Busch Lab

ZMP

LOC795916

Ensembl ID:
ENSDARG00000058848
Human Orthologue:
MCOLN1
Human Description:
mucolipin 1 [Source:HGNC Symbol;Acc:13356]
Mouse Orthologue:
Mcoln1
Mouse Description:
mucolipin 1 Gene [Source:MGI Symbol;Acc:MGI:1890498]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa38370 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa33083 Nonsense Mutation detected in F1 DNA Not yet available
sa19939 Nonsense Available for shipment Available now
sa39982 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa38370
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081796 Essential Splice Site 200 565 4 13
Genomic Location (Zv9):
Chromosome 3 (position 6707936)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 6132259
GRCz11 3 6018500
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATCGACCCAGTTAACGACACGTTCGACATAGACCCTCATGTTATTACTG[G/T]TGGGCAAAAAACAAATTAATGTTAATTTAATGTCACACAAACCAGTTCAT
Long Flanking Sequence:
TGATGCTCAACTCACACACATCTGTTAAAATCTCAAAAAAAGTACTCGAGGGTTTCGTGAACCTTTAAAAACACATGCAAATGATAAACCTTCACTTTATTATGATTGAACTTAGCCGTGGCTCCACAGATCACGTGTTCTGTGGCTCCTGGTCAACTATAATCCAGACTCATCATTGCAGATCTTGCGACTCAATTATTGCAGATGCGCATATTACGATATCGTTACTGAAACCATATATTGTGCAGCCAGAACAAACCACTATCCTATAAGCCAGAGTGAAATTAGCTGTTTGTTTATTACATTATTATGCTTAACATTTGACTCTCTCTCTCTCTTTCAGTATTTGATTCTGTCCCAGACGTCTGTCGGCAGGTACGCGTATGTTCCAGGAGTGGGTCCGAACAGCAGCGCCCTCTATCTGTGCCAACGGTACTTTAAGAAGGGCACCATCGACCCAGTTAACGACACGTTCGACATAGACCCTCATGTTATTACTG[G/T]TGGGCAAAAAACAAATTAATGTTAATTTAATGTCACACAAACCAGTTCATTCTGCTTCGAATCTGCAAGCTGACATTTTGACTCTATTAGACCCTTTTTTACAAGATATAAAACTAATCTCTGATGTCTCTAAAGTGTGTGTGTTTGAATGTGTGTTTCGGCTCAAAATACCACAGCAATAATGTTTTTTAACTTTCTGAAACTGACCCTTTTAGGCTTTGGTCCTAATTGTGGTGTTTAAGTGACTGTCTCTTTAAATGCAAATGAGCTTGTGCTGTTTTCAAAAGAGGGCGGAGCTACAAATCCCTTTGTGTCAGCATAGTGGCAGATTCAAAAACAATACTAACGTGCTAATGAGGGAGAGTTGATGTCACTAATTACTGGGGCTTTCCCCACCTGATGACACATGCAAAGGGAGAATGTCAATCAAAGTGTGTCTGCAGACTGCTTTTATCAAGACTAATTATAAACAATACAATTAATATACTTTATCATAAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33083
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081796 Nonsense 403 565 10 13
Genomic Location (Zv9):
Chromosome 3 (position 6695177)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 6119500
GRCz11 3 6005741
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAGTATCCTGATGGGAACCTCCACTCTGCTGGTGTGGGTCGGGGTCATT[C/T]GATACTTCAGCTTCTTTCAGAAATATAACGTGAGTTCTGATTTTTTTTAA
Long Flanking Sequence:
CAGAGTAGGTCTATCTGGCCAATCAGAGCAGAGATAAGATGTCTGACCAATCAGAGCGGAGTAAGTTGGAAAGTCAGGGTTTAAAAAGACGATTTTGGACGGATGTCGTGATAACAGCTGATGCGGCTTTTTGCTATCTTTCATCATTAAAACAGAGTAAGGTGGAACGTCTATTTTGATTTAATGTTGATTTGTGTTGGCAGGAGTTGGTGTGTTATTTCCGCGTGTCTCTGGGTCGTTCTGTGAGTCTGGGTGACCGTCTGGAGTTCATCAACGGCTGGTATCTGCTGCTCATCATCAGTGACGTCCTCACCATCATCGCCTCCTTCATCAAGATCGCCATCGAGACCAAGGTGAAGCGCGCTTTGAGTCTGTGTGTTTGAGATCTGGCTGTGTTCGAGGAGCTGACGGTTGTGTTTGCGGTGTAGAATCTGTCCTCGTATGACGTCTGCAGTATCCTGATGGGAACCTCCACTCTGCTGGTGTGGGTCGGGGTCATT[C/T]GATACTTCAGCTTCTTTCAGAAATATAACGTGAGTTCTGATTTTTTTTAAATGTTTATTTTGTGTGTATATATCCAAGTTAGGGCTGCGAGATTCTGGCTAAAATGAGAATTGCTATTTTTTTTTTGTTTAAAGTCAAGATCATGATTTTCTCACAATTTTGTAGATGTATAATAAAGGTTCTTATTAGTAGGCTATTATTATTGTTATTCACAAACATATGGTAAAATAATTGTAATAATAATATATAGGGATGTAACGGTATTGTAAATACCGTCATACCGCAATATAAATTTTTTTCGATATTACCGTAGTCGCATGACTCGGTAAAACTATAGGTCTTCTGAGAAAATTTGCTCAGGCGAATGAAGCGAACGGGAGGTAGCGAAAACTACAATACCCATCAGCCCATGCTTGACCATCATCCCTTGCGGTCCGTTGTCGCTACAGATCCAGTAATGCGGAAATGGAGTGTGCTGCTAGAAGCGGGGATGAAAAAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19939
