adam28

Ensembl ID:
ENSDARG00000035514
ZFIN ID:
ZDB-GENE-060929-532
Description:
a disintegrin and metallopeptidase domain 28 [Source:RefSeq peptide;Acc:NP_001070186]
Human Orthologues:
ADAM28, ADAM7
Human Descriptions:
ADAM metallopeptidase domain 28 [Source:HGNC Symbol;Acc:206]
ADAM metallopeptidase domain 7 [Source:HGNC Symbol;Acc:214]
Mouse Orthologues:
Adam28, Adam7
Mouse Descriptions:
a disintegrin and metallopeptidase domain 28 Gene [Source:MGI Symbol;Acc:MGI:105988]
a disintegrin and metallopeptidase domain 7 Gene [Source:MGI Symbol;Acc:MGI:107247]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa31442 Nonsense Mutation detected in F1 DNA During 2016
sa33611 Splice Site, Nonsense Mutation detected in F1 DNA During 2016
sa11354 Essential Splice Site Available for shipment Available now
sa40439 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa31442
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 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000098604 Nonsense 36 762 2 21
ENSDART00000130936 Nonsense 36 293 2 9

The following transcripts of ENSDARG00000035514 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 29544252)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 27299550
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTACAGTTGGTCACATTCACGAACTACATGGCAAGGTTTATGAGATTGTA[C/T]GACCAATAAGATTACATGATCTGCAAAAAAGAGACTTACAGGTGAGTTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33611
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 2016.
Mutation:
A > T
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000098604 Splice Site, Nonsense 453 762 13 21
ENSDART00000130936   None 293 None 9

The following transcripts of ENSDARG00000035514 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 29556826)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 27312124
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AACTGACTGTGGGCTCACAATGTGCAGCAGGAGAATGTTGTGACAACTGT[A/T]AGGTATAGTGGAGGTTTTTTGCTGTGTCATTCATCAAATCACCAAAGGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11354
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
ENSDART00000098604 Essential Splice Site 453 762 13 21
ENSDART00000130936   None 293 None 9

The following transcripts of ENSDARG00000035514 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 29556829)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 27312127
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGACTGTGGGCTCACAATGTGCAGCAGGAGAATGTTGTGACAACTGTAAG[G/A]TAWAGTGGAGGTTTYTTGCTGTKTCATTCATCAAATCRCCAAAGGATTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40439
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 2016.
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000098604 Nonsense 547 762 15 21
ENSDART00000130936   None 293 None 9

The following transcripts of ENSDARG00000035514 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 29558547)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 27313845
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AACACAAGAGCGGAGTACTACGCTTACTGCAAACGCAATGGAGATAAATA[T/G]ATTGGATGCCAAAAACAGTATGATTTTACATCTGTATTTATATTCATTCT
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Height: Hundreds of variants clustered in genomic loci and biological pathways affect human height. (View Study)
  • White matter integrity (interaction): White matter integrity as an intermediate phenotype: exploratory genome-wide association analysis in individuals at high risk of bipolar disorder. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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