Incidental Mutation 'R6465:Bfsp1'
ID 517764
Institutional Source Beutler Lab
Gene Symbol Bfsp1
Ensembl Gene ENSMUSG00000027420
Gene Name beaded filament structural protein 1, in lens-CP94
Synonyms filensin
MMRRC Submission 044598-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R6465 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 143668448-143705093 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 143699975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028907] [ENSMUST00000099296]
AlphaFold A2AMT1
Predicted Effect probably null
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 null
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120038
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 95% (40/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G A 6: 128,518,041 (GRCm39) T1415I probably damaging Het
Acvr2b T A 9: 119,262,369 (GRCm39) W461R probably damaging Het
Adam23 G T 1: 63,605,827 (GRCm39) C637F probably damaging Het
Apol8 T G 15: 77,634,148 (GRCm39) T143P probably benign Het
Cytl1 T C 5: 37,895,014 (GRCm39) V99A probably benign Het
Dock2 A T 11: 34,453,413 (GRCm39) V793E probably damaging Het
Fxyd5 G T 7: 30,737,305 (GRCm39) T81K probably damaging Het
Gcm1 A G 9: 77,972,151 (GRCm39) Y364C probably damaging Het
Get3 A T 8: 85,745,194 (GRCm39) M291K probably benign Het
Haghl T C 17: 26,002,793 (GRCm39) N190S possibly damaging Het
Inpp5j C A 11: 3,452,293 (GRCm39) R319L possibly damaging Het
Ints10 A G 8: 69,260,188 (GRCm39) N304S probably benign Het
Isoc1 T A 18: 58,804,328 (GRCm39) C119S probably damaging Het
Klhl18 A G 9: 110,257,988 (GRCm39) M414T probably benign Het
Krtap2-4 A G 11: 99,505,585 (GRCm39) probably benign Het
Krtap3-1 G A 11: 99,457,277 (GRCm39) P45S possibly damaging Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Myo7a A G 7: 97,711,887 (GRCm39) V1754A possibly damaging Het
Nedd4l T A 18: 65,288,335 (GRCm39) D119E probably benign Het
Nsun7 T C 5: 66,452,929 (GRCm39) V548A probably benign Het
Or5m12 A T 2: 85,734,883 (GRCm39) S172T probably benign Het
Or6b6 A T 7: 106,571,419 (GRCm39) V44E possibly damaging Het
Parvg A G 15: 84,213,141 (GRCm39) D127G probably damaging Het
Pate13 A T 9: 35,819,921 (GRCm39) N25Y possibly damaging Het
Piezo2 T A 18: 63,174,734 (GRCm39) M2007L possibly damaging Het
Pou2f3 A C 9: 43,051,162 (GRCm39) F175V probably damaging Het
Ptprn2 T C 12: 117,233,209 (GRCm39) I958T probably damaging Het
Pwwp2b T C 7: 138,835,951 (GRCm39) V464A probably benign Het
Pzp A G 6: 128,468,582 (GRCm39) Y982H probably damaging Het
Rad17 T A 13: 100,773,588 (GRCm39) N202I probably benign Het
Rtel1 T A 2: 180,977,733 (GRCm39) D271E possibly damaging Het
Sos2 T C 12: 69,643,549 (GRCm39) S943G probably benign Het
Tdpoz6 A G 3: 93,600,303 (GRCm39) I22T probably damaging Het
Tm9sf2 A G 14: 122,378,619 (GRCm39) H241R probably benign Het
Ttc8 A G 12: 98,930,829 (GRCm39) E291G probably damaging Het
