|Institutional Source||Beutler Lab|
|Gene Name||thioredoxin-related transmembrane protein 1|
|Is this an essential gene?||Probably non essential (E-score: 0.131)|
|Stock #||R7293 (G1)|
|Chromosomal Location||70453095-70468040 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 70460551 bp|
|Amino Acid Change||Threonine to Alanine at position 188 (T188A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021471 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021471]|
|Predicted Effect||probably damaging
AA Change: T188A
PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: T188A
|Meta Mutation Damage Score||0.4870|
|Coding Region Coverage||
|Validation Efficiency||97% (74/76)|
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, and one transmembrane domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The mature membrane-bound protein can both oxidize and reduce disulfide bonds and acts selectively on membrane-associated polypeptides. [provided by RefSeq, Jan 2017]
PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tmx1||
(F):5'- CTGTGTACATCAGGGTATGGACC -3'
(R):5'- TTCTCCTTGGAAATGGAATGGTTTC -3'
(F):5'- AGGGTATGGACCAGCTTTTTCCATC -3'
(R):5'- ATCAGGAACTTGTCACAATTTCC -3'