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081796 Nonsense 411 565 10 13
Genomic Location (Zv9):
Chromosome 3 (position 6695151)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 6119474
GRCz11 3 6005715
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGCTGGTGTGGGTCGGGGTCATTCGATACTTCAGCTTCTTTCAGAAATA[T/A]AACGTGAGTTCTGATTTTTTTTAAATGTTTATTTTGTGTGTATATATCCA
Long Flanking Sequence:
AGCAGAGATAAGATGTCTGACCAATCAGAGCGGAGTAAGTTGGAAAGTCAGGGTTTAAAAAGACGATTTTGGACGGATGTCGTGATAACAGCTGATGCGGCTTTTTGCTATCTTTCATCATTAAAACAGAGTAAGGTGGAACGTCTATTTTGATTTAATGTTGATTTGTGTTGGCAGGAGTTGGTGTGTTATTTCCGCGTGTCTCTGGGTCGTTCTGTGAGTCTGGGTGACCGTCTGGAGTTCATCAACGGCTGGTATCTGCTGCTCATCATCAGTGACGTCCTCACCATCATCGCCTCCTTCATCAAGATCGCCATCGAGACCAAGGTGAAGCGCGCTTTGAGTCTGTGTGTTTGAGATCTGGCTGTGTTCGAGGAGCTGACGGTTGTGTTTGCGGTGTAGAATCTGTCCTCGTATGACGTCTGCAGTATCCTGATGGGAACCTCCACTCTGCTGGTGTGGGTCGGGGTCATTCGATACTTCAGCTTCTTTCAGAAATA[T/A]AACGTGAGTTCTGATTTTTTTTAAATGTTTATTTTGTGTGTATATATCCAAGTTAGGGCTGCGAGATTCTGGCTAAAATGAGAATTGCTATTTTTTTTTTGTTTAAAGTCAAGATCATGATTTTCTCACAATTTTGTAGATGTATAATAAAGGTTCTTATTAGTAGGCTATTATTATTGTTATTCACAAACATATGGTAAAATAATTGTAATAATAATATATAGGGATGTAACGGTATTGTAAATACCGTCATACCGCAATATAAATTTTTTTCGATATTACCGTAGTCGCATGACTCGGTAAAACTATAGGTCTTCTGAGAAAATTTGCTCAGGCGAATGAAGCGAACGGGAGGTAGCGAAAACTACAATACCCATCAGCCCATGCTTGACCATCATCCCTTGCGGTCCGTTGTCGCTACAGATCCAGTAATGCGGAAATGGAGTGTGCTGCTAGAAGCGGGGATGAAAAAGAGCTGGAAAACTCTAAAGCGGGTGTTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39982
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081796 Nonsense 530 565 13 13
Genomic Location (Zv9):
Chromosome 3 (position 6681311)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 6105634
GRCz11 3 5991875
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTTGTTGTGTTTGTGTGTTTGTGTGCAGCAACAAACTCAAGACGTGCCG[C/T]AGGTTTCTGAACTGCACCGCTTCATCGCCGAGTGCACAGACACGCCCACA
Long Flanking Sequence:
CTTTGCACTTAACAAACTAAATTAATTATTTATAGGCTAATTGATGTCTGTGTGTAAAGATTTCCCTATCTACGAGAGCAAAAGCGAAAGTGAACTTACTTTACGTCATGTAAATAGCGAATGCACTTATGGCGCGAGGCAGCTGGCTCTTAAAGGTAATGGGAGATGAGACTTTGATTGGTTTATTCTCAAAACACACCTATAACTCGTTAAGAAAATAAACTCAACCCTTTTAGACCATGCGCAAAGCGGATTTTCCCGTCCTTATATTTTCTATAATCCTTATAAAATATGGATTATGACACGCCCTGAATGTGTTTGCACCCTGCGCTTTCTGTTTTGCGCATGGACCGTCAAAATAAAGCCTAATATGTTAGTTTATTTAAAAAGAGATTAGTCTTTCTCATAGTCCATTTTTAAAGATGTGATCGTCAGAAGTGTACAGTCCTCAGTTGTTGTGTTTGTGTGTTTGTGTGCAGCAACAAACTCAAGACGTGCCG[C/T]AGGTTTCTGAACTGCACCGCTTCATCGCCGAGTGCACAGACACGCCCACATCCGGAAACTTCCGCAGCCCGGAGCCGTCCACCTGCTCGCTCTTCTGCTGCTTTAGCTAGACTCAGACGGTGCGTCCCAAATCGCATACTTCCCTACTTTATAGTATGTAAAAAAACAAAGTAGTAAGTTTGAATTTATAGTATTGGAACAGTAGATGAGAAGTACCCGGATGATCTACTACTACTGCAGAGATTCTGAAGTACGCATCCTATGGACACTTTACTATCCCATGATGCCACGGGAGAGGATTTAAGAATGCAAGCAGGTATGTGATGATGACAACATGGCGGATGTAGTACATCAGAGTTACTTTCATACTCCTCACATTCACACTATATACAGCAATGGAATATTTTCATGGAATATTGTCCCTGAAGCATACAATCACACCGGTGTGATCATCATTGGGTGGTTCCTGAAGCTTACAATCACACCGGTGTGATCATCAT
Associated Phenotype:
Not determined