|Institutional Source||Beutler Lab|
|Gene Name||Sec61 alpha 1 subunit (S. cerevisiae)|
|Is this an essential gene?||Probably essential (E-score: 0.950)|
|Stock #||R7510 (G1)|
|Chromosomal Location||88503579-88518905 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 88512603 bp|
|Amino Acid Change||Phenylalanine to Isoleucine at position 119 (F119I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032168 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032168]|
|Predicted Effect||probably benign
AA Change: F119I
PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: F119I
|Meta Mutation Damage Score||0.1632|
|Coding Region Coverage||
|Validation Efficiency||97% (65/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the SECY/SEC61- alpha family. It appears to play a crucial role in the insertion of secretory and membrane polypeptides into the endoplasmic reticulum. This protein found to be tightly associated with membrane-bound ribosomes, either directly or through adaptor proteins. This gene encodes an alpha subunit of the heteromeric SEC61 complex, which also contains beta and gamma subunits. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit decreased body weight, hyperglycemia, hypoinsulinemia, impaired glucose tolerance, apoptosis of beta-cells, and enlarged and pale liver with hepatic steatosis and cirrhosis when fed a high fat diet. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sec61a1||
(F):5'- TAAGGCACAGCTGAGATTTGG -3'
(R):5'- CACATTTGCCACATGTCAACTC -3'
(F):5'- AAGGCACAGCTGAGATTTGGTATTTG -3'
(R):5'- TCCTTCTACATTACCAAGAGACTGG -3'