ZMP

mkks

Ensembl ID:

ENSDARG00000016139

ZFIN ID:

ZDB-GENE-040426-757

Description:

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin [Source:RefSeq peptide;Acc:NP_956459]

Human Orthologue:

MKKS

Human Description:

McKusick-Kaufman syndrome [Source:HGNC Symbol;Acc:7108]

Mouse Orthologue:

Mkks

Mouse Description:

McKusick-Kaufman syndrome protein Gene [Source:MGI Symbol;Acc:MGI:1891836]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa9366	Nonsense	Mutation detected in F1 DNA	Not yet available
sa22346	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa9366

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 > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000011583	Nonsense	58	563	2	5

Genomic Location (Zv9):

Chromosome 13 (position 35696002)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	35348578
GRCz11	13	35474410

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CAGACTGAAACAAATACACAACAACGTTGGGGGCCACGTCTTRACAACTT[C/A]AACCTCAACAGCGCTTCTYAAACGAMTAGAAATGTCTGAGCCGCTTCTCA

Long Flanking Sequence:

AATACAATACAATACAATACAAACTGTATTGTAAATTAATCATAAGAACATTTTCATATTAGTCAATAATATTACTTTAAATTCATTAACATTAATTTAAATACTGAATAAATATAAATTTACACACTTTTACTCAAGTAAATATATAGACGCAACCATGGGCTAAAAATCTGCGTGCACAGATTCTGTGTGGGCCTACCTATAGGTATTCATATACCAGTTTAATCAATACTTAACCTTTTCTATAATACTATATACATACCATCTATTCTTGTCAAAGTAACTGACCTACATTGATTTAGCCAATTTTTTCAAATTAAGCCACAGCATGTCTCGCATTAGTAAGAAGAAGCCAGCATTATGCACAGACGAACCTCTTTCCAACAGTACCATCTGCCAAAAGATCACTCTATTAAGAAACATACTCAGCACAGCCTATGGACCTACCGGCAGACTGAAACAAATACACAACAACGTTGGGGGCCACGTCTTGACAACTT[C/A]AACCTCAACAGCGCTTCTCAAACGACTAGAAATGTCTGAGCCGCTTCTCAAACTGATCTCAACTGCTCTTCAACATCACACCACACGTTACAGTGACTCAGGGCTGTTTATGGGGATTTTTACACTCACACTTATTGAAAACACCAAAAAATATGGGCTTAGGACATCCACGGCAATCAAAGTGTACAAACACCTTGTGGAACAATGTAATGTGTATCTTAAAGGAGACTCTTGTGGCTGTAAGGTGCCAGTGGAGTTTAGCAGCTGTGATTCTCTTGTTGCATTGGCGCACAGCATGATCACCAGCAAACCAGCCTGCATGTTGGACAGCAGAGAGACGCAGCAGATCAGTTCATTGATCACACAGGCTTTTCTGTACTCCATCCCTTGCAACTCTTCTGGTACAGCCTGCTTTGGAAGAACGGTCACTATTGGCATTGAGGGTCAATCTGTGAACCATTCTTCAGTTTTTCCTGGACTGCTGCTGGATGTTCCTGAGA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa22346

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
ENSDART00000011583	Nonsense	224	563	2	5

Genomic Location (Zv9):

Chromosome 13 (position 35696499)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	35349075
GRCz11	13	35474907

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AATCTGTGAACCATTCTTCAGTTTTTCCTGGACTGCTGCTGGATGTTCCT[G/T]AGATGCTCCTGCCTGGAGATCTCGAAAGACTGGGAGATGGTCCGTTTAAG

Long Flanking Sequence:

CTTCAACCTCAACAGCGCTTCTCAAACGACTAGAAATGTCTGAGCCGCTTCTCAAACTGATCTCAACTGCTCTTCAACATCACACCACACGTTACAGTGACTCAGGGCTGTTTATGGGGATTTTTACACTCACACTTATTGAAAACACCAAAAAATATGGGCTTAGGACATCCACGGCAATCAAAGTGTACAAACACCTTGTGGAACAATGTAATGTGTATCTTAAAGGAGACTCTTGTGGCTGTAAGGTGCCAGTGGAGTTTAGCAGCTGTGATTCTCTTGTTGCATTGGCGCACAGCATGATCACCAGCAAACCAGCCTGCATGTTGGACAGCAGAGAGACGCAGCAGATCAGTTCATTGATCACACAGGCTTTTCTGTACTCCATCCCTTGCAACTCTTCTGGTACAGCCTGCTTTGGAAGAACGGTCACTATTGGCATTGAGGGTCAATCTGTGAACCATTCTTCAGTTTTTCCTGGACTGCTGCTGGATGTTCCT[G/T]AGATGCTCCTGCCTGGAGATCTCGAAAGACTGGGAGATGGTCCGTTTAAGGTGGTGCTTTTTGGTGTGTCACTGTCGGGGGATATTTCTGAGGTTGGCGATGTTGCTTTGGAGGTCCACAGAGGATTGAACCCCGAACGAGATCTCCTTCAGCAGCTCTTGAAGATTGGGGAACAGGTTGTAAAGGATAAAGTGAGTTTATTCGCATGCCAAAAAGTGGTACATCCAGTTCTTCAGCACTACCTGAGAGAGCATGAAGTGGTCGTGATCGAAAGGCTCGGACTCGCTCTGATGGAGCCGTTTGCCAAGATAACAGGTAAATATTTAGTTCAGGGCTTCATGGGGATTTGTTTTTGTGTAATTTAATATGAAGTTTTACTGTAATGGAGTTGTGAAATACAAGTGTATATACTGCATCTGGGGTGGCACAGTGGCTTAGTGGTTAGCACTGTCACTTCATAGCAAGAAGGTTGCTGGTTCGAGTCCCAACTGGGCCAGTTG

Associated Phenotype:

Not determined