Busch Lab

ZMP

LOC100332642

Ensembl ID:
ENSDARG00000008322
Human Orthologue:
AMBRA1
Human Description:
autophagy/beclin-1 regulator 1 [Source:HGNC Symbol;Acc:25990]
Mouse Orthologue:
Ambra1
Mouse Description:
autophagy/beclin 1 regulator 1 Gene [Source:MGI Symbol;Acc:MGI:2443564]

Alleles

There are 7 alleles of this gene:

Allele Name Consequence Status Availability
sa11767 Essential Splice Site Available for shipment Available now
sa21027 Nonsense Available for shipment Available now
sa10425 Nonsense Available for shipment Available now
sa40965 Nonsense Mutation detected in F1 DNA Not yet available
sa14147 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa11767
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
ENSDART00000098033 Essential Splice Site 64 1194 2 18
Genomic Location (Zv9):
Chromosome 7 (position 40747375)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 39083632
GRCz11 7 39354649
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TACCAGACAGTCCCCGCTCAACCTYTCTGCTAGCCTTTAGTCCGGACAGG[T/C]AAGACCACTTTGATTACACTTTCATACTCAGGCTTGRCCAAAGGAAWCTA
Long Flanking Sequence:
TCATGTCAAGTTTGTTTTTATAGATCACAACTTGCATGGGCATAGTTGTATGCATATTCCCACCTGTTTTGTGTGTATGCCACATTTATAAATGAAACCCTTATCAAAAAGACTTGCTTTCATCACGAACCATAATTTTAACTGTAATTAATTTTACAGATAACTGTTAACATCCAAACCAATGCATGATAAACTGCTTATTAAAAGCTCATGCTGCAGCAATAATGTGTGACACTGAGGCTTTCACATGGTTGTGAAAGTGATTCAAGTGATATAGTTCTCTGTGGTTTGGACTTCCCTATTTTTGCAGAATTAAAATGAATATTGAAACTTTATGGTTAGAGATGAAGCCCTGATAATAGTCATTAACTTGGTTGTGATCAGATTTTATTATAGTATGAATGTGACTGAAGGAAATATTTTTTCTTTTGCTACCACAGAAAGTAGAGTTACCAGACAGTCCCCGCTCAACCTTTCTGCTAGCCTTTAGTCCGGACAGG[T/C]AAGACCACTTTGATTACACTTTCATACTCAGGCTTGACCAAAGGAATCTACAGTATGTAGATTGATTTGATAAAACTCACCCTCTAATTATGCCTTTTTGATCAGGGCTTGTCATCAAGCTAATAAAGTTTTTTTTTTTTTTTTTTGTCATTTGTGTTTTTCTAGGTCTTTAATGGCTTCCACACATGTGAACCATAACATCTACATCACTGAGGTTAAATCAGGAAAGTGTGTTCATTCATTGGTGGGCCATCGCAGGACACCCTGGTGTCTAACTTTTCACCCTATCATCCCTGGGCTTATTGCTTCTGGCTGCCTGGACGGAGAGGTCAGAATCTGGGACCTACATGTAAGTATTGATTTTACTAATATTGAAGGATTGCTGTTAGTTTGTTTTTAATTCTTTCTCTGTAGATATATTACGGCAACTTTTGCACCAAAATTAAGGTCTTTTTTTGTTCCAGGGTGGCAGTGAAAGCTGGCTTACAGAGAGTAACTCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21027
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
ENSDART00000098033 Nonsense 406 1194 6 18
Genomic Location (Zv9):
Chromosome 7 (position 40744987)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 39081244
GRCz11 7 39352261
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGACTGGACAGTCAGTGGACTTAATGGACAAAGCAGTAGTATGACTCCA[C/T]AAAGAACTGGCGCTTCCTCTGTTAGCCTTCTTTCTGTCCTGCGACAGCAA
Long Flanking Sequence:
