Busch Lab

ZMP

tsc1a

Ensembl ID:
ENSDARG00000026048
ZFIN ID:
ZDB-GENE-030131-9111
Description:
hamartin [Source:RefSeq peptide;Acc:NP_956346]
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 5 alleles of this gene:

Allele Name Consequence Status Availability
sa31448 Essential Splice Site Available for shipment Available now
sa12047 Essential Splice Site Available for shipment Available now
sa33623 Nonsense Mutation detected in F1 DNA Not yet available
sa20445 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa31448
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
ENSDART00000035400 Essential Splice Site None 1128 2 22
Genomic Location (Zv9):
Chromosome 5 (position 31292203)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 29053560
GRCz11 5 29653713
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTTTGTTTTTAGTCACATTAATGTTTTTATTTTTTATTTTGGGTCACCA[G/A]TTCATACATAGGCACCCCATGCTGACACCACAGGACATCGATTTCTGCTG
Long Flanking Sequence:
AAAAAATTGCTTTTGTTTTGCTGTTCGGGTATCGTGTGGTTATTCCATGTTGCTGAATGAATATCCTGTTCGTTGTATTGCATGATAGCATGATATTTATGTGGTAACTTACTCCATAAATCACCACAGTATATATCCAGACAGGAAACACGGTATTGTACATAGTAGTATATGTTCAAAAGTCCTGCTATTGTCTGTGAATATGCTAAAATGGTGTTGGTATTGAAAATTAGAGAACATTTTCTAGAATCGTCTTGCTAGTGCATTGGTCCAAAACATGCTATTGCTGTTGCATACATCATTAAAAACTCTGTTTCCATTATTTATATATAATATCAGTATGTATTACTAGCACACTTCAGCATTTTCTTGTTGTATATGTTGTAAACTGAATATTCCTACTGTATATGCCGTGCTATATTTAAAGACGGGCAGTGTGTATTAGTTGTAAGTTTGTTTTTAGTCACATTAATGTTTTTATTTTTTATTTTGGGTCACCA[G/A]TTCATACATAGGCACCCCATGCTGACACCACAGGACATCGATTTCTGCTGTGACAAAGGCATCAGTCCTGCCCACTGTCCTGCACAACTATGGCCAAAGAGCAGCCAAGTGTGTTTGACCTCATCCCTCTTCTGGGGTCCACTGACCTACATGAGCTGGAACAGGTCAAAACCTTGCTGCAGGAAACTCTCAGTGCAGGTTGGTCTGTTCTTGTGTTTACAGAATACCTTGAGTGCATGGGTCAAATAGAAATTTGCAACACTGTTCTTGTTCAAACTATTATTTTTAATACTTAAATGATGGTAGGTTTGTAAGTTGTTGTCATCATCAGTGGATGCATTTAGGGTGTATTTAGAGATTAGATTAAAACAAGCCATGCTTCGATGTCACTTAATGTGGTTCATTTGAATTTGTGTGAACACTACCATTATACCGTGATGTGTGCAACAGACATCAGTCCACCTCTGAGTTTTACATCTAAACATCTAAAGATAATTAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12047
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
ENSDART00000035400 Essential Splice Site 171 1128 5 22
Genomic Location (Zv9):
Chromosome 5 (position 31295825)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 29057182
GRCz11 5 29657335
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TACTTTGATATCTTTGGACGTCTTGYTGCCTGGAACCAACGTCATCCAGG[T/C]ATAAACATTACAAATCATTTTTTATTTGGCTTCAGTTTTTGGATAGGTTT
Long Flanking Sequence:
ACTTAATGTGGCATCTCATAGCAAACACTGAGAGTTGTATGTTTGCTACTTTTCTGTCAAAAATCTGATTTTTGTTCAGGACTAGGATCAATTTAAAGTCTATTTAAGTCCCCAACCCTAAGTTTGAGAAATTCATATAATATAATATTAAGCATTTAAATTAGTTTTAAAGCATACAATATTGAGATAATATCACATTGAGTTCTGTATCGAGATGTGTATAGAATTGTGACTTGAGTGTATCTGTACATGCCTAATAAGTAAATGTAAAAATAGCAAATTTAAAATCTGACTTCAAACTTTTGAATGGTGGCGGTAGTCATTCACATTTTTATGTTTAATTTCTGCTTCCAGACTGACTCAGATGTAGTAGTTCTCATAACTGGTGTGCTGGTGCTGATCACTCTAATGCCCATGATTCCTCAAACCAACAAACAACTTCTTTGCGACTACTTTGATATCTTTGGACGTCTTGCTGCCTGGAACCAACGTCATCCAGG[T/C]ATAAACATTACAAATCATTTTTTATTTGGCTTCAGTTTTTGGATAGGTTTTGTTTCCAGATGGCTTGATCTCACAGTACTCTTTCTACGATTGCGTCCTGTAGGCCATGCTCAGGGAGTGTTTGCAGTCCATCTACATGCCAGCGTGTACTCTCTTTTCCATCGTTTATATGGCATGTATCCTTGTAATTTCGTTTCGTACCTGCGTGCCCATTACAGTATGAAGGAAAATGTTGACACGTTCGAGGAAGTGGTGAAGGTGAGGTCTGATCTCTTTCACCACGCAATTAATAAAATATTGTTAGCATGTTTAACACTACAGTTTCATTCTGCTTTTATAACAGCCCATGTTGGAACATGTTCGGATACATCCTGAGCTCATCACTGGAACCAAAGACTACGAGGTTGATCCAATTAGGTAAAATGAAATCATTGCTCACACTCATTTTTTATTTTGTGTAGACATTTTGTGTTCTAATTACTCATTTTCATTCTGTGTAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33623
