Incidental Mutation 'IGL02361:Bfsp1'
ID290491
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 #IGL02361
Quality Score
Status
Chromosome2
Chromosomal Location143826528-143863173 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 143831987 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 261 (E261G)
Ref Sequence ENSEMBL: ENSMUSP00000028907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028907] [ENSMUST00000099296]
Predicted Effect probably damaging
Transcript: ENSMUST00000028907
AA Change: E261G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: E261G

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 benign
Transcript: ENSMUST00000099296
AA Change: E267G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: E267G

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp1 A C 6: 55,345,513 L164F possibly damaging Het
Brinp2 A G 1: 158,247,178 C458R probably damaging Het
Cacng3 T G 7: 122,671,946 M58R possibly damaging Het
Cfap43 A T 19: 47,897,413 C254* probably null Het
Cnga1 T C 5: 72,616,718 probably null Het
Dis3 A T 14: 99,079,712 Y765* probably null Het
Dpep1 T A 8: 123,200,218 S260R probably benign Het
Elmod1 A G 9: 53,931,558 L106P probably damaging Het
Fut10 A G 8: 31,201,370 Y81C probably damaging Het
Fzd10 T A 5: 128,601,868 D217E possibly damaging Het
Gap43 T C 16: 42,340,508 probably benign Het
Gigyf1 T C 5: 137,519,727 probably benign Het
Gm1840 T C 8: 5,640,896 noncoding transcript Het
Gpc5 C T 14: 115,133,287 R175* probably null Het
Kcna1 C A 6: 126,642,906 Q150H probably damaging Het
Lama5 A T 2: 180,193,884 C1225* probably null Het
Lrrc25 A T 8: 70,617,827 D86V probably benign Het
Madd A T 2: 91,162,198 V1043E probably benign Het
Mov10 A T 3: 104,804,121 probably benign Het
Mzb1 T A 18: 35,649,197 H46L possibly damaging Het
Nek10 A T 14: 14,843,856 Q193L probably damaging Het
Nos3 A T 5: 24,367,623 I187F probably damaging Het
Olfr1231 T A 2: 89,303,182 M137L probably benign Het
Olfr473 T A 7: 107,934,277 Y252* probably null Het
Olfr822 A G 10: 130,075,274 Y288C probably damaging Het
Pgap1 T C 1: 54,512,816 T486A probably benign Het
Prdm9 C T 17: 15,562,847 V58M probably damaging Het
Prkd2 A G 7: 16,847,658 Y146C probably damaging Het
Psmd9 G T 5: 123,248,316 R175I probably damaging Het
Pxdn A G 12: 29,999,189 D618G probably damaging Het
Rgs6 A T 12: 82,618,619 probably benign Het
Rrm2 G T 12: 24,711,439 probably benign Het
Shank3 T C 15: 89,504,333 V376A probably damaging Het
Slc5a10 A G 11: 61,719,840 probably null Het
Slfn3 A T 11: 83,213,242 Q313L possibly damaging Het
Sptbn1 A T 11: 30,110,783 F2062L probably damaging Het
Tbc1d10a T C 11: 4,215,047 V500A probably benign Het
Tcea1 T C 1: 4,896,347 probably benign Het
Thsd7a T C 6: 12,348,193 probably benign Het
Tm9sf4 C T 2: 153,187,650 T173M probably benign Het
Tmtc2 T C 10: 105,271,526 T709A probably benign Het
Zfp385b T C 2: 77,450,303 E97G probably damaging Het
Zim1 A T 7: 6,682,874 probably null Het
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
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 On2015-04-16