Incidental Mutation 'IGL03035:Fdft1'
ID 408629
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fdft1
Ensembl Gene ENSMUSG00000021273
Gene Name farnesyl diphosphate farnesyl transferase 1
Synonyms squalene synthase, SQS, Ss
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03035
Quality Score
Status
Chromosome 14
Chromosomal Location 63382599-63417027 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 63400838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 98 (C98*)
Ref Sequence ENSEMBL: ENSMUSP00000153671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054963] [ENSMUST00000223810] [ENSMUST00000224625]
AlphaFold P53798
Predicted Effect probably null
Transcript: ENSMUST00000054963
AA Change: C98*
SMART Domains Protein: ENSMUSP00000055313
Gene: ENSMUSG00000021273
AA Change: C98*

DomainStartEndE-ValueType
Pfam:SQS_PSY 47 320 2.1e-42 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000223810
AA Change: C98*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224267
Predicted Effect probably null
Transcript: ENSMUST00000224625
AA Change: C98*
Coding Region Coverage
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,573,319 (GRCm39) L1004P probably damaging Het
Adgrf5 T C 17: 43,741,518 (GRCm39) I385T possibly damaging Het
Alpk3 T C 7: 80,728,352 (GRCm39) V494A probably benign Het
Camta2 C A 11: 70,562,335 (GRCm39) E1021* probably null Het
Ccdc6 T A 10: 70,018,006 (GRCm39) S334T probably benign Het
Cd84 T C 1: 171,679,601 (GRCm39) V93A probably damaging Het
Ceacam20 T C 7: 19,711,833 (GRCm39) probably null Het
Crip2 A C 12: 113,107,745 (GRCm39) T103P probably benign Het
Cyp4f14 T A 17: 33,133,608 (GRCm39) T83S probably benign Het
Dapk1 T A 13: 60,864,587 (GRCm39) V127D probably damaging Het
Dnah7c A G 1: 46,563,277 (GRCm39) E609G probably benign Het
Dscam T A 16: 96,621,170 (GRCm39) I513F possibly damaging Het
Ell2 T A 13: 75,911,767 (GRCm39) L351* probably null Het
Emcn G T 3: 137,078,612 (GRCm39) probably null Het
Fer1l4 A G 2: 155,864,526 (GRCm39) S1663P possibly damaging Het
Flt4 C A 11: 49,536,724 (GRCm39) Y1231* probably null Het
Gatb A G 3: 85,509,254 (GRCm39) K139E probably damaging Het
Gtf2a1 C A 12: 91,539,411 (GRCm39) probably benign Het
Gtf3c2 A C 5: 31,323,358 (GRCm39) V574G possibly damaging Het
Heatr1 T C 13: 12,428,100 (GRCm39) probably benign Het
Homer2 T A 7: 81,274,026 (GRCm39) T57S possibly damaging Het
Ice2 C A 9: 69,332,970 (GRCm39) F825L probably benign Het
Lepr C A 4: 101,622,177 (GRCm39) L370I probably damaging Het
Nalcn G A 14: 123,515,630 (GRCm39) Q1724* probably null Het
Nufip1 A G 14: 76,353,258 (GRCm39) D222G probably damaging Het
Or4f4b T C 2: 111,314,168 (GRCm39) V159A probably benign Het
Prl3b1 A G 13: 27,433,516 (GRCm39) probably benign Het
Ptbp3 A T 4: 59,477,218 (GRCm39) M393K probably benign Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Rapgef2 T A 3: 79,001,731 (GRCm39) H282L probably damaging Het
Rars2 T C 4: 34,656,865 (GRCm39) probably null Het
Rnf213 G A 11: 119,336,452 (GRCm39) probably benign Het
Ros1 C A 10: 51,952,080 (GRCm39) probably benign Het
Slx4ip A G 2: 136,909,623 (GRCm39) D206G possibly damaging Het
Sprr1a T A 3: 92,391,884 (GRCm39) D39V probably benign Het
Stab1 A G 14: 30,869,726 (GRCm39) V1442A probably benign Het
Tbx3 C A 5: 119,821,161 (GRCm39) probably benign Het
Ubl3 A G 5: 148,442,947 (GRCm39) *118Q probably null Het
Vmn2r55 G A 7: 12,404,743 (GRCm39) S220L probably benign Het
Vps36 A G 8: 22,708,431 (GRCm39) K362E probably benign Het
Zfp268 C A 4: 145,348,802 (GRCm39) Q80K possibly damaging Het
Other mutations in Fdft1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9764:Fdft1 UTSW 14 63,400,869 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02