Busch Lab

ZMP

emilin3a

Ensembl ID:
ENSDARG00000078052
ZFIN ID:
ZDB-GENE-080612-2
Description:
Novel protein similar to vertebrate elastin microfibril interfacer family [Source:UniProtKB/TrEMBL;A
Human Orthologue:
EMILIN3
Human Description:
elastin microfibril interfacer 3 [Source:HGNC Symbol;Acc:16123]
Mouse Orthologue:
Emilin3
Mouse Description:
elastin microfibril interfacer 3 Gene [Source:MGI Symbol;Acc:MGI:2389142]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa15954 Essential Splice Site Available for shipment Available now
sa34386 Splice Site, Nonsense Available for shipment Available now
sa10922 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa15954
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
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Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112381 Essential Splice Site 110 687 3 6
ENSDART00000113858 None None 711 None 7
ENSDART00000143791 None None 69 None 2
ENSDART00000148178 None None 308 None 2
Genomic Location (Zv9):
Chromosome 8 (position 23818304)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 22944122
GRCz11 8 22965361
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTTAAAGGGCCCATGCCAATGCAGAAAGGTCCTATGYCTTCATTTAAAG[G/T]TCCAATGCCTATACAGAAAGGTCCTATGCCYTCCTTTAAAGGTCCAATGC
Long Flanking Sequence:
GCAGCTCCCTTCATGAAGGCAATGAAGTGTGCTTGGGGTCAGAAATGCCCAACTACAAAGTATGATAATTAATGCATACATACAATTAATGTTTGTTAAAAAATGCATATTTGTGACATTTAGCTGATTTGCACATCCTGTCTGTTCTTGCAGGTATCGTATGTATTACAAACCAATGTATAAAGTTGCATATAAAACTGTAACTGAGCTGGAATGGAAGTGCTGTCCTGGATATACAGGTGTCGGTTGTACTGAGGGATATGGAATGAAAGCAAGGCCCCTTTTCAATGGACCAATGCCTGCACAAAAGGGTCCTATGCCTCCTTTTAAAGGACAAATGCCAATGCAAAAAGGCCCTATGCCTCCTTTTATAGGGCCTATGCATATGCAGAAAGGTCCCTCATCTCCTTTTAAAGGACCCATGCCAATGCAGAAAGGTCCTATGCCTCCTTTTAAAGGGCCCATGCCAATGCAGAAAGGTCCTATGCCTTCATTTAAAG[G/T]TCCAATGCCTATACAGAAAGGTCCTATGCCTTCCTTTAAAGGTCCAATGCCTATGCAGAAAGGTCCAATGCCTTCATTTAAAGGTCCAATGCCTATGCAGAAAGGTCCCATGCCTTCATTTAAAGGACCGATGCCAATGCAGAAGGGTCCAGTGCATTCATTTAAAAGGCCTATGTCTGCACAGAAAGGTCCAATGCCCTCTTATAAACGTCCAAATGCATCTCAAAAGGGACACATACCTTCATATAAAGGACAGTATCCCCATCCCAATGTCAATGGAAACCCCTGGATTCAGCCTCAAGCTCCAACTAATGGCATAATTGGATATCCAGTTCCTAATACTGGGCCGTCCTCCCAAGATCCTCCAATTGAATCTTACCCAGAGCACCAGGAACCGGAAGTAGATTATCCTGAACCCGTGATTGAACCTCAAGACCTTGGCCATGATATAATCCCAGAAGAGAATGAACCAGTTACTGACTACCAGGATCCTCAGCCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34386
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:
C > T
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112381 None None 687 None 6
ENSDART00000113858 Splice Site None 711 None 7
ENSDART00000143791 None None 69 None 2
ENSDART00000148178 Nonsense 37 308 1 2
Genomic Location (Zv9):
Chromosome 8 (position 23818050)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 22943868
GRCz11 8 22965107
