Incidental Mutation 'R9764:Fdft1'
ID 733169
Institutional Source Beutler Lab
Gene Symbol Fdft1
Ensembl Gene ENSMUSG00000021273
Gene Name farnesyl diphosphate farnesyl transferase 1
Synonyms squalene synthase, SQS, Ss
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9764 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 63382599-63417027 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 63400869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 88 (I88T)
Ref Sequence ENSEMBL: ENSMUSP00000055313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054963] [ENSMUST00000223810] [ENSMUST00000224625]
AlphaFold P53798
Predicted Effect probably damaging
Transcript: ENSMUST00000054963
AA Change: I88T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055313
Gene: ENSMUSG00000021273
AA Change: I88T

DomainStartEndE-ValueType
Pfam:SQS_PSY 47 320 2.1e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000223810
AA Change: I88T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224625
AA Change: I88T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik T C 13: 97,166,738 (GRCm39) T93A unknown Het
Adgrg6 T A 10: 14,302,515 (GRCm39) H938L probably benign Het
Aff1 A G 5: 103,997,365 (GRCm39) Y1153C probably damaging Het
Akr1c20 T A 13: 4,564,388 (GRCm39) I42L probably benign Het
Atad2b T A 12: 5,082,064 (GRCm39) N1324K probably benign Het
Aurka T A 2: 172,201,760 (GRCm39) I270F probably damaging Het
Camk2g A T 14: 20,815,498 (GRCm39) D189E probably damaging Het
Cc2d2b A G 19: 40,804,299 (GRCm39) D942G unknown Het
Ccnd1 A C 7: 144,491,770 (GRCm39) S90A probably benign Het
Cfap77 G T 2: 28,852,741 (GRCm39) T177K probably damaging Het
Chd9 A G 8: 91,721,220 (GRCm39) N1003D unknown Het
Chga C G 12: 102,525,613 (GRCm39) Q85E possibly damaging Het
Cnot1 T C 8: 96,496,209 (GRCm39) S322G probably benign Het
Cyp8b1 C A 9: 121,744,294 (GRCm39) S346I probably benign Het
Cysltr2 T A 14: 73,266,906 (GRCm39) H268L probably damaging Het
Dnah11 T C 12: 117,884,704 (GRCm39) T3783A probably benign Het
Dock3 C T 9: 106,959,713 (GRCm39) V109I probably benign Het
Dscc1 A G 15: 54,953,674 (GRCm39) C50R probably benign Het
Dtx3l T A 16: 35,753,277 (GRCm39) D443V probably damaging Het
Ephb6 A G 6: 41,592,911 (GRCm39) H383R probably benign Het
Fmo3 C A 1: 162,794,524 (GRCm39) W182L probably benign Het
Folh1 T A 7: 86,406,158 (GRCm39) Q305L probably benign Het
Gale C T 4: 135,692,975 (GRCm39) Q73* probably null Het
Gm9195 T C 14: 72,699,885 (GRCm39) M1154V unknown Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Gtsf1l T C 2: 162,929,052 (GRCm39) T144A probably benign Het
Itpkc T C 7: 26,927,222 (GRCm39) T231A probably benign Het
Kng2 C A 16: 22,822,737 (GRCm39) C205F probably damaging Het
Ldlrap1 T G 4: 134,476,661 (GRCm39) N244T probably benign Het
Lingo2 A G 4: 35,709,750 (GRCm39) F77L possibly damaging Het
Lpcat2b A T 5: 107,581,438 (GRCm39) T256S possibly damaging Het
Lrit2 A G 14: 36,790,936 (GRCm39) D205G probably damaging Het
Lrrc34 T C 3: 30,697,467 (GRCm39) D88G probably damaging Het
Macf1 T C 4: 123,366,136 (GRCm39) E2875G probably benign Het
Med13 G T 11: 86,177,345 (GRCm39) Q1584K possibly damaging Het
Naip5 C G 13: 100,367,269 (GRCm39) A276P probably damaging Het
Ndufv2 A G 17: 66,394,503 (GRCm39) Y121H probably damaging Het
Or4f52 T A 2: 111,061,521 (GRCm39) I206F probably damaging Het
Peg12 T C 7: 62,113,297 (GRCm39) T267A unknown Het
Pkig A G 2: 163,567,375 (GRCm39) probably null Het
Prkch C G 12: 73,747,078 (GRCm39) T319S probably benign Het
Rhobtb1 T C 10: 69,115,202 (GRCm39) S534P probably damaging Het
Riok2 A G 17: 17,607,814 (GRCm39) N454S probably benign Het
Ryr2 T A 13: 11,701,935 (GRCm39) K2907N possibly damaging Het
Sdc3 C T 4: 130,546,048 (GRCm39) P136S unknown Het
Slc37a3 G A 6: 39,322,844 (GRCm39) L371F probably damaging Het
Slc3a1 A T 17: 85,371,419 (GRCm39) H657L probably damaging Het
Slc7a13 T A 4: 19,819,033 (GRCm39) Y78N probably benign Het
Slfn8 G T 11: 82,907,838 (GRCm39) A235E probably damaging Het
Snap91 T A 9: 86,707,094 (GRCm39) D232V possibly damaging Het
Stap2 C A 17: 56,309,914 (GRCm39) S79I probably damaging Het
Stra6l T C 4: 45,884,602 (GRCm39) V544A probably damaging Het
Syn2 T C 6: 115,251,219 (GRCm39) probably null Het
Tctn1 G A 5: 122,388,527 (GRCm39) P284S possibly damaging Het
Terb2 G A 2: 122,018,475 (GRCm39) M77I probably benign Het
Trim80 G T 11: 115,338,757 (GRCm39) R529L possibly damaging Het
Washc2 T C 6: 116,186,048 (GRCm39) L86P possibly damaging Het
Zfp74 A T 7: 29,631,845 (GRCm39) F133Y probably benign Het
Zfp987 T A 4: 146,060,752 (GRCm39) N61K 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
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
Predicted Primers PCR Primer
(F):5'- CAGTACCGACAACTGCACTG -3'
(R):5'- AACAACTTTAGAGAATGACCTGCC -3'

Sequencing Primer
(F):5'- CTGGCAATTATCGACAGCCTATG -3'
(R):5'- GCCCAACAACTTGAGTTTAGGTC -3'
Posted On 2022-11-14