Incidental Mutation 'IGL01457:Bfsp1'
ID84857
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: 0.190) question?
Stock #IGL01457
Quality Score
Status
Chromosome2
Chromosomal Location143826528-143863173 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 143827644 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028907] [ENSMUST00000099296]
Predicted Effect probably benign
Transcript: ENSMUST00000028907
SMART Domains Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420

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
SMART Domains Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420

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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,660,951 Y1019F probably benign Het
4930455H04Rik T G 3: 116,968,551 probably benign Het
4930548H24Rik A T 5: 31,487,427 I175L probably benign Het
4932415D10Rik C A 10: 82,284,734 K4147N probably damaging Het
9830107B12Rik A T 17: 48,128,583 probably benign Het
Abcc8 A G 7: 46,135,493 V737A possibly damaging Het
Adamts20 T A 15: 94,331,448 Y930F probably damaging Het
Alkbh8 T A 9: 3,369,825 F365I probably damaging Het
App G A 16: 85,103,239 H108Y probably damaging Het
Cabin1 T C 10: 75,742,429 N478S probably damaging Het
Camsap3 G A 8: 3,604,795 V796I probably damaging Het
Carns1 A T 19: 4,166,499 probably null Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Cltc C T 11: 86,702,248 M1600I probably benign Het
Cnot1 T A 8: 95,741,009 N1499Y probably damaging Het
Crebbp T A 16: 4,124,768 I196L probably damaging Het
Drc3 C A 11: 60,358,649 probably benign Het
Fam161a T A 11: 23,020,702 Y234* probably null Het
Il1r1 C A 1: 40,313,170 P500Q probably damaging Het
Katnal1 G T 5: 148,893,797 probably benign Het
Klhdc2 A G 12: 69,297,053 N20S probably benign Het
Kmt2e A T 5: 23,502,019 T1527S possibly damaging Het
Magi1 C T 6: 93,747,224 G270D probably damaging Het
Mdn1 T A 4: 32,715,922 S2035T possibly damaging Het
Mki67 A T 7: 135,699,546 M1253K probably benign Het
Myh7 T C 14: 54,988,879 M435V possibly damaging Het
Myh8 A G 11: 67,292,679 I739V probably benign Het
Npnt T C 3: 132,885,982 K430R probably damaging Het
Nrd1 A G 4: 109,047,660 N696S probably benign Het
Oit3 T C 10: 59,425,484 probably benign Het
Olfr1350 A G 7: 6,570,212 T74A probably benign Het
Olfr478 A T 7: 108,032,121 I74K possibly damaging Het
Olfr571 A G 7: 102,909,719 I40T possibly damaging Het
Olfr642 A G 7: 104,050,169 Y62H probably damaging Het
Pkd1 G A 17: 24,594,821 probably null Het
Plat A G 8: 22,776,828 M279V probably benign Het
Prkd1 A T 12: 50,392,910 L378* probably null Het
Rasgef1a C T 6: 118,084,545 T157I probably benign Het
Rbm22 A G 18: 60,560,857 N11S probably damaging Het
Ros1 T C 10: 52,046,330 probably benign Het
Sema6d T A 2: 124,653,642 F3Y unknown Het
Sis T C 3: 72,961,021 D112G probably benign Het
Slit1 C A 19: 41,611,044 G1023C probably damaging Het
Sptb T C 12: 76,612,555 probably benign Het
Sspo T C 6: 48,498,343 I4881T probably benign Het
Supt6 C A 11: 78,221,143 D1038Y probably damaging Het
Tbc1d2b A T 9: 90,205,091 L945Q probably damaging Het
Tgfbr3 G T 5: 107,149,898 A212E probably damaging Het
Tipin A G 9: 64,304,408 T259A probably benign Het
Traip T C 9: 107,970,472 S365P probably benign Het
Tst T C 15: 78,399,767 T287A probably benign Het
Tube1 C T 10: 39,145,722 probably benign Het
Uhrf1bp1l T C 10: 89,805,762 S932P probably benign Het
Vmn1r37 T A 6: 66,731,409 N6K probably damaging Het
Vmn2r111 C A 17: 22,571,985 E111* probably null Het
Vmn2r17 C T 5: 109,453,032 T732I probably benign Het
Vmn2r69 A T 7: 85,406,628 D767E possibly damaging Het
Other mutations in Bfsp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Bfsp1 APN 2 143831892 missense probably damaging 1.00
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
X0022:Bfsp1 UTSW 2 143858117 missense probably damaging 1.00
Posted On2013-11-11