Busch Lab

ZMP

atm

Ensembl ID:
ENSDARG00000002385
ZFIN IDs:
ZDB-GENE-040809-1, ZDB-GENE-040809-1
Description:
Ataxia telangiectasia mutated [Source:UniProtKB/TrEMBL;Acc:Q59IS5]
Human Orthologue:
ATM
Human Description:
ataxia telangiectasia mutated [Source:HGNC Symbol;Acc:795]
Mouse Orthologue:
Atm
Mouse Description:
ataxia telangiectasia mutated homolog (human) Gene [Source:MGI Symbol;Acc:MGI:107202]

Alleles

There are 14 alleles of this gene:

Allele Name Consequence Status Availability
sa14977 Essential Splice Site Available for shipment Available now
sa35807 Essential Splice Site Available for shipment Available now
sa15974 Nonsense Available for shipment Available now
sa22587 Essential Splice Site Available for shipment Available now
sa17959 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa14977
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
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Mutation:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002922 Essential Splice Site 195 2452 None 51
ENSDART00000086173 Essential Splice Site 194 2458 None 54
Genomic Location (Zv9):
Chromosome 15 (position 6498174)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 6616067
GRCz11 15 6613400
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTGCCTGTGAGGTTGCTGAATGACCTGTGTGACATGTCCAAACAATTGG[T/G]AAGATTTATTAGCATTCCATAATTATAGCSAGYTAGTGGGAATTTYATTT
Long Flanking Sequence:
ATATTTAAAAAAAAAAATACATATATATATATATATATATATATATATATATATATATATATATATATATATTTATTTTTTTATTTATTAAATATTTAAATAAATAAAAAGTTATTTATTTTTATATATATATAAAAAAAATATATATATATGTATATATATATATATATATATATATATATATATATATATTATATATATAATATATTTTCTCTTTGTAAACTGTCCAATGAAAAGCCATTTTTGGTCTGTCAAAGGAACTACTTTTGTGTCATTTTAATTATACCATTTGCACATCTGTTTACATAATGAATTCTATTGAGTGACCAAGATCTTTGTTGTCTTGTGTTGTGTTTTCAATGCAATTGTCAAAGAGGTTCATAGATGTCTGAATGATTTTTTTTAGGGGGACAAAATGTCGACCATCTCACGCACGTTATTCATGAAGACTTTGCCTGTGAGGTTGCTGAATGACCTGTGTGACATGTCCAAACAATTGG[T/G]AAGATTTATTAGCATTCCATAATTATAGCCAGTTAGTGGGAATTTTATTTTGTATAACAACATAAAATGAAACAAGACAAAAAAAAAATAGATGGCGAAATGAGAAATAAAGATGTGTTTCTTTTAGGATGTTTTGATTCAGTTTTGTTCCACAAGTGCGGGATGAGTGATGTTTAATTAATTATCTCTAATTAATCAGAGATTAATATTTATCTCTTTCTGACTATGACATAAATCATACCTTTTACTTTTACAGTTGAGCAACTCTGGTAAAAAAGACACCATAGTCATAGAAAGCGAACCAGTGGATATGCAAACGAGCAGAATCCAAGTGGACAATCAGGAAGAGATTGATCTGTTTGAAGATGGTGATGGGACCCAACACATCACTTCCAGACCTTCCCAGTCTAACGAAGAAGCTGCTGATTCAAAGTTCATCACAGGTTTGAAGAAAGACTGGAAGATATACATGTGATTTTATATTTTTCAGTTTAAGATCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35807
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
ENSDART00000002922 Essential Splice Site 969 2452 20 51
ENSDART00000086173 Essential Splice Site 975 2458 23 54
Genomic Location (Zv9):
Chromosome 15 (position 6465507)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 6583400
GRCz11 15 6580733
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTACTCTTTATTTAATGTGCCTGCTTCTCCCTTTTTCCATCTTTTGCA[G/T]GAAATTGAGCATTTTCTGTCTGTTGCATCTTGTGATTCTTTGCCCTTGGC
