|List |< first << previous [record 13 of 56] next >> last >||
|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: 0.917)|
|Stock #||R2167 (G1)|
|Chromosomal Location||31654869-31937630 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 31837289 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 470 (F470L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044797 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000036862]|
|Predicted Effect||probably damaging
AA Change: F470L
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: F470L
|Meta Mutation Damage Score||0.5465|
|Coding Region Coverage||
|Validation Efficiency||98% (57/58)|
|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'- GTAGGTGTTCAGTTATGAAGCATGC -3'
(R):5'- ATTGAACCCTAATCACTAGACTGG -3'
(F):5'- TGAAGCATGCTTGTAAATGTGC -3'
(R):5'- CCCTAATCACTAGACTGGTTTGAGG -3'