Busch Lab

ZMP

ENSDARG00000039665

Ensembl ID:
ENSDARG00000039665
Human Orthologues:
DSG1, DSG2, DSG3, DSG4
Human Descriptions:
desmoglein 1 [Source:HGNC Symbol;Acc:3048]
desmoglein 2 [Source:HGNC Symbol;Acc:3049]
desmoglein 3 [Source:HGNC Symbol;Acc:3050]
desmoglein 4 [Source:HGNC Symbol;Acc:21307]
Mouse Orthologues:
Dsg1a, Dsg1b, Dsg1c, Dsg2, Dsg3, Dsg4
Mouse Descriptions:
desmoglein 1 alpha Gene [Source:MGI Symbol;Acc:MGI:94930]
desmoglein 1 beta Gene [Source:MGI Symbol;Acc:MGI:2664357]
desmoglein 1 gamma Gene [Source:MGI Symbol;Acc:MGI:2664358]
desmoglein 2 Gene [Source:MGI Symbol;Acc:MGI:1196466]
desmoglein 3 Gene [Source:MGI Symbol;Acc:MGI:99499]
desmoglein 4 Gene [Source:MGI Symbol;Acc:MGI:2661061]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa3086 Nonsense F2 line generated Not yet available
sa23638 Nonsense Available for shipment Available now
sa32274 Essential Splice Site Available for shipment Available now
sa45688 Nonsense Mutation detected in F1 DNA Not yet available
sa16750 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa3086
Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000057981 Nonsense 130 1418 3 14
Genomic Location (Zv9):
Chromosome 20 (position 7540134)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 7374693
GRCz11 20 7364572
KASP Assay ID:
554-3322.1 (used for ordering genotyping assays)
KASP Sequence:
GTCCAGGAATAAACGAGCGCCCTGTTGGTTGCTTCATGGTAGAAGAGTAC[A/T]AAGGATTAGTTCGCATCATACAGCCTCTGGATCGTGAAGAGAGGAATAAC
Long Flanking Sequence:
CTTTTTCCATGCCTGCATAAATAATCACAAATTACAAGCAAAAATAAATAAATAAACTGTGATATATGGTTTTCCAGGGAGTCTAACCAGTACTCAAGTACAGACATTGAACAATCAAAAGAAACATAACTTGATCATTATTGTATAAATATTAAAAACAAAAATTATCACGACTTAATATTATCTTTATATTTTAATCTCTAATAAATAATCTAATCCTTGCGATGTGACTATTGCAGATACAAACATTGCAATATCAATGCTTAAACTTTATATTGTTTAGCCCTATCAGTGTGTTGTCTGATTTCAATAGTTATCTGTGATTTAGAACTGGCCATCTTTTACATTTATCTGTGGTTCCAGCAATCTAACCAGGATTACTGCTCTGTCAACTTCTTCAGATACGCTCAGACATGGACGATAAAGTGGCATTACGCTACACGCTAAGGGGTCCAGGAATAAACGAGCGCCCTGTTGGTTGCTTCATGGTAGAAGAGTAC[A/T]AAGGATTAGTTCGCATCATACAGCCTCTGGATCGTGAAGAGAGGAATAACTACACTGTAAGTATAACAAACACACATATTTAGGATACAAAGCATTCAAACAGCACACTGTGGCATGTCCTATGGTAGACCACAACTGTAGTCACCTCATTAACTTTGAAGGTTTTGAGAAACACTTGCCTTTCTGACTTTGGAGGCAGTCTGAACACCAAGACACCACATACAACTGAGTTAGGACAAACCTCTTGAAGCAGTGTAATGGGTTTATCATATCCAATAAACTAGAGAGAGCACATAAAAATATAATAAATATGAATTAAATAAAGTACAATTTATTCATGACCAGTGAATTTTAATGTTTAAAAGTTTAACAAAGTCAGGTATGAGCTACCTGGACTTATTTAGCTATTATATGAATTTATTTACATGCATACTAATATTTTTTACAATTTATTGTTACAAACAACCAAGTCCTGAATTCTATAATGAATTTGAAACATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23638
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000057981 Nonsense 328 1418 7 14
Genomic Location (Zv9):
Chromosome 20 (position 7547764)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 7382035
GRCz11 20 7371914
