Incidental Mutation 'IGL03257:Fntb'
ID 414706
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fntb
Ensembl Gene ENSMUSG00000033373
Gene Name farnesyltransferase, CAAX box, beta
Synonyms 2010013E13Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03257
Quality Score
Status
Chromosome 12
Chromosomal Location 76884014-76968188 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76934805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 228 (H228R)
Ref Sequence ENSEMBL: ENSMUSP00000120713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041008] [ENSMUST00000125842] [ENSMUST00000137826]
AlphaFold Q8K2I1
Predicted Effect probably damaging
Transcript: ENSMUST00000041008
AA Change: H194R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035498
Gene: ENSMUSG00000033373
AA Change: H194R

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 noncoding transcript
Transcript: ENSMUST00000123887
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 damaging
Transcript: ENSMUST00000137826
AA Change: H228R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120713
Gene: ENSMUSG00000033373
AA Change: H228R

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
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 C A 14: 118,852,623 (GRCm39) V489L probably benign Het
Alpk2 C A 18: 65,482,945 (GRCm39) E354D probably damaging Het
Ank1 A T 8: 23,612,914 (GRCm39) K1060M probably damaging Het
Cand2 A G 6: 115,776,944 (GRCm39) N1111D possibly damaging Het
Ccny A T 18: 9,386,747 (GRCm39) S73T possibly damaging Het
Clps T C 17: 28,779,634 (GRCm39) probably benign Het
Cnga1 C A 5: 72,768,205 (GRCm39) W160C probably damaging Het
Col6a5 T C 9: 105,759,072 (GRCm39) S2045G possibly damaging Het
Dennd4a T G 9: 64,779,156 (GRCm39) N546K possibly damaging Het
Efcab5 A T 11: 77,079,596 (GRCm39) M50K probably damaging Het
Gm4787 C T 12: 81,424,826 (GRCm39) C444Y probably damaging Het
Gpm6a A G 8: 55,490,507 (GRCm39) Y61C probably damaging Het
Grm5 T A 7: 87,252,106 (GRCm39) S119T possibly damaging Het
Igf1r T A 7: 67,864,688 (GRCm39) I1162N probably damaging Het
Irx5 A G 8: 93,087,258 (GRCm39) T397A probably benign Het
Kdm1b C T 13: 47,202,742 (GRCm39) T59M probably damaging Het
Lrrc9 T A 12: 72,496,542 (GRCm39) S57T probably benign Het
Nup210l A T 3: 90,087,455 (GRCm39) probably null Het
Or5p52 T C 7: 107,501,963 (GRCm39) I13T probably benign Het
Or8k27 A T 2: 86,276,234 (GRCm39) F31I probably damaging Het
Prl8a1 A G 13: 27,759,656 (GRCm39) I127T probably damaging Het
Psme1 T C 14: 55,818,086 (GRCm39) I142T probably damaging Het
Ptbp3 A T 4: 59,493,370 (GRCm39) probably benign Het
Rnf20 T A 4: 49,645,687 (GRCm39) N321K probably benign Het
Ttc23 T C 7: 67,361,126 (GRCm39) S340P probably damaging Het
Txnrd1 A T 10: 82,721,105 (GRCm39) K393I probably benign Het
Zfp365 A T 10: 67,724,868 (GRCm39) F340Y possibly damaging Het
Zfp451 C A 1: 33,816,129 (GRCm39) R607L possibly damaging Het
Zfp618 A G 4: 63,050,908 (GRCm39) Y563C probably 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
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
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
Posted On 2016-08-02