Busch Lab

ZMP

dsc2l

Ensembl ID:
ENSDARG00000039677
ZFIN ID:
ZDB-GENE-031116-55
Description:
Dsc2l protein [Source:UniProtKB/TrEMBL;Acc:Q08BK3]
Human Orthologues:
DSC1, DSC2, DSC3
Human Descriptions:
desmocollin 1 [Source:HGNC Symbol;Acc:3035]
desmocollin 2 [Source:HGNC Symbol;Acc:3036]
desmocollin 3 [Source:HGNC Symbol;Acc:3037]
Mouse Orthologues:
Dsc1, Dsc2, Dsc3
Mouse Descriptions:
desmocollin 1 Gene [Source:MGI Symbol;Acc:MGI:109173]
desmocollin 2 Gene [Source:MGI Symbol;Acc:MGI:103221]
desmocollin 3 Gene [Source:MGI Symbol;Acc:MGI:1194993]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa36971 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa8668 Nonsense Mutation detected in F1 DNA Not yet available
sa36970 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa36971
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000100060 Essential Splice Site 189 934 4 16
Genomic Location (Zv9):
Chromosome 20 (position 7462375)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 7297768
GRCz11 20 7287647
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGCGTTGTTGAGAATGCCAGTCCTCCTTTTCCAAAGGACGTCGAGATGG[T/C]GAGAAAGTAAAATAAATTGGTCTAAAGTGACCATGCTAGTGTGTGCCAGG
Long Flanking Sequence:
GGTCTCTGACAGCATTATCACCTATTTGCTAATAACAAGGTGATTATTTTTAAACTAATCACACTCTGCGGAATAATAACCTGGCCTTACTGTATTTTTCACAGTGACTCTCAATGGCTGTACGGCCATACCTGTGTCCTTCACATCCAGCGACCCTGACTTCACTGTAAATACAGATGGAAGCATTGTTACACTTCGCTCTTTGGTGATCTCAACAAAGAGGTTCTCTGTTCTGGTGCAGGACAACAGCGGCCTTGACTGGAGGGTGGAGATTATCTTGTCTTGTAAAAATGAGGTAAAACTACAACCTGCCTACAACCTGGCAACTCTAAACGATCTACCATAGATCAGCAGCATGAGAGATGTTTCTCTATGTTCTCTTTAGGATTCTCAAAAGTCGGGCAGTGTGGCTCAGAAGCGTGCTAAGAGGAGATGGAGACCGTTGCCTTTCAGCGTTGTTGAGAATGCCAGTCCTCCTTTTCCAAAGGACGTCGAGATGG[T/C]GAGAAAGTAAAATAAATTGGTCTAAAGTGACCATGCTAGTGTGTGCCAGGACCAAATGTGTTTGCACCGTAATTTCTGGAGCTTGATTGGGAATCATACTGGAGAGCTGAACAGTTTATTTGGTTATTTCAGTTATTTGAGTCACAAGACCATCATCGCAACTGCTAAGTTCATGTTTTCTTATCAGTCAAGCAGCTAGCATAAACATTTAAAACAGTTCAAGTATTTAAAACGAGTTCTGTGGAATGAAATTTGTTTCAGTATTTCACAAACAAATATAGCATTTTTTTTAAACAAACACAATCTGCTTTGCAGAGTCACTCGACTCGCAAACAAAAAGAAAGCACTTTGTCTGTTGACCAAAAACCCAAAGGTGTTAGCAAATGAACATATTGCATTTACATGTATAATTGAATTTATTCAGTGATGCACTGGCGCAGTAGGTAGTGCTGTCGCCTCACAGCAAGAAGGTCGCTGGTTCAAGCCTCGGCTGGATCAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8668
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
ENSDART00000100060 Nonsense 531 934 11 16
Genomic Location (Zv9):
Chromosome 20 (position 7448698)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 7284091
GRCz11 20 7273970
KASP Assay ID:
2261-3973.1 (used for ordering genotyping assays)
KASP Sequence:
