Incidental Mutation 'R1689:Fdft1'
ID 189595
Institutional Source Beutler Lab
Gene Symbol Fdft1
Ensembl Gene ENSMUSG00000021273
Gene Name farnesyl diphosphate farnesyl transferase 1
Synonyms squalene synthase, SQS, Ss
MMRRC Submission 039722-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1689 (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 63394138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 191 (E191G)
Ref Sequence ENSEMBL: ENSMUSP00000153671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054963] [ENSMUST00000223810] [ENSMUST00000224625]
AlphaFold P53798
Predicted Effect probably benign
Transcript: ENSMUST00000054963
AA Change: E191G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000055313
Gene: ENSMUSG00000021273
AA Change: E191G

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 benign
Transcript: ENSMUST00000224625
AA Change: E191G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,769,827 (GRCm39) K896R probably benign Het
Adcy9 A T 16: 4,115,426 (GRCm39) probably null Het
Adgre1 T C 17: 57,756,921 (GRCm39) F726S probably benign Het
Ahctf1 A T 1: 179,595,948 (GRCm39) S148T probably damaging Het
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Ammecr1l C A 18: 31,913,741 (GRCm39) A289D probably benign Het
Amotl1 T C 9: 14,504,518 (GRCm39) Y230C probably damaging Het
Armc6 A T 8: 70,682,187 (GRCm39) S65R probably benign Het
Atad2b T A 12: 5,084,575 (GRCm39) Y1440* probably null Het
Atf6b T A 17: 34,869,276 (GRCm39) D164E probably damaging Het
B4galt6 C T 18: 20,839,553 (GRCm39) S127N probably benign Het
Bcl11a A T 11: 24,113,167 (GRCm39) Y170F probably damaging Het
Bcl11a A T 11: 24,114,406 (GRCm39) D583V possibly damaging Het
Btnl1 T A 17: 34,600,182 (GRCm39) Y228* probably null Het
Cav2 A G 6: 17,281,421 (GRCm39) H21R probably benign Het
Celsr2 T A 3: 108,314,620 (GRCm39) D1135V possibly damaging Het
Cntnap1 A C 11: 101,079,699 (GRCm39) probably null Het
Cysltr2 T C 14: 73,267,470 (GRCm39) D80G possibly damaging Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dgkh A T 14: 78,855,984 (GRCm39) M363K possibly damaging Het
Eml5 C T 12: 98,797,194 (GRCm39) V1112M probably damaging Het
Entpd7 A G 19: 43,713,915 (GRCm39) T425A probably damaging Het
Ephx2 T A 14: 66,324,475 (GRCm39) K373* probably null Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbxw10 A T 11: 62,750,862 (GRCm39) I482L probably damaging Het
Fbxw8 T C 5: 118,215,682 (GRCm39) S443G probably damaging Het
Fgd2 A G 17: 29,582,696 (GRCm39) E26G probably benign Het
Gabra4 T C 5: 71,790,885 (GRCm39) probably null Het
Gc A G 5: 89,589,059 (GRCm39) probably null Het
Heatr1 T A 13: 12,439,506 (GRCm39) D1361E probably benign Het
Hid1 A G 11: 115,251,183 (GRCm39) F118L probably damaging Het
Igsf8 G T 1: 172,146,504 (GRCm39) G564W probably damaging Het
Il12rb2 A G 6: 67,313,744 (GRCm39) V4A probably benign Het
Irak3 T C 10: 119,982,457 (GRCm39) E335G probably damaging Het
Itgb8 T G 12: 119,134,555 (GRCm39) Q504P probably benign Het
Kbtbd12 A T 6: 88,595,567 (GRCm39) Y88N probably damaging Het
Klk1b5 T C 7: 43,869,969 (GRCm39) I226T probably damaging Het
L3hypdh A T 12: 72,131,527 (GRCm39) I135N probably damaging Het
Lrp2 G T 2: 69,333,873 (GRCm39) T1456K probably benign Het
Mrgprd C A 7: 144,875,454 (GRCm39) Y108* probably null Het
Muc6 C T 7: 141,234,265 (GRCm39) G742D probably damaging Het
Nalcn T A 14: 123,522,666 (GRCm39) I1572F probably damaging Het
Nceh1 A G 3: 27,280,231 (GRCm39) Y126C probably damaging Het
Or14j1 T C 17: 38,146,495 (GRCm39) S202P possibly damaging Het
Or1ak2 A G 2: 36,827,989 (GRCm39) N286S probably damaging Het
Or7d11 A T 9: 19,966,422 (GRCm39) N112K possibly damaging Het
Pacs1 G T 19: 5,322,643 (GRCm39) probably benign Het
Pappa2 A G 1: 158,784,968 (GRCm39) L14P probably damaging Het
Pdlim2 C T 14: 70,408,688 (GRCm39) G176D probably damaging Het
Pramel17 T A 4: 101,694,376 (GRCm39) K169I possibly damaging Het
Ptpra T C 2: 130,345,412 (GRCm39) F5L probably benign Het
Qrfprl A G 6: 65,358,591 (GRCm39) N105S possibly damaging Het
Ralgapa1 A G 12: 55,723,552 (GRCm39) L2114P possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Senp2 T A 16: 21,845,416 (GRCm39) Y217N probably damaging Het
Sned1 C T 1: 93,211,094 (GRCm39) R1061C probably damaging Het
Spag16 C T 1: 70,500,277 (GRCm39) T535I probably benign Het
Supt20 T A 3: 54,619,583 (GRCm39) L355* probably null Het
Tmem132b A G 5: 125,864,678 (GRCm39) H928R possibly damaging Het
Tpo A T 12: 30,148,245 (GRCm39) L552H probably damaging Het
Tsfm A T 10: 126,864,324 (GRCm39) N130K probably damaging Het
Usp48 T A 4: 137,383,418 (GRCm39) probably null Het
Vsig10 A G 5: 117,490,825 (GRCm39) D544G probably benign Het
Vsig10l C T 7: 43,114,792 (GRCm39) T433I possibly damaging Het
Wdr81 A G 11: 75,336,422 (GRCm39) F1655L probably damaging Het
Wfdc3 T A 2: 164,576,111 (GRCm39) D60V 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
R3116:Fdft1 UTSW 14 63,415,147 (GRCm39) missense probably benign 0.03
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'- AGACCCTGAATCCCTAGATGCAGTC -3'
(R):5'- GCAATGAAGGTGATGGCAGTAGTCC -3'

Sequencing Primer
(F):5'- GTCACTTGAAACCACTGGGTTAG -3'
(R):5'- GACTGCTCACATGGACTACAATG -3'
Posted On 2014-05-14