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATAAACGTCCAAATGCATCTCAAAAGGGACACATACCTTCATATAAAGGA[C/T]AGTATCCCCATCCCAATGTCAATGGAAACCCCTGGATTCAGCCTCAAGCT
Long Flanking Sequence:
AGGGATATGGAATGAAAGCAAGGCCCCTTTTCAATGGACCAATGCCTGCACAAAAGGGTCCTATGCCTCCTTTTAAAGGACAAATGCCAATGCAAAAAGGCCCTATGCCTCCTTTTATAGGGCCTATGCATATGCAGAAAGGTCCCTCATCTCCTTTTAAAGGACCCATGCCAATGCAGAAAGGTCCTATGCCTCCTTTTAAAGGGCCCATGCCAATGCAGAAAGGTCCTATGCCTTCATTTAAAGGTCCAATGCCTATACAGAAAGGTCCTATGCCTTCCTTTAAAGGTCCAATGCCTATGCAGAAAGGTCCAATGCCTTCATTTAAAGGTCCAATGCCTATGCAGAAAGGTCCCATGCCTTCATTTAAAGGACCGATGCCAATGCAGAAGGGTCCAGTGCATTCATTTAAAAGGCCTATGTCTGCACAGAAAGGTCCAATGCCCTCTTATAAACGTCCAAATGCATCTCAAAAGGGACACATACCTTCATATAAAGGA[C/T]AGTATCCCCATCCCAATGTCAATGGAAACCCCTGGATTCAGCCTCAAGCTCCAACTAATGGCATAATTGGATATCCAGTTCCTAATACTGGGCCGTCCTCCCAAGATCCTCCAATTGAATCTTACCCAGAGCACCAGGAACCGGAAGTAGATTATCCTGAACCCGTGATTGAACCTCAAGACCTTGGCCATGATATAATCCCAGAAGAGAATGAACCAGTTACTGACTACCAGGATCCTCAGCCAGATCATCAAACTTCCACAACAGTAGAGAGTGAGACAGAGCCTATTCGCAATGCACAAGTGCCCTCTGGTGGGAGTGAAACAAACCAAGGTAAATGAACCATTTATTATACTGTAGTTACACTCTCTCTCTCTAATATAAACAGTTGTAGTAGAATCTGTATTTGTTTGTACAAAATAAAGCCTTCAATGTGCCATAAGTAATTAAATAAATGTAATTCATTTATAGAACATGATGACAACAATATTGAAGATGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10922
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
ENSDART00000112381 Nonsense 329 687 5 6
ENSDART00000113858 Nonsense 369 711 5 7
ENSDART00000143791 None None 69 None 2
ENSDART00000148178 None None 308 None 2
Genomic Location (Zv9):
Chromosome 8 (position 23816861)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 22942679
GRCz11 8 22963918
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGCTCAGCTTCAAGACCTGGAGCCTGAAGAGGGTTGCTGCATTGCCATAT[C/A]AGGTCTAACTGAAAGGGTCATTYATRTGGAGCAGTCAGTGGAAGGTTTGA
Long Flanking Sequence:
TGTGGGCTTTGGAGATCTACCTGGAGGTGCACCGGATATTGAGGGATCAGATGTGGTGGGACACTTTCCAAACTTGGTCGATTTAACTGAAAAGGTTACAGAGCTGCGAGCAGAACTTGTGGCAAAGTCATCTGAGCTGGAAAAATTGAGAGGAGCAGTTGTGAGTCAAAACACCACCCTTCAAAGACTATCAGGTGGGTCAGTGAACCTTAATCAAACTGAAATCCAAAAGGCCCTGGAAACAATGGTGGAGTCCAAAATGAGTGAAGCTCGGGTCACCATATTAGATGGCTTTGAAAAACGAGTGGAAAGTGCAGAGGAGCGATGCGAGAGTCGAATGGCAGAGGTGCGACTCCAATGCAAAGAGGAAAGTTTAGATGGACAAGATCAGATTGAGCAAGTCCTAGACATAAGGGCTGAAAGATTGAGGGCAGAACTACAAAAGCTGCAGGCTCAGCTTCAAGACCTGGAGCCTGAAGAGGGTTGCTGCATTGCCATAT[C/A]AGGTCTAACTGAAAGGGTCATTTATATGGAGCAGTCAGTGGAAGGTTTGAATGAATCCCAAACACACCTACGTGCTGAAATTGGTGGACACAAGGACCATATAGATGGCATGTTGGAAGGCCGACTGGCTTATGTGGAATCCAAATTGAATATTGCATTCAATCAAGAGGAAACAAACATTAACAAAAGTGAGCCTGATAACCTGGAGGTGCAATTGGAAGGGAAGATTAAAGCTCTTGAAACCCGTCTCTTGGCAGCAGTAGAAGAGCTCGGTAATGTCACAGCACCAACTTTACTCGAAGGTCAAGCTGTTCCTTCACTGGAAACAGAGGTAGAATTGTTAAGAAGAAGAGTTGAGGATGATTTGGACCATCTACAGAAACAGCTCAAATCCATGGAGGTTCTTTGTACTTCAGCTTGTGTTCCACAGCCTGTTCTAACAGGATATGCAGCTCCATTGGCTACCGATGAGGACAAACACGAAGACAACCTTAAAGAAA
Associated Phenotype:
Not determined