Busch Lab

ZMP

eml1

Ensembl ID:
ENSDARG00000042840
ZFIN ID:
ZDB-GENE-060929-156
Description:
echinoderm microtubule-associated protein-like 1 [Source:RefSeq peptide;Acc:NP_001180527]
Human Orthologue:
EML1
Human Description:
echinoderm microtubule associated protein like 1 [Source:HGNC Symbol;Acc:3330]
Mouse Orthologue:
Eml1
Mouse Description:
echinoderm microtubule associated protein like 1 Gene [Source:MGI Symbol;Acc:MGI:1915769]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa36453 Nonsense Available for shipment Available now
sa13937 Nonsense Available for shipment Available now
sa16731 Nonsense Available for shipment Available now
sa14062 Nonsense Available for shipment Available now
sa36452 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa36453
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000104307 Nonsense 233 281 7 7
ENSDART00000126414 None None 813 None 22
ENSDART00000134998 None None 101 None 3

The following transcripts of ENSDARG00000042840 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 17 (position 31059353)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 30983280
GRCz11 17 31000243
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCCCTCGCAGTCCACCAACAACCCATCAGAGGTCAAGATTCTGTCTGAC[A/T]GAGCGGCCCGACTCGGATACCGAAAGATCCCTCCGTTTAGTCTTCCTCTG
Long Flanking Sequence:
TTGCAGTGTGCTTTTTGAGGCCTGTTCACACCAAGATCAATAACTATTTTGGAAATGAATGCTGTAGTTACATCAACAACACAATAACGTTCTGTCTTTTATAGAATTATGCTCCAAGATGAGCAGTCAAGTATTTTTTTTTTTTTTTTTTTTTTTTTTATCTCCAATGGACCACAGTTTATATTATTAAGTGAATACATCTTTGGAAGGCTCTCTTTGGTGTGAATATGTCTTTTAGTCTTGTGAAAGCCTTGTCGTCTTGTTATTATGATAAAAATCTAACAATTTTAGGCCATGCATGATCATGATTATACTTCATCCCACCTTTCCACCCTGTCCCGCCCCTGCCCTGTCCAATTTGACCACTTCACCCAGTAACTGTGCAGATCTACTTGCACCGGCCGTCCAAAAGGACCAGATCCGCCGAACCCCCCAAATCATCATCAGCCGTGCCCTCGCAGTCCACCAACAACCCATCAGAGGTCAAGATTCTGTCTGAC[A/T]GAGCGGCCCGACTCGGATACCGAAAGATCCCTCCGTTTAGTCTTCCTCTGAGGAAGTGCACATCTCAGCCTGTCCACTCACCCTTAGAAATGCCCACTTACAGGAGCCCAGTCAAATCTCCCAGCCAGTACTTTCAGATCTGTTACTAATCCCAACAGCTATAATAATAGACGTGACCTGGTGTTTATAAGGAGTTTTGTGTTCTGTTTCATTCTTTTTGTTTTGATTTTGTGTCACTTTGCTTTGATTTAGGTTATGTTTGTTGAGCTGCGTGTTCATCTTTTTTTTTGCTTCTAAATAGGTTCATTTTCTTTCAAGTGTGCGTTATCATCTGTATTTTTGTCTTTTCCATTGTGTTTGCATGCAGGCCTGTCTGTTATTTTTGTTTTGTGTTTATTACTAATTCATTAACTCATGGACCTGTTGCATTCACATGCTTTTGCATTTGATTTTGCACTGTTTGTCTTTACTTACATTGAACGCATCTCGAATACTGTATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13937
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000104307 None None 281 None 7
ENSDART00000126414 Nonsense 212 813 6 22
ENSDART00000134998 None None 101 None 3

