Incidental Mutation 'IGL01536:Fntb'
ID89945
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fntb
Ensembl Gene ENSMUSG00000033373
Gene Namefarnesyltransferase, CAAX box, beta
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01536
Quality Score
Status
Chromosome12
Chromosomal Location76765589-76921412 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 76920130 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 447 (T447S)
Ref Sequence ENSEMBL: ENSMUSP00000120713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041008] [ENSMUST00000125842] [ENSMUST00000137826]
Predicted Effect probably benign
Transcript: ENSMUST00000041008
AA Change: T413S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035498
Gene: ENSMUSG00000033373
AA Change: T413S

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 probably benign
Transcript: ENSMUST00000137826
AA Change: T447S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120713
Gene: ENSMUSG00000033373
AA Change: T447S

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp5a1 T C 18: 77,780,312 probably benign Het
Ccnc A G 4: 21,732,505 I81V probably benign Het
Cep112 A G 11: 108,531,411 D560G probably null Het
Dis3 A G 14: 99,079,423 Y826H probably damaging Het
Dtx2 A G 5: 136,010,086 probably benign Het
Enpp4 T C 17: 44,099,603 K361E possibly damaging Het
Erap1 A T 13: 74,662,423 K294* probably null Het
Erbb4 T A 1: 68,290,282 Y636F probably benign Het
Fads1 C A 19: 10,194,030 Q342K probably benign Het
Hdac4 A G 1: 91,930,146 probably benign Het
Kcnh2 A G 5: 24,326,524 I463T probably damaging Het
Kif13a G T 13: 46,752,289 T726K probably damaging Het
Lcmt1 T C 7: 123,422,743 S275P possibly damaging Het
Lmnb1 T C 18: 56,740,796 S425P probably benign Het
Lrp1b T C 2: 41,110,883 I2224V probably benign Het
Lrrc45 A T 11: 120,715,584 T173S probably benign Het
Muc4 T C 16: 32,763,966 Y2590H possibly damaging Het
Myo18a C T 11: 77,820,851 P676L probably damaging Het
Olfr1023 T C 2: 85,887,600 S267P probably damaging Het
Pcdhb15 T C 18: 37,474,993 M426T probably benign Het
Pik3cd A G 4: 149,652,666 V891A probably damaging Het
Polr1b A G 2: 129,125,555 N956S probably benign Het
Ppil3 T C 1: 58,444,591 M1V probably null Het
Rad1 T A 15: 10,493,200 S238T possibly damaging Het
Shc3 A C 13: 51,516,559 S51A probably damaging Het
Slc9c1 T C 16: 45,589,629 probably null Het
Smg5 A G 3: 88,349,245 K273E possibly damaging Het
Sntg1 C T 1: 8,583,200 probably null Het
Sstr4 T C 2: 148,395,880 L137P probably damaging Het
Taar8b C T 10: 24,091,595 V234I probably benign Het
Tbc1d9 A G 8: 83,260,992 Y860C probably damaging Het
Tll1 A T 8: 64,074,289 S399R probably damaging Het
Tns1 T C 1: 73,919,648 probably benign Het
Trim10 T A 17: 36,877,288 probably null Het
Ttn C T 2: 76,732,351 probably null Het
Usp43 T C 11: 67,855,938 D981G probably benign Het
Vmn2r108 A T 17: 20,463,281 C554S probably damaging Het
Vmn2r112 T A 17: 22,605,155 Y464N probably damaging Het
Vmn2r31 T C 7: 7,384,848 K575E probably damaging Het
Vmn2r50 C T 7: 10,037,683 C697Y probably damaging Het
Zcchc8 A C 5: 123,720,719 probably null Het
Other mutations in Fntb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01933:Fntb APN 12 76920106 missense probably benign 0.38
IGL02105:Fntb APN 12 76862489 missense probably benign 0.02
IGL02108:Fntb APN 12 76887857 missense possibly damaging 0.63
IGL02626:Fntb APN 12 76897371 missense probably benign 0.00
IGL03257:Fntb APN 12 76888031 missense probably damaging 1.00
R0410:Fntb UTSW 12 76888052 missense probably benign 0.00
R0938:Fntb UTSW 12 76916440 missense probably damaging 1.00
R1476:Fntb UTSW 12 76910233 missense probably benign 0.04
R2182:Fntb UTSW 12 76862535 missense probably benign 0.00
R5203:Fntb UTSW 12 76837572 missense probably benign 0.01
R6444:Fntb UTSW 12 76916440 missense probably damaging 1.00
R7060:Fntb UTSW 12 76887875 missense possibly damaging 0.89
R7890:Fntb UTSW 12 76873450 critical splice donor site probably null
Posted On2013-12-03