Busch Lab

ZMP

LOC563039

Ensembl ID:
ENSDARG00000076590
Human Orthologue:
ATAD2
Human Description:
ATPase family, AAA domain containing 2 [Source:HGNC Symbol;Acc:30123]
Mouse Orthologue:
Atad2
Mouse Description:
ATPase family, AAA domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:1917722]

Alleles

There are 7 alleles of this gene:

Allele Name Consequence Status Availability
sa42802 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa6447 Nonsense Mutation detected in F1 DNA Not yet available
sa14615 Nonsense Available for shipment Available now
sa994 Nonsense Available for shipment Available now
sa42803 Nonsense Mutation detected in F1 DNA Not yet available
sa45585 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa42802
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111963 Essential Splice Site 181 1358 5 28
Genomic Location (Zv9):
Chromosome 16 (position 46274029)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 43428642
GRCz11 16 43332400
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATGCAGAAGATGCGTCGTAGACTGAGGAGCAGAGACAGTGAGGAGGAGG[T/A]GCGTCGTGATCTTCATCACTGATTCCTGCAGTAAGGCTTTGATCAGCCAG
Long Flanking Sequence:
AGATGGGGAGAGATCGGCAGATGAGCACACAGGTGGGATTGTCAAGAGTATCTGATAATTGCAGTTATGTTAGTTTTATGCTAACTAAAATGAATCCATTCTTCAGACGAGGTGGACTCAACTCCCACATCACGAAATCTGCGTGCTCGGATCCAAAGGCGAGGAGAAGACGACAGTGCTGTGAGGCGTAGTTCCAGAATAACAAGATATAAGCTTGACACCAGGAAGCAGTCCGTCCTCTATGACAGACTTATCACAAAGTATGCACTGATATAGAAAACACTGAGTTGTGTTTCTGTGTTTGTCATTTTACGATCTTTCCCACTTGATGAAATCCATATTGTAGATTTACTTTGGACCTTTATATCTATATCCGAATGGTTCCTGGTACTCAGTGGCTGTTTTCATCTATTTTAGTACTGCAGAGGCTGTTCTTCAGAAGATGGATGACATGCAGAAGATGCGTCGTAGACTGAGGAGCAGAGACAGTGAGGAGGAGG[T/A]GCGTCGTGATCTTCATCACTGATTCCTGCAGTAAGGCTTTGATCAGCCAGGACTTTAAACTTGTTTTTTTCTTTGTAGAAATTGAGAATTTACTCTGGAACAAAGAGAACGAGGATAACAAAACCATCCGTAAGAGGACAAGAGGAGAGTTCAGACAACCAGGAGAATGGTAATAATTCTGAATCAGGAACGTAATACTGCACATGCTGAACCTGAAGTTTTCTGCTTCAATATCTAACAGTGATTCTGCATTACTGCTGAATATATATACCCCCGCCATTATTTAAAAAAAGTGCATTTTAGCCCTCAAAAATTTGTTTAATTCAAGAAATTTTGTTAGATAATAAGTAAAATTTGTACAAATGAAAAGTCAATGTAAAATTTGTTTACAGTACAAAAAGTACAAGCAATGGGTCAGTCAGGGTAAAGTCTGATTTGTACTTCTGCATCAAGCGCACACGTATGGTCTGGCGCAGTGGTCCCACACCCCTCACCGTGGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6447
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
ENSDART00000111963 Nonsense 357 1358 11 28
Genomic Location (Zv9):
Chromosome 16 (position 46276213)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 43426458
