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