|Institutional Source||Beutler Lab|
|Gene Name||thioredoxin-related transmembrane protein 4|
|Synonyms||2810417D04Rik, Txndc13, 4930500L08Rik, D2Bwg1356e|
|Is this an essential gene?||Probably non essential (E-score: 0.071)|
|Stock #||R3966 (G1)|
|Chromosomal Location||134594185-134644145 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 134600061 bp|
|Amino Acid Change||Isoleucine to Valine at position 206 (I206V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045154 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000038228]|
|Predicted Effect||possibly damaging
AA Change: I206V
PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: I206V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0832|
|Coding Region Coverage||
|Validation Efficiency||96% (47/49)|
|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 C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The encoded protein has been shown to have reductase activity in vitro. [provided by RefSeq, Jan 2017]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tmx4||
(F):5'- TAGAGAACTCAGTGCAGGTTAC -3'
(R):5'- CAGCCAGTCTCTGCTTAAAGTAG -3'
(F):5'- GTTACTGAAGATCAAGGAAAAGTGG -3'
(R):5'- AGAATTCTATACCCTGGAGTGGTC -3'