Busch Lab

ZMP

emilin2a

Ensembl ID:
ENSDARG00000061196
ZFIN ID:
ZDB-GENE-060503-247
Human Orthologue:
EMILIN2
Human Description:
elastin microfibril interfacer 2 [Source:HGNC Symbol;Acc:19881]
Mouse Orthologue:
Emilin2
Mouse Description:
elastin microfibril interfacer 2 Gene [Source:MGI Symbol;Acc:MGI:2389136]

Alleles

There are 8 alleles of this gene:

Allele Name Consequence Status Availability
sa32947 Nonsense Mutation detected in F1 DNA Not yet available
sa719 Essential Splice Site Available for shipment Available now
sa718 Essential Splice Site Available for shipment Available now
sa9754 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa32947
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087026 Nonsense 41 1024 1 8
ENSDART00000140841 Nonsense 75 776 2 4
ENSDART00000148157 None None 155 None 2
Genomic Location (Zv9):
Chromosome 2 (position 30732152)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 31033787
GRCz11 2 31017320
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGAACCTGAAGCCGCGCGCTGTCCTGAGCACCAGCCTGACTGTGAGCCA[C/T]AAATGATGTAAGTCCTCGAGAGACCGGGAGGGGCGTGTGGTGGAAACACG
Long Flanking Sequence:
TGCTATTATTTTGTTCCCATGTTGTTTTATCGCTAAAGCAACAAATAACAAGAGGTCAATCGATTTATTTATTGAACTTTCTTCTCCTCCGTGGGCGAATATATCAATGGTTGTTTTCACAGTTGTAAAAGAATTTGCTTTCATTAAAAAAGAAGATAATAAAACAAACCACTCGCTTCCAGAAGTCAGTGATAAAAACGAGTTTTGGACCATTTTTTTAGGTTTTTTGCAACCACAAAAACGTATTATATTCTTATGCTGTTTCAGATATTTCTGTTTTAATATATTTAACTGTGTTGCACTGAAATTGGTGCGACAGCCACATATTTAAGCACTTCACAGTATTCTTATTCTGTTTCTTCTTTTTTTGTGATTTGTACAGAAACTGGTGCGCTTTTATCGTCCAAAAGAATGTGAGCTGCGCGGTTCAAGGCAGCGTGGAGAGTCACGTTGAACCTGAAGCCGCGCGCTGTCCTGAGCACCAGCCTGACTGTGAGCCA[C/T]AAATGATGTAAGTCCTCGAGAGACCGGGAGGGGCGTGTGGTGGAAACACGATGTTGTCAGTAGTTCTTATGGTCTTAATGCACTCAAAGACACTATACTGACCAATCCCATGATTCACGTTAACTAGACCTGTTTCACATAAACAGGAATGTCAGTATACGACATTAAACATTACCAGAATAGCTTAAACTGCCTGCTCTACCAAATGGTTGGCCATATTTTGACTGTTTTAAATAATGACTGTTAAAGTCATTTAAAAATGACATTATTAAATGTTTTTAATAATGGTTTACATTACACAGCATTGTTGGTTTACAAAAAAACAAACTTGTTGCTCTACTACAATTGATTTTGGTTTTGTTCTAAAAATAATAATAAAAACAAGAAAAAATGCTAAATGAGAGTCTGAAATATTTTATGGCATACTTCAATAAATAAAGGTGATTTAGTATTTTAAAATGTTTTATTTTGTATTTTGCTTTAAGTAAACTGGTATTGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa719
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087026 Essential Splice Site 117 1024 2 8
