|Institutional Source||Beutler Lab|
|Gene Name||SEC63-like (S. cerevisiae)|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R0906 (G1)|
|Chromosomal Location||42761496-42832514 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 42801928 bp (GRCm38)|
|Amino Acid Change||Methionine to Lysine at position 312 (M312K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000019937 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000019937]|
AA Change: M312K
PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: M312K
|Meta Mutation Damage Score||0.2218|
|Coding Region Coverage||
|Validation Efficiency||100% (33/33)|
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 SEC62 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]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice homozygous for a conditional allele activated in the kidneys or ubiquitously develop polycystic kidney and liver phenotypes, respectively. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sec63||
(F):5'- GATTCCACAAGCAGGCCAACAGATAATA -3'
(R):5'- AACGCTTCTGCTAACCTGCAACT -3'
(F):5'- ATACCACAGGTTAGGCTCATCTTAC -3'
(R):5'- GCTTCGGTCCCTTAAAACCCTT -3'