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTTTGAGGATCCAGGCACTGGATATTGATGAAGTACAAACAGACAATTG[G/A]TTGGCTGAGTTCACAATTGTGACAGGGAACGAAGATGGACATTTCAGTAT
Long Flanking Sequence:
TTTAAGACATTTAAAACTTTTTAAGACCCAGCAGACACCCTGGTCACTAAAGAGTTTATGTTTGAAATTTTTGACACTCTCAACAAAAGTCTATGGGATTTTATAGCTTTATTAAGTCAACAAACATTATGAAATTATATACAGAGTTAACCTACTTAAACTGATCAAAAAAACAGTCAAATGTTAAAACGTATAAAAATCATCAAGCATTCAAATCAAACTAATCGCATGTAATATTAGTATTTAAACTAAATACATTTTCATCATTAGTAGCATGAGGTTGCGTGAAACATAACTTTTAATTTTCTTTTAAAGGGAAAGTTCGCTCAAAAATTTAATTTGCATGAGTATATATGCATACTTCACATAATCATACTTCATAAGTGCAGACACCTATTGTTGGTTTTATAGTTTTCAGTAAGTATCGATGAGAATGAGGCACCTATCGAGGTTTTGAGGATCCAGGCACTGGATATTGATGAAGTACAAACAGACAATTG[G/A]TTGGCTGAGTTCACAATTGTGACAGGGAACGAAGATGGACATTTCAGTATTAAGACTGATCCAAGGACTAATATGGGGGTTTTGTACCTGAACAAGGTCAGAGCTTATTTTGTATACAGTTCTGAGAACTGCTGTAATATTTGTGTCTTTTAATTTGTATTTTTGTAATGGGGTTTGCAAAAAGTAAGTAAATGTATCTTGATCTTTTCTCAGCCTGTTGACTATGAGTCAGCATCTAATCTGGACCTAAGCCTCGTTGTTGCAAACAGAGCTCCTCCAGGAGCTCCTCTGGGGAATGGAGTAGGGGCAGGTAGTGCAGCTGGAGCTTCTGGAGCTGGTGGTCAATCTGGAGTTGGTGGTCAGTCTGGATCTTTTGGAGCTGGTGGTCAATCTGGATCTTCTGGAACTGGTGGTCAAGCTGGTGCTACTGGAGCTGGTGGTCAGTCTGGATCTTCTGGAGCCAGCGGTCAATCTGGAGCCTCTGGGGCAGGTTCTCAATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32274
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000057981 Essential Splice Site 360 1418 7 14
Genomic Location (Zv9):
Chromosome 20 (position 7547862)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 7382133
GRCz11 20 7372012
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATTAAGACTGATCCAAGGACTAATATGGGGGTTTTGTACCTGAACAAGG[T/C]CAGAGCTTATTTTGTATACAGTTCTGAGAACTGCTGTAATATTTGTGTCT
Long Flanking Sequence:
TTTTATAGCTTTATTAAGTCAACAAACATTATGAAATTATATACAGAGTTAACCTACTTAAACTGATCAAAAAAACAGTCAAATGTTAAAACGTATAAAAATCATCAAGCATTCAAATCAAACTAATCGCATGTAATATTAGTATTTAAACTAAATACATTTTCATCATTAGTAGCATGAGGTTGCGTGAAACATAACTTTTAATTTTCTTTTAAAGGGAAAGTTCGCTCAAAAATTTAATTTGCATGAGTATATATGCATACTTCACATAATCATACTTCATAAGTGCAGACACCTATTGTTGGTTTTATAGTTTTCAGTAAGTATCGATGAGAATGAGGCACCTATCGAGGTTTTGAGGATCCAGGCACTGGATATTGATGAAGTACAAACAGACAATTGGTTGGCTGAGTTCACAATTGTGACAGGGAACGAAGATGGACATTTCAGTATTAAGACTGATCCAAGGACTAATATGGGGGTTTTGTACCTGAACAAGG[T/C]CAGAGCTTATTTTGTATACAGTTCTGAGAACTGCTGTAATATTTGTGTCTTTTAATTTGTATTTTTGTAATGGGGTTTGCAAAAAGTAAGTAAATGTATCTTGATCTTTTCTCAGCCTGTTGACTATGAGTCAGCATCTAATCTGGACCTAAGCCTCGTTGTTGCAAACAGAGCTCCTCCAGGAGCTCCTCTGGGGAATGGAGTAGGGGCAGGTAGTGCAGCTGGAGCTTCTGGAGCTGGTGGTCAATCTGGAGTTGGTGGTCAGTCTGGATCTTTTGGAGCTGGTGGTCAATCTGGATCTTCTGGAACTGGTGGTCAAGCTGGTGCTACTGGAGCTGGTGGTCAGTCTGGATCTTCTGGAGCCAGCGGTCAATCTGGAGCCTCTGGGGCAGGTTCTCAATTGATGCCTTTTGGAGGAAGCAGTAACCCAGGCTTCAATGTGTCCAAGCTAAAGTCATATTTAGTTAAGGTCAATGTAAAAAACAAACCAGATGCCCCTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45688
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000057981 Nonsense 442 1418 8 14
Genomic Location (Zv9):
