Busch Lab

ZMP

KIAA0467

Ensembl ID:
ENSDARG00000077753
Description:
KIAA0467 [Source:HGNC Symbol;Acc:29040]
Human Orthologue:
KIAA0467
Human Description:
KIAA0467 [Source:HGNC Symbol;Acc:29040]
Mouse Orthologue:
Szt2
Mouse Description:
seizure threshold 2 Gene [Source:MGI Symbol;Acc:MGI:3033336]

Alleles

There are 7 alleles of this gene:

Allele Name Consequence Status Availability
sa9524 Nonsense Available for shipment Available now
sa9696 Nonsense Available for shipment Available now
sa12238 Nonsense Available for shipment Available now
sa25326 Nonsense Mutation detected in F1 DNA Not yet available
sa26654 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa9524
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
ENSDART00000114701 Nonsense 409 3183 8 75
ENSDART00000114701 Nonsense 409 3183 8 75
Genomic Location (Zv9):
Chromosome 6 (position 2272526)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 2345328
GRCz11 6 2478025
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCTCCTTCTATCTGGTGCGTCTGATCTCTAAAACTCCCTGTATGGTGCTG[C/T]GATTGGGCTTCCCGATAGGGACTCTGGCTCACACCAGGAACAAGGTGAGG
Long Flanking Sequence:
CAGTTATTAGAAATACATTTTTAAAACTATTATGCTTAGAAATGTGCTAAAACAATCTTCTCTCCATTAAACAGAAATTGGTGAAAAAAATAAACAGACGCACTAATAATTCAGGGGGGCTAATGATTCTGACTTCAACTGTGTGTGTGTGTATATATATACATAAATATATGATATATATATATATATATATTTATTTGTTTTCCAAATTTTAGGACCTTTCAAAGATCATTTGGCATATAATATTGTCATATGTAAAATTTCATAGTATGTCCTAACTTTTTCTCATGACTGCATGTAAAAAGAAATGCGTCTTGGTGGGATTGGATTTTTAAGATTTAGTTAAATGATGACCCTGACATGCACAGGTAATTTGCCAGATTCATCACAGATCAGTTAATCAGTGTTTGAACATGCGTTTTACCCACAGTGTCTCTGAGCTGCCGCCGGTCTCCTTCTATCTGGTGCGTCTGATCTCTAAAACTCCCTGTATGGTGCTG[C/T]GATTGGGCTTCCCGATAGGGACTCTGGCTCACACCAGGAACAAGGTGAGGTGAACATTAAATGAGCAGCATTGTGGGCTGTGCAATAATGAAGACAATAGCATTATATGATAGCATGCTAAATAATGTGATATTCAATGTCAGGGCTGCATGATGCTGGAAAAAGCTGCAATGTGTAATATTGTTGTTGAGTATTGAGATAATGGTATTACTCTTACCAAATAACATTAGCCTAGAAAAATTATATTTATACTTTATATTAGCTCTGTTTTAAAATCAATCATCTATGTAATAATATTAAAATAAAGAGATCAAAGATATTTATATTATATAAAGATATTAAGGCCCCATCTGAGTGGTCACATTTAGATAAACGTCCAATGCATAAATTTAATGTAATTTATTACACATCTGCTATTATAATGATCATTTTGTGATATATTGTGCAGCTTTTTGAATATGCAATATATTAAAAAAAAGTTTTAGCCAATATGTGTTTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9696
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
ENSDART00000114701 Nonsense 409 3183 8 75
ENSDART00000114701 Nonsense 409 3183 8 75
Genomic Location (Zv9):
Chromosome 6 (position 2272526)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 2345328
GRCz11 6 2478025
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCTCCTTCTATCTGGTGCGTCTGATCTCTAAAACTCCCTGTATGGTGCTG[C/T]GATTGGGCTTCCCGATAGGGACTCTGGCTCACACCAGGAACAAGGTGAGG
Long Flanking Sequence:
CAGTTATTAGAAATACATTTTTAAAACTATTATGCTTAGAAATGTGCTAAAACAATCTTCTCTCCATTAAACAGAAATTGGTGAAAAAAATAAACAGACGCACTAATAATTCAGGGGGGCTAATGATTCTGACTTCAACTGTGTGTGTGTGTATATATATACATAAATATATGATATATATATATATATATATTTATTTGTTTTCCAAATTTTAGGACCTTTCAAAGATCATTTGGCATATAATATTGTCATATGTAAAATTTCATAGTATGTCCTAACTTTTTCTCATGACTGCATGTAAAAAGAAATGCGTCTTGGTGGGATTGGATTTTTAAGATTTAGTTAAATGATGACCCTGACATGCACAGGTAATTTGCCAGATTCATCACAGATCAGTTAATCAGTGTTTGAACATGCGTTTTACCCACAGTGTCTCTGAGCTGCCGCCGGTCTCCTTCTATCTGGTGCGTCTGATCTCTAAAACTCCCTGTATGGTGCTG[C/T]GATTGGGCTTCCCGATAGGGACTCTGGCTCACACCAGGAACAAGGTGAGGTGAACATTAAATGAGCAGCATTGTGGGCTGTGCAATAATGAAGACAATAGCATTATATGATAGCATGCTAAATAATGTGATATTCAATGTCAGGGCTGCATGATGCTGGAAAAAGCTGCAATGTGTAATATTGTTGTTGAGTATTGAGATAATGGTATTACTCTTACCAAATAACATTAGCCTAGAAAAATTATATTTATACTTTATATTAGCTCTGTTTTAAAATCAATCATCTATGTAATAATATTAAAATAAAGAGATCAAAGATATTTATATTATATAAAGATATTAAGGCCCCATCTGAGTGGTCACATTTAGATAAACGTCCAATGCATAAATTTAATGTAATTTATTACACATCTGCTATTATAATGATCATTTTGTGATATATTGTGCAGCTTTTTGAATATGCAATATATTAAAAAAAAGTTTTAGCCAATATGTGTTTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12238
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
ENSDART00000114701 Nonsense 550 3183 10 75
Genomic Location (Zv9):
Chromosome 6 (position 2275542)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 2348344
GRCz11 6 2481041
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGCRTCGCTCTCTCGATACTTCCTGCAYCAGCGCTGGGTTTGGGCCTTA[C/T]AGAACGGATCGGGAACYACCGTAWCSCTTTACGCTGTTGCTCGTATCCTC
Long Flanking Sequence:
AATAAGTTTATTTTGCTCACCTCATTAGCAGATTATTTCACTTGTTTTAAAGAAAAACTCACTTCATTTTGACCCATTATTTCTGAATATTTTTGCGTGTTTAGAAAACGCTTTATTTAGATTTAAAATCATTTTTAAAAAATATTTAGACTAAAAAAAACAAAAGCTTGAAGTAAAAAATATCAACATTTAAATTGATAGTTTATCATTTATTTCTAATATTTAATTAGATTTTTTTTCAATTAACAATGTTTTTTTTGTTTTATTGAAGTTTTGGTTTTAGCGAAGCATAACTACACTCTCTAATCTTCTGAATCTCCTGTCACAGGTACGAGAAGCTCCCGTCTGATTTCCGCACCCCTTTCATCCTGAACATGGAGCCGTTTGCTCAGCCGTCCCTCATGGGCGTCCCTCTCAGTGTGGCCGCCAGCAGAACCGCTTCCTCCACCGTGGCGTCGCTCTCTCGATACTTCCTGCATCAGCGCTGGGTTTGGGCCTTA[C/T]AGAACGGATCGGGAACTACCGTATCGCTTTACGCTGTTGCTCGTATCCTCTCCATGCTCTCTGAGTGAGTCTAAAACTGAAGAGCAAATCACCGGTGTATAATGCCTCATTTACTCAAATGACCCAGTTCTAAATATTATTCTTATTTTTTGTCCATTGTATTTCGAATCAAATCAAATCAAATCAGGCCTTTATTTGTCACATACACTTTCATATAGTGAAATTGAACCCCCCGACCGTACACAAACATCACAATTTTCAGGGGAAGACAGGTCACAGGAGGTAGCATTCAGAAAAAGGAAGTAAGATACATTTCAGGAGAGGCAGGCGCAAAAAAAACTCCCTCTCACCTTTCTCTTGAATTAGGGCAATGTGAGAACAGGGAGAGAAAAAAGGCCCAGCAATCAGCACATAAACACACAGACAAGACTCAACATTGCCACAGGGAAGGGGAACAGGGGGGTATGGATATAGTCCGATGAGGGCGGGCAGCCATCTGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25326
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
ENSDART00000114701 Nonsense 868 3183 19 75
Genomic Location (Zv9):
Chromosome 6 (position 2283575)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 2356377
GRCz11 6 2489051
KASP Assay ID:
554-7728.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAATGTGGATCTTGCGGATGAAGAGCCAGCTGGAGCGGAGCCGGGCGGTT[T/A]ATCTCCTCGCTGGAAATGTTACGCCAAATACATCAGCCATCAGCAGATCC
Long Flanking Sequence:
TGGCTGTCAGACATCCCAGATGACCCTTTAACTGATTCATTAGTGACAGAAGGAGTGACTGACCCTGATCTGCTCTCATTATGTTTATCTGTGTGTGTGTTTAGAAGAGAGTTTGAAGCCTCCGGAGAGACAGGACACGGTTCTTTCTTTCCACACTATAGGAAGCAGTAAAGAAGTGACGGGATCTTCCAGTACACTTCAGGTACATCAGCTCATTATACATTTAAACACTGCTGTTCCAATCAGTGCATTTCAGTTTCAAAATGCTTAAGATGACCAATCAAATTAAAGTAGGAGGAGTACGTTTATAAATGTCTTGACAGTCACATTTGATCACTTTAATGCATACCTACTGAATAAAAGCATTCATTTCTTGTGTCTGTGTATCTGTGTCTCTCTTTCTTTCTTTGTGTGTGTGTGTGTGTGTGTGTGTTTCTGGCAGAGTTTCAGTAATGTGGATCTTGCGGATGAAGAGCCAGCTGGAGCGGAGCCGGGCGGTT[T/A]ATCTCCTCGCTGGAAATGTTACGCCAAATACATCAGCCATCAGCAGATCCTGCTCACGTTCCTGCCAGCCACGTTTACAGGTGCTTCATCTGTCAATACCACACCAATTATTAAAGCTCAATACCGTTATCTATCTGCACACAGCAGGAGAGTGATGGCAGTTTAATGCTTTTCATTGAGGCATATACTGCAAACAAGAAACTAACCCCACAGTTTAACCCAGCAGCATTTCTCCAAACTGAAGTTGTAATCTGAGGAATGTTTGGACGGTTTTATTTGGTGTGTCTGTAGCACTTATAAGTTGTACTCTTGAAAGAAATTATATGTATTTCTGATATTGCCACAGCCGTATCACCCTGCAGCCCAAGACCGGTTACTCACTGAAGCTAAGCAGGGCTGAGCCTGGTTAGTACCTGGATGGGAGACCACTAGGGAACACTAGGTTGCTGTTGGAAGTGGTGTTAGTGAGGCCAGCAGGGGGCGCTCAACCTGAGGTCTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa26654
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
ENSDART00000114701 Essential Splice Site 2945 3183 70 75
Genomic Location (Zv9):
Chromosome 6 (position 2408163)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 2480965
GRCz11 6 2606130
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGCAGCTCCATTTGAGGAGCAGACTGAAGGAGAGAGACACCTGCTCAGG[T/C]ACAGGATGCACACACATACACACAATACAGCACAGCATTAGTGTATCTCT
Long Flanking Sequence:
ACGGCATGAAGCCGCTACGCATGTCCAAGGCTGCAGTGTCCTCTGAGAACAGGAAGGGGGCGCCAAGTGCAGATCTGCATGAGTATGCGCTCGTTGCTCTCTGGAACAGGTGTGTTTTCCTCACTCCACTGTTAGTCTGTATACAAAGTCATCCTCTATTGACCTTAGTCTGCGATGTGGAAGTGCACTCGTTTTTCGTGATGGTTTTAGAACTTCCTATTCAGTTTACTATGGGCGAAATGACCAGGAATAATAGACGGTCAAACTGCTTGCTCTATAAACAACGACTGTACATGAAAATTATTCCACTATAGGGGTCCATTTTAAATACAGCATCAGTTTAAGCTGCTCATTACCACTTCTGCTTCTCGTTTAGCTCTGGCTCGTTTAAAGATCTGGAGGGTTTACGTCATCATGATGATTTTGACGTGTCTCTGCTGGTGTGTCATAATGCAGCTCCATTTGAGGAGCAGACTGAAGGAGAGAGACACCTGCTCAGG[T/C]ACAGGATGCACACACATACACACAATACAGCACAGCATTAGTGTATCTCTACATACTGGGGCTACAGTAGTCAATAATGATGATTTCATAATGACGGTTACATATACAACAATCAATAAACTGAGTAATCAGAGAGACATGATATAGCCTGGGTTGTTTAGATGGAGCTTGTTCACACATTTTTGTTGTAAAATATTGTAATATTAAATATAAAATAGACAAAATTACCTCTGGCATCATCATTATTATATTTCATTCAATTTCTTTTCGGCTTAGTCCCTAATAATCTGGGGTCGCCACAGCGGAATGAGCTTCCAACTCATCCAACATTTGTTTTTACACAGCGGATGCCCTTCCGGCCTCAACCCAACACTGGGAAACATCCATACACACCCATTCACACACATACACTATGGACAATTTAGCCTAGCCAATTCACCTGTACCGCATGTCTTTGGACTTGTGGGGGAAACCGGAGCACCCGGAGGAAACCCATGCGA
Associated Phenotype:
Not determined