Long Flanking Sequence:
GATGTTTCTAAATGGTATGGGGTTTTTTATGTTCGTTAGTGGGAGAGGCGGTGGCGGCGCCACAGGGAGCCTTCTGTACATAACATACTCCACTATTTTAATGTAAAACTCACGGAATGCTAACGCATACAGACACATTGCAGTCGCTGGTGACGATTGTGTTTGTAGCTAAATCATACCTGCCAAACTTACGTTTTTCGAGAGTCTCTCGTATTTCACACCCATCTTCTGCCACCCTTCCATTATGTTATTTCTTTTGGTAATCTTCCGTAATTTCATGCATTTTACACTCATAGATGTTGTTCATGCCCACACAGCAATATTACACATCAACTAAAGTTTAAAATATGATATCATAGTGGACCACCCCTTTAAGAAAATATAAGTCAGCTGGTGATCGTGGCAAGTTATTATGGTACTTGAAATCGATCATTTATACTTTTAACATTTTTCTACTCTTTATTTAATGTGCCTGCTTCTCCCTTTTTCCATCTTTTGCA[G/T]GAAATTGAGCATTTTCTGTCTGTTGCATCTTGTGATTCTTTGCCCTTGGCCCGTTTGGAGGGATTGAAAGATTTGAAAAGGCAGCTTCACAGCCATAAACAGCAGATTGGACAACTTTTGAAAGAATGCCATGGTCAGAATCATGACACTTTTCTAAACTATTACGCCTCATTCACACGGGGCTTTAGCGTCAAGGCTTGACAGTGGGCGTGTCTGAAGTTGGGGCTGACGCGATCGTCATAGCAGCGTCAGCCAATGAAATTCAGTCAGCAATATGCCACTGTCTAGCTGGTGTATTTGCTTACAGCGATCTGATTTGCTGACGCTTCCATCGGCGCTTGAAAAGTTGAGCTAGTCCCAACTTCTGCAGCGAGCAACGCCTCTGAAGCGGCGCCGACAGATCCACAATGCAGTTCGGCAATGCCTGACGTCACCCATTTAAAGTGAATGGGAAGTGTTGACGCTGACGCCCAGTGTGAATGGGGCGTTAGTAGTGTTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15974
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
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Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002922 Nonsense 1661 2452 34 51
ENSDART00000086173 Nonsense 1667 2458 37 54
Genomic Location (Zv9):
Chromosome 15 (position 6442959)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 6560852
GRCz11 15 6558185
KASP Assay ID:
2260-8141.1 (used for ordering genotyping assays)
KASP Sequence:
CCTCTCACCTGATGGAGCTGTGCAGACTGGCTCRTTCTGCAGGAAACACA[C/T]AGGTGAGTCCATGGCTGCAWCCGAAATCACCTACYACTCARTAGGTACTG
Long Flanking Sequence:
TGTATGTATATATATATCTTTAAGTTGTTAGATTTTCAGAGATTCTGAATGTTACTGTATCGGTTTCAGGACAGAGTAAATTTTCGTTTGTTAGCATAGCATCTGCGTGTACAGTAGATGTCATAACTACACTAGCTTAATTAAAGGTTGATTAATTAAAGGTAGAATATGAGAAATTGAAATGTAAAACAAAATAACCCAATATTCTGCTTACCCTATGTTTACATTTTTTAGTTGTGAAAAGACCTTTTATTTCTGTTCTTGACAGGCCAGTAACTGACTCCAGCCTCAATGAGGTGTACAGAAAGTGGCAACAGCACTCCGACTTGTTAACCGACAGTGATTTCAGTTTGGTGGAGCCAGTCTTAGCCCTTCGCTCCTCCATACAGGAAGCCCTGATTTCCTCAGAGACTGATCCGGACAGGAAGAACTACCTTATTTCGACATATTCCTCTCACCTGATGGAGCTGTGCAGACTGGCTCGTTCTGCAGGAAACACA[C/T]AGGTGAGTCCATGGCTGCATCCGAAATCACCTACCACTCAATAGGTACTGCATTTGAATTTAAATGTACCACTCGGCTGTTAGAAAAGTACGTTCTGTACAGTATAAATATAAGCAGTATGAATGGAACTCGAACGTACTACATCCACCATTTATGTCATCATCACAAGACCTACCTGCATCAGTCGCACTTTATTCCTATTCATGAATTCTCTCACGGTGCATCATGGGATAGCATAGCGTCCATCGGATGAATACTTAAGAATCTTGCAGAAAGTAGTAGATCAATCGGGTACTTCTCGCTTAAGCTGCGCCCCAAATGGCACACTATGCACTTATGCGCTATGTACTTACACACTTAACAGCAGGGGCGTCGCTAGGGGGGGAAAGTTAGAAAGATTCTAAAGGCCCATTTATTTAGGGGGCCCCCAAAGACTTATGAGAGGGGCCTAGGTCAATCCACCCAACCCCTGGGTGGTATACCCCTTGGTATACAAAGTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22587
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
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Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002922 Essential Splice Site 2256 2452 46 51
