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 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa3382 Essential Splice Site Mutation detected in F1 DNA During 2014
sa8086 Nonsense Mutation detected in F1 DNA During 2014
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:
sa3382
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
A > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087026 Essential Splice Site 43 1024 None 8
ENSDART00000140841 Essential Splice Site 77 776 None 4
ENSDART00000148157 None None 155 None 2
Genomic Location:
Chromosome 2 (position 30728532)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTTGGATTTTCACAGCATGTAAAATCATCATAATCAMTGTTTTTTTTTTC[A/G]GATACCGTACTCGATTTCGTCCAACTTATAAGATAGCATACAAGACCGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8086
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087026 Nonsense 102 1024 2 8
ENSDART00000140841 Nonsense 136 776 3 4
ENSDART00000148157 None None 155 None 2
Genomic Location:
Chromosome 2 (position 30728355)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAATAGCGAATCCACAATCATACCCACAATATCCACAGCATGGACAAACT[C/T]GAACTGCACAAAGTATGGAATCTTTCACAATGATTGCATGTTRTTTCTRT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa719
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
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:
Chromosome 2 (position 30728306)
KASP Assay ID:
554-0627.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCGAACTGCACAAAGTATGGAATCTTTCACAATGATTGCATGTTRTTTCT[G/A]TATGTTCTAATGCATGTATTCATTTTTTAGGTTTAAATGATCTTAATGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa718
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Essential Splice Site
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:
Chromosome 2 (position 30728241)
KASP Assay ID:
554-0626.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGTATTCATTTTTTAGGTTTAAATGATCTTAATGGTGATTTGTTTCTATA[C/T]GTTTCGTTACCACAGGACCAGAGCGGCGGGAAACTGTACAATATGACTTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9754
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
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:
Chromosome 2 (position 30701925)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGCGTCTTTCAGCCTCATYCTYCCKCTCCACAGAGGTGACACCRTGGCCT[T/A]GGTCCGCACTGCTGGTAAGCTGGCGGTCTCYGAATCAAGAGAGATCCTCT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/j6pdpygj