Busch Lab

ZMP

mlphb

Ensembl ID:
ENSDARG00000062481
ZFIN ID:
ZDB-GENE-070803-2
Description:
Novel protein [Source:UniProtKB/TrEMBL;Acc:B8JI93]
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 8 alleles of this gene:

Allele Name Consequence Status Availability
sa14687 Essential Splice Site Available for shipment Available now
sa21486 Nonsense Available for shipment Available now
sa10656 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa14687
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
ENSDART00000090417 Essential Splice Site 182 579 4 13
ENSDART00000139725 None None 135 None 4
Genomic Location (Zv9):
Chromosome 9 (position 25049463)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 24205249
GRCz11 9 24016118
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCCACAGAGCCTCGAGACGATGACACGCACAGCATGCCTGAAGTTCACAG[T/C]GAGTAAAACAAAGTCCCATTCCTTTGTGATAWCAGACAATATTAATGTTG
Long Flanking Sequence:
TAGAATAACAACAATCAGAACAAAAATATTAATTTCTTAATTATATAATGTTCACTGTACAGATGAGTGGAAAATACTAACATAGCTTGTTGAATAGAAATGTTGGCACAGGGTTGTCATGGTTAACTAAAGCTACAATAGTTTTTTGCTTCTTAAAATAAATGTCAAGTGTGCATTTTTCACATAATTGTGTACAATGGCAATGGAATGACAATTAAAAGCAGAAGGTGACTTATGTGGAAAACACTAATTTTCTCAACAAAGTGACCCAGCAAAACCCCAGTAGCTTTTGATGTTTTCTGTTAGTAGCGCAACACAGAAAACTGAAAGAAAACACTATAAATCTGCTGCTTTCAACAGTTTCAACAGCTTCCTGTAGCCAATCACAGTTTGTTATCTGTTTCTTGTTGTTTTATGTTTAATTTTTCATCTGCCGCTGTTCTTCTCCGTCCCACAGAGCCTCGAGACGATGACACGCACAGCATGCCTGAAGTTCACAG[T/C]GAGTAAAACAAAGTCCCATTCCTTTGTGATAACAGACAATATTAATGTTGATGTCATGCAAGAATCTAAAGTAATCAGTGAATGTCTTTCATCTGTCCAAACAAGACAGCAGCAATCTGCTCTCACGTCATCTTTAATTTAATAAGGCAGAGAACAAAATGTCTGTGGAAGAAAAACACCTCGAATAGCCAGGATAAAAACTGAATATCCTTTTCTAGGCATAAACACTTAAGGTATTTTTTGTTGTCCTGGTTAAATTTAAAAATATATAATAACAATAAAAAACAGTAGTTCAGTTTTGCACCTGCCCTGTGTATATACTGTATTTCAAACGTAGTCAGTATACAAAACGTACTTAAAATAATACTGTGTAGGAAAAAACATTCATTTTCTATTCAGCTTAGTCCCTTTATTAATCAGACATCCCCACAGTGGAATGAACTTGCGACTCATCCAGTATATGTTTTACACAGTAGATGCCCTTCCAGCTGCAACTCATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21486
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090417 Nonsense 396 579 9 13
ENSDART00000139725 None None 135 None 4
Genomic Location (Zv9):
Chromosome 9 (position 25053289)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 24209075
GRCz11 9 24019944
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATTCTGAGCCGTTTGGAGCAGAAAATGACTTTGCCAATAATTGGGGGAT[C/A]AGTTGAACAGGTAAGTTAAACAGTTGTGCTGCCTAATATTTCTGTAAAAA
Long Flanking Sequence:
TGCAAAGTTACTTGTAAGTCAACAGAATGTCTGTCAAGATAAAGCGTAACCAACTTTTGTCTTTTGTTTGCTCTTTGTAGATGACTGCACACCCCACCTAAACCAGAGGTTGGCAAAGTCATGTTCCCTCTCCAAAATGAGCCTCTCTTCAGCTGGCAGCACCAACTATCACCTCCAGCGCGAGCTTTCTTACAGCCTGGATGACTCCGATGATGATGAGGATGATGATGAAGAAGAATCAGAGATGAATGTTATATACAGTCATGCCCTACATAGGGAGCCCTCACCAGATGAGGTTCCTCCACAGGTGCAGTCATACTTCTAATAATGGGGCTTCACGGCTTTCTTTCCCAAAATGTTCAGGTGTTTTTGAAAATGCAACAAAAACATTTATGCATCTCTATGACTTCAGATTATTGAGCTCAACAAGCGTATGTCAGCAATTGAATCTATTCTGAGCCGTTTGGAGCAGAAAATGACTTTGCCAATAATTGGGGGAT[C/A]AGTTGAACAGGTAAGTTAAACAGTTGTGCTGCCTAATATTTCTGTAAAAAAAAAAAACCTACCTTTTCTGGCTTAATTGGCCTTTAACTCAGGCATGGGATGAAAACCGTTTTCAAGGTACACTGCAGTTTGGAAAAGTCAAGGTTTTAAAACCACCAAAATTTTCTGTAATACCATTCCTAAGGTATGTGTAAGATTTTTTTTATTTACTTTTTTTTTGTTTGTTTGTTTTTTAGGACAACAGTATCTCCAGCAGAAAAGATTTCTAAAGATGCCATTTTAAATTGTTTAAATCTGTGTTTTTTGAAACTAACGAAGACAGCAAAAGTCAATGATTCATTTTCATTATTTTGCCTGACACATTTACTGTTCCAAAATATTTTAAATCTTTCAAAAAATAAAATAAATTGATTTCAAAGGGGGGGAAATCTTTGTTTTTACCCAAACATTTTACCCAAAATGATATATTTTAGAGCAGTAATCACAATACTGTGATACCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10656
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090417 Nonsense 487 579 11 13
ENSDART00000139725 Nonsense 43 135 2 4
Genomic Location (Zv9):
Chromosome 9 (position 25054356)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 24210142
GRCz11 9 24021011
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTTTTCAATTGTATACTCCAGAAARCAAAGCCGAATGCACACAAATCAT[T/A]AAAAAAGCAGAAGAGGGTGAGTTCCTTTGAGTTTAGTAACACAACTAGCT
Long Flanking Sequence:
ATGCCTATAACTTAACTACAGGACACAGTTTATTCAAATATCACACAGAGACTCTCCTGACTCCCTGTAGGTTGAGCAGAAAGCTGAGGATTTGTCTCCAGCTGATTTAGAGGAGCTTGAGCTTAGGAAAAAGCTTGATGAACTCACTGAAAAAATAAGCGACAAAGGCTTTTCATCTGATGAGGAAGATGCAATTAAATCACCAATGGCCTCTCCAAAGAAAAGTGCAGTTTACCAAGTTTCACCTATAAGAGGAGCTTCAGCTGGACTTGTCCGACCTGACTGGCCTCTTGAGGCTGAATGGGTGAGAGTACTCTGTGTACACATTTAACATACATCACTATACATGCTTAGACCTATTAAACGTGACATTTTATTTATATTCCCTTACCAATACTTCATGTTAATGGTGTGTGATTTTACCACCTTACTGTCCTGAATGATCTGCTATGTTTTCAATTGTATACTCCAGAAAGCAAAGCCGAATGCACACAAATCAT[T/A]AAAAAAGCAGAAGAGGGTGAGTTCCTTTGAGTTTAGTAACACAACTAGCTGTGAGCTGTCACAGCTGGAGGGTAAAGTTGCAATGGCAGCAGCCAGCGTCCAGAGCACTCAAAGTGGGGTACGTCACTTTAGTCCATATTCTTTCTTTTAACACTAACAAAATCTGTATTCTGTATTAATATGGAATCTTGACCTTTCTACCAAAAGTAAAAAAGTAGAAAAAAGTGACTTTTATTAACATTTTTAATAGTTTAAGGTGATATATTGCTTGGGTTGGTGTTGTGCAAAAACCTTGTAATAAACTGCAATTAAATGTTTTGTTATTTTACAGATTTTTTCTCTACATATTGCTTGTAGATTATTTCAAATTGTAAATGAAAAAAATATGAAAACTGTTAATTAACAGACATTTTAACAGTATTTAACAGATGTAAAAGTTGCATGTGTGACTTGAACTACTTTAGCTGACTTTCAAAAAACCTCCCAGTCTGTGAGCTCAA
Associated Phenotype:
Not determined