Incidental Mutation 'R2095:Fnta'
ID 232045
Institutional Source Beutler Lab
Gene Symbol Fnta
Ensembl Gene ENSMUSG00000015994
Gene Name farnesyltransferase, CAAX box, alpha
Synonyms FTA
MMRRC Submission 040099-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2095 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 26488716-26505638 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 26489907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 303 (Q303*)
Ref Sequence ENSEMBL: ENSMUSP00000016138 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016138]
AlphaFold Q61239
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 null
Transcript: ENSMUST00000016138
AA Change: Q303*
SMART Domains Protein: ENSMUSP00000016138
Gene: ENSMUSG00000015994
AA Change: Q303*

DomainStartEndE-ValueType
low complexity region 11 48 N/A INTRINSIC
Pfam:PPTA 116 143 4.6e-11 PFAM
Pfam:PPTA 151 178 9.2e-14 PFAM
Pfam:PPTA 185 212 3.9e-15 PFAM
Pfam:PPTA 219 246 8.1e-11 PFAM
Pfam:PPTA 259 285 4.7e-9 PFAM
low complexity region 293 304 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209247
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209664
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211718
Meta Mutation Damage Score 0.9756 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Prenyltransferases can attach either a farnesyl group or a geranylgeranyl group in thioether linkage to the cysteine residue of proteins with a C-terminal CAAX box. CAAX geranylgeranyltransferase and CAAX farnesyltransferase are heterodimers that share the same alpha subunit but have different beta subunits. This gene encodes the alpha subunit of these transferases. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 11 and 13. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530002B09Rik C A 4: 122,596,151 (GRCm39) Y127* probably null Het
Adam33 C T 2: 130,895,629 (GRCm39) G562D probably damaging Het
Adh1 T C 3: 137,988,557 (GRCm39) F177L probably damaging Het
Arhgef17 T C 7: 100,530,470 (GRCm39) T1439A probably damaging Het
Arl5c C T 11: 97,884,277 (GRCm39) E105K probably damaging Het
Armc3 T A 2: 19,293,740 (GRCm39) D510E possibly damaging Het
Bbx T C 16: 50,045,052 (GRCm39) E395G possibly damaging Het
Cacna2d2 G A 9: 107,404,364 (GRCm39) E1087K probably benign Het
Casq1 T C 1: 172,043,529 (GRCm39) N113S probably benign Het
Cbfa2t3 A G 8: 123,361,727 (GRCm39) S432P probably benign Het
Ccn2 T C 10: 24,472,377 (GRCm39) V140A probably benign Het
Cd163 A G 6: 124,294,781 (GRCm39) D615G probably damaging Het
Chrnb2 A T 3: 89,668,744 (GRCm39) D190E probably benign Het
Clec9a T C 6: 129,393,321 (GRCm39) L115P possibly damaging Het
Cluh C T 11: 74,552,550 (GRCm39) R532* probably null Het
Cntnap5a T A 1: 116,369,990 (GRCm39) L869Q probably damaging Het
Cyp3a57 A T 5: 145,305,944 (GRCm39) K143* probably null Het
Dcaf12 G T 4: 41,294,085 (GRCm39) H351N probably benign Het
Dtna T A 18: 23,702,805 (GRCm39) L112Q probably damaging Het
Frs2 T C 10: 116,910,507 (GRCm39) E285G probably benign Het
Gabra4 T C 5: 71,781,455 (GRCm39) I293V probably damaging Het
Gm2431 A T 7: 141,811,518 (GRCm39) C129S unknown Het
Gnl2 C T 4: 124,928,111 (GRCm39) R49C probably damaging Het
Helz T A 11: 107,536,972 (GRCm39) Y275N probably damaging Het
Hydin A G 8: 111,189,289 (GRCm39) E1231G probably damaging Het
Kctd11 T A 11: 69,770,402 (GRCm39) D212V probably damaging Het
Klf3 T A 5: 64,979,245 (GRCm39) M29K probably benign Het
Klhl21 T C 4: 152,093,850 (GRCm39) S151P probably benign Het
Lsm14b A T 2: 179,673,580 (GRCm39) probably benign Het
