Incidental Mutation 'R3418:Fdft1'
ID 266926
Institutional Source Beutler Lab
Gene Symbol Fdft1
Ensembl Gene ENSMUSG00000021273
Gene Name farnesyl diphosphate farnesyl transferase 1
Synonyms squalene synthase, SQS, Ss
MMRRC Submission 040636-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3418 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 63382599-63417027 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 63394070 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 214 (T214A)
Ref Sequence ENSEMBL: ENSMUSP00000153671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054963] [ENSMUST00000223810] [ENSMUST00000224625]
AlphaFold P53798
Predicted Effect probably damaging
Transcript: ENSMUST00000054963
AA Change: T214A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055313
Gene: ENSMUSG00000021273
AA Change: T214A

DomainStartEndE-ValueType
Pfam:SQS_PSY 47 320 2.1e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223810
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224267
Predicted Effect probably damaging
Transcript: ENSMUST00000224625
AA Change: T214A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.9203 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.6%
Validation Efficiency 98% (61/62)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530400C23Rik A G 6: 133,271,082 (GRCm39) Q42R probably benign Het
Acaa1a A G 9: 119,178,556 (GRCm39) probably null Het
Agbl5 T C 5: 31,062,067 (GRCm39) S756P probably damaging Het
Armc9 T C 1: 86,122,060 (GRCm39) L395P probably damaging Het
Cdc16 C T 8: 13,819,489 (GRCm39) Q362* probably null Het
Cdh5 C T 8: 104,856,002 (GRCm39) R312C probably damaging Het
Cep170b C T 12: 112,704,902 (GRCm39) Q887* probably null Het
Chd9 T C 8: 91,763,219 (GRCm39) I2348T probably damaging Het
Clec9a A G 6: 129,398,001 (GRCm39) probably benign Het
Col6a3 T C 1: 90,731,813 (GRCm39) D873G probably benign Het
D130040H23Rik T C 8: 69,755,579 (GRCm39) I328T probably benign Het
Dido1 G T 2: 180,302,728 (GRCm39) D1725E possibly damaging Het
Dnajb14 A G 3: 137,598,631 (GRCm39) D123G probably null Het
Dock2 A T 11: 34,580,587 (GRCm39) M661K probably damaging Het
Esam C T 9: 37,448,426 (GRCm39) probably null Het
Fam20c A T 5: 138,743,623 (GRCm39) N220Y probably damaging Het
Fat2 G T 11: 55,169,824 (GRCm39) H2978Q probably benign Het
Fbn1 T C 2: 125,162,846 (GRCm39) T2147A possibly damaging Het
Fhl5 T C 4: 25,211,252 (GRCm39) S147G probably benign Het
Flrt2 A G 12: 95,747,378 (GRCm39) Y572C probably damaging Het
Gcat A T 15: 78,926,297 (GRCm39) T56S possibly damaging Het
Gemin5 A T 11: 58,047,454 (GRCm39) probably null Het
Gm4736 A T 6: 132,092,640 (GRCm39) noncoding transcript Het
Grin2b T C 6: 135,820,108 (GRCm39) N368S probably benign Het
Gsto1 T C 19: 47,846,344 (GRCm39) F64L probably benign Het
Gucy1a1 A G 3: 82,013,440 (GRCm39) S401P probably damaging Het
Htr1f G A 16: 64,746,260 (GRCm39) P344L probably damaging Het
Ighv7-3 T A 12: 114,116,919 (GRCm39) Y81F probably damaging Het
Jakmip3 C A 7: 138,619,474 (GRCm39) probably benign Het
Kcnj13 T C 1: 87,314,641 (GRCm39) T194A probably benign Het
Khdrbs3 T C 15: 68,921,224 (GRCm39) probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lyn A T 4: 3,746,833 (GRCm39) I204F probably damaging Het
Mbd6 C G 10: 127,122,372 (GRCm39) R152P probably null Het
Myof A G 19: 37,911,426 (GRCm39) S1502P probably damaging Het
Myom2 T G 8: 15,135,294 (GRCm39) I499S probably benign Het
Nos2 T A 11: 78,850,521 (GRCm39) F1126L possibly damaging Het
Or3a4 G A 11: 73,944,814 (GRCm39) T257I probably damaging Het
P2ry1 T C 3: 60,911,133 (GRCm39) F91L probably damaging Het
Pcdh15 C A 10: 74,420,054 (GRCm39) D1166E probably benign Het
Pou6f1 C A 15: 100,478,805 (GRCm39) V368L probably benign Het
Ptcd3 A T 6: 71,860,470 (GRCm39) I579K possibly damaging Het
Rbm45 A G 2: 76,209,362 (GRCm39) E392G probably damaging Het
Rnf168 A G 16: 32,118,010 (GRCm39) N524D probably benign Het
Rnf222 G T 11: 68,783,982 (GRCm39) R183L probably damaging Het
Robo1 C T 16: 72,832,805 (GRCm39) T1526I probably benign Het
Sel1l A G 12: 91,776,776 (GRCm39) W689R probably damaging Het
Serpinb13 T C 1: 106,926,657 (GRCm39) S218P probably damaging Het
Serpini1 A G 3: 75,547,589 (GRCm39) Y367C probably damaging Het
Slc13a2 A G 11: 78,291,666 (GRCm39) F329S probably benign Het
Smc2 T C 4: 52,476,850 (GRCm39) probably benign Het
Sycp2 A T 2: 178,043,446 (GRCm39) probably benign Het
Tab2 G A 10: 7,783,245 (GRCm39) P679L probably damaging Het
Tdrd1 T A 19: 56,819,663 (GRCm39) N54K possibly damaging Het
Tgfbr2 T C 9: 115,958,901 (GRCm39) Y146C probably damaging Het
Tnfrsf11a A G 1: 105,737,130 (GRCm39) D79G possibly damaging Het
Trpa1 T C 1: 14,944,605 (GRCm39) I1046M probably benign Het
Ubn1 A G 16: 4,892,243 (GRCm39) probably benign Het
Ubp1 T C 9: 113,780,754 (GRCm39) probably null Het
Vmn2r2 A T 3: 64,024,320 (GRCm39) F754I probably benign 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
R3116:Fdft1 UTSW 14 63,415,147 (GRCm39) missense probably benign 0.03
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'- ATGGGTCAAAGCCATTCAAAG -3'
(R):5'- GCCTAGCAAGAATGTTTCTGTG -3'

Sequencing Primer
(F):5'- TGAATCCCTAGATGCAGTCAGTC -3'
(R):5'- ATGTTTCTGTGTCATTATTAAAGTGC -3'
Posted On 2015-02-18