myrip

Ensembl ID:
ENSDARG00000038814
ZFIN ID:
ZDB-GENE-080123-1
Description:
A kinase-anchoring protein [Source:UniProtKB/TrEMBL;Acc:A8T6P4]
Human Orthologue:
MLPH
Human Description:
melanophilin [Source:HGNC Symbol;Acc:29643]
Mouse Orthologue:
Mlph
Mouse Description:
melanophilin Gene [Source:MGI Symbol;Acc:MGI:2176380]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa30053 Essential Splice Site Mutation detected in F1 DNA During 2018
sa37835 Nonsense Mutation detected in F1 DNA During 2018
sa44098 Nonsense Mutation detected in F1 DNA During 2018
sa14099 Nonsense Available for shipment Available now
sa7514 Missense Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa30053
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082301 Essential Splice Site 362 838 8 11
ENSDART00000113420 Essential Splice Site 362 1118 8 15
ENSDART00000137257   None 300 None 7
Genomic Location (Zv9):
Chromosome 24 (position 10921896)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 11009299
GRCz11 24 11149666
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCATTATCACTTCCTGGATGGAAGAGTGTTGACCGCCTTGAAAACTCCAG[T/A]AAGAGCATGTAAACAGACAAACACAACTGTAAGATGAATTCAACTGCACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37835
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082301 Nonsense 430 838 9 11
ENSDART00000113420 Nonsense 430 1118 9 15
ENSDART00000137257   None 300 None 7
Genomic Location (Zv9):
Chromosome 24 (position 10917758)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 11005161
GRCz11 24 11145528
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCTCAGATTCAGACCCTGAGGATCAGGGTGGATGGGGCGCTGCCTTGTTA[C/T]AGTTTCGCAGACGTCTCTCTGATGAAACATACTATACTGACTCTCAACAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44098
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082301 Nonsense 813 838 10 11
ENSDART00000113420 Nonsense 813 1118 10 15
ENSDART00000137257   None 300 None 7
Genomic Location (Zv9):
Chromosome 24 (position 10913571)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 11000974
GRCz11 24 11141341
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGGTCGAGAAGAAACAGGAAAGACAGAAAGAAATGGAGAAACAACTGAAA[C/T]AAGAACAAGAGAGACAATCAGAGATTGAGCGAGACTTAGAAAAGAAAAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14099
Current 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:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082301 Nonsense 830 838 10 11
ENSDART00000113420 Nonsense 830 1118 10 15
ENSDART00000137257   None 300 None 7
Genomic Location (Zv9):
Chromosome 24 (position 10913520)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 11000923
GRCz11 24 11141290
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAGAACAAGAGAGACAATCAGAGATTGAGCGAGACTTAGAAAAGAAAAGG[A/T]AAAGCATACGAATGGAAAAAGAGAAATTAGTGAGTGKGAAATCCAGAGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7514
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
C > T
Consequence:
Missense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082301   None 838 None 11
ENSDART00000113420 Missense 938 1118 11 15
ENSDART00000137257   None 300 None 7

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 24 (position 10899687)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 10987090
GRCz11 24 11127457
KASP Assay ID:
554-4289.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCTGGTGGATGTGGAGCAGAAGTAYTCTGCTGCGTCTTTATGCAGCATCA[C/T]CACAGAGGTTCTGAAGGTCCTAAACGCCACAGAGGATTTGCTTGGTGARG
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

OMIM

More OMIM information for MLPH

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