Busch Lab

ZMP

ENSDARG00000088397

Ensembl ID:
ENSDARG00000088397
Human Orthologue:
KCNQ1
Human Description:
potassium voltage-gated channel, KQT-like subfamily, member 1 [Source:HGNC Symbol;Acc:6294]
Mouse Orthologue:
Kcnq1
Mouse Description:
potassium voltage-gated channel, subfamily Q, member 1 Gene [Source:MGI Symbol;Acc:MGI:108083]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa37979 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa24586 Nonsense Available for shipment Available now
sa10719 Nonsense Available for shipment Available now
sa6787 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa37979
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
ENSDART00000126521 Essential Splice Site 28 211 1 6
Genomic Location (Zv9):
Chromosome 25 (position 2340533)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 2299526
GRCz11 25 2389832
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACCATTGAACAGTATGCAGACTTCGCCACAGGATCTCTGTTCTGGATGG[T/C]GAGGCCAAAAAACAATTGCTCAAATTGGAAAATCCATCCATCAACATCCA
Long Flanking Sequence:
AAGAACCAGAAAGAACTGTTTTATAAATAAATAAATGAATAAATATGTATATATATATGTATATATGTGTATATATGTGTATATATATATTCTAAATAAAATTTAGATCTAAAATTGATTTGTCAGTGGAAAAGCCATAAGCCATAAGTCATTTCCACTGACAAATCAATTGTACATTTTTAAAACTGATATACTTGCTGAATATGTTGTTGAGTTTGAGTTACTGAATATGTGGCGAAATGTTGAGTTCGCCGCCGGTATACTGACACGTAAGTTGTCATTTTATTTGCTTTTGCGAGCTGCGAAGATTTGTGAGCAAGAATTATAATGTCAGATCTGCAGTGAATAGTTTGAAATGAATAATCAGGAAGAGCTGCAGTGATGCAATGTCCGGTTTGTCCTCCACAGGTTCCTGATGGTCCTGGTGTGTCTGATCTTCAGTGTGTTGTCCACCATTGAACAGTATGCAGACTTCGCCACAGGATCTCTGTTCTGGATGG[T/C]GAGGCCAAAAAACAATTGCTCAAATTGGAAAATCCATCCATCAACATCCATCCATTCTGTCTGTCTGTCTGTCTATCTCATCCGTCATGTCTGTTTATCTATCTATCTGTCTATCTGTCTATAATTAGCCAATTACACTGCAGCATATTAATATTATTATTATTATTATTATTATTATTATCATTATTAATATCATTGTTATTATTATTATTTTTTTAATTATTATTATTATTATTATTATTATTATTATTATTATTATTATTATCATTATTAATATCATTGTTATTATTATTATTATTATTAATATTATTATTATTATTATATAAAATTAATTTAAATGTTTGTGTATTCAGAAATGTACTGTTTATTTGTTTTGCACTAGGTGCAAACTTATAACAAGAAACTCACGTTTTTCTTTAGAAAACAAATAATAAGAAGAAAATAATAAAGTTTTTATTCTATTTTATGTTACCCTTGCTGAAAAGAAAAGTATAGATTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24586
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000126521 Nonsense 45 211 2 6
Genomic Location (Zv9):
Chromosome 25 (position 2338138)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 2301921
GRCz11 25 2393546
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGATTGTGCTGGTGGTGTTTTTCGGGACTGAGTATGTGGTGCGGCTCTG[G/A]TCTGCAGGCTGCCGGAGCAAATATGTGGGCATTAAAGGCCGTCTGCGCTT
Long Flanking Sequence:
GCTTTATAACTACTAATGAACATAATATCTTTATCAATCCAGTAGATACTGAAGTGTTACTGAAATGTAGTACTGCATAATGTATTGTTTCAGCACTGAAATCGCTATGTGCACATTTGTTATAGTCACATTGCATTATTTTGCTTGTTTTAAGAAAAATCCCAATAAATTTTTATATATTTGGACTAGAAACGAGACAAAAAACGTAAGAAAGAAAAGCATTGTTTGCATTGTGAGTATTCAGTTTCTGTTCCTGAATACTGTTAGACTTGGAAAGACGTTTAATGGAGCTATTCAAACCGTCGGGTGAAACTGTATTTATATTTCATTGTATATTGCAGAAAAATAAAATATCCCAAGAACGCATCAGGTTTTTCCAATATTGTGCAGTCCTAGTGAAATCTGTCTTTTTCTAGCCTTGAATATGGGTTGTGTTTGTCCTCTGTACAGGAGATTGTGCTGGTGGTGTTTTTCGGGACTGAGTATGTGGTGCGGCTCTG[G/A]TCTGCAGGCTGCCGGAGCAAATATGTGGGCATTAAAGGCCGTCTGCGCTTCATCAGGAAACCCATCTCCATTATAGGTGCTTATTGATTATAGGCTGCATGTTCATTTCTCAGCAAAAATAACATGTGGAGCAGAATGCAGTATTGGTGTCATGTGATGCGACATTACATTCAATTCTGGATATAAAGCCAACATTTGTATTTGGAATCTGGTTCTCTAATAAATCCAAAAATTGATTTGGAAAAGTGTTATGTTAAATAAGGTTCATTTCTAACGCTGGGACTTTTTTCTTAAGTTTTTTTTTTTTATTTTGTAAAAAAATATTTTTTTTTAAATTTGTTATTATTTAAAAAAATATATTTTTTACTTTTTATATTTATATAGATTAATTTATTCATTCATTTATTTTAATTTATTTTGCTTCATTTTAAAAAAAGTTTATTTTGTTTATTTATTATTATTTTTTGTTTCATTTAATTTTTTATTTCATTTTTTTATTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10719
