Busch Lab

ZMP

ENSDARG00000088261

Ensembl ID:
ENSDARG00000088261
Human Orthologue:
ATXN1
Human Description:
ataxin 1 [Source:HGNC Symbol;Acc:10548]
Mouse Orthologue:
Atxn1
Mouse Description:
ataxin 1 Gene [Source:MGI Symbol;Acc:MGI:104783]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa37583 Nonsense Mutation detected in F1 DNA Not yet available
sa15991 Nonsense Available for shipment Available now
sa24233 Nonsense Available for shipment Available now
sa37582 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa37583
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
ENSDART00000129275 Nonsense 138 546 1 2
Genomic Location (Zv9):
Chromosome 23 (position 676993)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 647887
GRCz11 23 660680
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACATTAACATGCAGCCGCTCCTCTCCGTGCCCACATTCAAGAGTGTCTA[C/A]AGTGGGGATTCCAGGGAAATGTGGTCCTGTGGCCTCAGTCGGCCAGACTA
Long Flanking Sequence:
CTGATCAGAACTCATCTCTCTCCAAGCCCTTTGCTCTCCCCAGCCCATGTAACCTAGTGTGGCCTAGGAGGCCCGTGGGATTGTCCCATGAATCCAAGCCCAGACCGCAGCAAGGAATGTCTCCCCCCAAAAAAGAGGGAGTCCCGCCAGGGCTCTACGGATCAGCCAGCCCCAGAGGATGACTTCAAACCTCCTGCACCTTTCCGGAGCCGGAGGCCACATCAGCCTACAGAGGGTCCCAGAGAGGGTGGGGATCTGCTGCCACCTGTCCCGCTGCCGCTACCCTGGCCGGTGTCCTACACCCCCTCTATACATCCCCACACATACCTGCCTCTACAGCTGGGGGAGCGGCGCGGGTCCTGGAGAGAGGCGCTGTGTGGACGGGGTGTGGATGGAGGACTGGAGCAGAGTGTTCCTCAGCACTCTCGCTGGCTCAGCAGCGACATCCCTCACATTAACATGCAGCCGCTCCTCTCCGTGCCCACATTCAAGAGTGTCTA[C/A]AGTGGGGATTCCAGGGAAATGTGGTCCTGTGGCCTCAGTCGGCCAGACTACAGCTCATCTCTGTTCTCCCCCCATGTCTTCCCACAGCCTGCCGTTTATCCGCCCGACAGCCTCCCCGACAGCAGACTCAGGTACCAGAGTAGGCGGCACAACGGCATCGATGGCCAAGACTGCAAGTCTGGGTTCAGCAGAAGGGTGCCCTCCTGCAACGACTATGGGAATGACAGCGTCAGCAGGTTAGATGCTCCACATGCCAATGGCAGAAGAAGACAGGAGAACACAAGCAGACAGACCCCTGAGAAGCGCCTTCCGCCACAAGTGAGTACAAGTGCACATTCCTCACCGTGGGACAGGGACCCTCGGGGAACACCCAAAGCTTCAATGCCCCCCTCACCTGACACAAAGGCAGGGAAGGCCATCACTTCTCAGGACCATTTTGGTGGTAGTGCCTCTCCGGCCGGAGCTCAGATCTACTATACTCTGGGGTCTCTTTGTCCTTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15991
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000129275 Nonsense 167 546 1 2
Genomic Location (Zv9):
Chromosome 23 (position 676908)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 647802
GRCz11 23 660595
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCAGTCGGCCAGACTACAGCTCATCTCTGTTCTCCCCCCATGTCTTCCCA[C/T]AGCCTGCCGTTTATCYKCCCGACAGCSTCMCCGACAGCAGACTCAGGTRC
Long Flanking Sequence:
CCATGAATCCAAGCCCAGACCGCAGCAAGGAATGTCTCCCCCCAAAAAAGAGGGAGTCCCGCCAGGGCTCTACGGATCAGCCAGCCCCAGAGGATGACTTCAAACCTCCTGCACCTTTCCGGAGCCGGAGGCCACATCAGCCTACAGAGGGTCCCAGAGAGGGTGGGGATCTGCTGCCACCTGTCCCGCTGCCGCTACCCTGGCCGGTGTCCTACACCCCCTCTATACATCCCCACACATACCTGCCTCTACAGCTGGGGGAGCGGCGCGGGTCCTGGAGAGAGGCGCTGTGTGGACGGGGTGTGGATGGAGGACTGGAGCAGAGTGTTCCTCAGCACTCTCGCTGGCTCAGCAGCGACATCCCTCACATTAACATGCAGCCGCTCCTCTCCGTGCCCACATTCAAGAGTGTCTACAGTGGGGATTCCAGGGAAATGTGGTCCTGTGGCCTCAGTCGGCCAGACTACAGCTCATCTCTGTTCTCCCCCCATGTCTTCCCA[C/T]AGCCTGCCGTTTATCCGCCCGACAGCCTCCCCGACAGCAGACTCAGGTACCAGAGTAGGCGGCACAACGGCATCGATGGCCAAGACTGCAAGTCTGGGTTCAGCAGAAGGGTGCCCTCCTGCAACGACTATGGGAATGACAGCGTCAGCAGGTTAGATGCTCCACATGCCAATGGCAGAAGAAGACAGGAGAACACAAGCAGACAGACCCCTGAGAAGCGCCTTCCGCCACAAGTGAGTACAAGTGCACATTCCTCACCGTGGGACAGGGACCCTCGGGGAACACCCAAAGCTTCAATGCCCCCCTCACCTGACACAAAGGCAGGGAAGGCCATCACTTCTCAGGACCATTTTGGTGGTAGTGCCTCTCCGGCCGGAGCTCAGATCTACTATACTCTGGGGTCTCTTTGTCCTTCTGCTCAGCAGAACCCTCAAGTGTTTCCACAGCCGAGATCTCCCCTGTCCTGCTCCGCAAGGAGCTCCCAGAACCAACACAACAGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24233
