGGAGGTGGTCAAGGTGAGCTGGCAGTCACGGTTGCATTTGCAGGAGGTTTTTCAAATAAATGAGATTTAATACTTCAGTTACTTTATTTTAAGGTATTTATTTTAAACAGTGCTTTATTTTATATTTCACCATTGTTGCTTATCTTGTTGTTGTTTTGCCTAAATACCTGGATGATTTTTATTTCTTGTTGCTTTTACTGCTCAAAAACAATGTATTGTGTGTGTATATCGTACCTACAGGGCTTGACATTAACACCCTCTAAATGTAGGTAGATTTCACCTGTGGCTGCTTAGACAGACAACCCCACCAGTCACTTTAAATAATTTTTCAATTGCCAGTGTTGCCATGTCACTAAAAATTAGAATTTTATTTTAATCGTTTGTCAATATGCGTGCAAATGTTATCTTTGAATCGTGAAGCAGCACGAGCAAAAGAAAGCAGGTGAATACCAAATGAGAGGATGATCAGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa916
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080667 Essential Splice Site 402 1228 10 21
ENSDART00000145057 Essential Splice Site 402 1228 11 22
Genomic Location (Zv9):
Chromosome 21 (position 15834198)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 17285977
GRCz11 21 17322613
KASP Assay ID:
554-0822.1 (used for ordering genotyping assays)
KASP Sequence:
CATTTCATTAAGCTTTAGTGTGAATTGGGTGTTTTGCTGGTTCTCATGCA[G/A]CAGGTGGAAAAGGCACCCCGTCCTCCAKCACGCCTGCAGCTGCAACACCT
Long Flanking Sequence:
TAGTATTAATTAAAAAAAATATCTTATTCACCAAAAAGTGTGGTATTATAATCTCTGCAACAGTATTGCATAAAACCTCTGCTAGACAGTTTGTGGAACGTGTAAACCAAACAGTCCATAAAGCATAAATATAGTAGATGCCATCTGATAATCACTAGATGAGTTTGTGTAAGCCGTCAAGGGACTGATTTTATCTGTGCTTGTGTTTATTTTTAGAACTCCAGCTGTGAATTTAATGCCACATATGGGGTTAAGGATTCTCTCTGGAGCCCCTCCTCCCAGTGTGGGATGGCCACTCCCCCTTCCTCCCGTGGGATGTCACCAAACCCGGAACTGTCCCAGAGTGCCTCTCACCTACCGAGCCGCCTCTACAGCACACCTGGTGACTATACTGTCTACGCTTGTTCACAATGTTGATATTTATCATGCTGGCACGTGTGTCTGGCTCTCCATTTCATTAAGCTTTAGTGTGAATTGGGTGTTTTGCTGGTTCTCATGCA[G/A]CAGGTGGAAAAGGCACCCCGTCCTCCAGCACGCCTGCAGCTGCAACACCTCCTCCTAGTCTATCAGATGAGTATCCCCCTGTATCGACGCCACGCAGCACCGCCAGCCCACCATGCAAGGTACTCTGTTCATTACAAATCCTTTACTTGTTCCTAAAAAAGTGTCACTTACTTCTGGAGAATGGACCCTTTGCACACGTTTAACTGTGATCATAATCTTAAATCCTTGAAAGTTTTTCATATTTAGAATTTTTTTTAAACGTATGAATATTTATATGTATTTATGAATGTATTGAATCATCTTTGCGTCTAATAAAAAAAAAACAAATTACTGTTTATGTGAGGTGTTTCTCAGGCAGTGTCTATGGGGCTGAGAGTAAATTTGACGTTATTCTCTCCTCTGGCTGCCGTCATCAATCTCACACAGTTTTTTTTCTTTTTCTAAACATCTTGATAACACCATCATGGCGTTTTTCTTGTATTATTTCAGCAAATAGGGTT
Associated Phenotype:
Not determined