|Institutional Source||Beutler Lab|
|Gene Name||SEC62 homolog (S. cerevisiae)|
|Synonyms||3100002M17Rik, Dtrp1, Tloc1, HTP1, SEC62|
|Is this an essential gene?||Probably essential (E-score: 0.864)|
|Stock #||R6734 (G1)|
|Chromosomal Location||30792875-30821263 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 30810460 bp|
|Amino Acid Change||Threonine to Alanine at position 158 (T158A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029256 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029256]|
|Predicted Effect||probably benign
AA Change: T158A
PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: T158A
|Coding Region Coverage||
|Validation Efficiency||100% (52/52)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Sec61 complex is the central component of the protein translocation apparatus of the endoplasmic reticulum (ER) membrane. The protein encoded by this gene and SEC63 protein are found to be associated with ribosome-free SEC61 complex. It is speculated that Sec61-Sec62-Sec63 may perform post-translational protein translocation into the ER. The Sec61-Sec62-Sec63 complex might also perform the backward transport of ER proteins that are subject to the ubiquitin-proteasome-dependent degradation pathway. The encoded protein is an integral membrane protein located in the rough ER. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sec62||
(F):5'- ATGTGCTCTTTATTGTCCTGTGC -3'
(R):5'- AGGAAACCTGTGTTGTACTAAGCT -3'
(F):5'- GCTCTTTATTGTCCTGTGCTCATAAG -3'
(R):5'- CTCAAATGAAGTCAAATCTGATTC -3'