|Institutional Source||Beutler Lab|
|Gene Name||coatomer protein complex, subunit beta 1|
|Is this an essential gene?||Probably essential (E-score: 0.960)|
|Stock #||R2257 (G1)|
|Chromosomal Location||114215559-114254711 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 114253875 bp|
|Amino Acid Change||Aspartic acid to Valine at position 29 (D29V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000033012 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033012]|
|Predicted Effect||possibly damaging
AA Change: D29V
PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: D29V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.3289|
|Coding Region Coverage||
|Validation Efficiency||96% (70/73)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein subunit of the coatomer complex associated with non-clathrin coated vesicles. The coatomer complex, also known as the coat protein complex 1, forms in the cytoplasm and is recruited to the Golgi by activated guanosine triphosphatases. Once at the Golgi membrane, the coatomer complex may assist in the movement of protein and lipid components back to the endoplasmic reticulum. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Copb1||
(F):5'- CTTACATCATCAGAGAAGTTGAAAGT -3'
(R):5'- ATTTGCGGAATTTGTCTCCCT -3'
(F):5'- CTATTAGTGAGTTCCAGGCTGACC -3'
(R):5'- AGATTTTCCTGGCACCTTTC -3'