Incidental Mutation 'IGL02108:Fntb'
ID 280019
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fntb
Ensembl Gene ENSMUSG00000033373
Gene Name farnesyltransferase, CAAX box, beta
Synonyms 2010013E13Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02108
Quality Score
Status
Chromosome 12
Chromosomal Location 76884014-76968188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76934631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 167 (E167G)
Ref Sequence ENSEMBL: ENSMUSP00000035498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041008] [ENSMUST00000125842] [ENSMUST00000137826]
AlphaFold Q8K2I1
PDB Structure Crystal structure of FTase(ALPHA-subunit; BETA-subunit DELTA C10) in complex with BMS3 and lipid substrate FPP [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000041008
AA Change: E167G

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035498
Gene: ENSMUSG00000033373
AA Change: E167G

DomainStartEndE-ValueType
Pfam:Prenyltrans 124 164 8.2e-16 PFAM
Pfam:Prenyltrans_2 127 241 7.8e-20 PFAM
Pfam:Prenyltrans 172 215 1.2e-12 PFAM
Pfam:Prenyltrans 220 263 2.1e-14 PFAM
Pfam:Prenyltrans_2 226 350 1.4e-9 PFAM
Pfam:Prenyltrans 268 312 1.7e-12 PFAM
Pfam:Prenyltrans 330 374 1.2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123887
Predicted Effect probably benign
Transcript: ENSMUST00000125842
SMART Domains Protein: ENSMUSP00000116906
Gene: ENSMUSG00000033373

DomainStartEndE-ValueType
Pfam:Churchill 1 65 2.4e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137826
AA Change: E201G

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120713
Gene: ENSMUSG00000033373
AA Change: E201G

