Incidental Mutation 'IGL01508:Fnta'
ID 89125
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fnta
Ensembl Gene ENSMUSG00000015994
Gene Name farnesyltransferase, CAAX box, alpha
Synonyms FTA
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01508
Quality Score
Status
Chromosome 8
Chromosomal Location 26488716-26505638 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26497294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 185 (E185G)
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 damaging
Transcript: ENSMUST00000016138
AA Change: E185G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000016138
Gene: ENSMUSG00000015994
AA Change: E185G

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
Coding Region Coverage
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,636,326 (GRCm39) R732* probably null Het
Adarb2 C A 13: 8,802,606 (GRCm39) probably null Het
Alb C T 5: 90,618,697 (GRCm39) A430V probably benign Het
Cdhr3 A T 12: 33,103,427 (GRCm39) F397I possibly damaging Het
Cmya5 A G 13: 93,230,535 (GRCm39) S1518P probably benign Het
Col6a4 T A 9: 105,890,804 (GRCm39) Y1830F possibly damaging Het
Col6a6 A G 9: 105,604,365 (GRCm39) probably benign Het
Dnah7a T C 1: 53,666,231 (GRCm39) S599G probably benign Het
Dnai4 G A 4: 102,929,884 (GRCm39) P369L possibly damaging Het
Fbxo3 A T 2: 103,864,021 (GRCm39) H92L probably benign Het
Ffar2 T C 7: 30,518,601 (GRCm39) D313G probably benign Het
Gdap2 C T 3: 100,078,243 (GRCm39) T69I possibly damaging Het
Gimap7 A T 6: 48,701,230 (GRCm39) N272I probably damaging Het
Gin1 T C 1: 97,705,162 (GRCm39) V84A probably benign Het
Itga8 A G 2: 12,237,613 (GRCm39) L369P possibly damaging Het
Itgax C T 7: 127,743,990 (GRCm39) T891I probably damaging Het
Lama1 T A 17: 68,116,356 (GRCm39) probably benign Het
Lkaaear1 T C 2: 181,338,830 (GRCm39) T169A probably benign Het
Nckap5 A G 1: 125,953,309 (GRCm39) V1017A probably damaging Het
Nemf A C 12: 69,391,760 (GRCm39) probably benign Het
Osr1 A G 12: 9,629,370 (GRCm39) D81G probably damaging Het
Pate4 A T 9: 35,519,602 (GRCm39) C29* probably null Het
Prkce C T 17: 86,937,513 (GRCm39) R649C probably damaging Het
Ptpn5 A G 7: 46,741,303 (GRCm39) V14A probably benign Het
Rnf166 C A 8: 123,197,081 (GRCm39) C57F probably damaging Het
Tenm3 A G 8: 48,729,680 (GRCm39) I1426T probably benign Het
Trpm6 C T 19: 18,773,894 (GRCm39) Q424* probably null Het
Ttc27 T A 17: 75,142,352 (GRCm39) S606T probably damaging Het
Tyrp1 T C 4: 80,759,002 (GRCm39) S292P possibly damaging Het
Wdr70 A G 15: 8,108,747 (GRCm39) V133A probably benign Het
Ylpm1 T C 12: 85,062,229 (GRCm39) F252S possibly damaging Het
Other mutations in Fnta
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Fnta APN 8 26,497,229 (GRCm39) nonsense probably null
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
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
Posted On 2013-12-03