Incidental Mutation 'R3893:Ggps1'
Institutional Source Beutler Lab
Gene Symbol Ggps1
Ensembl Gene ENSMUSG00000021302
Gene Namegeranylgeranyl diphosphate synthase 1
SynonymsGGPP synthase, 9530089B04Rik, 1810026C22Rik
MMRRC Submission 040805-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R3893 (G1)
Quality Score225
Status Validated
Chromosomal Location14050659-14063488 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 14053699 bp
Amino Acid Change Lysine to Glutamic Acid at position 300 (K300E)
Ref Sequence ENSEMBL: ENSMUSP00000126603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170957] [ENSMUST00000221338] [ENSMUST00000221713] [ENSMUST00000221953] [ENSMUST00000222164] [ENSMUST00000222687] [ENSMUST00000222747] [ENSMUST00000223090] [ENSMUST00000223174]
Predicted Effect probably benign
Transcript: ENSMUST00000170957
AA Change: K300E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126603
Gene: ENSMUSG00000021302
AA Change: K300E

Pfam:polyprenyl_synt 14 256 2.8e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221338
Predicted Effect probably benign
Transcript: ENSMUST00000221713
Predicted Effect probably benign
Transcript: ENSMUST00000221953
Predicted Effect probably benign
Transcript: ENSMUST00000222164
Predicted Effect probably benign
Transcript: ENSMUST00000222687
Predicted Effect probably benign
Transcript: ENSMUST00000222747
Predicted Effect probably benign
Transcript: ENSMUST00000223090
Predicted Effect probably benign
Transcript: ENSMUST00000223174
Predicted Effect probably benign
Transcript: ENSMUST00000223329
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important molecule responsible for the C20-prenylation of proteins and for the regulation of a nuclear hormone receptor. Alternate transcriptional splice variants, both protein-coding and non-protein-coding, have been found for this gene. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik T A 1: 37,631,458 M134L probably benign Het
2610303G11Rik A T 9: 98,186,811 noncoding transcript Het
Adam19 C T 11: 46,128,838 A455V probably damaging Het
Akr1c19 G A 13: 4,238,442 D140N probably damaging Het
Atoh1 A G 6: 64,730,133 T271A probably damaging Het
Atp6v0a2 G A 5: 124,639,265 R168Q probably damaging Het
B930094E09Rik G A 18: 31,609,689 S59N unknown Het
Cadps A G 14: 12,488,883 probably benign Het
Cfap69 A T 5: 5,581,245 V61E probably damaging Het
Chd5 A G 4: 152,360,656 R365G probably damaging Het
Dnajc18 A T 18: 35,700,995 probably null Het
Fam49a T C 12: 12,362,525 V232A probably benign Het
Fmnl1 T A 11: 103,196,757 probably benign Het
Gca A G 2: 62,679,220 Y89C probably damaging Het
Gcnt2 A G 13: 40,860,446 Y31C probably benign Het
Gem C T 4: 11,705,889 probably benign Het
Gpc5 T C 14: 115,370,060 M358T probably benign Het
Gprin3 T C 6: 59,354,479 Y281C probably benign Het
H2-M11 A G 17: 36,547,090 T6A probably benign Het
Lrp5 G A 19: 3,612,330 R173C probably damaging Het
Lrrk1 T C 7: 66,278,520 probably benign Het
Macf1 A G 4: 123,486,406 Y1298H probably damaging Het
Micu3 C T 8: 40,366,224 L315F probably damaging Het
Pkd1 G A 17: 24,572,110 probably null Het
Pkhd1 A T 1: 20,312,138 Y2596* probably null Het
Pnliprp2 A G 19: 58,766,273 S250G probably benign Het
Prkcq A C 2: 11,226,971 E35A probably damaging Het
Prpf8 C A 11: 75,500,257 S1377R possibly damaging Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Rsbn1l C T 5: 20,905,840 R500H probably damaging Het
Sart3 C T 5: 113,746,636 E636K probably benign Het
Skint3 A G 4: 112,253,918 K80R probably damaging Het
Slc11a1 G A 1: 74,384,706 A398T probably damaging Het
Sspo G T 6: 48,476,571 E2887* probably null Het
Tmc5 A C 7: 118,645,369 Y490S probably damaging Het
Tmem181a T A 17: 6,295,786 L185H probably damaging Het
Tnfsf8 G T 4: 63,860,959 T34K possibly damaging Het
Trim5 T A 7: 104,276,835 N173I probably damaging Het
Vkorc1l1 A T 5: 129,982,271 I109L probably benign Het
Vmn1r214 A G 13: 23,034,641 T102A probably benign Het
Wdr19 A G 5: 65,228,292 D579G possibly damaging Het
Zc3h6 A G 2: 129,016,140 Y697C probably damaging Het
Zfp955b T C 17: 33,302,994 I479T probably benign Het
Other mutations in Ggps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Ggps1 APN 13 14054388 missense probably damaging 1.00
IGL01869:Ggps1 APN 13 14054394 missense probably damaging 1.00
R0319:Ggps1 UTSW 13 14053877 missense possibly damaging 0.94
R4049:Ggps1 UTSW 13 14053699 missense probably benign
R4050:Ggps1 UTSW 13 14053699 missense probably benign
R6003:Ggps1 UTSW 13 14054002 missense probably benign 0.05
R6021:Ggps1 UTSW 13 14054004 missense probably damaging 1.00
R6283:Ggps1 UTSW 13 14057794 critical splice donor site probably null
R7009:Ggps1 UTSW 13 14054165 nonsense probably null
R7853:Ggps1 UTSW 13 14054449 missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-04-17