Incidental Mutation 'I0000:Bfsp1'
ID7854
Institutional Source Beutler Lab
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: 0.190) question?
Stock #I0000 (G3) of strain 635
Quality Score
Status Validated
Chromosome2
Chromosomal Location143826528-143863173 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 143845968 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 179 (Y179C)
Ref Sequence ENSEMBL: ENSMUSP00000096899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028907] [ENSMUST00000099296]
Predicted Effect probably damaging
Transcript: ENSMUST00000028907
AA Change: Y179C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: Y179C

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: Y179C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: Y179C

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
Meta Mutation Damage Score 0.8325 question?
Coding Region Coverage
  • 1x: 90.9%
  • 3x: 86.6%
Validation Efficiency 67% (62/92)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T C 5: 114,238,655 V1933A probably damaging Het
Acsm4 T A 7: 119,711,192 F467I probably damaging Het
Ankrd55 A T 13: 112,348,725 probably benign Het
Ccdc61 A G 7: 18,903,549 I51T probably damaging Het
Ccdc81 A G 7: 89,898,051 L43P probably damaging Het
Ddias A G 7: 92,866,640 V15A possibly damaging Het
Dpp6 A T 5: 27,398,922 T62S probably benign Het
Ereg G A 5: 91,089,209 C129Y probably benign Het
Fras1 G A 5: 96,740,829 G2745S probably damaging Het
Gzf1 C T 2: 148,686,620 probably benign Het
Herc2 T A 7: 56,136,729 probably benign Het
Hsd17b4 A G 18: 50,160,228 D278G probably benign Homo
Ifitm3 A G 7: 141,010,528 S40P possibly damaging Het
Klf5 C T 14: 99,303,475 T307M probably damaging Homo
Lnpep A T 17: 17,578,971 C141S probably damaging Homo
Mmp19 A T 10: 128,798,460 D362V probably benign Het
Olfr1245 T C 2: 89,575,153 Y191C probably damaging Het
Pnpla6 G A 8: 3,542,322 A1222T probably benign Het
Rbm26 C A 14: 105,153,567 R161L unknown Homo
Selenon G A 4: 134,542,701 probably benign Het
Sept11 A G 5: 93,165,259 T322A probably benign Het
Sh3bp4 T A 1: 89,137,796 D37E probably benign Het
Tango2 G A 16: 18,312,666 R80W possibly damaging Homo
Tjap1 C T 17: 46,259,029 C345Y probably damaging Homo
Wdr62 T C 7: 30,245,327 D455G probably benign Het
Zbtb48 A G 4: 152,019,858 I671T probably benign Het
Zfp318 T C 17: 46,399,559 L736P probably damaging Homo
Other mutations in Bfsp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Bfsp1 APN 2 143831892 missense probably damaging 1.00
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
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
X0022:Bfsp1 UTSW 2 143858117 missense probably damaging 1.00
Posted On2012-11-05