Incidental Mutation 'IGL02407:Bfsp1'
ID292108
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 #IGL02407
Quality Score
Status
Chromosome2
Chromosomal Location143826528-143863173 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 143826933 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 575 (D575E)
Ref Sequence ENSEMBL: ENSMUSP00000028907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028907] [ENSMUST00000099296]
Predicted Effect probably benign
Transcript: ENSMUST00000028907
AA Change: D575E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: D575E

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: D581E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: D581E

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A T 7: 34,256,484 N393K probably damaging Het
A2m G A 6: 121,668,616 W1040* probably null Het
Adgrv1 C A 13: 81,479,670 A3691S probably damaging Het
Als2cl T A 9: 110,889,227 Y345* probably null Het
Aplp2 A T 9: 31,158,527 Y496* probably null Het
Ash1l T C 3: 89,072,548 V2793A probably damaging Het
Ceacam20 G T 7: 19,970,407 V128F probably benign Het
Cers4 A T 8: 4,520,306 K204* probably null Het
Cog1 T C 11: 113,654,026 Y345H probably benign Het
Col14a1 T C 15: 55,448,876 probably benign Het
Col19a1 A T 1: 24,312,372 probably null Het
Ctnnd2 T A 15: 30,966,768 M955K probably damaging Het
Cyp3a16 A T 5: 145,451,842 M275K probably damaging Het
Degs2 T G 12: 108,691,995 T242P probably damaging Het
Elac2 T C 11: 64,999,175 V612A probably benign Het
Elovl6 T A 3: 129,605,084 F45I probably damaging Het
Exoc1 A C 5: 76,545,346 N360H probably damaging Het
Fam221b A T 4: 43,666,309 S101T possibly damaging Het
Glyr1 A G 16: 5,036,948 F89L probably benign Het
Herc4 C A 10: 63,306,424 T668K probably damaging Het
Hibadh C T 6: 52,548,889 V259I possibly damaging Het
Hp1bp3 T A 4: 138,240,672 D397E probably damaging Het
Ift80 G T 3: 68,898,536 D724E probably benign Het
Igkv3-10 T C 6: 70,573,239 probably benign Het
Irf9 G T 14: 55,605,221 A75S possibly damaging Het
Kif13a C T 13: 46,785,293 V76M probably damaging Het
Krt4 T C 15: 101,921,305 I263V probably benign Het
Lgals8 A G 13: 12,454,818 W87R probably benign Het
Mccc2 G A 13: 99,991,308 P96L probably damaging Het
Megf11 A C 9: 64,680,249 D443A probably damaging Het
Nckap5l T C 15: 99,423,127 probably benign Het
Ndor1 A G 2: 25,249,269 V230A probably benign Het
Nif3l1 G T 1: 58,457,797 V294L possibly damaging Het
Olfr1285 T A 2: 111,408,578 noncoding transcript Het
Pcdhb13 T A 18: 37,443,075 Y169N probably damaging Het
Peg3 A G 7: 6,707,636 I1529T probably damaging Het
Piezo2 T A 18: 63,146,844 I219F probably damaging Het
Prpf38a G A 4: 108,567,639 R242W unknown Het
Prrc2a A T 17: 35,160,504 D255E unknown Het
Rapgef6 G T 11: 54,676,355 D1121Y possibly damaging Het
Ryr3 T A 2: 112,754,958 H2761L probably damaging Het
Sel1l A T 12: 91,843,268 probably benign Het
Slc30a9 A G 5: 67,352,722 D539G probably damaging Het
Slc38a9 A G 13: 112,690,243 S172G probably benign Het
Slfn2 C A 11: 83,069,576 T127K probably benign Het
Smurf1 A T 5: 144,884,724 M496K probably damaging Het
Srgap2 A T 1: 131,319,602 V564D probably damaging Het
Stk32a T C 18: 43,297,511 I162T probably benign Het
Tchhl1 A T 3: 93,471,327 N446I possibly damaging Het
Tmem64 T A 4: 15,266,584 H211Q probably damaging Het
Trim3 T C 7: 105,613,011 N586S probably benign Het
Trpm1 A G 7: 64,219,121 E507G probably damaging Het
Tyk2 G T 9: 21,109,227 probably benign Het
Ugt3a2 A T 15: 9,365,230 K310* probably null Het
Unc13a T A 8: 71,648,942 N1022Y probably damaging Het
Vmn1r172 A T 7: 23,659,803 N38Y probably damaging Het
Vmn2r100 A T 17: 19,521,508 I161F probably damaging Het
Zcchc17 A G 4: 130,349,315 M25T probably benign Het
Zfp563 G A 17: 33,104,821 R130Q probably benign Het
Zhx2 A G 15: 57,823,406 S724G probably benign 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
IGL02361:Bfsp1 APN 2 143831987 missense probably damaging 1.00
IGL02365:Bfsp1 APN 2 143826736 missense probably damaging 1.00
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