Busch Lab

ZMP

kcnh5a

Ensembl ID:
ENSDARG00000043220
ZFIN ID:
ZDB-GENE-061106-2
Description:
potassium voltage-gated channel subfamily H member 5 [Source:RefSeq peptide;Acc:NP_001038263]
Human Orthologue:
KCNH5
Human Description:
potassium voltage-gated channel, subfamily H (eag-related), member 5 [Source:HGNC Symbol;Acc:6254]
Mouse Orthologue:
Kcnh5
Mouse Description:
potassium voltage-gated channel, subfamily H (eag-related), member 5 Gene [Source:MGI Symbol;Acc:MGI

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa23671 Nonsense Available for shipment Available now
sa10289 Essential Splice Site Available for shipment Available now
sa39274 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa43412 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa23671
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029689 Nonsense 173 1001 5 12
ENSDART00000103532 Nonsense 173 1093 5 12
ENSDART00000131859 Nonsense 172 1000 5 12
Genomic Location (Zv9):
Chromosome 20 (position 20188591)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 20216758
GRCz11 20 20116431
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TAACCAACAGCCGAGGTACGGTTCAGCAGCTCACCCCCATGAACAAGACT[G/T]AAGTCAGTCACAAGCATTCACGACTGGCAGAGGTGAGTGTCATATACTGT
Long Flanking Sequence:
CCCTGTTCTTCAGCTTTCATGTCTCCACCAAACCATAATGCTTTCATTTTAAAATCATAAAGAAATATTATGCCTTTGTGAAGAGCCCCCAAGGGTTCATAACACTCTCTGTTCTTACAAAGTGAATAGAGGAGGAAAGAGTTACAACACACTGTTGGCAAAAACATTAGAAATGGGACATCGGTACACAAAACATGATCTTTTTTGGAAGGAAGAACAATTTTCACTAACATCAGCAGTTGAAGGATCCTCAGTGGAAATCACTCTGGGCCGTTGCCTTCAGCTGAGGAGTGTGATGCTAGCTGTACTTCTAGTTGTGTGGAACAGTGTGTTTGAGACTGCATTAAACAGGACCAAAGGTAGAAAAATGACAAAAAAGTCTTCATAGTTGCTGACACACCATTTTTGTGGTTGCAGGATGGACCAAGTTTGCCAGGCTGACCAGGGCATTAACCAACAGCCGAGGTACGGTTCAGCAGCTCACCCCCATGAACAAGACT[G/T]AAGTCAGTCACAAGCATTCACGACTGGCAGAGGTGAGTGTCATATACTGTACATTTTTTTCATCCTTGTTGAGCCTTTCCATTGACTTTCATACTAAAGCCATTTCTACACGTACACAGGAATTTTTATAAACTGGGTTTTCCCTTTTTTCAATAATAAGAATTATTAATGACTATAATACTTAATTATAATAATTAGGTATTACTTATTAATGCAAATGTGAGAAAAAAGGCAGATTAAATGTTATGGATTTGCTTGATTGTCATCTTCTGCATTGGGTGTGAACCAAGCGGCAACTTCCCACTCTCCCTCATGAAGCCAATATGGATTTAACTGAAACTGCAATTCATCCGCTCGCCTTTGGGGGGTGGCTCCAGGAAATCCAGATGTCCACTGCATGCAATGCTAAACTGGCTAATGTTAAAGCTGATAACAACGTCTTTACAGTCTGGTACAAAAGATCCTTTTGGTGTAAATAGCTAATATTAACTTTCATGACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10289
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
