Incidental Mutation 'R9781:Pggt1b'
ID 734088
Institutional Source Beutler Lab
Gene Symbol Pggt1b
Ensembl Gene ENSMUSG00000024477
Gene Name protein geranylgeranyltransferase type I, beta subunit
Synonyms BGG1, GGT1, 2010207C17Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R9781 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 46368418-46414060 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 46392779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 124 (M124K)
Ref Sequence ENSEMBL: ENSMUSP00000025354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025354]
AlphaFold Q8BUY9
Predicted Effect probably damaging
Transcript: ENSMUST00000025354
AA Change: M124K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025354
Gene: ENSMUSG00000024477
AA Change: M124K

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.1%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,519,860 (GRCm39) F1386L probably benign Het
Aoc1l2 G A 6: 48,907,660 (GRCm39) S220N possibly damaging Het
Ap3d1 A C 10: 80,545,609 (GRCm39) L1040R possibly damaging Het
Bag4 T A 8: 26,259,564 (GRCm39) N212Y probably damaging Het
Bop1 A T 15: 76,338,041 (GRCm39) S610T probably damaging Het
Car12 T G 9: 66,624,844 (GRCm39) S30A probably benign Het
Ccdc14 A T 16: 34,543,984 (GRCm39) T829S possibly damaging Het
Ccn6 T A 10: 39,027,167 (GRCm39) *355L probably null Het
Cdc14a A T 3: 116,122,274 (GRCm39) I231N probably benign Het
Ceacam14 A T 7: 17,549,082 (GRCm39) I158F possibly damaging Het
Clca4a G T 3: 144,667,713 (GRCm39) S419R probably benign Het
Clec2g A G 6: 128,960,012 (GRCm39) N258D probably benign Het
Cntn5 A C 9: 10,048,686 (GRCm39) probably null Het
Col5a3 T A 9: 20,721,272 (GRCm39) S72C unknown Het
Dmbt1 G C 7: 130,639,599 (GRCm39) V46L probably benign Het
Dnah7b A G 1: 46,376,754 (GRCm39) probably null Het
Dnase1 T C 16: 3,857,054 (GRCm39) S204P probably benign Het
Dnhd1 A G 7: 105,352,917 (GRCm39) E2690G probably benign Het
Dst T C 1: 34,218,075 (GRCm39) L1505P probably benign Het
Dzip1 G A 14: 119,148,834 (GRCm39) L282F probably benign Het
E330034G19Rik A G 14: 24,359,528 (GRCm39) E313G unknown Het
Epc1 A T 18: 6,455,187 (GRCm39) probably null Het
Herc1 T C 9: 66,280,004 (GRCm39) M304T probably benign Het
Herc2 A T 7: 55,750,096 (GRCm39) I594F possibly damaging Het
Hivep2 T A 10: 14,005,828 (GRCm39) S809T probably benign Het
Hnrnph3 A T 10: 62,853,861 (GRCm39) M132K unknown Het
Hrnr A T 3: 93,239,696 (GRCm39) R3311S unknown Het
Jph3 T C 8: 122,457,380 (GRCm39) F7L probably damaging Het
Med13l C T 5: 118,868,032 (GRCm39) T732M possibly damaging Het
Mocos A T 18: 24,828,939 (GRCm39) H748L probably benign Het
Mrc1 A G 2: 14,249,100 (GRCm39) H212R probably benign Het
Mrc1 A T 2: 14,310,175 (GRCm39) Y812F possibly damaging Het
Mthfr T C 4: 148,132,710 (GRCm39) I296T probably damaging Het
Ncdn G A 4: 126,642,467 (GRCm39) R397W probably damaging Het
Nefh G A 11: 4,895,271 (GRCm39) T306I probably damaging Het
Nme7 C A 1: 164,155,890 (GRCm39) A30E possibly damaging Het
Or52z15 T A 7: 103,332,246 (GRCm39) M97K probably damaging Het
Pappa T A 4: 65,043,104 (GRCm39) L109Q possibly damaging Het
Pcdha2 A G 18: 37,074,102 (GRCm39) S578G probably benign Het
Pcf11 A T 7: 92,297,228 (GRCm39) D1361E possibly damaging Het
Pcm1 T C 8: 41,720,398 (GRCm39) S320P probably damaging Het
Pex19 T A 1: 171,956,855 (GRCm39) F105Y probably damaging Het
Pgap4 C T 4: 49,586,890 (GRCm39) V93I probably benign Het
Phkg1 T A 5: 129,895,807 (GRCm39) H148L probably damaging Het
Phlpp2 G T 8: 110,662,178 (GRCm39) R855L possibly damaging Het
Pkhd1 T A 1: 20,187,665 (GRCm39) I3548L possibly damaging Het
Plce1 T G 19: 38,513,654 (GRCm39) S318A probably damaging Het
Plcxd2 A G 16: 45,830,117 (GRCm39) W35R probably benign Het
Prl2b1 T A 13: 27,569,129 (GRCm39) E156D possibly damaging Het
Ptpn21 A G 12: 98,655,170 (GRCm39) V599A probably damaging Het
Raly T C 2: 154,699,265 (GRCm39) V23A probably damaging Het
Rapgef3 T C 15: 97,643,479 (GRCm39) I911V probably damaging Het
Rhbdl1 A G 17: 26,055,443 (GRCm39) V48A probably benign Het
Rhpn1 C T 15: 75,582,543 (GRCm39) Q212* probably null Het
Sec24b G T 3: 129,789,742 (GRCm39) P760T probably damaging Het
Septin8 C A 11: 53,422,889 (GRCm39) Q33K probably damaging Het
Serpinb6a T C 13: 34,109,346 (GRCm39) T150A probably benign Het
Shmt1 A T 11: 60,692,329 (GRCm39) H142Q probably damaging Het
Slc27a3 G A 3: 90,296,591 (GRCm39) S127L Het
Slc4a5 G A 6: 83,239,466 (GRCm39) A242T probably benign Het
Sphkap G A 1: 83,255,772 (GRCm39) T659I possibly damaging Het
Ssbp3 T C 4: 106,905,224 (GRCm39) S381P probably damaging Het
Stxbp5l C T 16: 37,165,485 (GRCm39) D78N probably benign Het
Suv39h2 G T 2: 3,463,631 (GRCm39) Q362K probably benign Het
Tcerg1 G A 18: 42,701,030 (GRCm39) R828Q probably damaging Het
Tgm2 T G 2: 157,971,321 (GRCm39) D306A probably damaging Het
Tmem79 A G 3: 88,239,931 (GRCm39) C260R possibly damaging Het
Ubn2 C A 6: 38,466,190 (GRCm39) A508E probably benign Het
Uggt2 T A 14: 119,232,384 (GRCm39) H1489L possibly damaging Het
Wnt16 T C 6: 22,291,114 (GRCm39) F181L probably damaging Het
Zfp326 T C 5: 106,062,825 (GRCm39) F565L unknown Het
Zfp62 T A 11: 49,106,297 (GRCm39) C129* probably null 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
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
Predicted Primers PCR Primer
(F):5'- TGTAGCACTATGCCCAGTTTTCTTG -3'
(R):5'- AGCTTGTAAGAAGACGTATTGAGAC -3'

Sequencing Primer
(F):5'- GCCCAGTTTTCTTGAGTTCTAAATG -3'
(R):5'- AATTAAGGCATGTTTTCCTCAGTTGG -3'
Posted On 2022-11-14