ZMP
kcnq1
Ensembl ID:
ZFIN ID:
Description:
potassium voltage-gated channel subfamily KQT member 1 [Source:RefSeq peptide;Acc:NP_001116714]
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 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa40998 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa27036 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa45295 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa38635 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa40998
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
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 |
|---|---|---|---|---|---|
| ENSDART00000083514 | Essential Splice Site | 127 | 655 | 2 | 18 |
| ENSDART00000083516 | Essential Splice Site | 127 | 643 | 2 | 17 |
| ENSDART00000125483 | Essential Splice Site | 127 | 485 | 2 | 12 |
Genomic Location (Zv9):
Chromosome 7 (position 50033671)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 48303907 |
| GRCz11 | 7 | 48576683 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACCATCGACGAGTATCAAGCACTGGCTAATAAAACACTATTCTGGATGG[T/C]GAGTCTGACAAAATGTTATTAAACTGAACTAAATCAATATGCTTCCTATA
Long Flanking Sequence:
AGTGACATTTAAAGGCTTAACTAGGTTAATTAGGTTAACTAGGCAGGATAGGGTAATTAGGCAAGTTATTAAATAACGATGGTTTGTTCTGTAAACTATCGAAAAAAATGTGATTAAAGGTGCTAATAATTTAGTCTCTAAAATGATGTTTAAAAAATTAAAAACTGCTTTCCTTCTAGCTGAAATAAAACAAATAAGACTTTCTCCTGAAGATAAAATATTATCAGAGATACTGTGAAATGTTCCTAGCTCTGTTAAACATCAATTGGGAAATATTTAAAAAAGAAAAAAAAATTAATAGGGAGGCTAATAATTCTGACTTCAACTGTATATATATATATATATATATATATATATATATATATATATATAAATTTTAATCTGACATATCTTTCTTTCCCTATGCAGATTCCTCATTGTGCTTTCCTGCCTGATCCTCAGTGTGCTGTCCACCATCGACGAGTATCAAGCACTGGCTAATAAAACACTATTCTGGATGG[T/C]GAGTCTGACAAAATGTTATTAAACTGAACTAAATCAATATGCTTCCTATAAGGTCTGTAATACACGCTGGCCTTGGATAATTAATTCTCTTTTGTCTCTGTTCCTTGACCTGTAAACCAGACCATTTAATTAGGAAATAGGCATATTGTATGGGGAACATTGATTATACTGAACATATGGCATTGAGAATCTGGTCCTCTGACACAAGATATGACTAAGGATTTAAAGATGATATTGATTTGATATTGATTGATACTGATGTTCATATTTAGCATAGCCTTTTATTGTTTATCTTGTTCTCCGTAGCGTTTGCTGACCTTAGTTTTGTCCAGCAGAGGGCAGTGGTTCATCACTTTTCATTTTCTGTTTGAAGTAAAAGTCTTGATGATGCCACTTTTTAATTAATGAATAAAAAACACACCTTTGCTTGTAAAACATGGTTATTAACATATACATTTTGTATTCCTAATAAAATAAAAGAGGAGCACTTAAAACTTTTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa27036
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000083514 | Essential Splice Site | 196 | 655 | 4 | 18 |
| ENSDART00000083516 | Essential Splice Site | 196 | 643 | 4 | 17 |
