Incidental Mutation 'R4914:Bfsp1'
ID 379779
Institutional Source Beutler Lab
Gene Symbol Bfsp1
Ensembl Gene ENSMUSG00000027420
Gene Name beaded filament structural protein 1, in lens-CP94
Synonyms filensin
MMRRC Submission 042516-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # R4914 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 143668448-143705093 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 143669391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 396 (R396Q)
Ref Sequence ENSEMBL: ENSMUSP00000028907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028907] [ENSMUST00000099296]
AlphaFold A2AMT1
Predicted Effect probably benign
Transcript: ENSMUST00000028907
AA Change: R396Q

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: R396Q

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: R402Q

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: R402Q

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,870,423 (GRCm39) V281M probably damaging Het
Ap1b1 C T 11: 4,974,400 (GRCm39) T363I possibly damaging Het
Apobec2 T C 17: 48,730,153 (GRCm39) E171G probably benign Het
Arhgef1 T A 7: 24,623,264 (GRCm39) L436Q probably damaging Het
Atxn2 T A 5: 121,887,159 (GRCm39) D276E probably damaging Het
AU040320 A T 4: 126,729,469 (GRCm39) K544* probably null Het
Baz2b T A 2: 59,744,387 (GRCm39) T1373S possibly damaging Het
Bcas1 T C 2: 170,220,806 (GRCm39) D324G probably damaging Het
Bdp1 A G 13: 100,192,844 (GRCm39) V1330A probably benign Het
Bpifb9b T A 2: 154,156,026 (GRCm39) probably null Het
Cabs1 T C 5: 88,128,296 (GRCm39) Y316H probably damaging Het
Carmil2 A G 8: 106,420,175 (GRCm39) K908E possibly damaging Het
Ccdc188 C A 16: 18,036,083 (GRCm39) P86Q probably benign Het
Cdh26 T C 2: 178,091,614 (GRCm39) S58P probably benign Het
Cemip2 G A 19: 21,786,653 (GRCm39) V472I probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dclk2 A T 3: 86,732,049 (GRCm39) probably null Het
Dennd5a A G 7: 109,500,296 (GRCm39) F943S probably damaging Het
Disp2 A T 2: 118,620,935 (GRCm39) S556C probably damaging Het
Dnai3 A G 3: 145,772,582 (GRCm39) I488T probably damaging Het
Dpp4 A T 2: 62,178,236 (GRCm39) M632K probably benign Het
E030030I06Rik G A 10: 21,990,197 (GRCm39) T192M possibly damaging Het
Ece2 C T 16: 20,462,820 (GRCm39) R582C probably damaging Het
Ehbp1 T C 11: 22,096,592 (GRCm39) D299G probably benign Het
Emc1 C T 4: 139,102,476 (GRCm39) R924* probably null Het
Etaa1 A T 11: 17,896,532 (GRCm39) S528R probably benign Het
Exoc2 A T 13: 31,060,796 (GRCm39) N569K probably benign Het
Fasn T G 11: 120,707,472 (GRCm39) N799T probably benign Het
Fbxo3 T G 2: 103,885,311 (GRCm39) N388K probably damaging Het
Fbxw16 C T 9: 109,267,245 (GRCm39) V329I probably benign Het
Fer1l4 T C 2: 155,873,220 (GRCm39) K1287E probably benign Het
Fermt1 A G 2: 132,748,760 (GRCm39) V621A probably damaging Het
Fnbp4 A G 2: 90,581,513 (GRCm39) T189A probably benign Het
Fut8 G T 12: 77,521,818 (GRCm39) A486S probably damaging Het
G6pd2 T A 5: 61,967,672 (GRCm39) Y482* probably null Het
Gfra1 A T 19: 58,255,522 (GRCm39) S308R probably damaging Het
Glp2r G T 11: 67,648,419 (GRCm39) Y94* probably null Het
Gper1 A G 5: 139,412,623 (GRCm39) I323V probably benign Het
Grm5 C A 7: 87,779,337 (GRCm39) R958S probably benign Het
H2-DMb2 A G 17: 34,369,503 (GRCm39) T85A probably benign Het
Hgsnat A G 8: 26,454,866 (GRCm39) S220P probably damaging Het
Hspa12a A T 19: 58,787,884 (GRCm39) M646K probably damaging Het
Inpp5f A T 7: 128,286,840 (GRCm39) D573V probably damaging Het
Jmjd1c A G 10: 67,054,750 (GRCm39) N344D probably damaging Het
Kif1c A G 11: 70,599,681 (GRCm39) E471G probably damaging Het