DomainStartEndE-ValueType
Pfam:Churchill 1 92 1.9e-42 PFAM
Pfam:Prenyltrans 157 198 5.1e-16 PFAM
Pfam:Prenyltrans 206 249 2.8e-13 PFAM
Pfam:Prenyltrans 255 297 1e-14 PFAM
Pfam:Prenyltrans 302 346 1.6e-12 PFAM
Pfam:Prenyltrans 364 408 1.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154743
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality and loss epiblast-derived structures as a result of decreased cell proliferation and increased apoptosis. Cultured blastocysts corresponding to E7.5 embryos display a dramatic decrease in inner cell mass proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 56,325,346 (GRCm39) I369M probably damaging Het
Aff1 T G 5: 103,958,975 (GRCm39) probably null Het
Arid1a G T 4: 133,407,827 (GRCm39) P2227T unknown Het
Atp12a A T 14: 56,621,525 (GRCm39) D720V possibly damaging Het
Auh T C 13: 53,043,133 (GRCm39) probably benign Het
Bptf C A 11: 106,965,814 (GRCm39) V1012L probably benign Het
Cbr1 T C 16: 93,407,087 (GRCm39) F268L probably benign Het
Ccdc190 A G 1: 169,761,555 (GRCm39) D219G probably damaging Het
Ccnb1 C T 13: 100,917,665 (GRCm39) probably null Het
Cdh19 G T 1: 110,817,461 (GRCm39) S760R probably benign Het
Cecr2 G A 6: 120,739,519 (GRCm39) probably null Het
Chid1 A T 7: 141,112,841 (GRCm39) M1K probably null Het
Dzank1 T C 2: 144,348,143 (GRCm39) T208A probably benign Het
Ecm2 T A 13: 49,671,920 (GRCm39) Y140* probably null Het
Enox2 A G X: 48,102,393 (GRCm39) L533S possibly damaging Het
Gpihbp1 T C 15: 75,469,461 (GRCm39) V92A probably benign Het
Grsf1 C T 5: 88,813,762 (GRCm39) R329Q probably benign Het
Gtpbp4 T A 13: 9,035,249 (GRCm39) D370V probably benign Het
H2ac4 T C 13: 23,935,207 (GRCm39) V31A probably benign Het
Klhl14 T A 18: 21,690,977 (GRCm39) Y491F probably damaging Het
Lamb3 A T 1: 193,014,530 (GRCm39) Q563L probably damaging Het
Lcn2 A T 2: 32,277,617 (GRCm39) L124Q probably damaging Het
Mbl1 T C 14: 40,875,608 (GRCm39) S21P possibly damaging Het
Myrip G A 9: 120,296,631 (GRCm39) probably null Het
Nmur2 T C 11: 55,931,190 (GRCm39) T174A probably benign Het
Odf1 C A 15: 38,226,623 (GRCm39) Y174* probably null Het
Optn A G 2: 5,036,084 (GRCm39) V466A possibly damaging Het
Or5m12 A T 2: 85,734,494 (GRCm39) D301E possibly damaging Het
Or8b9 T A 9: 37,766,234 (GRCm39) V40E possibly damaging Het
Or8g54 A T 9: 39,706,808 (GRCm39) I46F probably damaging Het
Pde9a G A 17: 31,680,667 (GRCm39) S316N probably benign Het
Phf3 A T 1: 30,869,032 (GRCm39) I672K probably damaging Het
Pklr A T 3: 89,044,710 (GRCm39) I63F probably damaging Het
Plet1 T C 9: 50,410,387 (GRCm39) probably benign Het
Pp2d1 T A 17: 53,822,433 (GRCm39) D211V probably damaging Het
Ppp6r3 A T 19: 3,542,494 (GRCm39) W384R probably damaging Het
Prdm11 T C 2: 92,806,048 (GRCm39) I301V probably damaging Het
Prkar1a C T 11: 109,558,351 (GRCm39) R357C probably damaging Het
Ptchd1 T C X: 154,356,548 (GRCm39) T886A probably damaging Het
Ptpre A T 7: 135,260,831 (GRCm39) E156V possibly damaging Het
Ptprq T C 10: 107,482,478 (GRCm39) T1032A probably damaging Het
Rras2 A G 7: 113,659,623 (GRCm39) I47T probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Sh3rf3 T A 10: 58,971,650 (GRCm39) V826E probably damaging Het
Tmem127 T A 2: 127,099,026 (GRCm39) S132T probably damaging Het
Tnrc6c C A 11: 117,612,025 (GRCm39) P221Q probably benign Het
Tstd3 A T 4: 21,759,366 (GRCm39) probably benign Het
Usp46 T G 5: 74,189,867 (GRCm39) T55P probably damaging Het
Other mutations in Fntb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01536:Fntb APN 12 76,966,904 (GRCm39) missense probably benign
IGL01933:Fntb APN 12 76,966,880 (GRCm39) missense probably benign 0.38
IGL02105:Fntb APN 12 76,909,263 (GRCm39) missense probably benign 0.02
IGL02626:Fntb APN 12 76,944,145 (GRCm39) missense probably benign 0.00
IGL03257:Fntb APN 12 76,934,805 (GRCm39) missense probably damaging 1.00
R0410:Fntb UTSW 12 76,934,826 (GRCm39) missense probably benign 0.00
R0938:Fntb UTSW 12 76,963,214 (GRCm39) missense probably damaging 1.00
R1476:Fntb UTSW 12 76,957,007 (GRCm39) missense probably benign 0.04
R2182:Fntb UTSW 12 76,909,309 (GRCm39) missense probably benign 0.00
R5203:Fntb UTSW 12 76,884,346 (GRCm39) missense probably benign 0.01
R6444:Fntb UTSW 12 76,963,214 (GRCm39) missense probably damaging 1.00
R7060:Fntb UTSW 12 76,934,649 (GRCm39) missense possibly damaging 0.89
R7890:Fntb UTSW 12 76,920,224 (GRCm39) critical splice donor site probably null
R8852:Fntb UTSW 12 76,934,826 (GRCm39) missense possibly damaging 0.62
R8860:Fntb UTSW 12 76,934,826 (GRCm39) missense possibly damaging 0.62
R9064:Fntb UTSW 12 76,934,640 (GRCm39) missense probably benign
R9756:Fntb UTSW 12 76,966,938 (GRCm39) missense probably benign 0.06
Posted On 2015-04-16