The following transcripts of ENSDARG00000042840 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 17 (position 31056904)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 30980831
GRCz11 17 30997794
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
KCACCATGTACATGCCCAAAGACCTGGTGGAYACTTATTGCCTGGAAACT[A/T]AAGCTGACTWGCCTCCTAAAAAACTGAAGCTAGACTGGGTGTATCCTTTA
Long Flanking Sequence:
AAAAAACAGTGTATAAAAGTATAATTTTATTCTGTGACTCAAAACTGATTCTTTAGCATTATACCTCCAGTCTGCAGTGTCACACCATCCTTGAAAACCTGAAATACAGTACCTATTAACATTGTTGAAAACACTGCTGCTTAATATTATAATAAAAACTGTCATTCATTTTCCTGATAAATAAGAAGTTAGTGTTTATTTGAAAATGAAATCTTTTTAATATGTCTTTACTGTCATGTTTGATCAATTTTTTTGCATTCTTTCTGAACAAAAGTATTACATTCTTTCAAGTTGCTGAGCCTTCATCTGGCTCAGTCGAAATCTGGTAATAAAAGCCACAACAGATGTGACAGGGATCCTTCAGTGACCCATGCATTTTCTTCTTCTGAAAATCTATGTTGCTTTTTCTAGATGAAGGGTATGTCAAAATGTATTTGAAGGGACGACCCATCACCATGTACATGCCCAAAGACCTGGTGGATACTTATTGCCTGGAAACT[A/T]AAGCTGACTTGCCTCCTAAAAAACTGAAGCTAGACTGGGTGTATCCTTTAATGCTGCTGCATGCGAAGAAAAAAAGAAGAAATATAGATTGATTCTGAACGCTCATAGCTGTAAAATTAAATTACCCATTGATTTATTATAGCCTAGAAAATGAGCTGGTTAAAATGCCAGAGCTAAATGATGGATATGGTTTCTAGGTCACTTTTATGTTGCGAGATTATTGTGGATAATGTATGTTCGCTGTGTTGTACTTCTGTATTCACATTCTAGGTTACTATAGGATGTTTAATCATGTACTCTGGTTTTCTCTCTGGATCTGCTGAGCACTGCAGTCTGCCAAAGTGGAATATTTTCTTCAGCTCTTACCCACAATGCATTTGGAATGTTCCCTGAAAAGGACTTTGTGCGGCAAAATTAAGACATTTATTATACCCAAAGCCTAGCAAATGTAAAATATTAAGTGGTCAGCTGGCACTTCTCCACAAATGTTCCAAAGATCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16731
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000104307 None None 281 None 7
ENSDART00000126414 Nonsense 215 813 6 22
ENSDART00000134998 None None 101 None 3

The following transcripts of ENSDARG00000042840 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 17 (position 31056894)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 30980821
GRCz11 17 30997784
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CATGCCCAAAGACCTGGTGGAYACTTATTGCCTGGAAACTWAAGCTGACT[T/A]GCCTCCTAAAAAACTGAAGCTAGACTGGGTGTATCCTTTAATGCTGCTGC
Long Flanking Sequence:
GTATAAAAGTATAATTTTATTCTGTGACTCAAAACTGATTCTTTAGCATTATACCTCCAGTCTGCAGTGTCACACCATCCTTGAAAACCTGAAATACAGTACCTATTAACATTGTTGAAAACACTGCTGCTTAATATTATAATAAAAACTGTCATTCATTTTCCTGATAAATAAGAAGTTAGTGTTTATTTGAAAATGAAATCTTTTTAATATGTCTTTACTGTCATGTTTGATCAATTTTTTTGCATTCTTTCTGAACAAAAGTATTACATTCTTTCAAGTTGCTGAGCCTTCATCTGGCTCAGTCGAAATCTGGTAATAAAAGCCACAACAGATGTGACAGGGATCCTTCAGTGACCCATGCATTTTCTTCTTCTGAAAATCTATGTTGCTTTTTCTAGATGAAGGGTATGTCAAAATGTATTTGAAGGGACGACCCATCACCATGTACATGCCCAAAGACCTGGTGGATACTTATTGCCTGGAAACTAAAGCTGACT[T/A]GCCTCCTAAAAAACTGAAGCTAGACTGGGTGTATCCTTTAATGCTGCTGCATGCGAAGAAAAAAAGAAGAAATATAGATTGATTCTGAACGCTCATAGCTGTAAAATTAAATTACCCATTGATTTATTATAGCCTAGAAAATGAGCTGGTTAAAATGCCAGAGCTAAATGATGGATATGGTTTCTAGGTCACTTTTATGTTGCGAGATTATTGTGGATAATGTATGTTCGCTGTGTTGTACTTCTGTATTCACATTCTAGGTTACTATAGGATGTTTAATCATGTACTCTGGTTTTCTCTCTGGATCTGCTGAGCACTGCAGTCTGCCAAAGTGGAATATTTTCTTCAGCTCTTACCCACAATGCATTTGGAATGTTCCCTGAAAAGGACTTTGTGCGGCAAAATTAAGACATTTATTATACCCAAAGCCTAGCAAATGTAAAATATTAAGTGGTCAGCTGGCACTTCTCCACAAATGTTCCAAAGATCTTTATCTTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14062
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000104307 None None 281 None 7
ENSDART00000126414 Nonsense 362 813 10 22
ENSDART00000134998 None None 101 None 3