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029689 Essential Splice Site 524 1001 8 12
ENSDART00000103532 Essential Splice Site 555 1093 9 12
ENSDART00000131859 Essential Splice Site 523 1000 8 12
Genomic Location (Zv9):
Chromosome 20 (position 20099156)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 20127323
GRCz11 20 20026996
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTACATCGTGTCCACGTGGGCCATGACTAAAGGCATAGACACAGARAAGG[T/C]GTGTGAATCTTCAACTCTTCCTTTTATTGGTGTACCTTACTCGTATACCA
Long Flanking Sequence:
ATAATAATATGTTCATGGATACTGTCGCTGAATAAAATAAGTGTTTAGTTAGAATAAAATAAGTGTTTAATCAGATAAATATGGTCTATAACTGGAATTTAACTGTGAAAGTCCAGAATTCTCCTGTTGTATGTTTCCTCCACTAGCATCAATGAGAAACTCTCTTCAGCCAGCGATTCACCATCATTTCTCTTCAAATACTTCTAGACACTCTCGTCTCCGTCTAGCCTTTGATTTATATAAATAGTAGCTTTCAGTGGTACTCTAGAGTTGATTCTCCCCTTTCTGTTGATTTGCAGCTCTTCTGTACGCAACCATCTTTGGAAACGTGACCACCATCTTTCAGCAGATGTACACCAACACCAACCGCTACCATGAGATGCTGAACAACGTGAGAGACTTTCTGAAGCTCTATCAGGTGCCTAAAGGGCTGAGCGAGAGGGTTATGGACTACATCGTGTCCACGTGGGCCATGACTAAAGGCATAGACACAGAGAAGG[T/C]GTGTGAATCTTCAACTCTTCCTTTTATTGGTGTACCTTACTCGTATACCATAGCGAACAAAATGTATAGGATACTACAATGTTGTTGAAGTAACAGGTAAGCACATGTTCTAAAACGCTTCAATAGTTTTAGGAAACATTGTACAACTTGTTAGAGTTTTGTCAACACAGGTATATTTTAAAAATCATAAATATATCTAAAATATTATATTGAGGTGGTGTTTAGAAAGAAAATAGAAAGTCAATTTCCTGCTAACATTTGATTGGACATTTTTTTTATCAGCTAAACAAATATTACTGTAATTCACCATAAAGGTCATCAGTTTACCGCTCTTTTCTGCTATGAGCAAACACATTTATATGGAGCATTTTAAAGCTGCGTCAATCAGCTGATCTGTCTGCAAGCTGAGATATGAGTGATCCGCTGATGGATTGACTGATTGGCATAGCTTTGAAACACTCATATCATCTGAGCACATGAACAACAATCAGCTGTGAATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39274
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029689 Essential Splice Site 675 1001 None 12
ENSDART00000103532 Essential Splice Site 706 1093 None 12
ENSDART00000131859 Essential Splice Site 674 1000 None 12
Genomic Location (Zv9):
Chromosome 20 (position 20038251)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 20066418
GRCz11 20 19966091
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGACAAACTAAAGTGCTACCCAGATTTCTTATACATCTTTATGTCTTCAC[A/T]GATTGTTTTCCGCAAGATTGCAGATGTAAAGAAGGAGGAAGAAGAGAGGA
Long Flanking Sequence:
TTGATTTTAAGATCAAATTAATTTAACTATGGAAGATCAAGTTGTTGCATGTAGTGTGGCTTTGCTCTACGTATTCAATATGGGTCCATGTCTGAAATATAAAAGCAGCAATACTGTTTAGTCCTGTCATTATAGTTAACGTGAGACTTACCACTCACGTTGACGAACACATGCCTTGCCGCTCCCCGCTGCTTATCAACACCGGCTCCCATTGAAAACGAATGACTTCTGGCTTTTTTGATGCTCTTGTCGCCTTTTGGTGTGAATGCACAGTAAGGCTATTACTGTAGCTCAATAAGCTCCTAATTAGCTGCTTATTAAAATGTATTAAGGTTGTAGTTTGGTTTAGGTATTAGGTAGGATCAGGTATGTAGAATAAGATCATACTTTATAAGTACTAAAACAGTTAATATCTTTATAATATGCAAGTAATAAGCCTTTAGTTAATTGTGACAAACTAAAGTGCTACCCAGATTTCTTATACATCTTTATGTCTTCAC[A/T]GATTGTTTTCCGCAAGATTGCAGATGTAAAGAAGGAGGAAGAAGAGAGGAGACACCAAAAGAATGAGGTGACATTGTCTATCCCTGTGGACCATCCTGTCCGCAAGCTCTTCCAAAAATTCAAACAGCAAAAGGAGATGCGCACACAAGGTCCATCCCAGTATGACCTGGAGAGGAACCAGTTTCAGGTAGAACACCACCTCCATCCGCTGTCCCACCAGCTTCATCAGCAGCAATATCAGCCCCAGTACCAGGGACATCATTCCCTTCAACACCAACACGTGGCCCCTATGCAAAATGGGGCCCCTGGCTCGGGAAATGGTAATGGTGGTTCTTGTGTCGTGACTGTCTCACAAATAACCCCAATACAGAGTGCCCTAGCCTACGCTCAGACTGAGGAAACGAACATGAGTGAAGGTCATGAGGCTATGGAGCTCAAGCCCAACTTTGGTGCAGAGGACTCGAATTGTCTAAAGGTAACAAGTCCTGTGAAACCCAGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43412
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
ENSDART00000029689 Nonsense 832 1001 12 12
ENSDART00000103532 Nonsense 924 1093 12 12
ENSDART00000131859 Nonsense 831 1000 12 12
Genomic Location (Zv9):
Chromosome 20 (position 20037595)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 20065762
GRCz11 20 19965435
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGGGGGATGTATCTCAGCCCCTGAATGCAATCTCAGAGGACAGGAAGGGC[C/T]AGGAAGCAGAGGGTGGTGGGTCCCAGAAAGAGGGTCCCAGTGGAAACAGT
Long Flanking Sequence:
CCCAGTATGACCTGGAGAGGAACCAGTTTCAGGTAGAACACCACCTCCATCCGCTGTCCCACCAGCTTCATCAGCAGCAATATCAGCCCCAGTACCAGGGACATCATTCCCTTCAACACCAACACGTGGCCCCTATGCAAAATGGGGCCCCTGGCTCGGGAAATGGTAATGGTGGTTCTTGTGTCGTGACTGTCTCACAAATAACCCCAATACAGAGTGCCCTAGCCTACGCTCAGACTGAGGAAACGAACATGAGTGAAGGTCATGAGGCTATGGAGCTCAAGCCCAACTTTGGTGCAGAGGACTCGAATTGTCTAAAGGTAACAAGTCCTGTGAAACCCAGAGCAGGAAAGGGACGAGGCTGGATGCGTTTCCATAACATTGCATCCGGATCATCTCCAATGCTTCCACTGGAATTAGAGAAACAGCCACAGCAGAAGGAAGAGGAGTGGGGGGATGTATCTCAGCCCCTGAATGCAATCTCAGAGGACAGGAAGGGC[C/T]AGGAAGCAGAGGGTGGTGGGTCCCAGAAAGAGGGTCCCAGTGGAAACAGTAACAGTAGCGAGGAGACTGATGAGAATAGTGCCCTACACAAGACTGATTCTTGTGACAGTGGAATCACAAAGAGTGACTTGCGTATTGACCGAGTAGGGGATTCGCGTAGCCCTTATGATAGGTGCTCAATGGAAAGGAGCCCTTTTGATCAGCCTAGTCCAGGAGTGGTAGACGTGACTCTTCGGGGGATTCACTTTCAGCCTGTTCCAGACCAGGCTGTGCTTCAGAACAGCTTGTACGAGGCAAAGCAGGAACTGAAAGGTGACATCCAGACATTAAACAGCCGACTAGCGGCTCTGGAGGACCAGGTAGGGGAGATTTTAAGACTTCTCTCCGAAAAAAGGAAACCTTCTCCACCTTCCCAGACCTCCTCGCCAAAAACCACACTTGAGTGCCAGGACATATTTGCTGTTTCTCAGCCCGTCACTCCAGAGACGGAGGGCGATGAT
Associated Phenotype:
Not determined