GRCz11 16 43330216
KASP Assay ID:
554-4182.1 (used for ordering genotyping assays)
KASP Sequence:
TGAAATAAACTAAWCACNNNACCTTTTGTAGATGCCTCCCTATGAATTTA[C/T]GAAAGGAYGATCTGTTAGGAATCCACAAGGACAGGATTAAAATCGGAGCA
Long Flanking Sequence:
AGATCAAGTTTTCATATGGCCTTACTACAGCACAGGTGGAAAAAGTCAAATCAATGTATAGCAGTTTAAAATTAATAACCACACCAATATATATTGCACATTGCACATTTTCAAAGAGAGGCGTTGGGCTGAAAGGGCTGGTGGAGCATTTTCTGAAAGTTTATACTTTTAATTTTTGGCGTCATTAAAGTTGTTTAAAAGAGCTTTTTGTCTTTCTCATCATCTCAGGAGAAGACATGCCATTCACAGTAGTGACTCTACCTCATCCTCTTCTTCTGATGAAGAGAAATTTGAGAGACGAAGAACTAAGAGTCGTAATAGGTCAATAAACAGGTAAAGAGTTCCCACTGAAAGTTTTTACCTATATCTATAGGAGCTGTGCAAGTTGTACATTTCGTTTTTTAGATACTTCTAGCCTTGTTAAAAGCAATGCTTAGCCTTTTTTTCCACTGAAATAAACTAAACACATTACCTTTTGTAGATGCCTCCCTATGAATTTA[C/T]GAAAGGACGATCTGTTAGGAATCCACAAGGACAGGATTAAAATCGGAGCAAGTCTTGCAGATGTTGACCCAATGCAGATTGACCAAACAGTACGTATTTGCCATTTGACTTGCAAGAGTGGTAAAAACCTGTATTTACTGTTGTGACTCTTGTGTACAGGTGCGCTTCGACAGCATTGGGGGTTTGGGAAAACACATCTCTGCACTGAAGGAAATGGTTGTGTTTCCTTTACTCTACCCAGAAGTCTTTGAGAAATTTAAGATTCAGCCTCCAAGGTATGCAAAGCAGTATTAATAAGAGTTTATGTCTAAAGGTCTATTTGAATACTAAATAAGAATCTTTATTGACCGAATGTTATGTGTTTTCAGAGGATGTCTGTTCTATGGCCCTCCTGGCACAGGAAAGACTCTTGTCGCTCGAGCCCTAGCCAACGAGTGCAGTCAAGGCGAGAGAAAGGTGGCTTTCTTTATGAGGAAAGGGGCAGACTGTCTGAGCAAATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14615
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111963 Nonsense 395 1358 12 28
Genomic Location (Zv9):
Chromosome 16 (position 46276398)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 43426273
GRCz11 16 43330031
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTACTGTTGTGRCTCTTGTGTACAGGTGCGCTTCGACAGCATTGGGGGTT[T/A]GGGAAAACACATCTCTGCACTGAAGGAAATGGTTGTGTTTCCTTTACTCT
Long Flanking Sequence:
TAAAGTTGTTTAAAAGAGCTTTTTGTCTTTCTCATCATCTCAGGAGAAGACATGCCATTCACAGTAGTGACTCTACCTCATCCTCTTCTTCTGATGAAGAGAAATTTGAGAGACGAAGAACTAAGAGTCGTAATAGGTCAATAAACAGGTAAAGAGTTCCCACTGAAAGTTTTTACCTATATCTATAGGAGCTGTGCAAGTTGTACATTTCGTTTTTTAGATACTTCTAGCCTTGTTAAAAGCAATGCTTAGCCTTTTTTTCCACTGAAATAAACTAAACACATTACCTTTTGTAGATGCCTCCCTATGAATTTACGAAAGGACGATCTGTTAGGAATCCACAAGGACAGGATTAAAATCGGAGCAAGTCTTGCAGATGTTGACCCAATGCAGATTGACCAAACAGTACGTATTTGCCATTTGACTTGCAAGAGTGGTAAAAACCTGTATTTACTGTTGTGACTCTTGTGTACAGGTGCGCTTCGACAGCATTGGGGGTT[T/A]GGGAAAACACATCTCTGCACTGAAGGAAATGGTTGTGTTTCCTTTACTCTACCCAGAAGTCTTTGAGAAATTTAAGATTCAGCCTCCAAGGTATGCAAAGCAGTATTAATAAGAGTTTATGTCTAAAGGTCTATTTGAATACTAAATAAGAATCTTTATTGACCGAATGTTATGTGTTTTCAGAGGATGTCTGTTCTATGGCCCTCCTGGCACAGGAAAGACTCTTGTCGCTCGAGCCCTAGCCAACGAGTGCAGTCAAGGCGAGAGAAAGGTGGCTTTCTTTATGAGGAAAGGGGCAGACTGTCTGAGCAAATGGGTGGGCGAGTCTGAGAGACAGCTCCGTCTCCTGTTTGACCAGGTATCATTGTTTTATTAGAAAATAAAAGGTGAAACTGATGCTTATTTTGTTTTTTTACATTATTAAAATAACTATGTCTTTTATTTTGAAGGCATACCAGATGCGTCCATCAATTATTTTCTTTGATGAGATTGATGGTATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa994
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:
T > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111963 Nonsense 430 1358 13 28
Genomic Location (Zv9):
Chromosome 16 (position 46276597)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 43426074
GRCz11 16 43329832
KASP Assay ID:
554-0898.1 (used for ordering genotyping assays)
KASP Sequence:
AGAATCTTTATTGACCGAATGTTATGTGTTTTCAGAGGATGTCTGTTCTA[T/G]GGCCCTCCTGGMACAGGAAAGACTCTTGTYGCTCGAGCCCTAGCCAACGA
Long Flanking Sequence:
GTTGTACATTTCGTTTTTTAGATACTTCTAGCCTTGTTAAAAGCAATGCTTAGCCTTTTTTTCCACTGAAATAAACTAAACACATTACCTTTTGTAGATGCCTCCCTATGAATTTACGAAAGGACGATCTGTTAGGAATCCACAAGGACAGGATTAAAATCGGAGCAAGTCTTGCAGATGTTGACCCAATGCAGATTGACCAAACAGTACGTATTTGCCATTTGACTTGCAAGAGTGGTAAAAACCTGTATTTACTGTTGTGACTCTTGTGTACAGGTGCGCTTCGACAGCATTGGGGGTTTGGGAAAACACATCTCTGCACTGAAGGAAATGGTTGTGTTTCCTTTACTCTACCCAGAAGTCTTTGAGAAATTTAAGATTCAGCCTCCAAGGTATGCAAAGCAGTATTAATAAGAGTTTATGTCTAAAGGTCTATTTGAATACTAAATAAGAATCTTTATTGACCGAATGTTATGTGTTTTCAGAGGATGTCTGTTCTA[T/G]GGCCCTCCTGGCACAGGAAAGACTCTTGTCGCTCGAGCCCTAGCCAACGAGTGCAGTCAAGGCGAGAGAAAGGTGGCTTTCTTTATGAGGAAAGGGGCAGACTGTCTGAGCAAATGGGTGGGCGAGTCTGAGAGACAGCTCCGTCTCCTGTTTGACCAGGTATCATTGTTTTATTAGAAAATAAAAGGTGAAACTGATGCTTATTTTGTTTTTTTACATTATTAAAATAACTATGTCTTTTATTTTGAAGGCATACCAGATGCGTCCATCAATTATTTTCTTTGATGAGATTGATGGTATTGCACCTGTTCGGTCTAGCCGGCAAGACCAGATACACAGGTGTGTTAGTCTCTATTATATTTTTGTCTAATGATCTTCTCTTTCTGTCCTGTTATAATACTCTTGAATTGTTTCTTTGTTGTGTAAAGCTCCATCGTGTCCACTTTGCTGGCTCTCATGGATGGGCTGGACAGCCGTGGTGAAGTGGTAGTTATTGGTGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42803
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
ENSDART00000111963 Nonsense 1116 1358 25 28
Genomic Location (Zv9):
Chromosome 16 (position 46282818)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 43419853
GRCz11 16 43323611
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCGACACCCAGTAAAGAAGCTACACCTCTGTCAGCACAAGCTGTGATTT[C/A]ACCACGTCAAGCAGGAATTAATACAGGTTACTGACAAAGCTGGCAACAGC
Long Flanking Sequence:
CTCTTTTATGGTAAATTTTGCAGTGACTCCACAAATCTGGTGTGTTCTGAACTGTGGCTCCTGGTCAACTATAATCCCAACTCAACTTTGTTGACTATTGCAGATGATCCTGAAAGATATATTTTGCAGGCATATTAACATTTGTCATGTTGGTTTTGTACAGATCGGCTCATCAGACACCGTGCCTGTGCTCTCAAGGACACTGTGCATGCCATAATCCGAGATGAATTAGATGAAGACTTTGAGAAGATCTGCGTTGAGATGAAGGAGTCTCGAAGCAAGCGAGGTTACATTCACGATGCATGACATAATACTTGCTTCAGTTTAAGACTGTGGCCAACACACATTTTTTTATGTTTTATATTCAGGCTCTAGCTCCTCACGCTTCACTCCTGCCTACTACCATGTGCTGCCAAAGGTTTCTGCTACAGCGGAGCAGAAGACGAGTGATCCGACACCCAGTAAAGAAGCTACACCTCTGTCAGCACAAGCTGTGATTT[C/A]ACCACGTCAAGCAGGAATTAATACAGGTTACTGACAAAGCTGGCAACAGCACCATAAACATACTTTGTCTCGTAGTAGGATTTGATGTTTTGACATCTGTAAATGGGGTATGTGCAGAGCTAGTGTTACTTCCTACATCAATAAACTTCTGGTGAACAGTTAATGTGACTTTTTAATTTTATACGATTTCTTTTACAGCATAGATGTTTTAATGTAATTAAAATACAATCAGTTAAATAGACTTCAGCATTCATGTAGTTGCTTAAGCGTAAAACGAGATGAAAAGCCGTTTACACACGCACTGTCAGGATCAGCAGGCTAGCACAGTAACTCCATTGATAATACTGGAGTAAAATAAATTTCCATATTTTAAAGAGATGGCATGGAAAATGTTTATTTTATTGCAGTGCTTCTTGTATATTCTGAGGCCCACTTTATATCGTATATATCAATCAGGCAGTGAAGATTGTTGATTTTTAAAGAAAACAGACCTTAAACCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45585
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
ENSDART00000111963 Nonsense 1324 1358 28 28
Genomic Location (Zv9):
Chromosome 16 (position 46286978)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 43415693
GRCz11 16 43319451
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTTCTGCAGAAAGTTGTGGACATGACAGAGGGATATGAGGTCAATCAAT[T/A]GGAGAAACTTTATGCTCTGCTGTGCCAGAGTATATACAGACACAGGAAGG
Long Flanking Sequence:
ATTTTCCTTTGGCTTCGTCCCTTTATTCATATGTTTATCCAGCATATGTATATCCACGATATGTTTTACCTAGTGGGTGCCCTTCCAGCTGCAATCTAGTACTGGGAAACATCCAAACACTTTTATTCACACACATACACTATCCAATTTAGTTAATTCAATTCACCTATAGTGAATCTCTTTAGATTGTGGGGGAAACCGGAGCACCCAGAGGAAACCTACGCCAACACGGGGAGAACATGCAAACTCCACACAGAAATGCCAACTGACCCAGCCAAGGCTTGAACCAGTGATCTTCTTGCTGTGAGGCGACAGTGCTAACCACTGAGCCACCATGTCGCCCTCTTTTTCAACATCAGGAACAAAACTGCATATTTAAAAAGTGCTTTTAAAAAAAGTTTGTAGTGTGTGAATTGTGTTTTCATTCTCTTTTGTGTTCTCATTTCAGGAACTTCTGCAGAAAGTTGTGGACATGACAGAGGGATATGAGGTCAATCAAT[T/A]GGAGAAACTTTATGCTCTGCTGTGCCAGAGTATATACAGACACAGGAAGGATTACGACAAGACTGCACTTATACAGGCATGTTTAGATGCAAAAGCACTAGGGGTGTAACAGATCACAACCCACAGTTCTTAACACACGTGACCTGCAGATTAATCTTTTTTTTACTGCTTGATTAATCCTAAATTTGTAACCATCACAGAGAGATCGCCTCTCGCGTCATTCAAATAACATGTCTAAAAGCATGTTGCCGGCTTTCCTGCAAAATCAGGTGTCTGCAGAGTCTTAAAATGTCTTAAATTTCAAGAACAAAATTTTAGGCCTTAAAAAGTCTTAAATGCACAGAAATAATGTCTCATGTGTGTGTGTATATATATATATGTGTGTGTGTGTGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNTTCTGTTA
Associated Phenotype:
Not determined