ENSDART00000140841 None None 776 None 4
ENSDART00000148157 None None 155 None 2
Genomic Location (Zv9):
Chromosome 2 (position 30728306)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 31029941
GRCz11 2 31013474
KASP Assay ID:
554-0627.1 (used for ordering genotyping assays)
KASP Sequence:
TCGAACTGCACAAAGTATGGAATCTTTCACAATGATTGCATGTTRTTTCT[G/A]TATGTTCTAATGCATGTATTCATTTTTTAGGTTTAAATGATCTTAATGGT
Long Flanking Sequence:
CATTAAGTGAAGCTAGGCAGACTAGGCAAGTAGACTCCTTTTATTAATCCCTCTCAGTCTGTTCAAGTTAATACTTGCCTTTACCTTTGCTTTCATCCTGTAATAGGGGCAATACTTCAGGGTCCATTACTCACGGTTCAAAGTCATAACAATAAGTGGCTTAAGTTTAGTAAATAATAGTTTGACGAAATCAGTTTTAAATGAGATTACGCCGTCAAGTTGTTTTTGGATTTTCACAGCATGTAAAATCATCATAATCAATGTTTTTTTTTTCAGATACCGTACTCGATTTCGTCCAACTTATAAGATAGCATACAAGACCGTGACTGAATTAGAATGGCGGTGCTGTCCAGGATATCAAGGTCCAGACTGCAGGGAAGTTAAAGGCTTTCCAAATGGACAAATAGCGAATCCACAATCATACCCACAATATCCACAGCATGGACAAACTCGAACTGCACAAAGTATGGAATCTTTCACAATGATTGCATGTTGTTTCT[G/A]TATGTTCTAATGCATGTATTCATTTTTTAGGTTTAAATGATCTTAATGGTGATTTGTTTCTATACGTTTCGTTACCACAGGACCAGAGCGGCGGGAAACTGTACAATATGACTTGAGAAGAGGAGCTGACAGAACACGAATGTTGGAAGAAGAAGTGCAACGTCTCAGCCAGACAGTTCTGGATCTTCAAGCTGCCATGACAGGTATGGCAGAGAACCTGCGGACAGACATACAAGAGGACACCAGCAAGATGCTCATTACCCTCCTCAATGACAGGACTTCACCTGACAGCGCAAGAACTGGAGGCACAGAAGAGAGTGTGGTGCTTCTTGACGGCCACCAGGCTATGAGAGGCCAAACTCATGGAGAAAGAGAAATGGAAACGGTGATGGCAAGACTCAATGACGTCACAGATGCTCTCAAAACCAAAGACGAAGCTCTTGAGGAATTGCGGGGAACAGTGACGGGACATGACAATCAAATCCGAATGCTTATGGATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa718
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087026 Essential Splice Site 118 1024 3 8
ENSDART00000140841 None None 776 None 4
ENSDART00000148157 None None 155 None 2
Genomic Location (Zv9):
Chromosome 2 (position 30728241)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 31029876
GRCz11 2 31013409
KASP Assay ID:
554-0626.1 (used for ordering genotyping assays)
KASP Sequence:
TGTATTCATTTTTTAGGTTTAAATGATCTTAATGGTGATTTGTTTCTATA[C/T]GTTTCGTTACCACAGGACCAGAGCGGCGGGAAACTGTACAATATGACTTG
Long Flanking Sequence:
AGTTAATACTTGCCTTTACCTTTGCTTTCATCCTGTAATAGGGGCAATACTTCAGGGTCCATTACTCACGGTTCAAAGTCATAACAATAAGTGGCTTAAGTTTAGTAAATAATAGTTTGACGAAATCAGTTTTAAATGAGATTACGCCGTCAAGTTGTTTTTGGATTTTCACAGCATGTAAAATCATCATAATCAATGTTTTTTTTTTCAGATACCGTACTCGATTTCGTCCAACTTATAAGATAGCATACAAGACCGTGACTGAATTAGAATGGCGGTGCTGTCCAGGATATCAAGGTCCAGACTGCAGGGAAGTTAAAGGCTTTCCAAATGGACAAATAGCGAATCCACAATCATACCCACAATATCCACAGCATGGACAAACTCGAACTGCACAAAGTATGGAATCTTTCACAATGATTGCATGTTGTTTCTGTATGTTCTAATGCATGTATTCATTTTTTAGGTTTAAATGATCTTAATGGTGATTTGTTTCTATA[C/T]GTTTCGTTACCACAGGACCAGAGCGGCGGGAAACTGTACAATATGACTTGAGAAGAGGAGCTGACAGAACACGAATGTTGGAAGAAGAAGTGCAACGTCTCAGCCAGACAGTTCTGGATCTTCAAGCTGCCATGACAGGTATGGCAGAGAACCTGCGGACAGACATACAAGAGGACACCAGCAAGATGCTCATTACCCTCCTCAATGACAGGACTTCACCTGACAGCGCAAGAACTGGAGGCACAGAAGAGAGTGTGGTGCTTCTTGACGGCCACCAGGCTATGAGAGGCCAAACTCATGGAGAAAGAGAAATGGAAACGGTGATGGCAAGACTCAATGACGTCACAGATGCTCTCAAAACCAAAGACGAAGCTCTTGAGGAATTGCGGGGAACAGTGACGGGACATGACAATCAAATCCGAATGCTTATGGATAGTGCTTCTCAAAGCCTACCAGTTGCGGGTGATTCTTCTCAAGATGTAGACGTCCTTCAGGCTTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9754
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
ENSDART00000087026 Nonsense 993 1024 8 8
ENSDART00000140841 None None 776 None 4
ENSDART00000148157 Nonsense 124 155 2 2
Genomic Location (Zv9):
Chromosome 2 (position 30701925)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 31003560
GRCz11 2 30987093
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGCGTCTTTCAGCCTCATYCTYCCKCTCCACAGAGGTGACACCRTGGCCT[T/A]GGTCCGCACTGCTGGTAAGCTGGCGGTCTCYGAATCAAGAGAGATCCTCT
Long Flanking Sequence:
AGATTAGAAAAATCTCAAGCATGCAATATTCACAGAAGTCTCTTCTCCACAACAGTGTCACAGCAGAACTCGGTGATGGACCCATTTTCTTTCTCTGCTGGTCTCACACGTCAGACTTTCTCTGGGGACTTCGGCATCATTGCCTTTGACAGAGTGCTGGTCAACGATGGAGGACACTATAACCCTCAGACAGGTAAGTGCAAAGTCTCCATTTCCTGAAGCCAGTCTAAGAGATAAACCGCACTCATGTGGCTCTTCCTCTCCGGCAGGGATCTTTACGGTGCCCACTGACGGCCGTTATCTGGTGACGGCTGTTTTATCCGCCCAGCGGGGTGAGCATGCAGAAGCTGTGCTCTCAGTATCCAATCGCAGCGTGCAGAAGTTGGACACGGCGGGTTACTCGAGTGGACACCTGCGACTGACCCAAGATCAGTGTGCATGTGGAGGGTCAGCGTCTTTCAGCCTCATCCTCCCGCTCCACAGAGGTGACACCATGGCCT[T/A]GGTCCGCACTGCTGGTAAGCTGGCGGTCTCCGAATCAAGAGAGATCCTCTCCACCTTCAGCGCTATATTCCTCTACTCGCCTCAAGCGAAGAGATAACCCTGTCACTGCGGAGAGGGTGACCGATGTGACTTTTAACGAAAGTCTAACCATTCACCATGCTGCCTCACAAGTAAAGGAGTGGCCATTTTACTAAACTTCCAGCACAATGTTTGATGAGGTTATGAATTACGCAAAGGGAAATTTCTGCTGTTCAGTGAAATTTCAGATTCTGGATTCCAACTGAAATGGCTGGATTTCACTCACTCATTTGCAAAATAACACGTTATTCAAGGGATAAGCCACAAAAAAAATGATATTAAGTCATTGTTTATTCACTCTGGTATAGAAGCTTGATTCTGCCAGTGAATTTAATTCAAATATTTTTTATTTATATAGTGCTTTTACAATGTAGATTGTGTCAAGCAGCACAACATAAACAAAGAAAAGAGAATAGAAAAGA
Associated Phenotype:
Not determined