Incidental Mutation 'IGL02354:Bfsp1'
ID 289598
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bfsp1
Ensembl Gene ENSMUSG00000027420
Gene Name beaded filament structural protein 1, in lens-CP94
Synonyms filensin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.163) question?
Stock # IGL02354
Quality Score
Status
Chromosome 2
Chromosomal Location 143668448-143705093 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143673907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 261 (E261G)
Ref Sequence ENSEMBL: ENSMUSP00000028907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028907] [ENSMUST00000099296]
AlphaFold A2AMT1
Predicted Effect probably damaging
Transcript: ENSMUST00000028907
AA Change: E261G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: E261G

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: E267G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: E267G

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp1 A C 6: 55,322,498 (GRCm39) L164F possibly damaging Het
Brinp2 A G 1: 158,074,748 (GRCm39) C458R probably damaging Het
Cacng3 T G 7: 122,271,169 (GRCm39) M58R possibly damaging Het
Cfap43 A T 19: 47,885,852 (GRCm39) C254* probably null Het
Cnga1 T C 5: 72,774,061 (GRCm39) probably null Het
Dis3 A T 14: 99,317,148 (GRCm39) Y765* probably null Het
Dpep1 T A 8: 123,926,957 (GRCm39) S260R probably benign Het
Elmod1 A G 9: 53,838,842 (GRCm39) L106P probably damaging Het
Fut10 A G 8: 31,691,398 (GRCm39) Y81C probably damaging Het
Fzd10 T A 5: 128,678,932 (GRCm39) D217E possibly damaging Het
Gap43 T C 16: 42,160,871 (GRCm39) probably benign Het
Gigyf1 T C 5: 137,517,989 (GRCm39) probably benign Het
Gpc5 C T 14: 115,370,699 (GRCm39) R175* probably null Het
Gpi-ps T C 8: 5,690,896 (GRCm39) noncoding transcript Het
Gpr61 A G 3: 108,057,534 (GRCm39) S376P probably damaging Het
Kcna1 C A 6: 126,619,869 (GRCm39) Q150H probably damaging Het
Lama5 A T 2: 179,835,677 (GRCm39) C1225* probably null Het
Lrrc25 A T 8: 71,070,477 (GRCm39) D86V probably benign Het
Madd A T 2: 90,992,543 (GRCm39) V1043E probably benign Het
Mov10 A T 3: 104,711,437 (GRCm39) probably benign Het
Mzb1 T A 18: 35,782,250 (GRCm39) H46L possibly damaging Het
Nos3 A T 5: 24,572,621 (GRCm39) I187F probably damaging Het
Or4c1 T A 2: 89,133,526 (GRCm39) M137L probably benign Het
Or5p53 T A 7: 107,533,484 (GRCm39) Y252* probably null Het
Or6c69c A G 10: 129,911,143 (GRCm39) Y288C probably damaging Het
Pgap1 T C 1: 54,551,975 (GRCm39) T486A probably benign Het
Prdm9 C T 17: 15,783,109 (GRCm39) V58M probably damaging Het
Prkd2 A G 7: 16,581,583 (GRCm39) Y146C probably damaging Het
Psmd9 G T 5: 123,386,379 (GRCm39) R175I probably damaging Het
Pxdn A G 12: 30,049,188 (GRCm39) D618G probably damaging Het
Rgs6 A T 12: 82,665,393 (GRCm39) probably benign Het
Rrm2 G T 12: 24,761,438 (GRCm39) probably benign Het
Sall1 G T 8: 89,759,677 (GRCm39) S142R probably benign Het
Shank3 T C 15: 89,388,536 (GRCm39) V376A probably damaging Het
Slc5a10 A G 11: 61,610,666 (GRCm39) probably null Het
Slfn3 A T 11: 83,104,068 (GRCm39) Q313L possibly damaging Het
Snapc4 A G 2: 26,257,319 (GRCm39) probably benign Het
Sptbn1 A T 11: 30,060,783 (GRCm39) F2062L probably damaging Het
Tbc1d10a T C 11: 4,165,047 (GRCm39) V500A probably benign Het
Tcea1 T C 1: 4,966,570 (GRCm39) probably benign Het
Thsd7a T C 6: 12,348,192 (GRCm39) probably benign Het
Tm9sf4 C T 2: 153,029,570 (GRCm39) T173M probably benign Het
Tmtc2 T C 10: 105,107,387 (GRCm39) T709A probably benign Het
Zfp385b T C 2: 77,280,647 (GRCm39) E97G probably damaging Het
Zim1 A T 7: 6,685,873 (GRCm39) 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
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
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
Posted On 2015-04-16