Unc93a2 G T 17: 7,641,842 (GRCm39) T202K probably damaging Het
Wfikkn1 A G 17: 26,097,692 (GRCm39) C211R probably damaging Het
Ylpm1 T A 12: 85,096,576 (GRCm39) D1219E probably damaging Het
Zc3hav1 T C 6: 38,308,784 (GRCm39) Y586C possibly damaging Het
Zcchc4 T A 5: 52,976,618 (GRCm39) F471I probably benign Het
Zfp719 C A 7: 43,240,108 (GRCm39) Y565* probably null Het
Other mutations in Bfsp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Bfsp1 APN 2 143,673,812 (GRCm39) missense probably damaging 1.00
IGL01457:Bfsp1 APN 2 143,669,564 (GRCm39) splice site probably benign
IGL02329:Bfsp1 APN 2 143,704,566 (GRCm39) missense probably benign
IGL02354:Bfsp1 APN 2 143,673,907 (GRCm39) missense probably damaging 1.00
IGL02361:Bfsp1 APN 2 143,673,907 (GRCm39) missense probably damaging 1.00
IGL02365:Bfsp1 APN 2 143,668,656 (GRCm39) missense probably damaging 1.00
IGL02407:Bfsp1 APN 2 143,668,853 (GRCm39) missense probably benign 0.00
IGL03118:Bfsp1 APN 2 143,669,253 (GRCm39) missense possibly damaging 0.94
I0000:Bfsp1 UTSW 2 143,687,888 (GRCm39) missense probably damaging 1.00
R0112:Bfsp1 UTSW 2 143,669,563 (GRCm39) splice site probably null
R0657:Bfsp1 UTSW 2 143,669,570 (GRCm39) splice site probably benign
R1642:Bfsp1 UTSW 2 143,683,683 (GRCm39) missense probably damaging 1.00
R1816:Bfsp1 UTSW 2 143,683,599 (GRCm39) missense probably benign 0.23
R2061:Bfsp1 UTSW 2 143,704,598 (GRCm39) missense probably benign 0.08
R2248:Bfsp1 UTSW 2 143,669,572 (GRCm39) splice site probably null
R3024:Bfsp1 UTSW 2 143,687,879 (GRCm39) missense probably benign 0.19
R4029:Bfsp1 UTSW 2 143,673,749 (GRCm39) splice site probably benign
R4914:Bfsp1 UTSW 2 143,669,391 (GRCm39) missense probably benign 0.21
R4915:Bfsp1 UTSW 2 143,669,391 (GRCm39) missense probably benign 0.21
R4917:Bfsp1 UTSW 2 143,669,391 (GRCm39) missense probably benign 0.21
R4918:Bfsp1 UTSW 2 143,669,391 (GRCm39) missense probably benign 0.21
R5018:Bfsp1 UTSW 2 143,704,802 (GRCm39) missense possibly damaging 0.81
R5202:Bfsp1 UTSW 2 143,668,891 (GRCm39) missense probably benign
R5267:Bfsp1 UTSW 2 143,668,971 (GRCm39) missense probably benign 0.03
R5304:Bfsp1 UTSW 2 143,669,211 (GRCm39) missense probably benign 0.34
R5825:Bfsp1 UTSW 2 143,669,379 (GRCm39) missense probably benign 0.01
R6888:Bfsp1 UTSW 2 143,668,639 (GRCm39) missense probably benign 0.31
R7036:Bfsp1 UTSW 2 143,668,843 (GRCm39) missense possibly damaging 0.65
R7075:Bfsp1 UTSW 2 143,690,885 (GRCm39) missense probably damaging 1.00
R7362:Bfsp1 UTSW 2 143,668,795 (GRCm39) missense probably benign 0.19
R7538:Bfsp1 UTSW 2 143,673,755 (GRCm39) critical splice donor site probably null
R7839:Bfsp1 UTSW 2 143,673,770 (GRCm39) missense possibly damaging 0.79
X0022:Bfsp1 UTSW 2 143,700,037 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGTCAACATACCTAGCATACC -3'
(R):5'- ATTATTGGGAAGCAGTGGGC -3'

Sequencing Primer
(F):5'- GCATACCATATCAGCTTCATGG -3'
(R):5'- CTAGGAAGTGCGGAATTAGCTCTTTC -3'
Posted On 2018-05-21