Busch Lab

ZMP

mkln1

Ensembl ID:
ENSDARG00000025576
ZFIN ID:
ZDB-GENE-030131-3942
Description:
muskelin [Source:RefSeq peptide;Acc:NP_997859]
Human Orthologue:
MKLN1
Human Description:
muskelin 1, intracellular mediator containing kelch motifs [Source:HGNC Symbol;Acc:7109]
Mouse Orthologue:
Mkln1
Mouse Description:
muskelin 1, intracellular mediator containing kelch motifs Gene [Source:MGI Symbol;Acc:MGI:1351638]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa40245 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa13831 Essential Splice Site Available for shipment Available now
sa11959 Essential Splice Site Available for shipment Available now
sa31383 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa40245
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
ENSDART00000028820 None None 202 None 6
ENSDART00000036354 Essential Splice Site 276 750 8 18
ENSDART00000137736 Essential Splice Site 255 729 8 18
Genomic Location (Zv9):
Chromosome 4 (position 10774218)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 11710845
GRCz11 4 11709694
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGACACGCACCACTTCTTATTGTTTTTTTTGTTTTTAACTTTCTGATTA[G/A]GCGATGGTGATGATAACAGGCCGGGCATGAGAGGAGGTCATCAAATGGTC
Long Flanking Sequence:
TGCCGTACGCTCATACGTTAAGAATACGGTCAATAGGACTTTGGAATAAGTGTCGTCAATACTGTTATAAATCTTGTTTTAATAATATGTGAGCTGAGAAAAGTTTTTACACACTTCATGTTTAAAGTTGTTCTCAGTAGATCATATTTATACACACTCTCTTGAGTGGTCACAGTGTAAATTTGCGGTAATTAGAACCTAATGTACACTCGGATTGTTTTCCGCTCAGGGAGCATGCATTAGCAAATTAACGTGCACACTTGACTCTTTATCTGCTCTCTTCCAGATGGTTTGTTTAATCAGTACATCAGCCAGCAGGATTATAAGCCACGCTGGAGTCAGATCATCCCCAAATGTAACAAAGGTACGACAGCAGTCCGCTGTGGCACTGAATCTGGACACTGGACTCCAGGAAGTCTGCTGCTGTATTAATGACTTACCGACTTCTTCCTGACACGCACCACTTCTTATTGTTTTTTTTGTTTTTAACTTTCTGATTA[G/A]GCGATGGTGATGATAACAGGCCGGGCATGAGAGGAGGTCATCAAATGGTCATTGATGTTCAGACAGGTACGTTTTACATCACGCTGCTCATTTGCAAACTTTCTGATTGGGTGGTTATCATATCACTGTTTAGCTTGTCCTGTCTTGCTCATAGTGGAATGCATGCCTTTTTGCTCTGCTGTTGCAAGTTAATGGCTGTTTTAAGCGTGCGTGTGAATTGGTGAGCTTGTTGTTTGAAGAACAGTCGATCCCGCAGCTCTGTGCATTCAGACTGACCTCGAGTAACCCACTCTACACGGCTCAGCTGACGCTCAATAGCTCAAACAACTGTCTCTGCTTATCACCATGGCTACATCAGCCTTTCAACCTCACCACACAGCTGCCTTTCAAGAAAATGACGATTTATAAGCACTTAAAGCATGTTTTTTATGCTTCGGTTTCATATTGAATCTCTTACAAAGGAGTAAGACGGCTCACCCACTCACTCTAGCTTTCTCTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13831
