|Institutional Source||Beutler Lab|
|Gene Name||protein geranylgeranyltransferase type I, beta subunit|
|Synonyms||BGG1, GGT1, 2010207C17Rik|
|Is this an essential gene?||Probably essential (E-score: 0.952)|
|Stock #||R6225 (G1)|
|Chromosomal Location||46239949-46280850 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 46274607 bp|
|Amino Acid Change||Valine to Alanine at position 81 (V81A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025354 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025354]|
|Predicted Effect||possibly damaging
AA Change: V81A
PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: V81A
|Meta Mutation Damage Score||0.1545|
|Coding Region Coverage||
|Validation Efficiency||100% (74/74)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein geranylgeranyltransferase type I (GGTase-I) transfers a geranylgeranyl group to the cysteine residue of candidate proteins containing a C-terminal CAAX motif in which 'A' is an aliphatic amino acid and 'X' is leucine (summarized by Zhang et al., 1994 [PubMed 8106351]). The enzyme is composed of a 48-kD alpha subunit (FNTA; MIM 134635) and a 43-kD beta subunit, encoded by the PGGT1B gene. The FNTA gene encodes the alpha subunit for both GGTase-I and the related enzyme farnesyltransferase.[supplied by OMIM, Mar 2010]
PHENOTYPE: Homozygous inactivation of this gene blocks proliferation of primary mouse fibroblasts, disrupts the actin cytoskeleton, and results in altered cell morphology and reduced cell migration in a standard wound healing assay. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pggt1b||
(F):5'- ATCTGGGCAGAAAGGGATCC -3'
(R):5'- TCCGGTGACTGAGAATACATTGTG -3'
(F):5'- GCAGAAAGGGATCCTGAACTAC -3'
(R):5'- TTTTAAAAGTAGGAGGAAGGGTTTGC -3'