Incidental Mutation 'R6343:Fdft1'
ID 514021
Institutional Source Beutler Lab
Gene Symbol Fdft1
Ensembl Gene ENSMUSG00000021273
Gene Name farnesyl diphosphate farnesyl transferase 1
Synonyms squalene synthase, SQS, Ss
MMRRC Submission 044497-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6343 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 63382599-63417027 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 63388721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 304 (Y304N)
Ref Sequence ENSEMBL: ENSMUSP00000153671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054963] [ENSMUST00000224625]
AlphaFold P53798
Predicted Effect probably damaging
Transcript: ENSMUST00000054963
AA Change: Y304N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000055313
Gene: ENSMUSG00000021273
AA Change: Y304N

DomainStartEndE-ValueType
Pfam:SQS_PSY 47 320 2.1e-42 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000224625
AA Change: Y304N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (51/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A T 11: 110,205,378 (GRCm39) L301Q probably damaging Het
Adgrl4 T C 3: 151,223,443 (GRCm39) L632P probably damaging Het
Cacna2d1 T A 5: 16,527,562 (GRCm39) I539N probably benign Het
Camta1 T A 4: 151,164,306 (GRCm39) H314L probably damaging Het
Car2 T C 3: 14,953,025 (GRCm39) S56P probably damaging Het
Chrm5 G A 2: 112,309,793 (GRCm39) A441V probably damaging Het
Ckap5 T A 2: 91,426,819 (GRCm39) N1380K possibly damaging Het
Cspg4 T C 9: 56,799,976 (GRCm39) V1580A probably benign Het
Dcc A G 18: 71,469,106 (GRCm39) L1099P probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Epha5 A T 5: 84,254,606 (GRCm39) H644Q probably damaging Het
Eya3 T C 4: 132,400,221 (GRCm39) I80T probably damaging Het
Fiz1 C T 7: 5,011,400 (GRCm39) A373T possibly damaging Het
Gpatch2l T A 12: 86,307,379 (GRCm39) Y252* probably null Het
Hivep1 G T 13: 42,313,147 (GRCm39) G1796* probably null Het
Irf8 T C 8: 121,480,446 (GRCm39) V228A probably damaging Het
Islr A C 9: 58,064,379 (GRCm39) V376G probably damaging Het
Kdm5a T C 6: 120,359,894 (GRCm39) V230A probably benign Het
Lpgat1 A G 1: 191,508,684 (GRCm39) probably null Het
Lrp8 T C 4: 107,726,353 (GRCm39) probably null Het
Lyzl4 A C 9: 121,407,150 (GRCm39) S127A possibly damaging Het
Map4k1 T C 7: 28,699,715 (GRCm39) V606A possibly damaging Het
Mau2 T A 8: 70,484,173 (GRCm39) K138N probably damaging Het
Meikin T C 11: 54,261,592 (GRCm39) L33P probably damaging Het
Mrpl28 T C 17: 26,345,252 (GRCm39) V224A probably benign Het
Ncdn T C 4: 126,640,964 (GRCm39) D512G possibly damaging Het
Nlrp2 T A 7: 5,303,925 (GRCm39) Q200L possibly damaging Het
Nup98 T C 7: 101,843,957 (GRCm39) N89S possibly damaging Het
Ogfrl1 T G 1: 23,408,944 (GRCm39) K427N probably benign Het
Or14a258 T A 7: 86,035,059 (GRCm39) R270* probably null Het
Or52p2 A G 7: 102,237,753 (GRCm39) C66R probably damaging Het
Or5b12 G T 19: 12,896,946 (GRCm39) H242Q probably damaging Het
Or6c201 A T 10: 128,969,535 (GRCm39) L34* probably null Het
Padi3 C T 4: 140,530,819 (GRCm39) V68I possibly damaging Het
Pign A T 1: 105,512,820 (GRCm39) M621K probably benign Het
Pigv C T 4: 133,392,547 (GRCm39) V208M probably damaging Het
Ripk4 A G 16: 97,564,726 (GRCm39) probably benign Het
Rsf1 A G 7: 97,310,124 (GRCm39) K285E probably benign Het
Serpina3k G C 12: 104,311,562 (GRCm39) G380A probably benign Het
Sorbs1 A G 19: 40,365,426 (GRCm39) probably null Het
Srrd G C 5: 112,487,866 (GRCm39) A104G probably benign Het
Tbp T A 17: 15,721,351 (GRCm39) probably null Het
Tecrl G A 5: 83,442,447 (GRCm39) H209Y probably damaging Het
Tmprss11c A G 5: 86,404,204 (GRCm39) L157P probably damaging Het
Tmprss13 A T 9: 45,254,498 (GRCm39) T422S possibly damaging Het
Ttll5 A G 12: 86,003,473 (GRCm39) H1103R probably benign Het
Urb2 G T 8: 124,757,864 (GRCm39) E1190D probably damaging Het
Vldlr A G 19: 27,223,049 (GRCm39) Y699C probably damaging Het
Vmn1r22 T G 6: 57,877,563 (GRCm39) N138T possibly 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
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
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'- TGGTCTGGTTAAACAGCGAC -3'
(R):5'- GGCTAAATGACAGAATAACCCTGTTG -3'

Sequencing Primer
(F):5'- GGTTAAACAGCGACATGATTTAATGC -3'
(R):5'- GAGCTGAAAAGGTCGAGCC -3'
Posted On 2018-04-27