Busch Lab

ZMP

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Ensembl ID:
ENSDARG00000037833
ZFIN ID:
ZDB-GENE-010919-1
Description:
microphthalmia-associated transcription factor [Source:RefSeq peptide;Acc:NP_571922]
Human Orthologue:
MITF
Human Description:
microphthalmia-associated transcription factor [Source:HGNC Symbol;Acc:7105]
Mouse Orthologue:
Mitf
Mouse Description:
microphthalmia-associated transcription factor Gene [Source:MGI Symbol;Acc:MGI:104554]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa11609 Nonsense Available for shipment Available now
sa43899 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa25188 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa11609
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000010248 Nonsense 92 499 2 10
Genomic Location (Zv9):
Chromosome 23 (position 758726)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 728061
GRCz11 23 740854
KASP Assay ID:
2261-7209.1 (used for ordering genotyping assays)
KASP Sequence:
CGGCAGATCTCCATCACACACAGCCCCGCCATCAAYGTCAGCCATCCCTG[C/A]GGCCCGCCCAGCGCCGCACAGGTGCCCATGGAGGTGCTGAAGGTAAAGCA
Long Flanking Sequence:
GGATTGTCTCCAGAACAAACCACTGTTATACAATGACTTGCCTAATTACCCTAACTTTACCCTAATTACCCTAGTGAAGCCTTTACATGTCACTGTAAGCTGAACACTAGTGTCTTGAAGAACATCTAGTCTAATATTATGTGCTGTCATCATGATGAAGAGAAAACACATCAGCTATTAGAGATAAGTTATTAACACTGTTATGATTAGAAATGTGCTGAATAAATCTGCTCTCAGTTAAACAGAAATTGGGAGAAATATATACAGAGGGGCTAATAATTGAGACTTCAACTGTATGTAACGTCCTCTGTGTTTGTGTGTGTGTGCAGTAATCCCTCAGAGCAGCAGCATGGCTCCTGTAAGCCCCCGCTGGGCTCGTCTCGAGTCCTGCTCCGCCAGCAGCTGATGCGTGAGCAGCTCCAGCAGCAGGAGCGCCGAGAGCAGCAGAAGCGGCAGATCTCCATCACACACAGCCCCGCCATCAACGTCAGCCATCCCTG[C/A]GGCCCGCCCAGCGCCGCACAGGTGCCCATGGAGGTGCTGAAGGTAAAGCAGCGCGCAGAAAGCTCATATCAAAGCACGTGTGAAATCAAAACTAGCCATAGTGATGTTGTGAGCTCACATTGCTAGTCCTGCGCTGAACAGTTCATCTGTGCATGTCATTAAGAACAAAACAATAGTTTGCCTCTGTAATCGAATATTGAAATCTGCAAATGCACTTCCTGTTTGAGGTCAGTTCAATTCTCAGGTCAGTCTGAGATAGTGGGCGGGGCTAACACACTTAACCACGCCCCTCCAGCTGTCAGTATGACATCAAACAGAAATGGTGAGCTGGAGGACTCTCTCCAAACACTTTTCCGCATCTTTCTGAATGACACGCCTACTTTACTGCATCCAATCAGCTCACAGTAGAATCAAACAAGCCACGCCCACTGCTTTCACATTTAGTATTGTGAAACTGCATCACAATATGAAAAAAATGGTCGCAGCTTCCAGTTCATGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43899
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
ENSDART00000010248 Essential Splice Site 180 499 3 10
Genomic Location (Zv9):
Chromosome 23 (position 740333)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 708472
GRCz11 23 721265
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAACAGTCCCATGGCCTTACTGACCCTCAACCCCAACTGCGAGAAAGAG[G/A]TGAGAGTGCTGACACTAGATATCTATCGCAAAATTATCGTTATCATGATA
