Incidental Mutation 'R8012:Fnta'
ID 616951
Institutional Source Beutler Lab
Gene Symbol Fnta
Ensembl Gene ENSMUSG00000015994
Gene Name farnesyltransferase, CAAX box, alpha
Synonyms FTA
MMRRC Submission 046052-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8012 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 26488716-26505638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26489535 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 359 (I359V)
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 benign
Transcript: ENSMUST00000016138
AA Change: I359V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000016138
Gene: ENSMUSG00000015994
AA Change: I359V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (44/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 T A 4: 144,429,972 (GRCm39) D339V possibly damaging Het
Adam19 A G 11: 45,955,873 (GRCm39) E73G possibly damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Alas1 A T 9: 106,123,962 (GRCm39) N65K probably benign Het
Amigo1 T A 3: 108,095,958 (GRCm39) S486T probably damaging Het
Arid1a A G 4: 133,420,174 (GRCm39) L591S unknown Het
Asic1 T C 15: 99,594,532 (GRCm39) V326A possibly damaging Het
Aspm A G 1: 139,385,202 (GRCm39) N282S probably benign Het
Atad5 A G 11: 79,985,066 (GRCm39) D51G probably damaging Het
Brd10 A G 19: 29,695,534 (GRCm39) S1320P possibly damaging Het
Cabp5 A T 7: 13,141,706 (GRCm39) probably null Het
Cdca2 A G 14: 67,914,821 (GRCm39) C813R probably benign Het
Chpf2 A T 5: 24,795,343 (GRCm39) R289W probably damaging Het
Csf1r A T 18: 61,250,136 (GRCm39) N367I possibly damaging Het
Cyp2c66 T C 19: 39,172,369 (GRCm39) F428S probably damaging Het
Dgkb A T 12: 38,189,485 (GRCm39) N296I probably benign Het
Dhcr24 T C 4: 106,443,853 (GRCm39) F481S probably damaging Het
Diaph3 T C 14: 87,274,958 (GRCm39) Y166C probably benign Het
Dnah7b A T 1: 46,282,525 (GRCm39) Q2886L probably damaging Het
Dock6 A T 9: 21,757,807 (GRCm39) V99E probably benign Het
F830045P16Rik T C 2: 129,316,352 (GRCm39) D119G possibly damaging Het
Fasn A T 11: 120,702,428 (GRCm39) L1773Q probably damaging Het
Filip1 A T 9: 79,725,241 (GRCm39) V1126E probably damaging Het
Hoxc10 T C 15: 102,875,902 (GRCm39) S204P probably benign Het
Kif26b T C 1: 178,743,815 (GRCm39) C1304R probably benign Het
Lamc1 T C 1: 153,097,358 (GRCm39) E1562G probably benign Het
Lrguk A G 6: 34,033,038 (GRCm39) N235D probably benign Het
Ly6g6f T C 17: 35,300,060 (GRCm39) R263G possibly damaging Het
Mcrs1 C A 15: 99,147,766 (GRCm39) S47I probably damaging Het
Mx1 T A 16: 97,258,572 (GRCm39) I42F probably damaging Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Nup188 T A 2: 30,227,277 (GRCm39) C1235S possibly damaging Het
Obsl1 T A 1: 75,469,317 (GRCm39) H1208L probably benign Het
Pcmt1 T C 10: 7,516,527 (GRCm39) D175G probably benign Het
Pcolce T C 5: 137,603,457 (GRCm39) K459E probably benign Het
Pudp T G 18: 50,701,310 (GRCm39) H141P possibly damaging Het
Rock2 T C 12: 16,992,743 (GRCm39) Y171H probably damaging Het
Rwdd1 A C 10: 33,885,198 (GRCm39) probably benign Het
Sbno1 A G 5: 124,522,565 (GRCm39) V1085A probably benign Het
Tie1 A G 4: 118,343,678 (GRCm39) L88P possibly damaging Het
Tmem131 T C 1: 36,847,045 (GRCm39) D1351G probably damaging Het
Tph1 A T 7: 46,306,303 (GRCm39) D219E probably damaging Het
Wdr86 A G 5: 24,935,177 (GRCm39) probably null 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
R2095:Fnta UTSW 8 26,489,907 (GRCm39) nonsense probably null
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
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'- CAGCACCTGGACAGCTTTAG -3'
(R):5'- GCTCTTGCATCATACCTCATGG -3'

Sequencing Primer
(F):5'- GCTTTAGCGCACAGGCAAG -3'
(R):5'- ATCATACCTCATGGAGTTTCTCAGGG -3'
Posted On 2020-01-23