TGCACAATTTCTTGCACATCCTCACTTCCCGCAACTCTGTTCCTCAGGCTGGAGGTGCCCATTCTGCTTCCACTGATGGGTCCTCCGATTCTTCTGGCCCTTACACTCTTATGTGCGTTCAGCCGCTTGGAATGGTGTGTTTTTGTAGCCGTTGCTCTGCAGCACGAGTTCCATCTCCACCTGATGAGGACCCTTCAGACTCGGCATCCCTGGAGGCACAAGCTCACACCTTTTCTTCTGCACGCACAGAGCCACTGCAGATGTCACGGTTTTCTGTTGAGTCTCGTGCTGCAAATCGCTCCTCTGCATTCAGCAGCGTGTATGGTGGAGGCAGCAACATGCGGAATCATTCTTCCAGCTCTGGCAGGAGGGGAGTGACTGGAATGGCACCTGTCCCGCATTTCCGACAACATCCACCAGGTAGGGAAGGTGGAGGACGTCACCCTGGAGCAGACTGGACAGTCAGTGGACTTAATGGACAAAGCAGTAGTATGACTCCA[C/T]AAAGAACTGGCGCTTCCTCTGTTAGCCTTCTTTCTGTCCTGCGACAGCAAGAGACTTCCTTTCAATCACCTGTTTACACTTCTGCTAGTGATAGATGGGGCAGCACACCGGGAACTAGTTCCAGCAGGCACCGTCCTCCAGAAGAAGAGGGACAGAGCAGCTCCTCTTCCATCCACAGTGTCCTGCGTTGTAACCTTTACCGCTATTTTATGGATTATGAGGGAACGCAGGACACGGTCCAGCCTCTTGATGGCAGCAGACAGGACCAGCAGACTCAGGAAATGCTCAACAACAACATGGACCCAGAGCAACCAGGACCATCTCATTACCAGTCACCCTATAGCGGTGAAAACCCTCCCCACAGTCACATGAACCGCTGTAGAGTATGCCACAATCTTTTCACCTACAATCAGGGTAGCCGGCGCTGGGACAGAACAGGTCAGCCTTCATCTACTGAGAGAAACACACCATGGCAACCTTCTAGTTCTGCCTTCCACAGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10425
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
ENSDART00000098033 Nonsense 421 1194 6 18
ENSDART00000098033 Nonsense 421 1194 6 18
Genomic Location (Zv9):
Chromosome 7 (position 40744942)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 39081199
GRCz11 7 39352216
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCCACAAAGAACTGGCGCTTCCTCTGTTAGCCTTCTTTCTGTCCTGCGA[C/T]AGCAAGAGACTTCCTTTCAATCACCTGTTTACACTTCTGCTAKTGATAGA
Long Flanking Sequence:
AGGCTGGAGGTGCCCATTCTGCTTCCACTGATGGGTCCTCCGATTCTTCTGGCCCTTACACTCTTATGTGCGTTCAGCCGCTTGGAATGGTGTGTTTTTGTAGCCGTTGCTCTGCAGCACGAGTTCCATCTCCACCTGATGAGGACCCTTCAGACTCGGCATCCCTGGAGGCACAAGCTCACACCTTTTCTTCTGCACGCACAGAGCCACTGCAGATGTCACGGTTTTCTGTTGAGTCTCGTGCTGCAAATCGCTCCTCTGCATTCAGCAGCGTGTATGGTGGAGGCAGCAACATGCGGAATCATTCTTCCAGCTCTGGCAGGAGGGGAGTGACTGGAATGGCACCTGTCCCGCATTTCCGACAACATCCACCAGGTAGGGAAGGTGGAGGACGTCACCCTGGAGCAGACTGGACAGTCAGTGGACTTAATGGACAAAGCAGTAGTATGACTCCACAAAGAACTGGCGCTTCCTCTGTTAGCCTTCTTTCTGTCCTGCGA[C/T]AGCAAGAGACTTCCTTTCAATCACCTGTTTACACTTCTGCTAGTGATAGATGGGGCAGCACACCGGGAACTAGTTCCAGCAGGCACCGTCCTCCAGAAGAAGAGGGACAGAGCAGCTCCTCTTCCATCCACAGTGTCCTGCGTTGTAACCTTTACCGCTATTTTATGGATTATGAGGGAACGCAGGACACGGTCCAGCCTCTTGATGGCAGCAGACAGGACCAGCAGACTCAGGAAATGCTCAACAACAACATGGACCCAGAGCAACCAGGACCATCTCATTACCAGTCACCCTATAGCGGTGAAAACCCTCCCCACAGTCACATGAACCGCTGTAGAGTATGCCACAATCTTTTCACCTACAATCAGGGTAGCCGGCGCTGGGACAGAACAGGTCAGCCTTCATCTACTGAGAGAAACACACCATGGCAACCTTCTAGTTCTGCCTTCCACAGCGTAGCTCCAGTTTCACAATCTAATGAACACCTACTGGAACACAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40965
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
ENSDART00000098033 Nonsense 687 1194 7 18
Genomic Location (Zv9):
Chromosome 7 (position 40736849)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 39073106
GRCz11 7 39344123
