|Institutional Source||Beutler Lab|
|Gene Name||component of oligomeric golgi complex 5|
|Synonyms||5430405C01Rik, GOLTC1, GTC90|
|Is this an essential gene?||Probably essential (E-score: 0.879)|
|Stock #||R7056 (G1)|
|Chromosomal Location||31654869-31937630 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 31665469 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 80 (V80A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044797 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036862]|
AA Change: V80A
PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: V80A
|Meta Mutation Damage Score||0.1443|
|Coding Region Coverage||
|Validation Efficiency||100% (62/62)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. The encoded protein is organized with conserved oligomeric Golgi complex components 6, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants. Mutations in this gene result in congenital disorder of glycosylation type 2I.[provided by RefSeq, Jan 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cog5||
(F):5'- GGTTAGCACTATACACTTTTGCTCTG -3'
(R):5'- ACAGCACAGTCTGTATGGCC -3'
(F):5'- GCACTATACACTTTTGCTCTGTATTG -3'
(R):5'- GTCTGTATGGCCCACACAATC -3'