Incidental Mutation 'R0319:Ggps1'
ID 25578
Institutional Source Beutler Lab
Gene Symbol Ggps1
Ensembl Gene ENSMUSG00000021302
Gene Name geranylgeranyl diphosphate synthase 1
Synonyms 1810026C22Rik, 9530089B04Rik, GGPP synthase
MMRRC Submission 038529-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0319 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 14225244-14238073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 14228462 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 240 (N240K)
Ref Sequence ENSEMBL: ENSMUSP00000126603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170957] [ENSMUST00000221338] [ENSMUST00000221713] [ENSMUST00000221953] [ENSMUST00000222164] [ENSMUST00000222687] [ENSMUST00000222747] [ENSMUST00000223174] [ENSMUST00000223090]
AlphaFold Q9WTN0
Predicted Effect possibly damaging
Transcript: ENSMUST00000170957
AA Change: N240K

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126603
Gene: ENSMUSG00000021302
AA Change: N240K

DomainStartEndE-ValueType
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: ENSMUST00000223174
Predicted Effect probably benign
Transcript: ENSMUST00000223329
Predicted Effect probably benign
Transcript: ENSMUST00000223090
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 95.0%
  • 20x: 89.1%
Validation Efficiency 100% (58/58)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130023H24Rik A C 7: 127,836,362 (GRCm39) V77G probably benign Het
Abcb1b A G 5: 8,877,428 (GRCm39) R663G probably benign Het
Acly A G 11: 100,395,808 (GRCm39) V404A probably damaging Het
Actg2 T A 6: 83,497,725 (GRCm39) I103F probably damaging Het
Anapc5 A G 5: 122,956,919 (GRCm39) V120A probably damaging Het
Ankk1 T G 9: 49,327,371 (GRCm39) T603P probably damaging Het
Ankmy2 T C 12: 36,215,898 (GRCm39) S33P possibly damaging Het
Arhgef19 A T 4: 140,983,710 (GRCm39) T748S possibly damaging Het
Atad5 T A 11: 80,011,616 (GRCm39) probably benign Het
Atxn10 T C 15: 85,249,483 (GRCm39) L105P probably damaging Het
Cacna1s T C 1: 135,998,455 (GRCm39) V161A probably damaging Het
Col6a3 T C 1: 90,735,426 (GRCm39) E741G possibly damaging Het
Cpne9 G A 6: 113,271,654 (GRCm39) G338E probably damaging Het
Cyp3a13 G A 5: 137,897,124 (GRCm39) P397S probably damaging Het
Dbn1 C T 13: 55,622,729 (GRCm39) E585K probably damaging Het
Draxin A G 4: 148,200,429 (GRCm39) L7P probably benign Het
Exosc7 T A 9: 122,960,025 (GRCm39) probably benign Het
Far2 A G 6: 148,058,968 (GRCm39) E218G probably damaging Het
Kcnip1 T C 11: 33,601,529 (GRCm39) probably benign Het
Kcnv2 A T 19: 27,301,424 (GRCm39) Y425F probably benign Het
Kdelr2 T A 5: 143,398,272 (GRCm39) F40I probably damaging Het
Kdm1b C T 13: 47,207,195 (GRCm39) P173L probably benign Het
Kif20b G A 19: 34,925,132 (GRCm39) probably benign Het
Klhl9 A T 4: 88,638,691 (GRCm39) Y517N possibly damaging Het
Lgals3bp A G 11: 118,284,347 (GRCm39) S411P probably damaging Het
Lmo3 G A 6: 138,354,309 (GRCm39) T85M probably damaging Het
Lvrn C A 18: 46,997,820 (GRCm39) T256N probably damaging Het
Malt1 T C 18: 65,595,986 (GRCm39) probably null Het
Mgst1 A G 6: 138,133,155 (GRCm39) I157V possibly damaging Het
Mob3a A T 10: 80,525,819 (GRCm39) V164E possibly damaging Het
Mprip T A 11: 59,587,864 (GRCm39) probably benign Het
Mst1 A G 9: 107,959,712 (GRCm39) N276S probably benign Het
Or5an1b A T 19: 12,299,680 (GRCm39) C170* probably null Het
P3h2 T A 16: 25,789,681 (GRCm39) I529F possibly damaging Het
Pikfyve T A 1: 65,285,490 (GRCm39) S865T probably benign Het
Rcbtb2 G A 14: 73,415,909 (GRCm39) R474Q probably benign Het
Rpl27 G A 11: 101,334,321 (GRCm39) probably benign Het
Rtp1 G A 16: 23,250,210 (GRCm39) E192K probably damaging Het
Sgk2 T C 2: 162,837,592 (GRCm39) probably benign Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc49a4 T C 16: 35,570,884 (GRCm39) D140G probably benign Het
Spdl1 T C 11: 34,714,347 (GRCm39) N114S possibly damaging Het
Syne2 C T 12: 76,110,936 (GRCm39) R5756W probably damaging Het
Tor1aip1 T C 1: 155,882,927 (GRCm39) E307G probably damaging Het
Tpd52 T C 3: 9,018,749 (GRCm39) T44A probably benign Het
Trim67 A T 8: 125,549,966 (GRCm39) Y532F probably damaging Het
Ttll9 C A 2: 152,842,018 (GRCm39) probably null Het
Ush2a T C 1: 188,680,571 (GRCm39) probably benign Het
Vcam1 T C 3: 115,909,709 (GRCm39) I539M probably benign Het
Vmn1r19 T A 6: 57,381,600 (GRCm39) M51K possibly damaging Het
Vmn2r61 T A 7: 41,949,941 (GRCm39) M787K probably damaging Het
Xdh T A 17: 74,213,096 (GRCm39) probably benign Het
Zfp109 A T 7: 23,933,895 (GRCm39) V8E probably damaging Het
Zfp595 G A 13: 67,464,577 (GRCm39) A562V possibly damaging Het
Zfp759 A G 13: 67,288,356 (GRCm39) T636A probably benign Het
Other mutations in Ggps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Ggps1 APN 13 14,228,973 (GRCm39) missense probably damaging 1.00
IGL01869:Ggps1 APN 13 14,228,979 (GRCm39) missense probably damaging 1.00
R3893:Ggps1 UTSW 13 14,228,284 (GRCm39) missense probably benign
R4049:Ggps1 UTSW 13 14,228,284 (GRCm39) missense probably benign
R4050:Ggps1 UTSW 13 14,228,284 (GRCm39) missense probably benign
R6003:Ggps1 UTSW 13 14,228,587 (GRCm39) missense probably benign 0.05
R6021:Ggps1 UTSW 13 14,228,589 (GRCm39) missense probably damaging 1.00
R6283:Ggps1 UTSW 13 14,232,379 (GRCm39) critical splice donor site probably null
R7009:Ggps1 UTSW 13 14,228,750 (GRCm39) nonsense probably null
R7853:Ggps1 UTSW 13 14,229,034 (GRCm39) missense probably benign 0.00
R8786:Ggps1 UTSW 13 14,228,505 (GRCm39) missense probably benign 0.01
R8933:Ggps1 UTSW 13 14,228,928 (GRCm39) missense probably benign 0.11
R9514:Ggps1 UTSW 13 14,229,742 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- TGGGATGAAGCCACTCCTCATTTTC -3'
(R):5'- CTTAACCCTTGATCACCCGGATGC -3'

Sequencing Primer
(F):5'- CTGAAAGAAGCTACTGAGTCTAATCC -3'
(R):5'- CCTCGATATTTACTGGAGGGACAC -3'
Posted On 2013-04-16