Incidental Mutation 'R1816:Bfsp1'
ID 204396
Institutional Source Beutler Lab
Gene Symbol Bfsp1
Ensembl Gene ENSMUSG00000027420
Gene Name beaded filament structural protein 1, in lens-CP94
Synonyms filensin
MMRRC Submission 039844-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R1816 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 143826528-143863173 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 143841679 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 242 (A242T)
Ref Sequence ENSEMBL: ENSMUSP00000096899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028907] [ENSMUST00000099296]
AlphaFold A2AMT1
Predicted Effect probably benign
Transcript: ENSMUST00000028907
AA Change: A236T

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: A236T

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: A242T

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: A242T

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
Meta Mutation Damage Score 0.1066 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.9%
Validation Efficiency 99% (72/73)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T A 7: 40,994,798 (GRCm38) Y721* probably null Het
4933405L10Rik T A 8: 105,709,859 (GRCm38) V220E possibly damaging Het
4933434E20Rik T C 3: 90,053,091 (GRCm38) V13A possibly damaging Het
Adam1b T G 5: 121,501,725 (GRCm38) Q419P probably damaging Het
Ankib1 A G 5: 3,734,028 (GRCm38) V316A probably benign Het
Anks1 T A 17: 27,986,573 (GRCm38) D294E probably damaging Het
Atr T C 9: 95,866,694 (GRCm38) S431P probably benign Het
BC005561 A G 5: 104,517,834 (GRCm38) D74G probably benign Het
BC037034 A G 5: 138,260,341 (GRCm38) V548A possibly damaging Het
Bptf A T 11: 107,060,579 (GRCm38) V279E probably damaging Het
Camkk2 A G 5: 122,734,180 (GRCm38) L540P probably damaging Het
Cd84 A G 1: 171,872,750 (GRCm38) T145A possibly damaging Het
Ceacam12 T A 7: 18,071,765 (GRCm38) probably null Het
Cntnap5a G T 1: 116,428,888 (GRCm38) A823S probably benign Het
Cp T C 3: 19,968,220 (GRCm38) probably benign Het
Dhx58 A G 11: 100,703,152 (GRCm38) V163A probably damaging Het
Dicer1 T C 12: 104,722,151 (GRCm38) E389G probably damaging Het
Disp1 T A 1: 183,098,575 (GRCm38) D288V probably damaging Het
Dnah7a A G 1: 53,631,742 (GRCm38) probably benign Het
Eaf2 T G 16: 36,808,009 (GRCm38) probably benign Het
Efna1 T C 3: 89,276,387 (GRCm38) N44S possibly damaging Het
Etnppl T C 3: 130,634,562 (GRCm38) I462T probably benign Het
Fam83d G T 2: 158,768,150 (GRCm38) A13S possibly damaging Het
Fer1l4 C T 2: 156,035,199 (GRCm38) V1139M probably damaging Het
Fstl1 A G 16: 37,826,724 (GRCm38) probably null Het
Gm14226 A T 2: 155,025,629 (GRCm38) D502V probably damaging Het
Gm5117 T A 8: 31,738,958 (GRCm38) noncoding transcript Het
Gm973 A G 1: 59,582,399 (GRCm38) N566S probably damaging Het
Grm7 A T 6: 111,495,791 (GRCm38) K16* probably null Het
Hbb-bh2 G A 7: 103,840,378 (GRCm38) T17I possibly damaging Het
Htt C T 5: 34,803,740 (GRCm38) A237V probably benign Het
Itga6 T C 2: 71,840,809 (GRCm38) V665A probably benign Het
Klf4 G T 4: 55,530,977 (GRCm38) R45S probably benign Het
Mki67 T C 7: 135,707,387 (GRCm38) D445G possibly damaging Het
Myo10 T C 15: 25,800,200 (GRCm38) V1454A probably damaging Het
Nrbp1 T A 5: 31,245,813 (GRCm38) I210N probably damaging Het
Nudt12 G A 17: 59,010,136 (GRCm38) P172L probably damaging Het
Odam A G 5: 87,889,470 (GRCm38) probably null Het
Olfr1080 A T 2: 86,553,667 (GRCm38) C152* probably null Het
Olfr1179 T G 2: 88,402,599 (GRCm38) I112L possibly damaging Het
Olfr393 T C 11: 73,847,199 (GRCm38) K309E probably benign Het
Olfr508 T C 7: 108,630,157 (GRCm38) L55P probably damaging Het
Olfr695 A T 7: 106,873,488 (GRCm38) Y252* probably null Het
Olfr998 G T 2: 85,590,925 (GRCm38) K128N probably benign Het
Pcm1 T A 8: 41,309,537 (GRCm38) S1412T probably damaging Het
Pgap1 A G 1: 54,492,057 (GRCm38) L753P probably damaging Het
Pi4k2b T C 5: 52,750,746 (GRCm38) S153P probably damaging Het
Pik3c2b C T 1: 133,101,370 (GRCm38) A1398V probably benign Het
