Busch Lab

ZMP

mlc1

Ensembl ID:
ENSDARG00000063026
ZFIN ID:
ZDB-GENE-050419-145
Description:
membrane protein MLC1 [Source:RefSeq peptide;Acc:NP_001098409]
Human Orthologue:
MLC1
Human Description:
megalencephalic leukoencephalopathy with subcortical cysts 1 [Source:HGNC Symbol;Acc:17082]
Mouse Orthologue:
Mlc1
Mouse Description:
megalencephalic leukoencephalopathy with subcortical cysts 1 homolog (human) Gene [Source:MGI Symbol

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa10246 Nonsense Available for shipment Available now
sa32194 Nonsense Available for shipment Available now
sa13089 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa10246
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
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Mutation:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000091729 Nonsense 69 391 2 12
ENSDART00000130141 Nonsense 73 395 1 11
ENSDART00000141893 Nonsense 70 392 1 11
Genomic Location (Zv9):
Chromosome 18 (position 14523075)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 14968493
GRCz11 18 14937005
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCAGCTGGATCAGCCTGGCCCGCTACATCCCTGCTTCAGCTACAGAGTCT[G/A]GCTTTACAGYGTGGTTGTAGGGGTAAGCAGATTTGCACCACCTTGACTGA
Long Flanking Sequence:
CAGCTCATATTGAATAAGTATTTTGAACAAACACCAGATGTCTTTTTTTGAGATATAGGTCTGTGATTGGATGACTTTGAAATGTTGACCTTGTAAAGTCAAATGTGTTGAATGTTAATTTAAGGCTTGGATGCTGAGGTAATTTCATTAAAAGGATCACATCAGTCTGTCAATACTCTGTAAGCCATATACTTTACCTCCTTCATAAATGTTTGCCTTCAGTGAGTTTTTCTCACCAAGTCGATACATGCGATTTAAACAGATTGTGTCTCTAGGGTGCCTCATGGATTTGAGGATGCAGCGAGAGGAGGCATCGGCTCAGGAAGTGTTCAGCTATGCCCAGATGTCCACCCTGGAGAGAAACAGCGGTGTAGGAACGCTGAGTCGGCATCTAGAGCGCGAGCGATTGGAGAGAGACGGCTACACGGTGGATGTCAGAGCCAGTGACCTGCAGCTGGATCAGCCTGGCCCGCTACATCCCTGCTTCAGCTACAGAGTCT[G/A]GCTTTACAGTGTGGTTGTAGGGGTAAGCAGATTTGCACCACCTTGACTGACAGACTTAGCACACTGATTTTCTCAGTCGTCTAAATGTGTCTATCTGTATCTGACCCTCAGAGCAGCTTGCTGATAGCGTCGGCTTTCTCGCTCTACATGGGTAATGTGTTTCCTGCTGCAATGGATTACCTGCGCTGTACTGCTGGATCTGTGAGTGTTTCACCTTGGGTTTGTTCGGGAAGGATTCATAGGGCCATTTGTCAGACTGACATTCGTGTATGTGTTTGCTTTTGGCTTGCAGAGTATACCAGCAGCAGTGGTGAGCTTCGCCATTGCCAAGAACAGACAAGTCGCAGTAAGTGAACCATTGTTTTTTTTCAGTAAGTACAGAGAAATGAACTCTGTCTACCTCAAGGAGCCATTGAATGAAAATCTGGATATATCTATGCATAGATGAATAATAAGACATAAGCATACCGTGATCCACAAACACCACTGTTTCCTCATTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32194
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000091729 Nonsense 212 391 7 12
ENSDART00000130141 Nonsense 216 395 6 11
ENSDART00000141893 Nonsense 213 392 6 11
Genomic Location (Zv9):
Chromosome 18 (position 14518242)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 14963660
GRCz11 18 14932172
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGAAGGCCCAATGATTGTGACCCAAACATCGTTCCCCACTCGTCTTTTC[A/T]AGGCCTTCGCCGTGAGTCGCCTACAAATGAGATTACGTGTGTGTGTGTGT
