ZMP

LOC568267

Ensembl ID:

ENSDARG00000056050

Human Orthologue:

KCTD17

Human Description:

potassium channel tetramerisation domain containing 17 [Source:HGNC Symbol;Acc:25705]

Mouse Orthologue:

Kctd17

Mouse Description:

potassium channel tetramerisation domain containing 17 Gene [Source:MGI Symbol;Acc:MGI:1920094]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa42010	Nonsense	Mutation detected in F1 DNA	Not yet available
sa42011	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa42010

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
ENSDART00000078476	Nonsense	138	214	4	6

Genomic Location (Zv9):

Chromosome 12 (position 20152166)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	18934010
GRCz11	12	19055884

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CCCTGTGTTTCTCATACAGCAGGTACCGCCGAAGCATGTGTATCGGGTGT[T/A]GCAGTGTCAGGAAGAGGAACTGACCCAGATGGTGTCCACCATGTCGGACG

Long Flanking Sequence:

ATAATTCATTTCTTGCACTGTCTTCAGTTTGCAACATTATTTAGTTGCAAAAAAGGCATAGTAATAAAAATCTGTAATAAAATCGACATTTTGTTAAAAAGAGTGTGTCTGTGCCTTCAGGTGTGCTGGAGGAGGCAGAATTCTACAACATCACACCGCTGATTAAATTAATCAAAGAGAGGATTCTTGAACGCGACTCAAAGGCCACGCAGGTATGAGCAAACCTTTATCGAGCCTCCAATACAGTGCATTTGCTTCCTTCTATCTGTTATTTTTTTCCCAGTACTATATTTCAGTTGATCTCTTATTCTACTGTACATTTGTGACTATATTTGTGTGCTTATGCAACAGCCATCAGTCCTCCGCCCACTCTCGCTCTTTTATTTGATTTTTTCTCCATACTCTCCTATTGGCATCATCCCACTGCATTTCTTGCTCGCACTGTTTTCACCCTGTGTTTCTCATACAGCAGGTACCGCCGAAGCATGTGTATCGGGTGT[T/A]GCAGTGTCAGGAAGAGGAACTGACCCAGATGGTGTCCACCATGTCGGACGGCTGGAAGTTTGAGCAGGTCAGCGTGCGCGCCTGCCGAAAACCCCGCCCCGGACTGCTCTGGACTGTGGGTTGGACTGACACGGAGTTGATATCCCTTCCCCTGATCCTAATGCTCCCAGTGTCCAATTCTCCCCTCAGATTCAGAGTCCAGTAATGTAGCTAAAGTGTCAAAATAAACTTTTGGATTTTTTTATTTAAAGGGATTTTACAAGGTCAGTTGCACCAATTTTTCCTAATAATATTATGGTTTTTTAAATGGCAGACTATGGCTAGACTACTACTCAGTAGGTACTGCATTTAAATTTGAATTTACTGCTCGACCGTTAGAAAGTGCTTTCTATACAGTATGAATTTGAGCAGTATGAAACTCATACATACTACATCTACTATTTGATCATGATAGCATAACCTACACGCATTAGTTGTGTCGATTCACTCCCATTTATGAA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa42011

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:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000078476	Essential Splice Site	160	214	4	6

Genomic Location (Zv9):

Chromosome 12 (position 20152234)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	18934078
GRCz11	12	19055952

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AACTGACCCAGATGGTGTCCACCATGTCGGACGGCTGGAAGTTTGAGCAG[G/A]TCAGCGTGCGCGCCTGCCGAAAACCCCGCCCCGGACTGCTCTGGACTGTG

Long Flanking Sequence:

AATCTGTAATAAAATCGACATTTTGTTAAAAAGAGTGTGTCTGTGCCTTCAGGTGTGCTGGAGGAGGCAGAATTCTACAACATCACACCGCTGATTAAATTAATCAAAGAGAGGATTCTTGAACGCGACTCAAAGGCCACGCAGGTATGAGCAAACCTTTATCGAGCCTCCAATACAGTGCATTTGCTTCCTTCTATCTGTTATTTTTTTCCCAGTACTATATTTCAGTTGATCTCTTATTCTACTGTACATTTGTGACTATATTTGTGTGCTTATGCAACAGCCATCAGTCCTCCGCCCACTCTCGCTCTTTTATTTGATTTTTTCTCCATACTCTCCTATTGGCATCATCCCACTGCATTTCTTGCTCGCACTGTTTTCACCCTGTGTTTCTCATACAGCAGGTACCGCCGAAGCATGTGTATCGGGTGTTGCAGTGTCAGGAAGAGGAACTGACCCAGATGGTGTCCACCATGTCGGACGGCTGGAAGTTTGAGCAG[G/A]TCAGCGTGCGCGCCTGCCGAAAACCCCGCCCCGGACTGCTCTGGACTGTGGGTTGGACTGACACGGAGTTGATATCCCTTCCCCTGATCCTAATGCTCCCAGTGTCCAATTCTCCCCTCAGATTCAGAGTCCAGTAATGTAGCTAAAGTGTCAAAATAAACTTTTGGATTTTTTTATTTAAAGGGATTTTACAAGGTCAGTTGCACCAATTTTTCCTAATAATATTATGGTTTTTTAAATGGCAGACTATGGCTAGACTACTACTCAGTAGGTACTGCATTTAAATTTGAATTTACTGCTCGACCGTTAGAAAGTGCTTTCTATACAGTATGAATTTGAGCAGTATGAAACTCATACATACTACATCTACTATTTGATCATGATAGCATAACCTACACGCATTAGTTGTGTCGATTCACTCCCATTTATGAATTCTATCGTGGTGCATCATGGATACACGTAGCATGCATTGGATGCACAGTTTAGAATTTCGCCCGTAG

Associated Phenotype:

Not determined