Incidental Mutation 'IGL02365:Bfsp1'
ID290677
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: 0.210) question?
Stock #IGL02365
Quality Score
Status
Chromosome2
Chromosomal Location143826528-143863173 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 143826736 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 647 (E647A)
Ref Sequence ENSEMBL: ENSMUSP00000096899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028907] [ENSMUST00000099296]
Predicted Effect probably damaging
Transcript: ENSMUST00000028907
AA Change: E641A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: E641A

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: E647A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: E647A

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933400A11Rik T C X: 169,776,530 N272D probably benign Het
Acyp2 A T 11: 30,649,318 V21E probably damaging Het
Adgrl3 A G 5: 81,512,581 D331G probably damaging Het
Arfgef1 A T 1: 10,199,883 I347N probably benign Het
Bhmt A T 13: 93,617,638 N354K probably benign Het
Brinp3 A T 1: 146,901,122 T436S probably benign Het
Cog7 C A 7: 121,977,736 M66I possibly damaging Het
Csf2rb2 A T 15: 78,287,060 M333K possibly damaging Het
Cyp2u1 A G 3: 131,298,229 V214A probably damaging Het
Dcaf5 A T 12: 80,398,773 H177Q probably benign Het
Dchs1 T C 7: 105,755,188 T2716A probably benign Het
Dsc1 T C 18: 20,108,816 Q156R probably damaging Het
Dspp G T 5: 104,176,061 G357W probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fto T G 8: 91,468,375 S265R probably damaging Het
Gphb5 A G 12: 75,415,817 probably benign Het
Iars T C 13: 49,691,499 V162A probably benign Het
Klk13 A C 7: 43,723,866 K107T possibly damaging Het
Kpna7 T A 5: 144,985,733 D507V possibly damaging Het
Lamb1 A T 12: 31,318,345 E1158V probably damaging Het
Lonp2 A T 8: 86,716,365 D818V possibly damaging Het
Med15 A G 16: 17,671,606 probably benign Het
Olfr470 T A 7: 107,844,912 N274Y probably damaging Het
Olfr810 T C 10: 129,791,535 D18G possibly damaging Het
Olfr965 A T 9: 39,719,674 Y149F possibly damaging Het
Olfr965 G A 9: 39,720,100 S291N probably damaging Het
Plpbp A G 8: 27,045,924 I82V probably benign Het
Ptprcap A G 19: 4,156,268 I117V probably benign Het
Rhox12 T A X: 38,107,881 D88V possibly damaging Het
Rnpc3 A G 3: 113,608,399 S500P probably damaging Het
Sdhd A T 9: 50,598,825 Y84N possibly damaging Het
Sema6d G A 2: 124,656,868 V233I probably benign Het
Vegfb A T 19: 6,985,487 I140N probably benign Het
Vldlr A G 19: 27,245,625 Y732C probably damaging Het
Vmn2r17 T A 5: 109,453,309 F824L probably damaging Het
Xdh A T 17: 73,943,890 N22K probably benign Het
Zc3h11a A C 1: 133,637,413 N249K probably benign Het
Zwilch T A 9: 64,160,924 D203V probably damaging 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
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
X0022:Bfsp1 UTSW 2 143858117 missense probably damaging 1.00
Posted On2015-04-16