Long Flanking Sequence:
CAGGCCAGAGAGGGAAAAAAACTTCAAAAAAGAAAACTCTCATTTATTAAAGACAAGAATAGCCTTCTACTAATGCAGCAACTTCCATTTTTCGTTTGATATTTGGCACCGGTTTATCAGGGAGTGATGATTTTGTTCTCTCTGTTCATTCACAAATGTTTTACACCAGTTTTGCGCATATCTTTGGATGGAAGCATGGTCAGTTTCAACATCAGAGCAGCACAGAAGTGAGAAACACACGTCCTGTGATTGTAATGTTTGTCTTCGTTTGTGCTCAGGTTCAGACTCATCTTGAAAACCCCACCAAGTACCACATCCAGCAGGCTCAGCGGCAGCAGGTGAAGGCGTATCTGTCCACCACTCTGGGAGGAAAGCAGGCGGTGAGTTTGCCGTGTCCTAGCCAGGCATCTGATCACGGGGGAATGCCTCCGGGGCCGGGAAACAGCGCCCCCAACAGTCCCATGGCCTTACTGACCCTCAACCCCAACTGCGAGAAAGAG[G/A]TGAGAGTGCTGACACTAGATATCTATCGCAAAATTATCGTTATCATGATAATAGTATGTGCCACACTCCGCTGTGGAGACGCCAGATTAATAAACGGACAAAGAAAATGAGTAAATGAATAAAATATTAGTGTGCAATATTTATTCATTTATTTTGTTTTCAGCTTAGTCCCTTTATTAATCCGGGGTCGCCACAGTGGAATGAACCGCCAACTTATCCAGCACGTTTTTACACAGCGGATGCCCTTCCAGCCTCATCTTTGGCAAAAGCTTATGCAGCATAACAAGCTGTTTTTAAAGTCTAGCAATCATTGACAATGAATGATAGTGGAAGTCTCGAGCCTAAGGTCTAAGGTCAATAGATCAACAAAATCCAGTCAGCTAAATGAATGATGTGTAAATAGGCAGCAGTATCATAAAGACGTTTCATTATCTGCTCATCATCATCCTGCAGCTTCACTTCAGTGTGAAACAGCTGCTGTAGACTGCGTCATGATCTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25188
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
ENSDART00000010248 Nonsense 193 499 4 10
Genomic Location (Zv9):
Chromosome 23 (position 739615)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 707754
GRCz11 23 720547
KASP Assay ID:
554-7887.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGATTCACAACAGATGGACGATGTCATTGACGACATCATTGGTTTGGAAT[C/A]AAGTTACAGTGATGACATCATGGGACTGTCGCTGGACCCCGGACTTCAGA
Long Flanking Sequence:
CCAGCACGTTTTTACACAGCGGATGCCCTTCCAGCCTCATCTTTGGCAAAAGCTTATGCAGCATAACAAGCTGTTTTTAAAGTCTAGCAATCATTGACAATGAATGATAGTGGAAGTCTCGAGCCTAAGGTCTAAGGTCAATAGATCAACAAAATCCAGTCAGCTAAATGAATGATGTGTAAATAGGCAGCAGTATCATAAAGACGTTTCATTATCTGCTCATCATCATCCTGCAGCTTCACTTCAGTGTGAAACAGCTGCTGTAGACTGCGTCATGATCTCACACACACACACTTACACACACACACAGACCGGCAGAAGTGTTAATAGATCCGGCAGAGTTTGAGAGCAGCTCAGTGAAACGCACAGCTCTAGCGCAGGATCTGGAGATGGATTGATGGATGGTGTTTTTGACTGTTGAGTGATGCGTCGCTGACTGATCACTGCTTCTGATTCACAACAGATGGACGATGTCATTGACGACATCATTGGTTTGGAAT[C/A]AAGTTACAGTGATGACATCATGGGACTGTCGCTGGACCCCGGACTTCAGATGGCAAACACGGTAATGACATTTACGCATTACATTACACTTGTATGTGTGTGTGTGTGTGTGTGTGTATGTGTGAGTATATATATGCAGCGGGGGAAATAAGTATTGAACACCTCACCTTTTTTCTCAGAAAACATATTATATTTGGTAACAACCAAAGACATCCATATATACAGGGAAAAAGTGTTGAACACATGAAGAAAGGAAGGTGTAGTTGGGCAGTGAAAGTCCAGACAGCAGCTGAAATCTGTCAGTAGTTCTTCAGCAAGCACTCTGCCCTTCCTCAGTGTAAATGAAGATCAGCTGCTTCAGTCCATGATCCAAAACACAGCCGAGGAGACTCTCGGATCAATCAAACAAAAAAGAAAGTAGTGATTTCTAAATTGAGTTTGACTTGTATTTGACAGTCTCTATTGAAGACAGGTCGGGGCTGCAGGCAGGCAGGTCAAGT
Associated Phenotype:
Not determined