Incidental Mutation 'R4010:Pggt1b'
ID 311667
Institutional Source Beutler Lab
Gene Symbol Pggt1b
Ensembl Gene ENSMUSG00000024477
Gene Name protein geranylgeranyltransferase type I, beta subunit
Synonyms BGG1, GGT1, 2010207C17Rik
MMRRC Submission 040947-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R4010 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 46368418-46414060 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46382003 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 260 (Y260H)
Ref Sequence ENSEMBL: ENSMUSP00000025354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025354]
AlphaFold Q8BUY9
Predicted Effect possibly damaging
Transcript: ENSMUST00000025354
AA Change: Y260H

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025354
Gene: ENSMUSG00000024477
AA Change: Y260H

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 0.4742 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.6%
Validation Efficiency 100% (43/43)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T C 5: 88,120,136 (GRCm39) S298P probably damaging Het
Abca13 G A 11: 9,572,013 (GRCm39) probably benign Het
Abcc2 A G 19: 43,818,303 (GRCm39) N1263S possibly damaging Het
Acss2 T A 2: 155,399,548 (GRCm39) L529Q probably damaging Het
Adamts12 A G 15: 11,286,169 (GRCm39) T793A possibly damaging Het
Adsl T C 15: 80,850,357 (GRCm39) S359P probably benign Het
Ddx60 A T 8: 62,407,569 (GRCm39) D360V possibly damaging Het
Ddx60 A T 8: 62,409,178 (GRCm39) M405L probably benign Het
Frmd6 A G 12: 70,946,327 (GRCm39) N585S probably benign Het
Fxr1 G T 3: 34,119,171 (GRCm39) R580L probably benign Het
Ggt7 G A 2: 155,342,652 (GRCm39) T358M probably benign Het
Gm5435 G A 12: 82,543,089 (GRCm39) noncoding transcript Het
Gm5592 C T 7: 40,936,052 (GRCm39) H185Y probably benign Het
Ifit2 G T 19: 34,551,445 (GRCm39) M328I probably benign Het
Itgae T A 11: 73,002,165 (GRCm39) C90S probably benign Het
Kif1a G A 1: 92,950,131 (GRCm39) S1424F probably benign Het
Map2k2 T C 10: 80,944,769 (GRCm39) S94P probably damaging Het
Marveld2 C A 13: 100,747,936 (GRCm39) probably null Het
Or10a3m A T 7: 108,313,366 (GRCm39) I269L probably benign Het
Pdcl T C 2: 37,242,123 (GRCm39) Y209C probably damaging Het
Pde6c A G 19: 38,157,884 (GRCm39) E636G probably damaging Het
Pkhd1l1 T A 15: 44,392,496 (GRCm39) S1610R possibly damaging Het
Rel C T 11: 23,711,138 (GRCm39) V10I probably benign Het
Rpa2 T A 4: 132,497,960 (GRCm39) probably null Het
Rpain T G 11: 70,863,833 (GRCm39) probably benign Het
Rpl35rt T C 1: 156,193,724 (GRCm39) V26A probably benign Het
Ryr1 T C 7: 28,794,549 (GRCm39) T1237A probably benign Het
Safb T C 17: 56,910,765 (GRCm39) probably benign Het
Serpina3a A T 12: 104,084,902 (GRCm39) D99V probably benign Het
Setd2 A G 9: 110,428,263 (GRCm39) Q2320R probably null Het
Sh2d4a C T 8: 68,787,799 (GRCm39) R302C probably damaging Het
Slc19a2 T G 1: 164,088,451 (GRCm39) S300A probably damaging Het
Slc30a5 G A 13: 100,945,741 (GRCm39) A537V probably damaging Het
Strip2 A G 6: 29,955,584 (GRCm39) I717V possibly damaging Het
Supt16 A C 14: 52,401,898 (GRCm39) F924C probably damaging Het
Tekt4 T G 17: 25,695,460 (GRCm39) M431R probably damaging Het
Trim23 A G 13: 104,317,526 (GRCm39) probably benign Het
Tspear T C 10: 77,672,310 (GRCm39) probably benign Het
Usp39 C A 6: 72,313,468 (GRCm39) A241S probably benign Het
Vmn1r185 T A 7: 26,311,450 (GRCm39) L18F possibly damaging Het
Zfp213 T C 17: 23,777,064 (GRCm39) H326R possibly damaging Het
Zfp354c T A 11: 50,705,771 (GRCm39) I435F probably damaging Het
Zfp618 G A 4: 63,051,801 (GRCm39) A861T 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
P0035:Pggt1b UTSW 18 46,392,787 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GTATGGCTTCCTGATTAATTCCTG -3'
(R):5'- GTAGGCTAATGGGACTGTCC -3'

Sequencing Primer
(F):5'- CCTGATTAATTCCTGTTGTAGATGC -3'
(R):5'- GGACTGTCCCCTCTCCCG -3'
Posted On 2015-04-29