Incidental Mutation 'R1476:Fntb'
ID 164087
Institutional Source Beutler Lab
Gene Symbol Fntb
Ensembl Gene ENSMUSG00000033373
Gene Name farnesyltransferase, CAAX box, beta
Synonyms 2010013E13Rik
MMRRC Submission 039529-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1476 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 76884014-76968188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 76957007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 282 (M282K)
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 probably benign
Transcript: ENSMUST00000041008
AA Change: M282K

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000035498
Gene: ENSMUSG00000033373
AA Change: M282K

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 noncoding transcript
Transcript: ENSMUST00000130605
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136939
Predicted Effect probably benign
Transcript: ENSMUST00000137826
AA Change: M316K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000120713
Gene: ENSMUSG00000033373
AA Change: M316K

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
Meta Mutation Damage Score 0.7510 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 95% (80/84)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,099,528 (GRCm39) probably benign Het
A730015C16Rik G A 4: 108,705,205 (GRCm39) V40M probably damaging Het
Abcg2 A G 6: 58,655,322 (GRCm39) D419G probably benign Het
Adamts17 A C 7: 66,725,091 (GRCm39) E777A probably damaging Het
Ak1 A G 2: 32,523,478 (GRCm39) K166R probably benign Het
Ankrd12 T C 17: 66,293,300 (GRCm39) K711R probably damaging Het
Ate1 A T 7: 130,020,301 (GRCm39) probably null Het
Atp5f1a A G 18: 77,869,625 (GRCm39) H519R probably benign Het
Best1 G T 19: 9,967,853 (GRCm39) Y284* probably null Het
C2cd6 A G 1: 59,115,887 (GRCm39) probably benign Het
Casz1 G T 4: 149,030,628 (GRCm39) V1216L probably benign Het
Cdc42bpg A G 19: 6,363,812 (GRCm39) D493G probably damaging Het
Ces2f A G 8: 105,679,134 (GRCm39) D317G possibly damaging Het
Chst15 A T 7: 131,872,002 (GRCm39) M93K possibly damaging Het
Cntnap5a T C 1: 115,828,750 (GRCm39) L58P probably damaging Het
Crip3 T C 17: 46,741,702 (GRCm39) probably benign Het
Csmd2 G A 4: 128,380,794 (GRCm39) E2117K probably benign Het
Cstf3 A G 2: 104,478,564 (GRCm39) D212G possibly damaging Het
Cttnbp2 T C 6: 18,434,220 (GRCm39) K546R probably damaging Het
Cubn A G 2: 13,480,931 (GRCm39) I308T probably benign Het
Cxcl9 T A 5: 92,472,972 (GRCm39) D75V probably damaging Het
Dcdc5 C T 2: 106,188,977 (GRCm39) noncoding transcript Het
Defa30 C A 8: 21,624,752 (GRCm39) T25K possibly damaging Het
Dock7 A T 4: 98,967,672 (GRCm39) H239Q possibly damaging Het
Dpp4 A G 2: 62,178,245 (GRCm39) V629A possibly damaging Het
Fam83a T C 15: 57,873,341 (GRCm39) M390T probably benign Het
Fem1c A G 18: 46,657,552 (GRCm39) L54P probably damaging Het
Galnt2l A G 8: 122,996,323 (GRCm39) probably benign Het
Gm11099 G A 2: 58,749,482 (GRCm39) probably benign Het
Gm1527 T C 3: 28,980,705 (GRCm39) S602P probably benign Het