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:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000126521 Nonsense 153 211 5 6
Genomic Location (Zv9):
Chromosome 25 (position 2331477)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 2308582
GRCz11 25 2400204
KASP Assay ID:
2261-9233.1 (used for ordering genotyping assays)
KASP Sequence:
ACAWCGGGTTCCKKGGTCTGATCTTCTCATCGTATTTTGTGTATTTGGCT[G/T]AAAAAGATGCAGTAGATGAAGAAGGGAAGACAGGTTTCTCCAGCTATGCT
Long Flanking Sequence:
ACCATAAAATAGATTTTAAAAATTGTGGCTCGTTGCATTTTAAAACAAGATCATACACTGTTAAAAAAACTAAATTAATATAAGCCATAATAACATCTGCTGTGTGTTTTTAAAAGAAAATACAAAGCAAAAACTTATATAAATTATATAAAAAACTTATATATATATATATTCTTTAATTTACATTAAATATAAGCAATATTAACATCCGTGGTGTGTGTTTTGAATGAAATATTAATAGAATTGAAAGTATAATTTTAATTAAAAGGACATAAAACAATCTACCTGACTTAAATGTTCATTTCTAGTCATCCTAACTTACATTAATCAGACTTAATAAATTCAACTTTGTATGACTTTGTATTACTGTATATATCTAATGGAAACGAATGTTAATCTGTTTATTTCTGAACTGTTTTCCTACATTTCAGGAGCTGATCACCACACTGTACATCGGGTTCCTGGGTCTGATCTTCTCATCGTATTTTGTGTATTTGGCT[G/T]AAAAAGATGCAGTAGATGAAGAAGGGAAGACAGGTTTCTCCAGCTATGCTGATGCTCTGTGGTGGGGCGTGGTGAGTTTATTCTCCTAAAATAATAAAAAACATTGATTGTTGGAGTTTTATGTATAAAAGAACATCTTGCTGGCTGGTTAATGGGAGAGTATACTGCAAAAATACAATTCTGACATTGTTTACTCATCCTTTATTTCATTTGATTGAACACAAAAGAAGATATTTTGAAAAATGTTGGAAACCGCTAACCATTCACTTCTTTAGTTGGAAAAACAAATGCTATGAAAGTCCATAGTTTTCATTATTCTTCAAAATATCTTCTTTTGTAGAAACAAACTCATAAAGGTTTGAAATGAGTAAAGAATGGGTAGAGAGGAGATTTTGAGAAATGTGGAAAACTAGTAACCATTCAATTTCATAGTAGGAAAAACAAATACTATGAAAGTCAATGGTTACCGGTTTTCCACATTTTTCAAAATATCTTCTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6787
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
ENSDART00000126521 Essential Splice Site 176 211 5 6
Genomic Location (Zv9):
Chromosome 25 (position 2331404)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 2308655
GRCz11 25 2400277
KASP Assay ID:
554-5318.1 (used for ordering genotyping assays)
KASP Sequence:
AGGGAAGACAGGTTTCTCCAGCTATGCTGATGCTCTGTGGTGGGGCGTGG[T/C]GAGTTTATTCTCCTAAAATAATAAAAAACATTGATTGTTGGAGTTTTATG
Long Flanking Sequence:
ATTAATATAAGCCATAATAACATCTGCTGTGTGTTTTTAAAAGAAAATACAAAGCAAAAACTTATATAAATTATATAAAAAACTTATATATATATATATTCTTTAATTTACATTAAATATAAGCAATATTAACATCCGTGGTGTGTGTTTTGAATGAAATATTAATAGAATTGAAAGTATAATTTTAATTAAAAGGACATAAAACAATCTACCTGACTTAAATGTTCATTTCTAGTCATCCTAACTTACATTAATCAGACTTAATAAATTCAACTTTGTATGACTTTGTATTACTGTATATATCTAATGGAAACGAATGTTAATCTGTTTATTTCTGAACTGTTTTCCTACATTTCAGGAGCTGATCACCACACTGTACATCGGGTTCCTGGGTCTGATCTTCTCATCGTATTTTGTGTATTTGGCTGAAAAAGATGCAGTAGATGAAGAAGGGAAGACAGGTTTCTCCAGCTATGCTGATGCTCTGTGGTGGGGCGTGG[T/C]GAGTTTATTCTCCTAAAATAATAAAAAACATTGATTGTTGGAGTTTTATGTATAAAAGAACATCTTGCTGGCTGGTTAATGGGAGAGTATACTGCAAAAATACAATTCTGACATTGTTTACTCATCCTTTATTTCATTTGATTGAACACAAAAGAAGATATTTTGAAAAATGTTGGAAACCGCTAACCATTCACTTCTTTAGTTGGAAAAACAAATGCTATGAAAGTCCATAGTTTTCATTATTCTTCAAAATATCTTCTTTTGTAGAAACAAACTCATAAAGGTTTGAAATGAGTAAAGAATGGGTAGAGAGGAGATTTTGAGAAATGTGGAAAACTAGTAACCATTCAATTTCATAGTAGGAAAAACAAATACTATGAAAGTCAATGGTTACCGGTTTTCCACATTTTTCAAAATATCTTCTTTTGTGTTAAACAGTGGAAACAAAAGCATAAAGGTTTGAAATGAGTAAAGGATGAGTAGAGAACATATTTTGAAAA
Associated Phenotype:
Not determined