Incidental Mutation 'P0035:Pggt1b'
ID 7650
Institutional Source Beutler Lab
Gene Symbol Pggt1b
Ensembl Gene ENSMUSG00000024477
Gene Name protein geranylgeranyltransferase type I, beta subunit
Synonyms BGG1, GGT1, 2010207C17Rik
MMRRC Submission 038285-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # P0035 (G1)
Quality Score
Status Validated
Chromosome 18
Chromosomal Location 46368418-46414060 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 46392787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 121 (H121Q)
Ref Sequence ENSEMBL: ENSMUSP00000025354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025354]
AlphaFold Q8BUY9
Predicted Effect probably damaging
Transcript: ENSMUST00000025354
AA Change: H121Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025354
Gene: ENSMUSG00000024477
AA Change: H121Q

DomainStartEndE-ValueType
Pfam:Prenyltrans 142 186 8.6e-10 PFAM
Pfam:Prenyltrans 191 234 2.2e-10 PFAM
Pfam:Prenyltrans 240 284 4.8e-10 PFAM
Pfam:Prenyltrans 289 333 4e-12 PFAM
Meta Mutation Damage Score 0.8707 question?
Coding Region Coverage
  • 1x: 79.0%
  • 3x: 68.4%
  • 10x: 37.5%
  • 20x: 15.8%
Validation Efficiency 82% (103/125)
MGI Phenotype 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
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brd4 C T 17: 32,431,812 (GRCm39) probably null Het
Bub1b G A 2: 118,452,666 (GRCm39) E440K probably damaging Het
Cfap70 A G 14: 20,474,539 (GRCm39) probably benign Het
Cryba2 A G 1: 74,929,171 (GRCm39) S191P probably damaging Het
Dsg3 A C 18: 20,673,026 (GRCm39) N899T probably benign Het
Htr2b A T 1: 86,038,452 (GRCm39) H51Q probably benign Het
Lmod2 T C 6: 24,597,885 (GRCm39) S2P probably damaging Het
Lrrc37a T A 11: 103,393,958 (GRCm39) E489V possibly damaging Het
Mdn1 A T 4: 32,749,934 (GRCm39) Q4372H probably benign Het
Med13l C T 5: 118,880,685 (GRCm39) T1259I probably benign Het
Muc4 T C 16: 32,580,622 (GRCm39) probably benign Het
Pcsk2 C T 2: 143,637,871 (GRCm39) T369I probably damaging Het
Pkhd1 T C 1: 20,187,571 (GRCm39) D3579G probably benign Het
Psd T C 19: 46,309,400 (GRCm39) E520G possibly damaging Het
Scfd2 A T 5: 74,385,980 (GRCm39) M613K possibly damaging Het
Tbc1d32 A C 10: 56,074,535 (GRCm39) F226C probably damaging Het
Ttc8 T C 12: 98,942,675 (GRCm39) probably benign Het
Zfp462 T C 4: 55,009,086 (GRCm39) S351P probably benign Het
Other mutations in Pggt1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Pggt1b APN 18 46,413,786 (GRCm39) missense probably benign 0.06
IGL02012:Pggt1b APN 18 46,396,022 (GRCm39) missense probably benign
R0140:Pggt1b UTSW 18 46,391,150 (GRCm39) critical splice donor site probably null
R0448:Pggt1b UTSW 18 46,396,039 (GRCm39) splice site probably benign
R2097:Pggt1b UTSW 18 46,379,695 (GRCm39) missense probably benign
R4010:Pggt1b UTSW 18 46,382,003 (GRCm39) missense possibly damaging 0.93
R4839:Pggt1b UTSW 18 46,391,166 (GRCm39) missense possibly damaging 0.50
R5947:Pggt1b UTSW 18 46,382,007 (GRCm39) missense probably benign 0.25
R6225:Pggt1b UTSW 18 46,407,674 (GRCm39) missense possibly damaging 0.48
R9781:Pggt1b UTSW 18 46,392,779 (GRCm39) missense probably damaging 0.96
Posted On 2012-10-29