Incidental Mutation 'IGL01869:Ggps1'
ID 178656
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ggps1
Ensembl Gene ENSMUSG00000021302
Gene Name geranylgeranyl diphosphate synthase 1
Synonyms 1810026C22Rik, 9530089B04Rik, GGPP synthase
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01869
Quality Score
Status
Chromosome 13
Chromosomal Location 14225244-14238073 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14228979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 68 (D68G)
Ref Sequence ENSEMBL: ENSMUSP00000152645 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170957] [ENSMUST00000221338] [ENSMUST00000221713] [ENSMUST00000221953] [ENSMUST00000222164] [ENSMUST00000222687] [ENSMUST00000223090] [ENSMUST00000222747] [ENSMUST00000223174]
AlphaFold Q9WTN0
Predicted Effect probably damaging
Transcript: ENSMUST00000170957
AA Change: D68G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126603
Gene: ENSMUSG00000021302
AA Change: D68G

DomainStartEndE-ValueType
Pfam:polyprenyl_synt 14 256 2.8e-63 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000221338
AA Change: D68G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221406
Predicted Effect probably benign
Transcript: ENSMUST00000221713
Predicted Effect probably damaging
Transcript: ENSMUST00000221953
AA Change: D68G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222164
AA Change: D68G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222687
AA Change: D14G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223090
AA Change: D21G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000222747
AA Change: D68G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000223174
AA Change: D68G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000223329
Coding Region Coverage
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700026F02Rik A G 8: 71,495,689 (GRCm39) noncoding transcript Het
Adam29 T C 8: 56,324,732 (GRCm39) H574R probably damaging Het
Arap1 C A 7: 101,049,490 (GRCm39) T984K probably damaging Het
Ccdc146 A T 5: 21,521,837 (GRCm39) S396T probably benign Het
Col6a3 T C 1: 90,700,770 (GRCm39) K2587E unknown Het
Cyp3a44 A G 5: 145,727,496 (GRCm39) S278P probably damaging Het
Daw1 T G 1: 83,159,965 (GRCm39) probably benign Het
Dnah17 T C 11: 117,943,502 (GRCm39) K3200R probably benign Het
Efhd2 A G 4: 141,601,913 (GRCm39) F89S probably damaging Het
Fras1 A G 5: 96,856,642 (GRCm39) probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm3604 A T 13: 62,517,954 (GRCm39) C134S probably damaging Het
Gpaa1 A G 15: 76,217,198 (GRCm39) T178A probably benign Het
Lama3 A G 18: 12,657,820 (GRCm39) N312S possibly damaging Het
Npepps T C 11: 97,126,948 (GRCm39) I437M probably damaging Het
Or10q12 A G 19: 13,746,534 (GRCm39) D276G probably benign Het
Or11i1 C T 3: 106,729,342 (GRCm39) D178N probably benign Het
Rcor1 C A 12: 111,070,193 (GRCm39) T330K possibly damaging Het
Sbno2 A G 10: 79,896,226 (GRCm39) probably null Het
Sema3g A G 14: 30,945,624 (GRCm39) E478G probably damaging Het
Smg9 A G 7: 24,115,949 (GRCm39) D280G probably damaging Het
Smtnl1 A T 2: 84,641,741 (GRCm39) *460R probably null Het
Syde1 A G 10: 78,424,753 (GRCm39) C360R possibly damaging Het
Szt2 A G 4: 118,256,268 (GRCm39) V197A possibly damaging Het
Tnrc6c T C 11: 117,646,274 (GRCm39) V1405A possibly damaging Het
Ttbk1 A G 17: 46,757,989 (GRCm39) S882P probably damaging Het
Tubgcp4 T A 2: 121,006,269 (GRCm39) H116Q possibly damaging Het
Vmn1r192 T A 13: 22,371,750 (GRCm39) N157Y probably damaging Het
Vmn1r60 C T 7: 5,547,228 (GRCm39) V291M probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Xpo5 C T 17: 46,553,133 (GRCm39) P1184L possibly damaging Het
Zfp946 T G 17: 22,673,684 (GRCm39) I146S probably benign Het
Other mutations in Ggps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00337:Ggps1 APN 13 14,228,973 (GRCm39) missense probably damaging 1.00
R0319:Ggps1 UTSW 13 14,228,462 (GRCm39) missense possibly damaging 0.94
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
Posted On 2014-05-07