TCTTTATACYATATKTTGAGTGCACTTTCTTATTTTTTGTTTGTAAGGTA[C/A]TATAAGTTGACTGACCCAGGCAATTGGATCACTGTGGTGGAGAGCACTGG
Long Flanking Sequence:
ACCTTTTTGTTTGTTTTTTTTTGTTACTTGTTTAACTGTTGTTGTCATTGAATCATCATTATTTTGCAAGGATGTTATTTTAGTTATTTATTATTATTTGTTTATATCTATATAAAAGCAAAAACTTAATAAAAAAAATATATACTAAACAAAGAGAAATAAGTACAGTAATATAAGATTTGTTCATAGTTTTTAAATTAGTAAATAACTACCTTATTGTAAAGTGTTAGCAGTATTTTAAACAAATTGTTATTGTCAAAACATGACAAAAACATTGCAGATTTCACAAATTTGATTTTAGGTACAATGTTAAAAATGATAAATGTTTTAAAATGTGCATTTAGACAGGTTTTAGTCATGTGACCATGAGGATGCTATGAAGATGTACATTTGGTACAATAAAATATGTGGTAAAATGTGTGGTATGACAATGTAATTACACATGACAAATCTTTATACCATATTTTGAGTGCACTTTCTTATTTTTTGTTTGTAAGGTA[C/A]TATAAGTTGACTGACCCAGGCAATTGGATCACTGTGGTGGAGAGCACTGGAGAACTGAAAGTAGCCAATACTATAGACAGAGAATCCTCTTTGGTTCATAACGACACCTACAACATCACCATAAAAGCAGTGGATGAGAGTGAGTCTGATTTAATGTCTCGTAAGCAAATTCATCGTAATGATCCCTCGCATACCACACACCTACTATATGCAGCACTGAAATGTTTTGTGTATTTGCGAGCACACACTGTTCTCTTTTGTTCTGTGAATGTGTGTGTGTGTGTGTGTGTGTGTTTTCTCTGGCTGTTAATAAAAGACCATTCGATAGGGTGTGGTTGAGAGGGAATCACTTAAGGCAGATTTCATAAGGAGTTTGTGGTTTGATGTATCATGTCTTTCTGATGACGATCAACATGTACCTGATACTACATGTTCTCAATTCACTGAATGTCGTTAAATGGCATTCCAGAGCTGGAAATCGTCTGTCTCTCTTGAACTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36970
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
ENSDART00000100060 Nonsense 803 934 15 16
Genomic Location (Zv9):
Chromosome 20 (position 7442484)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 7277877
GRCz11 20 7267756
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTTTCAGAGCGCTGTTACGGAGAGCAAGAACGTGAATACAGCTCCTGGA[C/T]GATATGGACAGCAGTTTTTCCAGAGCGGCGGAGTTTACAACACCACCACT
Long Flanking Sequence:
ATACTAAAAGTAATACTAAAAAAAGGTGATAACTATTTTAAGCATAAAAAAACACTTGTGTGTACTTTTTGTATCTCACTTACTGTCTAGTATCTTCCAGCTGCCATAGTACAATTTTTCACCACAATATTTTCAAAACAATTCTAAGAAGCAGCAGACTAATCCCACCCTCTCTTTCTTGTCAATCAGGTCTATTCCTCATCTTCTTCTGCACTACCAAAAGAGACAAGCTGCAAATCACTGATGACACAGGAACGGGAGGAATACTCCTCAAATCCAACACAGAGGCACCTGGGGAAGAAGTGGTAAGAAAAACATCTCCTTTTACTCACTTACATCAAGCAGAGAAACAACAATAAGATGTTAACCACATTTGGATGGGATGCGTTTGTCCTTTTCAGAAAGATGGAACTCTATTGTTGATCCCTACAGCAGATGTAGTCGACGGTTCTTTTCAGAGCGCTGTTACGGAGAGCAAGAACGTGAATACAGCTCCTGGA[C/T]GATATGGACAGCAGTTTTTCCAGAGCGGCGGAGTTTACAACACCACCACTCAGGAGTTCGGCACAGATCAGTACTACACATCTGGACGCTACGATAACAAGATATATGGCAACGGCACTCTTCAGAAGTTCTCAAATACTGGTACCCTCGACACGTGGAGAACCAACGGGTGCTACTTGGACAGAGTGAGTTCCTTTTACATTCTGTTTTAATCTGAATAGTTAATCAATTAAAGGTCAAGTATGTCATTTCAAAGGCCCTGTTTACACCTTGCGTTAGAGTGTTCAAAATAGTTTGCATCAAAAATTCTGAAAATTGTAAGAAAATTCTGATACTATTTACTCAAACTCCACTTCCAAAACAGTTATCAATTTTCCCAGCAATTATCAAAATATCTTGATTTTGTGTTCAGCAAAAAAGTTTATAACCACATCATTTTGTGGGTGAACTGCCCTTTTAAGGGTGTTTTATGAATTATTCCACTATGAATGGGCTATTGA
Associated Phenotype:
Not determined