Incidental Mutation 'IGL00509:Bfsp1'
ID9262
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bfsp1
Ensembl Gene ENSMUSG00000027420
Gene Namebeaded filament structural protein 1, in lens-CP94
Synonymsfilensin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.195) question?
Stock #IGL00509
Quality Score
Status
Chromosome2
Chromosomal Location143826528-143863173 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 143831892 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 293 (T293S)
Ref Sequence ENSEMBL: ENSMUSP00000028907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028907] [ENSMUST00000099296]
Predicted Effect probably damaging
Transcript: ENSMUST00000028907
AA Change: T293S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: T293S

DomainStartEndE-ValueType
Pfam:Filament 34 205 2.5e-13 PFAM
low complexity region 400 411 N/A INTRINSIC
low complexity region 544 561 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099296
AA Change: T299S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: T299S

DomainStartEndE-ValueType
Filament 32 317 1.05e-6 SMART
low complexity region 406 417 N/A INTRINSIC
low complexity region 550 567 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mutations in this gene produce lens abnormalities progressing to cataracts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,243,243 probably null Het
Abr A G 11: 76,423,089 L514P probably damaging Het
Ahnak T A 19: 9,009,951 D2866E possibly damaging Het
Ccr1 C T 9: 123,964,053 V147I probably benign Het
Cd84 T C 1: 171,852,137 probably null Het
Cep192 T C 18: 67,858,868 V1939A possibly damaging Het
Chrnb4 A T 9: 55,036,594 L80Q probably damaging Het
Ckmt2 A T 13: 91,863,263 L76H probably damaging Het
Cntnap2 C T 6: 46,015,263 P375S possibly damaging Het
Cped1 A T 6: 22,215,523 L685F probably damaging Het
Dab2ip T C 2: 35,720,013 S682P probably damaging Het
Dclk1 A T 3: 55,247,286 T46S probably damaging Het
Eif2d T A 1: 131,166,352 C427S probably benign Het
Fat4 T A 3: 38,889,039 Y694N probably damaging Het
Gm15217 T C 14: 46,383,311 probably benign Het
Gpr35 T C 1: 92,982,872 I102T probably damaging Het
Grk4 T A 5: 34,716,290 N233K probably damaging Het
Hdac3 T C 18: 37,954,885 D10G possibly damaging Het
Hexb G A 13: 97,181,929 T308M probably damaging Het
Inpp5j C A 11: 3,501,595 D436Y possibly damaging Het
Kif18a A G 2: 109,317,988 E609G possibly damaging Het
Kif24 T C 4: 41,413,826 probably null Het
Lrp4 G A 2: 91,486,174 probably benign Het
Mat2b T C 11: 40,684,727 K161E possibly damaging Het
Nek2 T G 1: 191,827,378 probably benign Het
Numa1 A G 7: 102,013,286 T1965A possibly damaging Het
Oca2 G A 7: 56,280,846 G137D probably damaging Het
Pdcl2 T A 5: 76,325,112 D3V probably damaging Het
Ranbp17 T C 11: 33,493,402 N91S probably benign Het
Siglech A T 7: 55,768,887 D146V possibly damaging Het
Slc4a3 C T 1: 75,555,083 T898M probably damaging Het
Sp3 A G 2: 72,938,062 probably benign Het
Tln1 C T 4: 43,542,719 V1396I probably benign Het
Ugt2a3 T A 5: 87,325,655 M468L probably damaging Het
Other mutations in Bfsp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Bfsp1 APN 2 143827644 splice site probably benign
IGL02329:Bfsp1 APN 2 143862646 missense probably benign
IGL02354:Bfsp1 APN 2 143831987 missense probably damaging 1.00
IGL02361:Bfsp1 APN 2 143831987 missense probably damaging 1.00
IGL02365:Bfsp1 APN 2 143826736 missense probably damaging 1.00
IGL02407:Bfsp1 APN 2 143826933 missense probably benign 0.00
IGL03118:Bfsp1 APN 2 143827333 missense possibly damaging 0.94
I0000:Bfsp1 UTSW 2 143845968 missense probably damaging 1.00
R0112:Bfsp1 UTSW 2 143827643 splice site probably null
R0657:Bfsp1 UTSW 2 143827650 splice site probably benign
R1642:Bfsp1 UTSW 2 143841763 missense probably damaging 1.00
R1816:Bfsp1 UTSW 2 143841679 missense probably benign 0.23
R2061:Bfsp1 UTSW 2 143862678 missense probably benign 0.08
R2248:Bfsp1 UTSW 2 143827652 splice site probably null
R3024:Bfsp1 UTSW 2 143845959 missense probably benign 0.19
R4029:Bfsp1 UTSW 2 143831829 splice site probably benign
R4914:Bfsp1 UTSW 2 143827471 missense probably benign 0.21
R4915:Bfsp1 UTSW 2 143827471 missense probably benign 0.21
R4917:Bfsp1 UTSW 2 143827471 missense probably benign 0.21
R4918:Bfsp1 UTSW 2 143827471 missense probably benign 0.21
R5018:Bfsp1 UTSW 2 143862882 missense possibly damaging 0.81
R5202:Bfsp1 UTSW 2 143826971 missense probably benign
R5267:Bfsp1 UTSW 2 143827051 missense probably benign 0.03
R5304:Bfsp1 UTSW 2 143827291 missense probably benign 0.34
R5825:Bfsp1 UTSW 2 143827459 missense probably benign 0.01
R6465:Bfsp1 UTSW 2 143858055 critical splice donor site probably null
R6888:Bfsp1 UTSW 2 143826719 missense probably benign 0.31
R7036:Bfsp1 UTSW 2 143826923 missense possibly damaging 0.65
R7075:Bfsp1 UTSW 2 143848965 missense probably damaging 1.00
R7362:Bfsp1 UTSW 2 143826875 missense probably benign 0.19
R7538:Bfsp1 UTSW 2 143831835 critical splice donor site probably null
R7839:Bfsp1 UTSW 2 143831850 missense possibly damaging 0.79
R7922:Bfsp1 UTSW 2 143831850 missense possibly damaging 0.79
X0022:Bfsp1 UTSW 2 143858117 missense probably damaging 1.00
Posted On2012-12-06