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
sa34555 Nonsense Mutation detected in F1 DNA Not yet available
sa5 Nonsense Available for shipment Available now
sa15298 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa34555
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000081550 Nonsense 206 473 2 9
ENSDART00000081553 Nonsense 206 488 2 10

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

Genomic Location (Zv9):
Chromosome 9 (position 7573966)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 7554059
GRCz11 9 7532450
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGAGGAGATCCACCAGAAAGAGGAAGCTGAAAACAACCTTTCTGCTTTC[A/T]GAGCTGTATGTACTTTATGTCATCTTTACTTTTCAGTCGAATTTTGTTTA
Long Flanking Sequence:
TGAATGTGGAAACATCAAATTCTCCACAATTGCTTGCCAAGTTCATGATTACATTTCATTTAGCAATCAACAATAAGGTTAAACAACAACTGTGTCTTTAATTTCATTTCTAAATGTTAGAGTCACACAAAATCTGCAGAAACTCTCGTCTGGTCCGAGCCCCTCTCTCGTAGTTTCTTCAGTCTATAGCGATTGCGGATTGGCTCGTGTACTAGAAGGCGGGGCTTCATTCGCCATGTTGACCGTTACACTTTTCCCAATTTTAAACTACACAAGTGACACGTCTTGTGTATTCAACAGTCTTTGTGTTCAGCAGAAGAAAACAACTCAAATAGGTTTTAAAAACCTACTGTATGTAGGCATTTAATGGTATACTGTATGTTTTCTTAAAGTAATATGATTACGTATTATTCTATGAAGGCTTTAATGTCTCTTACTTCCACAGACTTCAAGAGGAGATCCACCAGAAAGAGGAAGCTGAAAACAACCTTTCTGCTTTC[A/T]GAGCTGTATGTACTTTATGTCATCTTTACTTTTCAGTCGAATTTTGTTTAAGAAAAAATTTCCTTGAAGAAAGTTAGGAAGAAAATTGAATGACAGATATAATATGGCCAAAATGTAAGCGTTCTATATTTGTTTAAATTATGGTTAGCATGATAGAAGTGCACAGGGCTTAACTCCAGAATTACTTCACAAAATTAATCCAAACATTCCTGATCAATGCGTAAAATGCAATGAAGAGACAGGAACTTTATATCATTGTTTATGGAAGTGTCCTTTGATTAAACAATTTTGGGAGAAAATTCTTAACTTTTTATCTATAGCAATAAAACAGGATATAACCAAATGCCCAAAACTGTGTATTCTAAATATATTTCCTTTTACAAGCACTTTTACTAGTTCAGATAAGAAACTGTTAACTTATTACAGGCAAAACTTATAATAGCAGTACAGAAATAGAGAAAGCCCGCATTTTGGACAATGGTTGCGGGAATTGTCTTATT
Associated Phenotype:
Not determined

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