txndc5

Ensembl ID:
ENSDARG00000009342
ZFIN ID:
ZDB-GENE-040426-1951
Description:
thioredoxin domain-containing protein 5 [Source:RefSeq peptide;Acc:NP_998181]
Human Orthologue:
TXNDC5
Human Description:
thioredoxin domain containing 5 (endoplasmic reticulum) [Source:HGNC Symbol;Acc:21073]
Mouse Orthologue:
Txndc5
Mouse Description:
thioredoxin domain containing 5 Gene [Source:MGI Symbol;Acc:MGI:2145316]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa8031 Nonsense Mutation detected in F1 DNA During 2014
sa16769 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa8031
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:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000002394 None None 327 1 10
ENSDART00000145815 Nonsense 34 403 1 10
Genomic Location:
Chromosome 24 (position 8070762)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTATCATGTGACAAWGACACAGAGGAGGACGAGCACGCCAAACACACATA[T/G]ACGGTGGAGATGTTCAATGATGCCATCTCTACCGCTCCACACTTCGTCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16769
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
ENSDART00000002394 Nonsense 241 327 8 10
ENSDART00000145815 Nonsense 317 403 8 10
Genomic Location:
Chromosome 24 (position 8060656)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGCAACTTTGACGAGACTGTTGCCAAAGGACTCTCCTTCATCAAGTTCTA[T/A]GCCCCATGGTAAGTGTAGAAGTGTCTCATTTGACTTTTCTTTCTTATAGT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/dfcttu0w