ENSDART00000086173 Essential Splice Site 2262 2458 49 54
Genomic Location (Zv9):
Chromosome 15 (position 6410316)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 6528209
GRCz11 15 6525542
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGGAGAGACGGCTAGCTTACACTCGTAGCGTGGCCACCTCTTCTATTGG[T/C]ACACATACACACTATCATAAACCAAGCTGAGCATAAACTACTCTCACTAT
Long Flanking Sequence:
TATGTATGTATGTATATATATATATATATATATATATATATATGTATATATGTATGTATGTATGTATATATATATATATATATATATATATATATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTGTATGTATGTATGTATGTATGTATGTATGTATGTGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTATGTGTGTATGTATATATATATACACACACACAGGAAAATTAAATCTGATTATGCATTGTTTCAATGCATTGATATAGGAGGCTCAAAGGATGGAATTCAATGACAAACTGCAGGCTTTCACAGAGGTGTGCCAAAACTTCCGACCAGTATTCCGATACTTCTGCATGGAACGCTTTTTGGACCCTGCTATCTGGCTGGAGAGACGGCTAGCTTACACTCGTAGCGTGGCCACCTCTTCTATTGG[T/C]ACACATACACACTATCATAAACCAAGCTGAGCATAAACTACTCTCACTATAACATCACTTCACTTTTGTAATTAATTGCTTCTTACAGTGGGTTACATTGTTGGCCTGGGCGATCGACACATTCAGAATATTCTCATTGATGAACAGACCTCAGAACTGGTCCACATTGACCTCGGTATGTATGTATACACAGAAAACCAGTGCTTCAGAAGATCTTTTGTTTTAATGTTCACCTTTGTTCTCTCTCCACACACAGGTGTTGCGTTTGAGCAGGGCAAAATCTTACCCACTCCTGAAACGGTTCCATTCAGATTGTCTCGAGACATTGTGGATGGCATGGGCATCACTGGGGTGGAGGGTGTCTTCAGAAGGTCAGTGTTGAGGACAAGATCATCTCCCTTCTTTTTTTAAAAGAATCATGTATTTCTAGACCGCTTTCAGTGGAAGTTTGTGTTTAGTTTTACACATAAGCAAGTGTTGCCTCATGTGCTCAGTTTCAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17959
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
ENSDART00000002922 Essential Splice Site 2344 2452 49 51
ENSDART00000086173 Essential Splice Site 2350 2458 52 54
Genomic Location (Zv9):
Chromosome 15 (position 6405693)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 6523586
GRCz11 15 6520919
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AATGGAAGTTATGAGGAGTTCTCAGGAAGCCCTTTTGACCATTGTGGAGG[T/C]AAACGGATCATTTCATTAGGTCTYGYAACTACAGGTAGGATKGTTCACAA
Long Flanking Sequence:
GTTATACCTACATATTAATAATCACATATTTATCTATGCTACATGTTTTGATTCAGCTTGTCTATCCAATATTTGTTGCGCAGTGATGCAAATGGGTTTAAGTTAGTTAATATAACTTTTGGGTGACACATTATCATAATCATATCAGCTTCAAATCATGATCTTTATCATTGAAGTGAATTCTGCAGACTCTCTTACTAGAGATCAGTCATGAACCCTAAATCAAACTGGTATTAGAAAAGATTTTTAGTAAACATTGTGATTCTTATCCAAGCAGATCATTTTGTCAACAGCTAGCTTGTTAAACTAGCGTAACGTATAGTAACGCCACTAAAATGGTTTCAATTGAAACATCAAAATGACATGAATTGTGACATTTTTTAAATAAATGTGGGCTTAAATTATCATTAATAATGATTTTGTTTTGTTATCTAGATGTTGTGAGAAAACAATGGAAGTTATGAGGAGTTCTCAGGAAGCCCTTTTGACCATTGTGGAGG[T/C]AAACGGATCATTTCATTAGGTCTCGTAACTACAGGTAGGATGGTTCACAAAATTGTCGGTTCGGTTTGTATCATAGTTCTGTTGTCATGGTTTTTCGATTTGATTCGGTTTACATTGTGAAAAAAAAACACATACAGTTAGGTCCATAAATATTTGGACATCAACACATTTTTGGCTCCGTACACTAACACAGTGGATTTAAAGGTTCAGGACACCCTGGAGAACTTTTTTTTTTTATATTAACAGATTTGTGTGTTTTGAGCATCAGTTAAGACAATGTTAGCACCTGTCAGCTTTAATTGTGGGGAAAACTGGGTAATTTTGAGCTTTTGTCAGCTAATTTCAGCTTCCGGGTTTAAAATGATTTTTAGGGCAGGATCAAAATCGGCGACGTAGCGCAAAACTGCAAGTGCAATGATGACGCGTCAGTTTCTCATTATTATTCATAGTGGAGTTTTCTTATCCTATGAGAAGAGCCGGCTGCTTAATTATTCATGAGA
Associated Phenotype:
Not determined