Chromosome 20 (position 7548221)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 7382492
GRCz11 20 7372371
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGGTGGTCAAGCTGGTGCTACTGGAGCTGGTGGTCAGTCTGGATCTTCT[G/T]GAGCCAGCGGTCAATCTGGAGCCTCTGGGGCAGGTTCTCAATTGATGCCT
Long Flanking Sequence:
GGATCCAGGCACTGGATATTGATGAAGTACAAACAGACAATTGGTTGGCTGAGTTCACAATTGTGACAGGGAACGAAGATGGACATTTCAGTATTAAGACTGATCCAAGGACTAATATGGGGGTTTTGTACCTGAACAAGGTCAGAGCTTATTTTGTATACAGTTCTGAGAACTGCTGTAATATTTGTGTCTTTTAATTTGTATTTTTGTAATGGGGTTTGCAAAAAGTAAGTAAATGTATCTTGATCTTTTCTCAGCCTGTTGACTATGAGTCAGCATCTAATCTGGACCTAAGCCTCGTTGTTGCAAACAGAGCTCCTCCAGGAGCTCCTCTGGGGAATGGAGTAGGGGCAGGTAGTGCAGCTGGAGCTTCTGGAGCTGGTGGTCAATCTGGAGTTGGTGGTCAGTCTGGATCTTTTGGAGCTGGTGGTCAATCTGGATCTTCTGGAACTGGTGGTCAAGCTGGTGCTACTGGAGCTGGTGGTCAGTCTGGATCTTCT[G/T]GAGCCAGCGGTCAATCTGGAGCCTCTGGGGCAGGTTCTCAATTGATGCCTTTTGGAGGAAGCAGTAACCCAGGCTTCAATGTGTCCAAGCTAAAGTCATATTTAGTTAAGGTCAATGTAAAAAACAAACCAGATGCCCCTAAGTTCATGCCAAAGGTCAAGCCTATATCTATATCTGAGAACAAAAAAAATTCCATTCCAAGAGTAATTGATACCTACACTGCTACAGAAGAAGACACAGGCAGACCTGCAGAAAATGTGAAGTAGGTGTTCTCTTCGTCTTAATAAATCAATTTGAAAATTTTAAATTCAAAATGAGGTACATTAAAACAATTCAATAAGCCATCTGTGTCAATGATATTACGCTTATAATACATTTTTTACCTGCATAACTTAAAATTCTAAATTTCTAAACAAAATGAGGATTTAAAAATTGCATTTCAATAACAGTCCAGTTTTGTTTAGATATGCAAAGGGATACGACCCTGACAACTGGATATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16750
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000057981 Nonsense 695 1418 11 14
Genomic Location (Zv9):
Chromosome 20 (position 7549853)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 7384124
GRCz11 20 7374003
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCTGGCCTGCCCCACAGAGCAASTCCTCAATTTAGAGGTTTGCACATGCT[C/A]AGAAGGGGTGGGTTGTGGTTCAAAAATTGSAGAAGTTCATACAAGTTCAT
Long Flanking Sequence:
GAGGATCTGAATGATAACTGCCCCATACTCCTTAATAATATGCAGATTGTCTGCAGTCATACCAAAGTAGTGAATGTCACAGCTGAAGATATAGATTCCGATCCCAATGGAACTCCATTGGAGTTCAGTTTAATACAAGAGAAGACTAGGGGCAAATGGAACTTGCAGAGAATAAATGGTAACAGCACACACAACAACAAGCTAACCTTATCAATCATACTGTAATCTAATATTTATCAAAAGTTTTACATAGTTTATTTTCAATGGTTAGAACTATTAAAAAAAATACACAGCACAAACAATTAGTAGATATTGCTTGTTCACCTTTGAGTAGGAAGTAACCTCATAGTCAGGTCTCTGCTTCTCAGATGTAAGTGCTTCACTGCTTGCTGAAGATGACTTATGGCCTGGGTTTTACCAAATCACCATGGAAATCAGAGACAAGCAAGGGCTGGCCTGCCCCACAGAGCAAGTCCTCAATTTAGAGGTTTGCACATGCT[C/A]AGAAGGGGTGGGTTGTGGTTCAAAAATTGGAGAAGTTCATACAAGTTCATCAGCAAATTTTGGATTACCAGGGATTGGTTTCCTGGTATTAGGATTCCTCTCCCTTATATGTGAGTATGATGACTAAAGTTCACGAGCAAATTTGGTCTGCAACTTTTTTTGTGGTAGCACTAAAAATAAGTCACACATTTAACATGCATTTGACTGTCTTTACATTTAGTGATGCTCTTGTTCTTGATAAAATGTGAATGTGGAAGCACTGGAAATAAGTTTATTGACTTGCCATTTGAATCCAAGCAACACCTCATCTCCTACAGCACAGAGACAAGAGAAGAACACAGGGTAAAATAATCTCACACATCTCATAATTGCCTTCAGATATTTTGACAATATGAAAGCATGTGATAATTCATTTTGTTCTCCAGGGTGTCCCTCTGATGTGGCCCCCACCAAACCTTGACAATAAAGGGGGCTGTGAAATGTCCAATGGACATTTAAGA
Associated Phenotype:
Not determined