Incidental Mutation 'IGL01663:Fbll1'
ID103231
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbll1
Ensembl Gene ENSMUSG00000051062
Gene Namefibrillarin-like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.229) question?
Stock #IGL01663
Quality Score
Status
Chromosome11
Chromosomal Location35797382-35798884 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35797821 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 205 (I205T)
Ref Sequence ENSEMBL: ENSMUSP00000128889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160726]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120504
Predicted Effect probably damaging
Transcript: ENSMUST00000160726
AA Change: I205T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000128889
Gene: ENSMUSG00000051062
AA Change: I205T

DomainStartEndE-ValueType
low complexity region 5 77 N/A INTRINSIC
Fibrillarin 82 309 1.21e-170 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,277,802 I1085V possibly damaging Het
Adamts16 T C 13: 70,793,141 T376A probably benign Het
Aifm3 T A 16: 17,502,786 probably null Het
Ankrd16 A G 2: 11,778,662 E25G probably damaging Het
Ano6 T A 15: 95,967,614 probably null Het
Cdh18 T C 15: 23,445,991 I509T possibly damaging Het
Cdon A G 9: 35,483,214 T919A possibly damaging Het
Clca3a2 G A 3: 144,817,155 P148L probably damaging Het
Dnph1 G T 17: 46,498,482 R74L probably benign Het
Epha6 C T 16: 59,775,644 A895T probably damaging Het
Exoc3l4 T A 12: 111,429,411 probably benign Het
Frem2 T A 3: 53,517,013 H3001L probably damaging Het
Galk2 A G 2: 125,983,179 N432D probably benign Het
Gm7535 A C 17: 17,911,357 probably benign Het
Il10 A G 1: 131,021,414 E104G probably benign Het
Il1a T C 2: 129,304,717 K152R probably benign Het
Kdm1b T A 13: 47,073,737 N568K probably damaging Het
Kmt2c A C 5: 25,310,670 L2725R probably damaging Het
Krba1 G T 6: 48,411,754 L527F probably damaging Het
Lrp2 A G 2: 69,428,706 S4547P probably benign Het
Nin G T 12: 70,043,665 A992E possibly damaging Het
Olfr510 T A 7: 108,667,891 H158Q probably benign Het
Olfr740 G A 14: 50,453,150 V33M probably benign Het
Pcdhb1 A G 18: 37,267,133 I712M possibly damaging Het
Prmt2 C T 10: 76,217,309 probably null Het
Rbm20 T G 19: 53,840,995 V608G probably damaging Het
Smarcc2 C T 10: 128,488,977 probably benign Het
Speer3 A T 5: 13,793,222 R48* probably null Het
Tlr1 A T 5: 64,925,073 N720K possibly damaging Het
Tnfrsf21 A T 17: 43,087,811 M603L probably benign Het
Ttc3 T A 16: 94,409,731 probably null Het
Usp4 C A 9: 108,365,880 A249E possibly damaging Het
Wdr20 T A 12: 110,793,514 V278E probably damaging Het
Other mutations in Fbll1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Fbll1 APN 11 35798047 missense probably benign 0.00
IGL01559:Fbll1 APN 11 35797545 missense probably damaging 1.00
IGL01799:Fbll1 APN 11 35798109 missense possibly damaging 0.71
IGL01988:Fbll1 APN 11 35797901 missense probably benign
R0088:Fbll1 UTSW 11 35798140 missense possibly damaging 0.72
R3087:Fbll1 UTSW 11 35798190 missense probably damaging 1.00
R3738:Fbll1 UTSW 11 35797678 missense possibly damaging 0.88
R3739:Fbll1 UTSW 11 35797678 missense possibly damaging 0.88
R3854:Fbll1 UTSW 11 35797699 missense probably benign 0.01
R3935:Fbll1 UTSW 11 35797648 missense probably damaging 1.00
R4034:Fbll1 UTSW 11 35797678 missense possibly damaging 0.88
R4195:Fbll1 UTSW 11 35797666 missense possibly damaging 0.93
R4195:Fbll1 UTSW 11 35797872 missense possibly damaging 0.75
R4196:Fbll1 UTSW 11 35797872 missense possibly damaging 0.75
R4824:Fbll1 UTSW 11 35797825 missense probably damaging 1.00
R4923:Fbll1 UTSW 11 35797580 missense probably benign 0.02
R5669:Fbll1 UTSW 11 35797584 missense probably benign 0.09
R5909:Fbll1 UTSW 11 35798332 missense unknown
R6265:Fbll1 UTSW 11 35797809 missense probably damaging 0.98
R8078:Fbll1 UTSW 11 35797901 missense probably benign
Posted On2014-01-21