Gm5478 T A 15: 101,553,080 (GRCm39) I331F probably damaging Het
Gm7853 C A 14: 35,811,540 (GRCm39) noncoding transcript Het
Gsta2 A T 9: 78,249,147 (GRCm39) C18S probably benign Het
H1f8 T C 6: 115,924,701 (GRCm39) V69A possibly damaging Het
Hecw1 T C 13: 14,480,671 (GRCm39) E465G probably damaging Het
Herc1 A G 9: 66,415,548 (GRCm39) D4841G probably damaging Het
Hus1b A G 13: 31,130,984 (GRCm39) V225A probably benign Het
Keg1 A T 19: 12,693,387 (GRCm39) M137L probably benign Het
Kmt2a C T 9: 44,735,932 (GRCm39) probably benign Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mga T A 2: 119,772,156 (GRCm39) V1672E probably damaging Het
Mios T C 6: 8,234,237 (GRCm39) S803P probably benign Het
Mrtfa T C 15: 80,902,409 (GRCm39) probably benign Het
Msh4 A T 3: 153,569,021 (GRCm39) Y851N probably damaging Het
Mybl1 A C 1: 9,742,886 (GRCm39) probably null Het
Myo5c A G 9: 75,183,221 (GRCm39) Y865C probably damaging Het
Naip1 T C 13: 100,563,378 (GRCm39) S596G probably benign Het
Nek5 G T 8: 22,586,747 (GRCm39) Q355K possibly damaging Het
Nphp3 G T 9: 103,903,126 (GRCm39) R701L possibly damaging Het
Or52n2 A T 7: 104,542,444 (GRCm39) Y130* probably null Het
Or5j3 T C 2: 86,128,823 (GRCm39) I221T probably damaging Het
Or5m10 T A 2: 85,717,592 (GRCm39) Y149* probably null Het
Or5t9 T C 2: 86,659,542 (GRCm39) S149P probably benign Het
Or9g4 T A 2: 85,505,262 (GRCm39) T78S possibly damaging Het
Palm A G 10: 79,651,021 (GRCm39) N149D possibly damaging Het
Pot1b T C 17: 55,960,451 (GRCm39) I626M possibly damaging Het
Ptprt T A 2: 161,769,404 (GRCm39) D487V probably damaging Het
Qpct A G 17: 79,378,201 (GRCm39) I124V probably benign Het
Rbm12b1 T A 4: 12,145,817 (GRCm39) D596E possibly damaging Het
Rnf157 A G 11: 116,245,585 (GRCm39) C277R probably damaging Het
Rnf169 A G 7: 99,574,535 (GRCm39) S687P possibly damaging Het
Sfxn1 T A 13: 54,246,469 (GRCm39) probably null Het
Slc6a21 T C 7: 44,922,052 (GRCm39) V649A probably benign Het
Slit3 A T 11: 35,577,126 (GRCm39) T1120S probably damaging Het
Spem2 A T 11: 69,708,896 (GRCm39) M58K probably benign Het
Sprr2k T A 3: 92,340,703 (GRCm39) probably benign Het
Sspo T C 6: 48,440,334 (GRCm39) probably null Het
Sv2b A T 7: 74,769,791 (GRCm39) F584I possibly damaging Het
Tkfc A T 19: 10,572,690 (GRCm39) M317K probably null Het
Tnni3k C T 3: 154,735,942 (GRCm39) G134S probably benign Het
Ttn C T 2: 76,570,124 (GRCm39) R26923H probably damaging Het
Tuba3b T C 6: 145,564,179 (GRCm39) V75A possibly damaging Het
Unc79 T C 12: 103,149,784 (GRCm39) L2626P probably damaging Het
Usp24 A T 4: 106,219,130 (GRCm39) I491F probably damaging Het
V1ra8 A T 6: 90,180,132 (GRCm39) I112F probably damaging Het
Vmn1r29 T G 6: 58,284,663 (GRCm39) F128V probably benign Het
Wdr87-ps A G 7: 29,234,315 (GRCm39) noncoding transcript Het
Zfp157 T A 5: 138,453,357 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- GCCAGGTTTAAATGACAGTTGCCAC -3'
(R):5'- TGGGGATGCTCCCTTCAGATAACAG -3'

Sequencing Primer
(F):5'- ATGACAGTTGCCACTGGGG -3'
(R):5'- TCCCTTCAGATAACAGGGAGTG -3'
Posted On 2014-03-28