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000129275 Nonsense 340 546 1 2
Genomic Location (Zv9):
Chromosome 23 (position 676387)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 647281
GRCz11 23 660074
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAAGGAGCTCCCAGAACCAACACAACAGCCATGGTGTAGAGACAGACTG[G/A]AGTTCTCCAGCAGGACCCTGCCGCCCTCCCCTTGCTGTGCTCATGGGTCC
Long Flanking Sequence:
GACAGCCTCCCCGACAGCAGACTCAGGTACCAGAGTAGGCGGCACAACGGCATCGATGGCCAAGACTGCAAGTCTGGGTTCAGCAGAAGGGTGCCCTCCTGCAACGACTATGGGAATGACAGCGTCAGCAGGTTAGATGCTCCACATGCCAATGGCAGAAGAAGACAGGAGAACACAAGCAGACAGACCCCTGAGAAGCGCCTTCCGCCACAAGTGAGTACAAGTGCACATTCCTCACCGTGGGACAGGGACCCTCGGGGAACACCCAAAGCTTCAATGCCCCCCTCACCTGACACAAAGGCAGGGAAGGCCATCACTTCTCAGGACCATTTTGGTGGTAGTGCCTCTCCGGCCGGAGCTCAGATCTACTATACTCTGGGGTCTCTTTGTCCTTCTGCTCAGCAGAACCCTCAAGTGTTTCCACAGCCGAGATCTCCCCTGTCCTGCTCCGCAAGGAGCTCCCAGAACCAACACAACAGCCATGGTGTAGAGACAGACTG[G/A]AGTTCTCCAGCAGGACCCTGCCGCCCTCCCCTTGCTGTGCTCATGGGTCCAGACCCTCCACCTTCTGCAGTCCTACCTCATTTTGCCAAAGGTTCCCTGATTGAACTAGCTGGTGGCCATCTGAAAAGGGTGGAGGAGCTGAAGACAGAAGACTTTTTGCGCAGTGCTGACACCTTGCCGGAGTTTCACCTGAGCTCCTGCACTATTCTGTTGATCTCACCAGGACCCACTTACGGATTCAACCACTTGCAGGTCTTGCTCACAGACCGAAACACTCAGGTTAGTCCAGCTCAACACACATGCATACACAAATGAAACTACAGTCAACCCTGGAATGATTCACACACTTGCGGCATGATTCCAGACTTGACTGTATAAGCACAGCTCAAGTGAAGACACATTTTACTAGTGATGTCCACAGTCTACCAGAATAATGAGGAAAAATATACACACAAACACGGGTAACCATGAAAATGAACTTGAAACCTCTTCCTGATGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37582
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000129275 Essential Splice Site 433 546 1 2
Genomic Location (Zv9):
Chromosome 23 (position 676106)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 647000
GRCz11 23 659793
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTACGGATTCAACCACTTGCAGGTCTTGCTCACAGACCGAAACACTCAGG[T/C]TAGTCCAGCTCAACACACATGCATACACAAATGAAACTACAGTCAACCCT
Long Flanking Sequence:
CCCCTCACCTGACACAAAGGCAGGGAAGGCCATCACTTCTCAGGACCATTTTGGTGGTAGTGCCTCTCCGGCCGGAGCTCAGATCTACTATACTCTGGGGTCTCTTTGTCCTTCTGCTCAGCAGAACCCTCAAGTGTTTCCACAGCCGAGATCTCCCCTGTCCTGCTCCGCAAGGAGCTCCCAGAACCAACACAACAGCCATGGTGTAGAGACAGACTGGAGTTCTCCAGCAGGACCCTGCCGCCCTCCCCTTGCTGTGCTCATGGGTCCAGACCCTCCACCTTCTGCAGTCCTACCTCATTTTGCCAAAGGTTCCCTGATTGAACTAGCTGGTGGCCATCTGAAAAGGGTGGAGGAGCTGAAGACAGAAGACTTTTTGCGCAGTGCTGACACCTTGCCGGAGTTTCACCTGAGCTCCTGCACTATTCTGTTGATCTCACCAGGACCCACTTACGGATTCAACCACTTGCAGGTCTTGCTCACAGACCGAAACACTCAGG[T/C]TAGTCCAGCTCAACACACATGCATACACAAATGAAACTACAGTCAACCCTGGAATGATTCACACACTTGCGGCATGATTCCAGACTTGACTGTATAAGCACAGCTCAAGTGAAGACACATTTTACTAGTGATGTCCACAGTCTACCAGAATAATGAGGAAAAATATACACACAAACACGGGTAACCATGAAAATGAACTTGAAACCTCTTCCTGATGCAACGACTGAACCAGCAGTCACGTGCACATAGAGATCATGAATTTGTTGATGCTGATATAAATCTCTGAGATAAAAGTGAATGTTCTCTGAAAAGTTCTGGCTGAGTTCACCTAAGGAAAAAAAACATTATTGAGAAGAGAGTCTCTAATAAAGTAGTCAGCTTTGTACATTGAGTAAATGATTGTCCAGTAATGTGGAAGCTCAGTGTTCAAATTCAGAGAGTTTAAATGAAAACAGAAGCAGTGATAATGAAGTGAGGATTGACCAGTAGTGGAAATTTGC
Associated Phenotype:
Not determined