Pkhd1l1 T C 15: 44,528,239 (GRCm38) I1567T possibly damaging Het
Rapgef6 G A 11: 54,694,488 (GRCm38) V1571I probably benign Het
Rfx2 C A 17: 56,808,305 (GRCm38) E5* probably null Het
Sh3tc1 C A 5: 35,700,584 (GRCm38) probably null Het
Slc22a12 G A 19: 6,542,653 (GRCm38) Q20* probably null Het
Slc4a1 A G 11: 102,351,230 (GRCm38) C861R probably damaging Het
Snrnp25 G A 11: 32,207,565 (GRCm38) V48I probably damaging Het
Spata1 G T 3: 146,481,207 (GRCm38) P211Q probably damaging Het
Srgap1 G A 10: 121,925,971 (GRCm38) Q91* probably null Het
Stab1 T C 14: 31,157,465 (GRCm38) D686G probably benign Het
Stx8 T A 11: 68,011,326 (GRCm38) M112K possibly damaging Het
Tfap2b A T 1: 19,209,212 (GRCm38) K15N probably damaging Het
Thbs2 C A 17: 14,670,713 (GRCm38) D1052Y probably benign Het
Thbs2 T A 17: 14,670,714 (GRCm38) E1051D probably benign Het
Tlr2 T C 3: 83,838,209 (GRCm38) Y189C probably damaging Het
Tmem268 C A 4: 63,565,710 (GRCm38) P55T possibly damaging Het
Tnpo3 T C 6: 29,557,017 (GRCm38) H745R probably benign Het
Ube2s T C 7: 4,811,555 (GRCm38) N2S probably damaging Het
Ulk1 A G 5: 110,787,831 (GRCm38) Y39H probably damaging Het
Vmn1r49 G T 6: 90,072,803 (GRCm38) D72E possibly damaging Het
Vmn2r27 C A 6: 124,230,371 (GRCm38) G104* probably null Het
Vmn2r92 A G 17: 18,166,677 (GRCm38) I93V probably damaging Het
Zdhhc20 A T 14: 57,890,143 (GRCm38) V13E probably benign Het
Zfp958 A T 8: 4,629,147 (GRCm38) I391F possibly damaging Het
Other mutations in Bfsp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Bfsp1 APN 2 143,831,892 (GRCm38) missense probably damaging 1.00
IGL01457:Bfsp1 APN 2 143,827,644 (GRCm38) splice site probably benign
IGL02329:Bfsp1 APN 2 143,862,646 (GRCm38) missense probably benign
IGL02354:Bfsp1 APN 2 143,831,987 (GRCm38) missense probably damaging 1.00
IGL02361:Bfsp1 APN 2 143,831,987 (GRCm38) missense probably damaging 1.00
IGL02365:Bfsp1 APN 2 143,826,736 (GRCm38) missense probably damaging 1.00
IGL02407:Bfsp1 APN 2 143,826,933 (GRCm38) missense probably benign 0.00
IGL03118:Bfsp1 APN 2 143,827,333 (GRCm38) missense possibly damaging 0.94
I0000:Bfsp1 UTSW 2 143,845,968 (GRCm38) missense probably damaging 1.00
R0112:Bfsp1 UTSW 2 143,827,643 (GRCm38) splice site probably null
R0657:Bfsp1 UTSW 2 143,827,650 (GRCm38) splice site probably benign
R1642:Bfsp1 UTSW 2 143,841,763 (GRCm38) missense probably damaging 1.00
R2061:Bfsp1 UTSW 2 143,862,678 (GRCm38) missense probably benign 0.08
R2248:Bfsp1 UTSW 2 143,827,652 (GRCm38) splice site probably null
R3024:Bfsp1 UTSW 2 143,845,959 (GRCm38) missense probably benign 0.19
R4029:Bfsp1 UTSW 2 143,831,829 (GRCm38) splice site probably benign
R4914:Bfsp1 UTSW 2 143,827,471 (GRCm38) missense probably benign 0.21
R4915:Bfsp1 UTSW 2 143,827,471 (GRCm38) missense probably benign 0.21
R4917:Bfsp1 UTSW 2 143,827,471 (GRCm38) missense probably benign 0.21
R4918:Bfsp1 UTSW 2 143,827,471 (GRCm38) missense probably benign 0.21
R5018:Bfsp1 UTSW 2 143,862,882 (GRCm38) missense possibly damaging 0.81
R5202:Bfsp1 UTSW 2 143,826,971 (GRCm38) missense probably benign
R5267:Bfsp1 UTSW 2 143,827,051 (GRCm38) missense probably benign 0.03
R5304:Bfsp1 UTSW 2 143,827,291 (GRCm38) missense probably benign 0.34
R5825:Bfsp1 UTSW 2 143,827,459 (GRCm38) missense probably benign 0.01
R6465:Bfsp1 UTSW 2 143,858,055 (GRCm38) critical splice donor site probably null
R6888:Bfsp1 UTSW 2 143,826,719 (GRCm38) missense probably benign 0.31
R7036:Bfsp1 UTSW 2 143,826,923 (GRCm38) missense possibly damaging 0.65
R7075:Bfsp1 UTSW 2 143,848,965 (GRCm38) missense probably damaging 1.00
R7362:Bfsp1 UTSW 2 143,826,875 (GRCm38) missense probably benign 0.19
R7538:Bfsp1 UTSW 2 143,831,835 (GRCm38) critical splice donor site probably null
R7839:Bfsp1 UTSW 2 143,831,850 (GRCm38) missense possibly damaging 0.79
X0022:Bfsp1 UTSW 2 143,858,117 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTTGGTAGAAGAGATGTGACTC -3'
(R):5'- GAAGGGTTCTTACTCCTTCATTGTC -3'

Sequencing Primer
(F):5'- GTCCCAGAACTCTTCTTAGCAGAATG -3'
(R):5'- CTTCATTGTCTCTTTTATCTTTGCAC -3'
Posted On 2014-06-23