Incidental Mutation 'R3116:Fdft1'
ID 264043
Institutional Source Beutler Lab
Gene Symbol Fdft1
Ensembl Gene ENSMUSG00000021273
Gene Name farnesyl diphosphate farnesyl transferase 1
Synonyms squalene synthase, SQS, Ss
MMRRC Submission 040589-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3116 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 63382599-63417027 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63415147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 28 (I28M)
Ref Sequence ENSEMBL: ENSMUSP00000153238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038229] [ENSMUST00000054963] [ENSMUST00000223810] [ENSMUST00000224625] [ENSMUST00000225157] [ENSMUST00000225841] [ENSMUST00000226002]
AlphaFold P53798
Predicted Effect probably benign
Transcript: ENSMUST00000038229
SMART Domains Protein: ENSMUSP00000045200
Gene: ENSMUSG00000035121

DomainStartEndE-ValueType
Blast:Fapy_DNA_glyco 2 177 7e-94 BLAST
H2TH 188 272 1.47e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000054963
AA Change: I28M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000055313
Gene: ENSMUSG00000021273
AA Change: I28M

DomainStartEndE-ValueType
Pfam:SQS_PSY 47 320 2.1e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223810
AA Change: I28M

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000224625
AA Change: I28M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000225157
Predicted Effect probably benign
Transcript: ENSMUST00000225841
Predicted Effect probably benign
Transcript: ENSMUST00000226002
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation die around E9.5-10.5. Conditional homozygous null in which the gene is deleted specifically in oligodendrocyte and Schwann cell display dysmyelination of spinal cord and brain white matter, and showed ataxia and tremor. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,946,610 (GRCm39) I37F possibly damaging Het
Aoc1l3 A G 6: 48,964,331 (GRCm39) Y113C probably damaging Het
Ccdc146 T C 5: 21,521,953 (GRCm39) N357S probably benign Het
Csmd3 A G 15: 47,520,995 (GRCm39) F2783S probably damaging Het
Desi2 T A 1: 178,072,008 (GRCm39) M104K probably damaging Het
Disp1 C T 1: 182,870,486 (GRCm39) V645I probably benign Het
Dock8 A T 19: 25,165,858 (GRCm39) H1914L probably benign Het
Ffar3 T C 7: 30,555,231 (GRCm39) M30V probably benign Het
Grm3 A T 5: 9,620,752 (GRCm39) F164Y probably damaging Het
Ints5 T C 19: 8,872,136 (GRCm39) S32P possibly damaging Het
Itgam T A 7: 127,715,201 (GRCm39) S908R probably damaging Het
Kif20b C T 19: 34,947,480 (GRCm39) P1565L probably benign Het
Kntc1 A G 5: 123,940,121 (GRCm39) E1610G probably damaging Het
Krt24 T A 11: 99,173,262 (GRCm39) T298S possibly damaging Het
Magoh T C 4: 107,744,409 (GRCm39) V126A possibly damaging Het
Marchf6 G A 15: 31,486,265 (GRCm39) S362F probably benign Het
Meak7 G A 8: 120,495,056 (GRCm39) A234V probably benign Het
Mier3 T A 13: 111,843,182 (GRCm39) I178N probably damaging Het
Moxd1 G T 10: 24,177,429 (GRCm39) E582* probably null Het
Ncor2 A T 5: 125,101,230 (GRCm39) L2195Q probably damaging Het
Neil1 A T 9: 57,053,947 (GRCm39) D124E probably benign Het
Nhsl1 A T 10: 18,400,916 (GRCm39) Q714L probably damaging Het
Nipbl T A 15: 8,373,076 (GRCm39) M1057L probably benign Het
Npas3 G A 12: 54,114,508 (GRCm39) probably null Het
Oas1h C T 5: 120,999,679 (GRCm39) Q55* probably null Het
Or2a5 T C 6: 42,873,784 (GRCm39) V133A probably benign Het
Or2ag2b T A 7: 106,417,571 (GRCm39) F94I probably damaging Het
Or52h9 C A 7: 104,202,295 (GRCm39) H56Q probably benign Het
Or5p61 T C 7: 107,759,029 (GRCm39) E17G probably benign Het
Or7d9 A T 9: 20,197,523 (GRCm39) H176L probably benign Het
Phactr2 C A 10: 13,137,645 (GRCm39) E166* probably null Het
Prkdc C T 16: 15,482,222 (GRCm39) L422F probably benign Het
Pum1 T C 4: 130,499,971 (GRCm39) V1051A probably damaging Het
Pxdn T C 12: 30,052,306 (GRCm39) S828P possibly damaging Het
Rad21 T A 15: 51,828,397 (GRCm39) E557V probably null Het
Rtn3 T G 19: 7,409,355 (GRCm39) N888H probably damaging Het
Slc12a5 T A 2: 164,838,101 (GRCm39) probably null Het
Slc7a11 T A 3: 50,338,588 (GRCm39) M274L probably benign Het
Tacc2 A G 7: 130,360,979 (GRCm39) N825S probably damaging Het
Tln2 T A 9: 67,262,421 (GRCm39) D610V probably benign Het
Tmed11 C T 5: 108,927,705 (GRCm39) V110M probably damaging Het
Tmem92 T C 11: 94,673,254 (GRCm39) D3G possibly damaging Het
Trp53rkb C T 2: 166,636,009 (GRCm39) probably benign Het
Wdr91 A G 6: 34,882,522 (GRCm39) L209P probably damaging Het
Zfp511 T A 7: 139,616,504 (GRCm39) D46E probably benign Het
Zfp804a C A 2: 82,089,761 (GRCm39) Q1197K probably damaging Het
Other mutations in Fdft1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03035:Fdft1 APN 14 63,400,838 (GRCm39) nonsense probably null
PIT4515001:Fdft1 UTSW 14 63,402,032 (GRCm39) missense probably benign 0.30
R0012:Fdft1 UTSW 14 63,415,147 (GRCm39) missense probably benign 0.03
R0442:Fdft1 UTSW 14 63,400,798 (GRCm39) missense probably benign 0.29
R0735:Fdft1 UTSW 14 63,400,869 (GRCm39) missense probably damaging 1.00
R1674:Fdft1 UTSW 14 63,402,034 (GRCm39) missense probably benign 0.20
R1689:Fdft1 UTSW 14 63,394,138 (GRCm39) missense probably benign 0.00
R3418:Fdft1 UTSW 14 63,394,070 (GRCm39) missense probably damaging 1.00
R5033:Fdft1 UTSW 14 63,400,853 (GRCm39) missense probably damaging 1.00
R5274:Fdft1 UTSW 14 63,389,792 (GRCm39) missense probably damaging 1.00
R5371:Fdft1 UTSW 14 63,388,750 (GRCm39) missense probably damaging 1.00
R5747:Fdft1 UTSW 14 63,384,288 (GRCm39) missense probably damaging 1.00
R6343:Fdft1 UTSW 14 63,388,721 (GRCm39) missense probably damaging 1.00
R9360:Fdft1 UTSW 14 63,415,189 (GRCm39) nonsense probably null
R9522:Fdft1 UTSW 14 63,396,597 (GRCm39) critical splice acceptor site probably null
R9764:Fdft1 UTSW 14 63,400,869 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCTTGAACAGACAGAAACCTTG -3'
(R):5'- ATCAACGTCCGTCAGTCCAC -3'

Sequencing Primer
(F):5'- GTGTCAGAGACCATCCAT -3'
(R):5'- GTCCGTCAGTCCACTCCGC -3'
Posted On 2015-02-05