Busch Lab

ZMP

desma

Ensembl ID:
ENSDARG00000058656
ZFIN ID:
ZDB-GENE-980526-221
Description:
desmin a [Source:RefSeq peptide;Acc:NP_571038]
Human Orthologue:
DES
Human Description:
desmin [Source:HGNC Symbol;Acc:2770]
Mouse Orthologue:
Des
Mouse Description:
desmin Gene [Source:MGI Symbol;Acc:MGI:94885]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa5 Nonsense Available for shipment Available now
sa15298 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa5
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:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081550 Nonsense 287 473 4 9
ENSDART00000081553 Nonsense 287 488 4 10

The following transcripts of ENSDARG00000058656 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 9 (position 7567774)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 7547867
GRCz11 9 7526258
KASP Assay ID:
554-0025.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACATTCGCCTGCAGTACGAGGCTATCGCTGCCAAGAATATCAGCGAGGCC[G/T]AGGACTGGTATAAGTCTAAGGTCTGTATCAGAGATAGATTCAGCTAGATC
Long Flanking Sequence:
GCTGTAAAATTAAAAATAAAAACAAATTGTAAAAACTCAAAATTGTAGATTTTTTTAACAAGATTTTTTTTTTTTTTTAAAAAGAAAAACATTTCTTTGGGTCTCAGGAGGATATTGAATTGACTGACAGGGACAACCTTTCACTATGGAGCATAAAATATGATGATGTGAACATGCATAGTGTGTCAATAGAATTGCTGTATGTCAGTCTAGCGTGTGTGTATACAAACATCAAACATTATAATGCCTCAATAAACTGTGCATGTCTAAATAAATAAGGTCAAAACACACACTCGCCAAACAAAACGCTAATTAGTGCCTTTTGAAGCTATGTATCTGTGTTTGCCTTTTTCCTTTAGGAGATCCGTGAGCTGCAGAACCAAATGCAGGAGAGTCAGGTGCAAATCCAAATGGACATGTCCAAACCAGACCTGACTGCGGCCCTCAGAGACATTCGCCTGCAGTACGAGGCTATCGCTGCCAAGAATATCAGCGAGGCC[G/T]AGGACTGGTATAAGTCTAAGGTCTGTATCAGAGATAGATTCAGCTAGATCACACATTTCAAAGGCTGTACGGCCAGTTAGAAACATGATAGTTACATTAGCATCCACATCAATGCACAATAGCATTCAATTTTACCATCTACCCCTTTAAATTCTTCATGAACCGGAAGTTGCTGAGACTTTTATTTCAGTATGTTGATGTACTTACAACTGAAACAGAATAATGAGTACGGGGTGAGGCTTTCTTATTGTGCATTCCCTCGTAGTAAAGTAAAGGGGGTCACACATCGAATGCGCTGCTTGGTGCCAGACCGAACTACGCAGCACCATGCATTTGATATTATAAAGATAGATTCCTATCAGTGTATGCACACCAGCGCCACAAGTCAGCGGCTGTCCATGGTGCCCAGCCATGACTTAGGTCACTTTTCATATTTTTGCCATGAATACTATCCTATTAAATAAAGTTCAAATGTGCTCGTCTGGTGTGAAATACTTCCA
Associated Phenotype:
Normal
Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037
whole organism
ZFA:0001094
quality
PATO:0000001
normal
PATO:0000461

Mutation Details

Allele Name:
sa15298
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081550 Essential Splice Site 460 473 8 9
ENSDART00000081553 Essential Splice Site 460 488 8 10

The following transcripts of ENSDARG00000058656 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 9 (position 7561392)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 7541485
GRCz11 9 7519876
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCCAAGAAAACAGTCCTGATCAAGACCATCGAGACCCGCGATGGCGAGG[T/C]AACACACACAAACACAYACCTGCCAGGGCGATAGTCATATCTTGATGCTG
Long Flanking Sequence:
AAATGCACCAATTGATTTCCATAGTATTTTTTTCCTCCTATGGAAGTCAGTAAGTGGCAGCAAACAGGAATTTTTCAAAATATCTTATTTTGTGTCAAAAAGAAAGAAACTCATAAAGGTTTAAAGCAGCATGAGGGAAAATAAATGAGGTCATTTTCATTGTTTGGGTGAATTATACCTTTAATATTACAGATAGTTGCCCAAAGCTCTTCTCTTATTCCACCACTAGGAGGAGCAAAGCTTTTGTTTTTTTATTCAAACACTTCCTCTGTTTTTGTTTTCTTGTTTCTGAGCAGCTCCTACAAAGATGGCATCAATAATGCAGTGTTTATGTACTTACCATGTGGAGGCTGAGTTTAATGATGCATGTCTGCGAATTGTTTCCACAGAGAGCAGTCCAGAGCAGCACCACCACCAGCAGCAGCAACCACAACGCTCATCTGAAGTCCACTCCAAGAAAACAGTCCTGATCAAGACCATCGAGACCCGCGATGGCGAGG[T/C]AACACACACAAACACACACCTGCCAGGGCGATAGTCATATCTTGATGCTGTTATTGTCATTAAAGGATTGTTCGGCAAATCCTCAAAGAGATCCAAACCTTGAGTTTCTTTTTTTTTTCCGTCAAACACAAAAGAAGATATTTTGAAATAGGTATTGACATCCATAGTGGTAAACAAAAAATAACAGTATACAGAAATCAATAGCTACATATTTCCAATGTTTTCTGAAATGTTTTCTTTTGTGTTAAGCAGTAAACCTGTCTAGACAAAAGGTTTAGAACTCTAAACAATACTACATTTTTGTGCTTGCTCAAACTACTTATTTAAAATAAGTCGAAACAACTCATCTCTTAATGTTTTTTTATGTCTTAATTGTTTTATGTTTAATCTACCTAAATCTGTAAAAATGATTGAGTTTACTTAAAGAGGTGGTGCAGAATGTAATTTTAAGGCTTGGTTGTGTTAGTAAGATGCAAAGCAATGTGTGCTCATGTTTCACT
Associated Phenotype:
Not determined