|Institutional Source||Beutler Lab|
|Gene Name||golgin, RAB6-interacting|
|Is this an essential gene?||Possibly non essential (E-score: 0.258)|
|Stock #||R7707 (G1)|
|Chromosomal Location||163384908-163403669 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 163392440 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 211 (D211G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036253 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045138] [ENSMUST00000186402]|
|Predicted Effect||probably damaging
AA Change: D211G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D211G
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||99% (72/73)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null gene trap allele exhibit hunched posture, craniofacial abnormalities, neonatal lethality, respiratory distress, skin edema, decreased hair follicles, fewer dermal condensates and papillae, and impaired formation of primary cilia on dermal condensate cells. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gorab||
(F):5'- TAAGCTATAGGACAGGTGGCC -3'
(R):5'- GCACAGGGCATTATTTTGTCTC -3'
(F):5'- GGCCACTTGAGTTAGCACATTACTG -3'
(R):5'- CACAGGGCATTATTTTGTCTCAATTC -3'