Incidental Mutation 'IGL00809:Bfsp2'
ID9264
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bfsp2
Ensembl Gene ENSMUSG00000032556
Gene Namebeaded filament structural protein 2, phakinin
SynonymsCP49
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.150) question?
Stock #IGL00809
Quality Score
Status
Chromosome9
Chromosomal Location103424924-103480420 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103453098 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 180 (E180G)
Ref Sequence ENSEMBL: ENSMUSP00000116249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124310]
Predicted Effect possibly damaging
Transcript: ENSMUST00000124310
AA Change: E180G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116249
Gene: ENSMUSG00000032556
AA Change: E180G

DomainStartEndE-ValueType
Filament 102 416 6.85e-79 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136636
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143564
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145185
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216140
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]
PHENOTYPE: Mutations at this locus result in eye abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,235,786 T113A possibly damaging Het
Akap10 T A 11: 61,915,071 N277I possibly damaging Het
Ankrd24 A T 10: 81,643,067 probably benign Het
Cd55 A T 1: 130,452,511 Y243* probably null Het
Col17a1 G T 19: 47,681,403 H103Q probably damaging Het
Diaph3 A T 14: 87,000,027 H311Q probably damaging Het
Dnah1 G A 14: 31,300,809 Q1124* probably null Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Fzr1 G T 10: 81,370,525 S137* probably null Het
Gnl3 A G 14: 31,014,189 I298T possibly damaging Het
Hnrnpa2b1 C T 6: 51,467,013 G65S probably damaging Het
Hsd17b7 A T 1: 169,965,755 Y88* probably null Het
Itga2 C A 13: 114,877,625 A256S probably damaging Het
Itga7 T C 10: 128,939,169 probably null Het
Ivl T A 3: 92,572,512 Q82L possibly damaging Het
Lin28a C T 4: 134,008,056 G90S probably damaging Het
Lkaaear1 A T 2: 181,697,334 S108T probably benign Het
Mfsd11 T A 11: 116,859,351 S105T probably damaging Het
Mpp6 C T 6: 50,196,589 R478C probably benign Het
Osbpl9 C T 4: 109,133,763 R100H probably damaging Het
Pclo T A 5: 14,675,797 D1556E unknown Het
Phip G A 9: 82,871,303 S1796F probably damaging Het
Phtf1 T C 3: 103,988,667 S226P probably benign Het
Rapgef6 C A 11: 54,649,300 Q734K probably damaging Het
Scn9a A T 2: 66,483,935 I1802N probably damaging Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Stab2 A T 10: 86,848,174 probably benign Het
Trpc7 T C 13: 56,822,488 I373V probably benign Het
Ttbk2 T A 2: 120,760,269 D303V probably damaging Het
Ylpm1 T C 12: 85,049,194 I1163T probably damaging Het
Other mutations in Bfsp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01160:Bfsp2 APN 9 103480168 missense probably benign 0.02
R0408:Bfsp2 UTSW 9 103480100 missense probably benign 0.06
R0463:Bfsp2 UTSW 9 103426655 missense possibly damaging 0.94
R1454:Bfsp2 UTSW 9 103480225 start codon destroyed probably null 0.59
R1854:Bfsp2 UTSW 9 103449831 missense probably benign 0.01
R2139:Bfsp2 UTSW 9 103449875 missense probably benign 0.19
R2187:Bfsp2 UTSW 9 103426777 nonsense probably null
R3975:Bfsp2 UTSW 9 103480072 missense probably benign 0.00
R4823:Bfsp2 UTSW 9 103479883 missense probably damaging 1.00
R5035:Bfsp2 UTSW 9 103479866 missense probably benign 0.35
R5973:Bfsp2 UTSW 9 103432657 critical splice donor site probably null
R6005:Bfsp2 UTSW 9 103448550 missense probably damaging 0.99
R6106:Bfsp2 UTSW 9 103479824 missense probably benign 0.09
R6348:Bfsp2 UTSW 9 103480072 missense probably benign 0.17
R6364:Bfsp2 UTSW 9 103448628 missense probably damaging 0.98
R6701:Bfsp2 UTSW 9 103479878 missense possibly damaging 0.68
R6736:Bfsp2 UTSW 9 103480204 missense possibly damaging 0.60
R7129:Bfsp2 UTSW 9 103479919 missense probably damaging 0.99
R7204:Bfsp2 UTSW 9 103432666 missense probably damaging 0.99
R7329:Bfsp2 UTSW 9 103449922 missense probably benign 0.01
R7453:Bfsp2 UTSW 9 103453107 missense probably damaging 1.00
Posted On2012-12-06