Lalba T A 15: 98,380,061 (GRCm39) N63I probably benign Het
Mcoln1 T A 8: 3,557,483 (GRCm39) L163* probably null Het
Mllt1 T C 17: 57,206,813 (GRCm39) T344A probably benign Het
Mpzl2 T A 9: 44,955,146 (GRCm39) D114E probably benign Het
Myef2 T A 2: 124,951,659 (GRCm39) K259* probably null Het
Myh8 C A 11: 67,183,510 (GRCm39) D740E probably damaging Het
Myo1b A T 1: 51,863,367 (GRCm39) probably null Het
Nfix T C 8: 85,498,458 (GRCm39) I172V probably benign Het
Or1b1 A T 2: 36,995,170 (GRCm39) I164N possibly damaging Het
Or2h2 T C 17: 37,396,883 (GRCm39) Y58C probably damaging Het
Or2w1b A T 13: 21,300,567 (GRCm39) Q235L probably benign Het
Or3a1b A T 11: 74,012,705 (GRCm39) I197F probably benign Het
Or5b106 T A 19: 13,123,355 (GRCm39) I223L possibly damaging Het
Orc1 T C 4: 108,461,755 (GRCm39) F584S probably damaging Het
Osgin1 C A 8: 120,169,283 (GRCm39) A60D possibly damaging Het
Pde4dip C A 3: 97,622,644 (GRCm39) V1522L probably benign Het
Phactr1 A G 13: 43,287,439 (GRCm39) T556A possibly damaging Het
Ppfia2 G C 10: 106,597,978 (GRCm39) L180F probably damaging Het
Ppm1k T A 6: 57,487,762 (GRCm39) N354Y probably damaging Het
Ppp1r1a A G 15: 103,446,265 (GRCm39) V14A probably damaging Het
Prkcd A T 14: 30,327,395 (GRCm39) probably null Het
Ranbp17 T C 11: 33,163,425 (GRCm39) S1082G probably benign Het
Rere T A 4: 150,703,601 (GRCm39) W1528R probably damaging Het
Rnf103 T A 6: 71,487,248 (GRCm39) F626L possibly damaging Het
Rsrc2 A G 5: 123,877,613 (GRCm39) probably benign Het
Scin T A 12: 40,119,373 (GRCm39) I552F possibly damaging Het
Scn3a T C 2: 65,291,799 (GRCm39) N1649S probably damaging Het
Slain2 T A 5: 73,115,609 (GRCm39) M448K probably benign Het
Slc25a54 T C 3: 109,018,395 (GRCm39) F292L probably benign Het
Slc4a1 A G 11: 102,243,279 (GRCm39) V784A probably damaging Het
Slco1b2 G A 6: 141,615,096 (GRCm39) V334I probably benign Het
Slf2 T G 19: 44,960,100 (GRCm39) D1022E probably damaging Het
Smg8 T C 11: 86,971,536 (GRCm39) E745G probably damaging Het
Smyd1 T G 6: 71,196,321 (GRCm39) I322L probably benign Het
Snx13 G A 12: 35,182,032 (GRCm39) V694I possibly damaging Het
Sox6 T C 7: 115,076,199 (GRCm39) D814G probably damaging Het
Spag6 A T 2: 18,750,360 (GRCm39) I469F probably benign Het
Spsb2 A C 6: 124,786,711 (GRCm39) E148A probably benign Het
Srprb C A 9: 103,079,147 (GRCm39) V747L possibly damaging Het
Stam A G 2: 14,107,227 (GRCm39) E16G probably damaging Het
Taar5 A T 10: 23,847,468 (GRCm39) I289F possibly damaging Het
Tgif1 C T 17: 71,152,242 (GRCm39) R70H probably damaging Het
Top2a A T 11: 98,893,786 (GRCm39) L1036H probably damaging Het
Tph1 T A 7: 46,303,283 (GRCm39) I232F probably damaging Het
Ttn T C 2: 76,577,175 (GRCm39) T24573A probably damaging Het
Tub C T 7: 108,620,161 (GRCm39) R102* probably null Het
Ube2n T A 10: 95,377,607 (GRCm39) W129R possibly damaging Het
Usp8 A T 2: 126,562,060 (GRCm39) K85* probably null Het
Vmn2r81 A T 10: 79,106,357 (GRCm39) K445M probably null Het
Vps45 T C 3: 95,926,943 (GRCm39) T535A probably damaging Het
Zfp1007 A G 5: 109,826,396 (GRCm39) S59P probably damaging Het
Zfp157 T C 5: 138,454,557 (GRCm39) S252P possibly damaging Het
Zfp605 T A 5: 110,275,567 (GRCm39) C228* probably null Het
Zfp791 T A 8: 85,837,580 (GRCm39) I95L probably benign 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
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
R6465:Bfsp1 UTSW 2 143,699,975 (GRCm39) critical splice donor site probably null
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'- TGTGACGAGTACATGCCGTC -3'
(R):5'- GTGTTTTCCATTAGATCTTGCCAG -3'

Sequencing Primer
(F):5'- ACATGCCGTCCTTTGGTGAAAAG -3'
(R):5'- ATTAGATCTTGCCAGGGCCG -3'
Posted On 2016-04-15