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 12 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa14977 Essential Splice Site Available for shipment Available now
sa42486 Essential Splice Site Mutation detected in F1 DNA During 2016
sa42485 Nonsense Mutation detected in F1 DNA During 2016
sa35808 Nonsense Mutation detected in F1 DNA During 2016
sa35807 Essential Splice Site Available for shipment Available now
sa24975 Nonsense Mutation detected in F1 DNA During 2016
sa15974 Nonsense Available for shipment Available now
sa42484 Nonsense Mutation detected in F1 DNA During 2016
sa6364 Nonsense Mutation detected in F1 DNA During 2016
sa22587 Essential Splice Site Available for shipment Available now
sa42483 Nonsense Mutation detected in F1 DNA During 2016
sa17959 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa14977
Current 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
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
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTTGCCTGTGAGGTTGCTGAATGACCTGTGTGACATGTCCAAACAATTGG[T/G]AAGATTTATTAGCATTCCATAATTATAGCSAGYTAGTGGGAATTTYATTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42486
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002922 Essential Splice Site 351 2452 7 51
ENSDART00000086173 Essential Splice Site 349 2458 9 54
Genomic Location (Zv9):
Chromosome 15 (position 6495562)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 6613455
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCGCATCTCTGGATCCTGAAGAATTTAATGCTCTTCTCAGACCTCTAGCG[T/G]AAGGATATATCCATTTCGCTTATCTTTTATGATTATTATATTTTGTGATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42485
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002922 Nonsense 809 2452 17 51
ENSDART00000086173 Nonsense 807 2458 19 54
Genomic Location (Zv9):
Chromosome 15 (position 6474321)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 6592214
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGAATTCTGGTCGCAGTCTGTCAGAAGGCCGACGAGACCACCAATGCCTA[C/A]GAGAGGCACCGCATACTGATGATGTACCATTTATTTGTCAGCCTGCTGCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35808
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002922 Nonsense 907 2452 18 51
ENSDART00000086173 Nonsense 913 2458 21 54
Genomic Location (Zv9):
Chromosome 15 (position 6471823)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 6589716
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGAGCCACCTGCAGGTCATTGTGGGTACTCTCACAGCACAGGTCACTGAA[C/T]AATCTGCAATATCTGAGCAGGTGAGACAGCACAGAAAATGTGAAGTGCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35807
Current 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
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
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTCTACTCTTTATTTAATGTGCCTGCTTCTCCCTTTTTCCATCTTTTGCA[G/T]GAAATTGAGCATTTTCTGTCTGTTGCATCTTGTGATTCTTTGCCCTTGGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24975
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002922 Nonsense 1357 2452 27 51
ENSDART00000086173 Nonsense 1363 2458 30 54
Genomic Location (Zv9):
Chromosome 15 (position 6455994)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 6573887
KASP Assay ID:
554-7746.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTACTCTGAGATCTACGTCGACAAGATCAGATCCAACATGGAGCAGAAT[C/T]GAAGGTACAGTACTGGCGGAATACATAAATGAATGCATTCAAAAGCTTAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15974
Current 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
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
KASP Assay ID:
2260-8141.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCTCTCACCTGATGGAGCTGTGCAGACTGGCTCRTTCTGCAGGAAACACA[C/T]AGGTGAGTCCATGGCTGCAWCCGAAATCACCTACYACTCARTAGGTACTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42484
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002922 Nonsense 1729 2452 36 51
ENSDART00000086173 Nonsense 1735 2458 39 54
Genomic Location (Zv9):
Chromosome 15 (position 6438257)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 6556150
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATGTCCTGATTTGAGCAGGTGTGTGTGAATCCAGCTGTGGTGCCGGTGTA[T/A]TCTGAGTGTTTGAGATTATGTGGAAGCTGGCTGGCCGAATCCTGTCTGGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6364
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002922 Nonsense 1784 2452 37 51
ENSDART00000086173 Nonsense 1790 2458 40 54
Genomic Location (Zv9):
Chromosome 15 (position 6433600)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 6551493
KASP Assay ID:
554-4774.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGGCGGTTTAAAATCAAAACTACAGAGCCAGAAAACCCAGGCCTACTTTT[C/A]GCTGGCCCGTTTTTCTGACGCACAGTACCAGGGCATCGAAAACTACATGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22587
Current 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
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
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTGGAGAGACGGCTAGCTTACACTCGTAGCGTGGCCACCTCTTCTATTGG[T/C]ACACATACACACTATCATAAACCAAGCTGAGCATAAACTACTCTCACTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42483
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002922 Nonsense 2290 2452 48 51
ENSDART00000086173 Nonsense 2296 2458 51 54
Genomic Location (Zv9):
Chromosome 15 (position 6410045)
Other Location(s):
Assembly Chromosome Position
GRCz10 15 6527938
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTTAATGTTCACCTTTGTTCTCTCTCCACACACAGGTGTTGCGTTTGAG[C/T]AGGGCAAAATCTTACCCACTCCTGAAACGGTTCCATTCAGATTGTCTCGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17959
Current 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
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
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AATGGAAGTTATGAGGAGTTCTCAGGAAGCCCTTTTGACCATTGTGGAGG[T/C]AAACGGATCATTTCATTAGGTCTYGYAACTACAGGTAGGATKGTTCACAA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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