Incidental Mutation 'R8860:Fntb'
ID 675620
Institutional Source Beutler Lab
Gene Symbol Fntb
Ensembl Gene ENSMUSG00000033373
Gene Name farnesyltransferase, CAAX box, beta
Synonyms 2010013E13Rik
MMRRC Submission 068678-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8860 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 76884014-76968188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76934826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 201 (V201E)
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: V201E

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000035498
Gene: ENSMUSG00000033373
AA Change: V201E

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 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: V235E

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000120713
Gene: ENSMUSG00000033373
AA Change: V235E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (45/45)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T G 12: 71,231,197 (GRCm39) V985G possibly damaging Het
Acr T G 15: 89,458,057 (GRCm39) M246R probably damaging Het
Ago4 A T 4: 126,387,043 (GRCm39) D853E probably benign Het
Atf6 A T 1: 170,680,535 (GRCm39) F52L probably null Het
Blm A T 7: 80,144,276 (GRCm39) C782S probably benign Het
C2cd5 A G 6: 143,028,946 (GRCm39) Y98H probably benign Het
Ccdc106 A G 7: 5,062,570 (GRCm39) D192G probably benign Het
Celf2 A G 2: 6,565,468 (GRCm39) probably null Het
Chd1l A G 3: 97,477,685 (GRCm39) F690S probably benign Het
Chuk A G 19: 44,076,407 (GRCm39) S435P possibly damaging Het
Cisd3 T A 11: 97,576,703 (GRCm39) S10T probably benign Het
Cma2 G T 14: 56,210,574 (GRCm39) C143F probably damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Cnppd1 A G 1: 75,113,063 (GRCm39) S402P probably damaging Het
Crtc1 A G 8: 70,840,805 (GRCm39) S474P probably damaging Het
Dhx38 A T 8: 110,289,361 (GRCm39) L13* probably null Het
Fat4 A T 3: 38,946,269 (GRCm39) T1721S probably benign Het
Gga3 T C 11: 115,481,244 (GRCm39) D242G probably benign Het
Hif3a A T 7: 16,774,912 (GRCm39) M562K probably benign Het
Hnrnpc A G 14: 52,312,792 (GRCm39) S261P possibly damaging Het
Intu G A 3: 40,627,162 (GRCm39) M314I probably benign Het
Lims1 C T 10: 58,243,925 (GRCm39) Q126* probably null Het
Lrrc14b T A 13: 74,509,408 (GRCm39) D333V probably damaging Het
Meaf6 T A 4: 124,979,990 (GRCm39) L48Q probably damaging Het
Miip T A 4: 147,950,839 (GRCm39) probably benign Het
Myh4 T A 11: 67,132,335 (GRCm39) I155N probably damaging Het
Nnt T C 13: 119,476,407 (GRCm39) Y733C Het
Nup155 T C 15: 8,159,640 (GRCm39) V517A possibly damaging Het
Obscn C T 11: 58,898,440 (GRCm39) R6607Q unknown Het
Or2ak7 C T 11: 58,574,966 (GRCm39) T89I probably benign Het
Or51s1 A G 7: 102,558,336 (GRCm39) S237P probably benign Het
Ptprg T C 14: 12,213,685 (GRCm38) Y1018H probably damaging Het
Rdh8 A C 9: 20,734,021 (GRCm39) N69T probably benign Het
Rgsl1 G A 1: 153,697,100 (GRCm39) Q572* probably null Het
Septin7 A T 9: 25,163,980 (GRCm39) N16Y possibly damaging Het
Sparcl1 T C 5: 104,241,218 (GRCm39) N69D probably benign Het
Ssh3 A T 19: 4,317,992 (GRCm39) V41E probably damaging Het
Tmem253 A G 14: 52,256,303 (GRCm39) R168G probably benign Het
Vmn2r60 T A 7: 41,791,654 (GRCm39) F526I probably damaging Het
Vmn2r73 A T 7: 85,522,149 (GRCm39) probably benign Het
Vps4b A G 1: 106,710,414 (GRCm39) F156L possibly damaging Het
Zfp354c T A 11: 50,706,019 (GRCm39) H352L probably damaging Het
Zic2 A T 14: 122,713,530 (GRCm39) H148L possibly 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
IGL02108:Fntb APN 12 76,934,631 (GRCm39) missense possibly damaging 0.63
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
R9064:Fntb UTSW 12 76,934,640 (GRCm39) missense probably benign
R9756:Fntb UTSW 12 76,966,938 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- GGAAGCCTACAACGTCATTAACAG -3'
(R):5'- CATTTGCATGAAAGGAGCCGAG -3'

Sequencing Primer
(F):5'- CGTCATTAACAGGTGAAGCTGC -3'
(R):5'- CCGAGAGATAGTGATACCTAAGGGC -3'
Posted On 2021-07-15