Long Flanking Sequence:
ATGTTAGTTTCTTATTTTCTTCTTTTTTGTGTGTGTTATTATTTAGATCACTGATTCTGCATGAAACATACACTCATTTGTGATTTTGGGGGGAAAAAATCATTATGCTAAATGTTTTTTGTCATTTTTATATTTCTCTAGTTTTAGTTTATTTGGTTTAGTGTTTTTAATAAATTAACTTTAGCCTTTAATATTTCAAAGATTCCTCAGAATTATATATTAATTTTATTAATGTTTATGTTACAAGTTATGTCAGCTTCAATGTACAATTTGCATAATAATTGCATAATATTTTGATGCTGCTTCCTAGATTCCAACTAAAGCAAGATATCATCGCCATGCGAAATGTCTATGATTTACAATAATTGTCTGCAGCTTATGCAGTTTACATTTTACATGCTCTCCCTCTTTTCCTCATTGCTCTCATCCATCTTTTTCTCCAGCCGGTGTCTGAAGGCCCAATGATTGTGACCCAAACATCGTTCCCCACTCGTCTTTTC[A/T]AGGCCTTCGCCGTGAGTCGCCTACAAATGAGATTACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCGTCACTGTATATTCACACTGTTTCTCCAACATAGGTAATTGAGCTCATAGTGGGCATCGCTGCAGTTTTTGGAGGAATTATTGCCCTCAATTTGGGCGCTCTTCTCCCAGAGCCTTACCTTTCTGTTACCTTCTTCTGGATTCTGGCAGCGGTGAGATTGGTTCATTTTATTAAATACTAGAACTGATTATTGTAACCAGCGTGGTTCATTTTTTCTTTCTTATGTGATACAGTGTTTCCCCAGTGCCATCGCCAGCCATGTGGTGGCAGAAAATCCCAGCAAAAGTCTGGTGAGTCTCCATCAGGATCTCTCTCCAGCAATTATGAGCAGTGCAATCGAACGTCCCTGGAGCATGTTCACCTTTCTCATTCATTCACAGTTGAAGTCAAAATGATTAGCCCTCTAATTTTTTCCTTTTTCAAATATTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13089
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000091729 Essential Splice Site 273 391 9 12
ENSDART00000130141 Essential Splice Site 277 395 8 11
ENSDART00000141893 Essential Splice Site 274 392 8 11
Genomic Location (Zv9):
Chromosome 18 (position 14517879)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 14963297
GRCz11 18 14931809
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CAGTGCCATCGCCAGCCATGTGGTGGCAGAAAATCCCAGCAAAAGTCTGG[T/A]GAGTCTCCATCAGGATCTCTCTCYAGCAATWATGAGCAGTGCAATCGAAC
Long Flanking Sequence:
AATTGTCTGCAGCTTATGCAGTTTACATTTTACATGCTCTCCCTCTTTTCCTCATTGCTCTCATCCATCTTTTTCTCCAGCCGGTGTCTGAAGGCCCAATGATTGTGACCCAAACATCGTTCCCCACTCGTCTTTTCAAGGCCTTCGCCGTGAGTCGCCTACAAATGAGATTACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTCGTCACTGTATATTCACACTGTTTCTCCAACATAGGTAATTGAGCTCATAGTGGGCATCGCTGCAGTTTTTGGAGGAATTATTGCCCTCAATTTGGGCGCTCTTCTCCCAGAGCCTTACCTTTCTGTTACCTTCTTCTGGATTCTGGCAGCGGTGAGATTGGTTCATTTTATTAAATACTAGAACTGATTATTGTAACCAGCGTGGTTCATTTTTTCTTTCTTATGTGATACAGTGTTTCCCCAGTGCCATCGCCAGCCATGTGGTGGCAGAAAATCCCAGCAAAAGTCTGG[T/A]GAGTCTCCATCAGGATCTCTCTCCAGCAATTATGAGCAGTGCAATCGAACGTCCCTGGAGCATGTTCACCTTTCTCATTCATTCACAGTTGAAGTCAAAATGATTAGCCCTCTAATTTTTTCCTTTTTCAAATATTTGCTAATTTTGGTTCTACCCAGGTTTTGGAAAATATTTTTTTAACAGTTTAGTTATGTTTGATTTTCTTATTAAACCTGAACCCCTGTTGGCATTTTTTGGAACCAGCCCCGGAAATATTGTGCTTGAAGAAGAAATATGTAGAGTTATTGGTTTTACCACAATATTGGTTAGGCCAGGGGTCACCAATCCTGGTCCTGGAGGGCCGGTGTCCCTGCAGGGTTTAGCTCCATCTTGCCTCAACACACCTGCTTGGATGTTTCAAGTATACCTAGTCATACCTTGATTAGCTTGTTCAGGTGTGTTTGATTAGGGTTGGAGCTAAAATCTGCAGGGCACCGGCCCTCCAGGAACAAGTTTGGTGA
Associated Phenotype:
Not determined