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000028820 None None 202 None 6
ENSDART00000036354 Essential Splice Site 480 750 11 18
ENSDART00000137736 Essential Splice Site 459 729 11 18
Genomic Location (Zv9):
Chromosome 4 (position 10777689)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 11714316
GRCz11 4 11713165
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGCCGGAGGAYATCCAATCTCGCATCGGACACTGCATGCTCTTCCACACG[G/A]TGCGTCTCCTTAGTAATGACCCATAAAGTGATACATTGAKGCTTGTTAGG
Long Flanking Sequence:
GAGGCAGATCTACACGCTGGGCCGATATCTGGACTCCTCGGTCAGAAACAGCAAGTCTCTGAAGAGTGACTTCTACTGCTACGACATTGACGCAAACACGTGGACCCTCCTGAGTGAAGACACATCCGCTGATGGAGGACCCAAACTTGTGTTCGACCACCAGGTAAATTGCACAACCTACAGTATATGCAGGATTTATCCTCCATACCATCAGGAGTCTCTCTTTTACAGATTTATGATGAACACCTATTAAAATAATCTTCCTTTTGCGTCCTCAGATGTGCATGGACTCTGAGAAGCACATGATCTACACGTTTGGTGGTCGGATACTGACGTGTAATGGCAGCGTGGATGATGGCAGGACGTCTGAACCTCAGTTCAGTGGGCTTTACGCGTATCACTGTCAAGCTGGCAGCTGGAGCCTACTCCGAGAAGACTCGTGTAACGCAGGGCCGGAGGACATCCAATCTCGCATCGGACACTGCATGCTCTTCCACACG[G/A]TGCGTCTCCTTAGTAATGACCCATAAAGTGATACATTGATGCTTGTTAGGTCACTGCTTCTAGTGCTAATTACTCCATCAGATGCAAGAGCAACTAATAAACGATGCTAATATACACACTCATAGTCTGCTGCAGTGCTAACGTGAAATTATCATTCTTAACTTGGGATGTTGTGTGCTTGGACTGTTTTGCACATCAGAGATTAGATTAAATGGATAGCTATGTAAATAGTGGTCAAATAGAGCTGCACAATATATTGTTTTGGCATCATTGTGTGCATCTGCAATAGTCGCATCGCGAGATATGCAATGTTAAGTCTGGATTATACAGCAGTCAACATTTGAAGTGGATCAAAACCTTTAATCGAAGTTGTCTTAAATCTACTGAGCAAAACCCATTCTTGTCTTAGGACAATTTTGGAAAACTGTTTTGATCCTCTTCAAGTGTTGACTACTGTAGTTGATTAGGAGCCACAGAACACATGAGATTTGTAGAGTCAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11959
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000028820 Essential Splice Site 25 202 1 6
ENSDART00000036354 None None 750 None 18
ENSDART00000137736 None None 729 None 18
Genomic Location (Zv9):
Chromosome 4 (position 10788450)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 11725077
GRCz11 4 11723926
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGATCTGCTGCTGYTTTCTGTCACTTTTTGTTTATTTGACTCGATTTGG[G/A]TGGGTGCGTGTGTKTGTACACTTTGCTTGGACGGTATGCGCTGTTTAGTG
Long Flanking Sequence:
TTTATACTATGGAAGTCAATGGTTACAGGATTTCAGCTTTCTTTAAAATACCTTCTTAAGTGTTCAAAACTTATAAAGAATTGGAACCACTGTTAAGAGAGTAAATAATGAGTAAATATTCATTTTTTAGTGAACTATCCCTCAAATATTTTACACAAAAACTCAAAAGATCAACATTTTTCATTTATTTTTTGCTGATATTTACAACGGGTGCCAATATTCGTGGAGTAATCTGTAAAATAATAAACAAAGCGTCAGTAAAAAGATTTCACAGGCATGTCTGACCTTCAGAAAGGAGTCAGTGGTTCCCCAACAGGAACAGAATGTTCTCTTCTCGCTTATGTGTGCGTGTATTAAATGTGTTTTTCACTTAAACGGGGGAGAGAAACCTTTTGTTCTGTACACTAATTGAAGCAGTTGGCTTCTAGAAAACTCAGTCAGTCTTTCTCTTGGATCTGCTGCTGCTTTCTGTCACTTTTTGTTTATTTGACTCGATTTGG[G/A]TGGGTGCGTGTGTTTGTACACTTTGCTTGGACGGTATGCGCTGTTTAGTGTGAAAGACTAACTGTGTGTTTGTTTACAGGTCCTGTGTTTATAAGAACGACCAAGCGGTGAAGGAAAACCCCACTAAGGCCCTGCAGGAAGAGGAACCTTGTCCTCGGTTTGCTCATCAGCTTGTCTACGATGAACTCCACAAGGTAATGTTGATCATGGTTTTAATCTAACCCCAAGTTTCAATCTCAGCTCTCCTCAAGCAGGGTTATTATAGTTCAGTGCTTTTTAACAACATTCCTGGAGCCCAAAAACACTGCATGATCTGCATGTCTTCTTAATCAAACACACCTGATTCAACTCATCAGCTCGTTAGCAGAGACTCCAGGACCTCAAATGATTGTGTGAGACAAAGGAGACGTGCGTGAAATTAACTATCATTTTTGTCATCTGAAGTTAACTTGGCTGGAAAAAATGGACATGAAATAATAAGTAAGGTAAAACTTTAGTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31383
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:
T > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000028820 Nonsense 29 202 2 6
ENSDART00000036354 Nonsense 577 750 14 18
ENSDART00000137736 Nonsense 556 729 14 18
Genomic Location (Zv9):
Chromosome 4 (position 10788542)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 11725169
GRCz11 4 11724018
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTTTAGTGTGAAAGACTAACTGTGTGTTTGTTTACAGGTCCTGTGTTTA[T/G]AAGAACGACCAAGCGGTGAAGGAAAACCCCACTAAGGCCCTGCAGGAAGA
Long Flanking Sequence:
TTAAGAGAGTAAATAATGAGTAAATATTCATTTTTTAGTGAACTATCCCTCAAATATTTTACACAAAAACTCAAAAGATCAACATTTTTCATTTATTTTTTGCTGATATTTACAACGGGTGCCAATATTCGTGGAGTAATCTGTAAAATAATAAACAAAGCGTCAGTAAAAAGATTTCACAGGCATGTCTGACCTTCAGAAAGGAGTCAGTGGTTCCCCAACAGGAACAGAATGTTCTCTTCTCGCTTATGTGTGCGTGTATTAAATGTGTTTTTCACTTAAACGGGGGAGAGAAACCTTTTGTTCTGTACACTAATTGAAGCAGTTGGCTTCTAGAAAACTCAGTCAGTCTTTCTCTTGGATCTGCTGCTGCTTTCTGTCACTTTTTGTTTATTTGACTCGATTTGGGTGGGTGCGTGTGTTTGTACACTTTGCTTGGACGGTATGCGCTGTTTAGTGTGAAAGACTAACTGTGTGTTTGTTTACAGGTCCTGTGTTTA[T/G]AAGAACGACCAAGCGGTGAAGGAAAACCCCACTAAGGCCCTGCAGGAAGAGGAACCTTGTCCTCGGTTTGCTCATCAGCTTGTCTACGATGAACTCCACAAGGTAATGTTGATCATGGTTTTAATCTAACCCCAAGTTTCAATCTCAGCTCTCCTCAAGCAGGGTTATTATAGTTCAGTGCTTTTTAACAACATTCCTGGAGCCCAAAAACACTGCATGATCTGCATGTCTTCTTAATCAAACACACCTGATTCAACTCATCAGCTCGTTAGCAGAGACTCCAGGACCTCAAATGATTGTGTGAGACAAAGGAGACGTGCGTGAAATTAACTATCATTTTTGTCATCTGAAGTTAACTTGGCTGGAAAAAATGGACATGAAATAATAAGTAAGGTAAAACTTTAGTACTTTAGTTTGAGTATCTACATTCAGTATTAACTAGTGGCTTATTATCTGCTTATTATTAAGATATTGACTGTTTATTAGCACTTTTAAAGTTC
Associated Phenotype:
Not determined