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGTCTCTTTCGAGAAATGGCACCTCTGGGTCACGAGACCACCCCATCTA[T/A]CCCGACCCAGCCAGGTGAAGCCGTGTGTTTGTGTATGTGTGTGAACAGCA
Long Flanking Sequence:
TGTGCCCTGCCAGTCCAAGAAGGCATGCTTTGGACTCGGCCTCCTCTCTTAATGGCCTTCAGCAAACTCTCCGTTGTATGAGGAATAGCACAAACCCAGACTTAACAAATACCCCGATTTAATGGGTTATTAACCAATTCCTGGCCAAGCCTGGCAGAGCTCACATCATTACTTACACATTATATTCATTTAGCCTTCACATAACAGTCGGTAATGAGCATACTAATGTCCTTGTGCAGTTTAATGAGATTTTTAATGATTGTGATGCTGCTCGGTGGGGAGTGTTACTGTAGAAACCGAATGGTGGAAATTGGAAGAAATGTGTCTTCTTCATTTTTGTTTGACGTCCTCTCCAAAAATTCTTAATCTGGACAGGAAGTGCTTTGCAACTTCAAAACAAACAAAAGCAATGCAATTCTCTTTTGTAGGAGGCTGCTGGAGTCGTCCATGATGTCTCTTTCGAGAAATGGCACCTCTGGGTCACGAGACCACCCCATCTA[T/A]CCCGACCCAGCCAGGTGAAGCCGTGTGTTTGTGTATGTGTGTGAACAGCATTTCACCGTCATGCCGCTTGGACGGTGAGGTCTGGGTAATGAGAACGAGTGTGTGTTATGCTTCCGGACAGTAGTGTGACATTTCAGACTCACCAACACCCCTGTGTCCCCTTAATTCAAACATGCACACACAGCCTGTCAGCATCCTCGGACTTTGTGTGTAAGGCTCATAATAACGTGAGTTCATGGCTAGTGAGTCATTGTTGAGCTCTGGGGAATCAGCAGTGGTTCGGGATCAAGACAGATTGTTAGCGCAGACTCCCGCTGGCTGGTTCGCACAAACACACGGACCGACGCGCACCTCTAACCTGTGAATTACCACAACAGACTCATTTCCCCCAGAGCAGAATGTACCTGGTGTTAGAAGCCATCTGAGCAGAGGGTTAGTCTGACTCCGGCAGGAGTAATTGCTGCTATATGACACTGTTGTTTCCCGCATCTTTCTCTGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14147
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
ENSDART00000098033 Nonsense 1054 1194 16 18
Genomic Location (Zv9):
Chromosome 7 (position 40673404)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 39009661
GRCz11 7 39280909
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCATCCTGCTGTGGGATGTGTCATGTTTTGCAGGAGCAGCAGGACTGAT[C/T]GACGGTCACGCAGAGACATAGGCCTGATGAATGGAGTTGGTCTGCAGCCA
Long Flanking Sequence:
TTTGCTTATCCCACAGAGGAATAAAACGCATTGGAATGACACAAGGTCGAGAAAACAGTCATAGAAATTAATGTGTTTTTGGATGAACTATCCCTGAACTGCCTGTGTAATTGTTCAAGGAGGCATTGTTTGGTTTGCTAGCATTGTGCTTGTGTTGTTTTCTCCTGCGGATAAATTACTGCTGCTTGTATTATTCTCAAGTTGTTGTGGGTGAAAGGGTCTGCTAATTATATGCCACTGTTGAACGTCCTCACTTATCCAGCTTTCATGAAAGAAAACAACATTGTGTCAGGAAGGATTTAGCATTGTCTAGCAAGTACTTCTACTGACACGTGTCTTCTTACATCTAGAGCTCCTTCAGCCTTGTGCAGAACTTAACTTTGTTTTGTCAGATTAGACAGGACTGGCCTGAGGACTGTGATAATGTTGTAAGATTGGCTGTAGTGGTCACTCATCCTGCTGTGGGATGTGTCATGTTTTGCAGGAGCAGCAGGACTGAT[C/T]GACGGTCACGCAGAGACATAGGCCTGATGAATGGAGTTGGTCTGCAGCCACAACCTCCCGCCGCTAGTGTTACATCACAGGGGACGCAGACACAGAACCAGCGACTACAGCATGCAGAGACACAGACCGACCGCGATCTTCCAGATGACCCCCAGCAGCCCAGCACTTCTCAGGGGTCACAGGTCACTGATGGTAAGACACTCTCTGTGAATCAGATTTTATGAATGAGCTTGGGTGAGTGAAGTCCATCTGTGATTAAATTTACACTTCATTGTTCTAAATTATTGTCTCTTTCTGAATGCAAAAATATGCAGCAATTTAAGTACATTTGCTATACTCTGTATGCAGATTCCAGCTGTAATGTTTATATTGTATATACCCTAAACCATGTCATCTTATTATGATATCTGTTTACATGTACATTTTGTGCAAGAAATATATTTTAGTGTCAGTGTTTCCATAGCAACAAGCTGGTGTCTGTGCTTCTGTCAGAAAAAAAA
Associated Phenotype:
Not determined