TGFBR3

Ensembl ID:
ENSDARG00000078670
Description:
transforming growth factor, beta receptor III [Source:HGNC Symbol;Acc:11774]
Human Orthologue:
TGFBR3
Human Description:
transforming growth factor, beta receptor III [Source:HGNC Symbol;Acc:11774]
Mouse Orthologue:
Tgfbr3
Mouse Description:
transforming growth factor, beta receptor III Gene [Source:MGI Symbol;Acc:MGI:104637]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa15029 Splice Site, Nonsense Available for shipment Available now
sa33849 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa15029
Current 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:
T > A
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109313 Splice Site, Nonsense 722 848 13 15
Genomic Location (Zv9):
Chromosome 6 (position 20785508)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 24473402
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGYTTACACCTGGATCTTGTTCTGWYRTTCCTGCTTTTCTCTTTGTAGTG[T/A]ATGTTACCGGATGAAGCCTGCACTTCCCTCAGTATAGAGAGCATCCTACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33849
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 > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109313 Nonsense 821 848 15 15
Genomic Location (Zv9):
Chromosome 6 (position 20810855)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 24498749
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTCTCAATGTTTTCAGGTGGCACAGCTGCAGGACAGCAGGTGCCGAGTTG[T/A]CCGCCAGTGTCTGAAAACAGCAGCGCGGCTCACAGTATCGGCAGCACACA
Associated Phenotype:
Not determined

GWAS

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

  • Bone mineral density: Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups. (View Study)
  • Optic disc parameters: Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area. (View Study)
  • Type 2 diabetes: Genome-wide association study for type 2 diabetes in Indians identifies a new susceptibility locus at 2q21. (View Study)
  • Vertical cup-disc ratio: A genome-wide association study of optic disc parameters. (View Study)

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

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