The following transcripts of ENSDARG00000042840 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 17 (position 31048288)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 30972215
GRCz11 17 30989178
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATGACYCCAATGACCACATGCTCTCTGTGTGGGACTGGCAGAGGGAAGAC[A/T]GAYTCGCTGAAGTCAAGGTGAGYGCTTCAGTATTCAGCATAGATTTATTA
Long Flanking Sequence:
GAAAGTCTTATTTGTTTTATTACAGCTAGAATTAAAGCAGTTTTACATTTTTAAAACCCTTTTTAGGTCAATATTATTAGCCCCTTTAAGCTAAATTTTGATCGATACAGAACAAACCATCTTTATACAATTACCCTAACCTGCCTAGTTACCCTATTTAACTTAGTTAAGCCTTTTAATGTCACATTAAGCTGTATAGAAGTGGCTTGAAAATTATATAGTAAAATATCATTTACTGTCATCATGGCAAAGATAAAATAAAGCAGTAATTAGAAATGAGTTATTAAACCATTATGTTTAGAAATGTTTTGAAAAAATCAGAAATGAGAGAAAAAACATACAGGGTTACTAATAATTCTGACCTCAACTTTATCTGTCAAAATGAGCTTCAGTGTTATTAAAAAAACTTTCATTACATTCAGAACGGTGGAAGCTGGTTGTGTGTTGTGGATGACTCCAATGACCACATGCTCTCTGTGTGGGACTGGCAGAGGGAAGAC[A/T]GACTCGCTGAAGTCAAGGTGAGTGCTTCAGTATTCAGCATAGATTTATTAGCATTGTCTACTTTGGGTCAGCATTGGGAGTGCAGAAATAACCTGATTTGCGCATCTATGTCTTTTTTTCTCTCCCCTTTTAGTGCTCCAATGAGTCAGTGTTTGCTGCTGATTTCCACCCGACAGATGCTAATATAATTGTAACATGTGGGAAATCACATCTGTGCTTCTGGTCATTAGAAAAGGGGTCTCTTGTGAAAAAGCAGGGTCTTTTTGAGGTAATCTCCCCTAAGCCACAAGACTATTTTTATGAAATCAGATTAATTTTTTTTTATTTTATTCGGAAAAACATGTGCATGTGCATCATAAGTGCCATGCAGTAAAATGTAGAGACATCTGCTCATCCTTTAATGCAACTGTTTTATGCTTCTATGATCAAAAACACACACATGGAAGTATTACATTATTAGTGCATTTTCATTTTTGAGTGAAATGTCTCTTTAAGGTCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36452
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
ENSDART00000104307 None None 281 None 7
ENSDART00000126414 Essential Splice Site 635 813 17 22
ENSDART00000134998 None None 101 None 3

The following transcripts of ENSDARG00000042840 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 17 (position 31041927)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 30965854
GRCz11 17 30982817
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTCACACGGATGGGAATGAACAGCTGTCTGTGATCCGCTTTTCTCCGGG[T/C]TAGAGTTACTTCTCCCTGCAGCTTTTTTTCTTTTTGCTGGGAAAACATTA
Long Flanking Sequence:
ATATATATATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCATCATGACATTTTTTATATGGAATTGGAGAACCGGTGGTGCTATGACAATCATGAAGATCAAAAATACTGAATTTGTCTGCCAATTCACCTGAAATGGCTAATATTTGCATTTTTTATCATTGATTTAAGTGTTTATGGGTTACTAAACATTAAATAATCTTTTTACATGAATTCTATTGATCTCTAAGCACAATAATCCCTGCCTGCAGCTATATTTATGTGTGTTTCTTCAGACCTGTGTGTTTTTAATCTTGTGCTTTTACTCATTATGATTATGTGCAGGTGGCTGGTGCTCGATACTGAATCGAAGGATCTCGTCACGGTTCACACGGATGGGAATGAACAGCTGTCTGTGATCCGCTTTTCTCCGGG[T/C]TAGAGTTACTTCTCCCTGCAGCTTTTTTTCTTTTTGCTGGGAAAACATTAGGATGTTAGCCAAAAACTTGCACTCTTTTAAATCTCTAACAATTGATTAAGTTGAAAAAAACCCTGGTTATTTGTTCCAGATGGTAATTTCCTCGCAATAGGGTCTCACGACAACTACATCTACATTTATGCTGTGGCAGAAAATGGCAAGAAATACAGCAGAGTTGGAAAGTGCTCAGTAAGTATGTGTTTAAAAGCAACAATATGGCTTTTGTATAAGTAATGTCTGTAATAGATCCCACATCAAAAAGCTGACTTATTATATTGGTCAAAGGATGCGTCAAATTATTTTTTACATACATGGTAGTGTCTACTTTAAGGTTTCATTCTTGCTGTAAATACTGCATGCCTGTAAATCATGATAAAAATGTATGATTTACAAAAATCATGATGGTATATATTACAGTCATTAGAGTCATCAGAAAGAAGCATTAAAAGTATACATTATTT
Associated Phenotype:
Not determined