|Institutional Source||Beutler Lab|
|Gene Name||thioredoxin-related transmembrane protein 3|
|Synonyms||6430411B10Rik, A730024F05Rik, Txndc10|
|Is this an essential gene?||Possibly non essential (E-score: 0.439)|
|Stock #||R5748 (G1)|
|Chromosomal Location||90510154-90543267 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 90537101 bp|
|Amino Acid Change||Valine to Alanine at position 314 (V314A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025515 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025515]|
|Predicted Effect||probably benign
AA Change: V314A
PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: V314A
|Meta Mutation Damage Score||0.15|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. [provided by RefSeq, Jan 2017]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tmx3||
(F):5'- AAGTTCTTGTAGACCACAGTGG -3'
(R):5'- CAGTGGGATGAAGCTGATTCCC -3'
(F):5'- GCTCCTAAGATATAAATGAGGA -3'
(R):5'- GGGATGAAGCTGATTCCCTCTAAC -3'