Mlxipl T C 5: 135,150,974 (GRCm39) probably benign Het
Mov10 G A 3: 104,708,847 (GRCm39) R389C probably damaging Het
Msh6 A G 17: 88,295,661 (GRCm39) M1071V possibly damaging Het
Myh8 G T 11: 67,177,050 (GRCm39) A401S probably benign Het
Ndufv3 T C 17: 31,746,460 (GRCm39) S117P possibly damaging Het
Obscn A T 11: 58,984,410 (GRCm39) probably null Het
Or1e22 T A 11: 73,377,420 (GRCm39) T77S probably damaging Het
Or2l13 T C 16: 19,305,681 (GRCm39) I31T probably benign Het
Or4c11c T C 2: 88,661,634 (GRCm39) Y58H probably damaging Het
Or8g50 T A 9: 39,648,557 (GRCm39) Y149N probably damaging Het
Pcdhb17 T A 18: 37,619,375 (GRCm39) D388E probably benign Het
Pgm3 T C 9: 86,438,394 (GRCm39) T423A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
S1pr5 T A 9: 21,156,154 (GRCm39) T91S probably benign Het
Sgcz T C 8: 38,007,546 (GRCm39) probably benign Het
Slc33a1 A G 3: 63,871,376 (GRCm39) L79P probably damaging Het
Slco2a1 A G 9: 102,954,167 (GRCm39) T383A probably benign Het
Slit1 G A 19: 41,594,819 (GRCm39) R1184W probably damaging Het
Spta1 T A 1: 174,071,764 (GRCm39) M2248K possibly damaging Het
Stub1 A G 17: 26,049,864 (GRCm39) Y304H probably damaging Het
Taar7e T A 10: 23,913,949 (GRCm39) Y146* probably null Het
Tbc1d1 C T 5: 64,473,844 (GRCm39) S660L probably benign Het
Tcea2 C A 2: 181,328,725 (GRCm39) F259L probably damaging Het
Tcp11l1 T A 2: 104,512,185 (GRCm39) K482N probably damaging Het
Trpv6 C T 6: 41,598,690 (GRCm39) R645Q probably damaging Het
Uaca T A 9: 60,748,125 (GRCm39) S30T probably benign Het
Ubap2 C G 4: 41,206,901 (GRCm39) V492L possibly damaging Het
Ube3c T C 5: 29,873,038 (GRCm39) F1026S probably damaging Het
Vmn2r8 T G 5: 108,956,487 (GRCm39) D45A possibly damaging Het
Zfp738 G T 13: 67,819,422 (GRCm39) L180I probably damaging Het
Other mutations in Fnta
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Fnta APN 8 26,497,229 (GRCm39) nonsense probably null
IGL01508:Fnta APN 8 26,497,294 (GRCm39) missense probably damaging 1.00
BB004:Fnta UTSW 8 26,494,454 (GRCm39) nonsense probably null
BB014:Fnta UTSW 8 26,494,454 (GRCm39) nonsense probably null
R0455:Fnta UTSW 8 26,491,056 (GRCm39) missense probably benign 0.00
R1462:Fnta UTSW 8 26,489,599 (GRCm39) splice site probably null
R1462:Fnta UTSW 8 26,489,599 (GRCm39) splice site probably null
R1772:Fnta UTSW 8 26,490,994 (GRCm39) splice site probably benign
R2174:Fnta UTSW 8 26,503,498 (GRCm39) missense possibly damaging 0.95
R5193:Fnta UTSW 8 26,501,246 (GRCm39) splice site probably null
R5212:Fnta UTSW 8 26,499,735 (GRCm39) missense probably benign 0.07
R5557:Fnta UTSW 8 26,489,564 (GRCm39) missense probably damaging 1.00
R5756:Fnta UTSW 8 26,499,735 (GRCm39) missense possibly damaging 0.94
R6467:Fnta UTSW 8 26,497,341 (GRCm39) nonsense probably null
R7127:Fnta UTSW 8 26,497,231 (GRCm39) missense probably damaging 1.00
R7571:Fnta UTSW 8 26,505,493 (GRCm39) missense probably benign 0.02
R7644:Fnta UTSW 8 26,503,516 (GRCm39) missense probably damaging 0.97
R7927:Fnta UTSW 8 26,494,454 (GRCm39) nonsense probably null
R8012:Fnta UTSW 8 26,489,535 (GRCm39) missense probably benign 0.00
R8441:Fnta UTSW 8 26,501,209 (GRCm39) nonsense probably null
R8957:Fnta UTSW 8 26,489,541 (GRCm39) missense probably benign 0.00
R9352:Fnta UTSW 8 26,501,119 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGAGCCCTGAGAAACTCCATG -3'
(R):5'- GGCCCACACAGTTTAAAATAAGTTC -3'

Sequencing Primer
(F):5'- CCCTGAGAAACTCCATGAGGTATG -3'
(R):5'- AAATAAGTTCTTCTTTCTTTTCCCGC -3'
Posted On 2014-09-18