| ENSDART00000125483 | Essential Splice Site | 196 | 485 | 4 | 12 |
Genomic Location (Zv9):
Chromosome 7 (position 50049095)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 48319331 |
| GRCz11 | 7 | 48592107 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTATTGGCATTTGGCTCTAATGGCCAGGTATTTGCTACCTCTGCTGTCAG[G/A]TAAGGTTAATATAACAAATAAGTCACTGTGGTCTCTTTATACATTGTGGT
Long Flanking Sequence:
ATTTTACATGATGTCAAAGTCGAATCAATTAGTTCTTTATCCTCACACTGTTTTGTTCAAATAAATCTCACGTTATGTCTCACTTACAATAATTTCTCATTGTCACGAGCGCATAATATCACTAATATATGCCTTTAGTGCCCTTTTGTGTAAGCACAATGTGTCTGTCTCTTTCATTCTGCAGGAATTAGTGCTGGTAATGTTCTTTGGTGTGGAGTACGTGGTCCGTCTGTGGTCAGCTGGATGCCGGAGTAAATATGTGGGAATTCTGGGCAGGCTTCGCTTTGCCCGAAAGCCAATTTCTGTTATTGGTGAGTGTCTACAATGAAATCACTTTCACTTTTTGGGATGTGTTTACAAAGCCTAACTAGATTGTGTTGTTACTATGGACGTGTTTACATTTCTTTTGTTTTTGTTCTAGACCTGATTGTGGTGGTGGCTTCTATTATAGTATTGGCATTTGGCTCTAATGGCCAGGTATTTGCTACCTCTGCTGTCAG[G/A]TAAGGTTAATATAACAAATAAGTCACTGTGGTCTCTTTATACATTGTGGTACTGTGTTAATCAGGCCCTGTTTACACCTGGTATAAAATGGGTTTTGATCTTTTTGATCAAAAATAGATGGAGTCACATTCTCAGTTATACCTGGTACTAAATCTCTGTTGTGCCCTTTTAGACCTTTCTGTTTACCTTTTTTTTTAACTTTAAATCTACGTTTCGCAAGTTTAACTACTGTCTGTCTAGTCTGCCAAATCAGTTCAGTATAGAGTTTTTGATTTTACAGGTGGTGTGAAATTAAAGTATTTAATTGTGATGCTGTGTTCACACCAGACGTGGATAAAGCAGCAAGTGTGATTGATTTACATGTTAAGTCAATCCAAAGACAAGAATAGACATCCTGCGTCGTGTTTCGCATGACTGAGGTGGCACGAACGACGTGTTTTTTGCGAACTGCTTGAGTTGGAAAATCTGATTTGAGGGGACAGTTGCGCTGCGTTAACCAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa45295
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
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 |
|---|---|---|---|---|---|
| ENSDART00000083514 | Nonsense | 366 | 655 | 9 | 18 |
| ENSDART00000083516 | Nonsense | 366 | 643 | 9 | 17 |
| ENSDART00000125483 | Nonsense | 366 | 485 | 9 | 12 |
Genomic Location (Zv9):
Chromosome 7 (position 50054546)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 48324782 |
| GRCz11 | 7 | 48597558 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTTCGCCTTGCTGAACCCTGATTCTGCCACATACAAGTTATTTGTGAAA[C/T]GAAATCTCAGCAGTTCAGGGTCTAGCCCTAAATTAAAGGTAGGCTACCAA
Long Flanking Sequence:
ATTGGATCATGTTGAGTAAAGGGTGTTGTGTGTCAATGTCTTTTCTGCAGGTAACAGTAACCACTATTGGCTACGGAGACAAGGTTCCTCAGACTTGGATAGGAAAGACTATTGCATCATGTTTCTCTGTCTTCGCTATCTCCTTTTTTGCCCTCCCTGCAGTAAGTAACAGAGATTTAATAGCCAGAACAATTGTTCCTCGCACAGCAGGCCAGTGTATGGGAAGAATGATAGTATTTCCCCACAGGGAATCCTGGGCTCCGGTTTTGCTCTGAAGGTACAGCAGAAACAGAGACAAAAACATTTCAACAGGCAAATTCCTGCAGCTGCGAGTCTCATACAGGTGTCCCTCCTTGTGGTTTATAGATGTTAAATTGATTATTATTTGTCATTTATGAGGAAGGTCAGACCTTGTTTCTTCTGTTCTCATGCTGAAGGCGTCCTGGAGGTGTTTCGCCTTGCTGAACCCTGATTCTGCCACATACAAGTTATTTGTGAAA[C/T]GAAATCTCAGCAGTTCAGGGTCTAGCCCTAAATTAAAGGTAGGCTACCAAACTATTCTGAGATGCCTGCATAAATCTACAAGAACAAACTGTTTTCACACATATATGTACACTACATATACAGTTAAAGGCAAAATGATAAGTTCTCCAGTGAAATTTTAATTCTTTTTTCCAAAAGTTTTAATATATCCAAATGTTTAATGCAGTAAAGAAAATTTTTACATTATTTCCTATAATATTATTTCTTCTGATGAATGTCTTATTTCTAGATTGGCTGTAATAAAAGCTATTTGTTGTTTTTACAATTTTGTTTTTTAATATAAAAGGCCAATTACATTGTTCTTTCCCAAATGGTGCATCGTACTATGATAGTTCAGCCACAAGTTATGTCGTTATTTGGGAACTGAACTCAGAATTATTTTTTATTTTATGCCAAAAATATTAGAATTTGAAGTAAAGTATAAAGTATCATCTTCCATAAAAATATATCATAATTTACTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38635
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000083514 | Essential Splice Site | 378 | 655 | 9 | 18 |
| ENSDART00000083516 | Essential Splice Site | 378 | 643 | 9 | 17 |
| ENSDART00000125483 | Essential Splice Site | 378 | 485 | 9 | 12 |
Genomic Location (Zv9):
Chromosome 7 (position 50054585)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 48324821 |
| GRCz11 | 7 | 48597597 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATTTGTGAAACGAAATCTCAGCAGTTCAGGGTCTAGCCCTAAATTAAAG[G/A]TAGGCTACCAAACTATTCTGAGATGCCTGCATAAATCTACAAGAACAAAC
Long Flanking Sequence:
CTTTTCTGCAGGTAACAGTAACCACTATTGGCTACGGAGACAAGGTTCCTCAGACTTGGATAGGAAAGACTATTGCATCATGTTTCTCTGTCTTCGCTATCTCCTTTTTTGCCCTCCCTGCAGTAAGTAACAGAGATTTAATAGCCAGAACAATTGTTCCTCGCACAGCAGGCCAGTGTATGGGAAGAATGATAGTATTTCCCCACAGGGAATCCTGGGCTCCGGTTTTGCTCTGAAGGTACAGCAGAAACAGAGACAAAAACATTTCAACAGGCAAATTCCTGCAGCTGCGAGTCTCATACAGGTGTCCCTCCTTGTGGTTTATAGATGTTAAATTGATTATTATTTGTCATTTATGAGGAAGGTCAGACCTTGTTTCTTCTGTTCTCATGCTGAAGGCGTCCTGGAGGTGTTTCGCCTTGCTGAACCCTGATTCTGCCACATACAAGTTATTTGTGAAACGAAATCTCAGCAGTTCAGGGTCTAGCCCTAAATTAAAG[G/A]TAGGCTACCAAACTATTCTGAGATGCCTGCATAAATCTACAAGAACAAACTGTTTTCACACATATATGTACACTACATATACAGTTAAAGGCAAAATGATAAGTTCTCCAGTGAAATTTTAATTCTTTTTTCCAAAAGTTTTAATATATCCAAATGTTTAATGCAGTAAAGAAAATTTTTACATTATTTCCTATAATATTATTTCTTCTGATGAATGTCTTATTTCTAGATTGGCTGTAATAAAAGCTATTTGTTGTTTTTACAATTTTGTTTTTTAATATAAAAGGCCAATTACATTGTTCTTTCCCAAATGGTGCATCGTACTATGATAGTTCAGCCACAAGTTATGTCGTTATTTGGGAACTGAACTCAGAATTATTTTTTATTTTATGCCAAAAATATTAGAATTTGAAGTAAAGTATAAAGTATCATCTTCCATAAAAATATATCATAATTTACTACTGTAAATATATTTTAAAAAAATTAACAGTTAAAGTGCA
Associated Phenotype:
Not determined