|Institutional Source||Beutler Lab|
|Gene Name||thioredoxin domain containing 12 (endoplasmic reticulum)|
|Is this an essential gene?||Probably non essential (E-score: 0.173)|
|Stock #||R7437 (G1)|
|Chromosomal Location||108834601-108862127 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 108856171 bp|
|Amino Acid Change||Serine to Proline at position 77 (S77P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030296 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030296]|
|Predicted Effect||probably damaging
AA Change: S77P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: S77P
|Meta Mutation Damage Score||0.5355|
|Coding Region Coverage||
|Validation Efficiency||98% (54/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. This protein localizes to the endoplasmic reticulum and has a single atypical active motif. The encoded protein is mainly involved in catalyzing native disulfide bond formation and displays activity similar to protein-disulfide isomerases. This protein may play a role in defense against endoplasmic reticulum stress. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]
PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Txndc12||
(F):5'- CGGCCCTCAATTTTAGTTATTTAGAC -3'
(R):5'- GCTAATACGTCTCTCCCGTAAACC -3'
(F):5'- AGACTTAACAATGGTTCCATTAGATG -3'
(R):5'- CCGTAAACCTCAGTATTATTCTCTTG -3'