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000035400 Nonsense 683 1128 16 22
Genomic Location (Zv9):
Chromosome 5 (position 31301381)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 29062738
GRCz11 5 29662891
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATTGCTGCTGCTGCATAACCAGTTGCTTTATGAGAGACATAAGAGAGAG[C/T]AACATGCGCTTCGTAACCGTCGTCTGTTTGGCCGCATCGTCAACACTACT
Long Flanking Sequence:
ACCCACACTTGAAAGGTAAACAGCATAGCAATAAAGGAAAAGGTATTTAGTCATTTTACTAATTAATTCTGTGCTCTAGACAATTGTGCCCTCCAACTGTCCTTCTCCAACATTTCCTGTTTTTACATTTTCTTGTTGCTTTCCTTTATTTACTTTTGTCTTTCAAATTCCTTTTCTTGTCTTGTGCAGTTCACTACCAAATCCTCAGAGTAAGCTTTGTGTTTGTCCTGATTAGCTATAATTAAAATCCCAGTTGAAATGGAGCTGCATGATATATGGAAATAAAAATCAGTACTGTGATTGTAAACATGAAAATCTGCTTTTTAATTAAATAATATGTGAAGCTGTTTTGTTTGTAAAGCACAGGAACTTTCAATTGACCGCAACATATTATTTTTTTTACAGGTCTTGTGCCTGCAGTGTCGGATGAGCTAGACATGTTACGCAGTCAATTGCTGCTGCTGCATAACCAGTTGCTTTATGAGAGACATAAGAGAGAG[C/T]AACATGCGCTTCGTAACCGTCGTCTGTTTGGCCGCATCGTCAACACTACTGCACTGGAAGAGCAAAATAACTCCATGGTAATGAATAAAACTAGAGGTATTACCAAAGACTAAAGAATACACAAGATGTGTCTCTTTCATACTTTTGAATGGGGAAAAGTGCCACTGTCAATATGGTGAAATAAAGCCCTGCTTTCTAGTTTAGGAGCCAATCAATGATAGCTATATGGTAAATAAAGCCCGTCTTCTAGTACCGTAGCCAAACAGCAATCACTATAGAATGATAATTTTCCAGGGAAGGATTAACATCATTAATTATGTTTATTAACTTGAGTAAATGTGTAAATCTGAATTTATTCAGTTTTTATTCATTAATTTATTACTTTTTATTTAATATATTAAGATTTTAGTTATGATACTCCGCTTGATACTCCCAAAATAAATCTGCAAAAATCCGCAGATTTTTACCAAAATTATCTGCAGAAATGGTAAAAAACGTCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20445
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
ENSDART00000035400 Nonsense 1109 1128 22 22
Genomic Location (Zv9):
Chromosome 5 (position 31305700)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 29067057
GRCz11 5 29667210
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGACCAGTTTGACCTGCAGCCAATGGATAGACCCCGGGCATATAATGTT[C/T]AGAGTAGGAGGCATCAGGATCTGCGGATCATGGACTATAATGAGACCCAT
Long Flanking Sequence:
CAAAATGTAAGAAATAAATATGATTGATTTCTGAATCGTGGAATGATTCTATTTCTCTTTTCCATTTCAGGCCAAATGGCAACAGTGCAGGCCCATCTGCTCCATCTCTACCGGCTGACCTGATGAAAAGAGAGGAAGGGGCGCATGTGTGTGTCAATGGTGAAATATCTGCAGCGTCTCCTCAAACACCCACAGCACTCATTAATGGCAGTCAGGAAGAAGATCTTTCCGCCCTTAGTCATTCATTTCCCTCCCTCCCCTGCCAACCCTTTGCAGTTGGCTCTTACCCCAGCACCAGAAGCTTTTTGGGTAAGAAAGCCAGAGAAATGTTCCGCAATAAGAGTGAGAGCCACTATGATGGCGACTCGCCCACCCTCACCTGCCTCTCAAAGGATCTTAAAGTTGAGCCAATCACAGACCCCACAGAGAGTTTGGAGTCCGAGGAAGCTGCTGACCAGTTTGACCTGCAGCCAATGGATAGACCCCGGGCATATAATGTT[C/T]AGAGTAGGAGGCATCAGGATCTGCGGATCATGGACTATAATGAGACCCATCATGTGCATTGATTGTACACTGCTGACATCATCGTCTGCAGATAGAAGAGGATCATTTTGGACCCAGTATTAGTATGCACTACTCTTTTTGTTAGAGTGGTTTGCAACATTTTAGTTCATTTTAAAAGCTCTTGTACTACAAAACGGCCAAAAAAAAAAAACATTTTCGCTTGGCATTTGCCATTTAGTCACCACAGTGGCAAGAGATCATCTTGTCTTCATAAGAAAAAATGGCTTACTTTTCTCCTGTCTAATATGAATTCATTGAAATTCAGTATTTTTTTTTTATAATGGGTATTCAGAGAGCAGTTGTGGTGATTTAACTGCGTGGTGGTTGGATGTTATTTGGGCCTTACTGTACTTTGCAGCAAATGTATTGATTTAATCACTGTATTTGCTCCTGTAATGGTATCGTTCAGTTTCCAGTCCTCCTAAATTTGTCCAAGCAAA
Associated Phenotype:
Not determined