Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01457:Bfsp1'

84857

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: 0.141) question?

Stock #

IGL01457

Quality Score

Status

Chromosome

Chromosomal Location

143826528-143863173 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 143827644 bp (GRCm38)

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 benign
Transcript: ENSMUST00000028907

SMART Domains

Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420

Domain	Start	End	E-Value	Type
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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,660,951	Y1019F	probably benign	Het
4930455H04Rik	T	G	3: 116,968,551		probably benign	Het
4930548H24Rik	A	T	5: 31,487,427	I175L	probably benign	Het
4932415D10Rik	C	A	10: 82,284,734	K4147N	probably damaging	Het
9830107B12Rik	A	T	17: 48,128,583		probably benign	Het
Abcc8	A	G	7: 46,135,493	V737A	possibly damaging	Het
Adamts20	T	A	15: 94,331,448	Y930F	probably damaging	Het
Alkbh8	T	A	9: 3,369,825	F365I	probably damaging	Het
App	G	A	16: 85,103,239	H108Y	probably damaging	Het
Cabin1	T	C	10: 75,742,429	N478S	probably damaging	Het
Camsap3	G	A	8: 3,604,795	V796I	probably damaging	Het
Carns1	A	T	19: 4,166,499		probably null	Het
Clca1	C	T	3: 145,007,778	M697I	probably benign	Het
Cltc	C	T	11: 86,702,248	M1600I	probably benign	Het
Cnot1	T	A	8: 95,741,009	N1499Y	probably damaging	Het
Crebbp	T	A	16: 4,124,768	I196L	probably damaging	Het
Drc3	C	A	11: 60,358,649		probably benign	Het
Fam161a	T	A	11: 23,020,702	Y234*	probably null	Het
Il1r1	C	A	1: 40,313,170	P500Q	probably damaging	Het
Katnal1	G	T	5: 148,893,797		probably benign	Het
Klhdc2	A	G	12: 69,297,053	N20S	probably benign	Het
Kmt2e	A	T	5: 23,502,019	T1527S	possibly damaging	Het
Magi1	C	T	6: 93,747,224	G270D	probably damaging	Het
Mdn1	T	A	4: 32,715,922	S2035T	possibly damaging	Het
Mki67	A	T	7: 135,699,546	M1253K	probably benign	Het
Myh7	T	C	14: 54,988,879	M435V	possibly damaging	Het
Myh8	A	G	11: 67,292,679	I739V	probably benign	Het
Npnt	T	C	3: 132,885,982	K430R	probably damaging	Het
Nrd1	A	G	4: 109,047,660	N696S	probably benign	Het
Oit3	T	C	10: 59,425,484		probably benign	Het
Olfr1350	A	G	7: 6,570,212	T74A	probably benign	Het
Olfr478	A	T	7: 108,032,121	I74K	possibly damaging	Het
Olfr571	A	G	7: 102,909,719	I40T	possibly damaging	Het
Olfr642	A	G	7: 104,050,169	Y62H	probably damaging	Het
Pkd1	G	A	17: 24,594,821		probably null	Het
Plat	A	G	8: 22,776,828	M279V	probably benign	Het
Prkd1	A	T	12: 50,392,910	L378*	probably null	Het
Rasgef1a	C	T	6: 118,084,545	T157I	probably benign	Het
Rbm22	A	G	18: 60,560,857	N11S	probably damaging	Het
Ros1	T	C	10: 52,046,330		probably benign	Het
Sema6d	T	A	2: 124,653,642	F3Y	unknown	Het
Sis	T	C	3: 72,961,021	D112G	probably benign	Het
Slit1	C	A	19: 41,611,044	G1023C	probably damaging	Het
Sptb	T	C	12: 76,612,555		probably benign	Het
Sspo	T	C	6: 48,498,343	I4881T	probably benign	Het
Supt6	C	A	11: 78,221,143	D1038Y	probably damaging	Het
Tbc1d2b	A	T	9: 90,205,091	L945Q	probably damaging	Het
Tgfbr3	G	T	5: 107,149,898	A212E	probably damaging	Het
Tipin	A	G	9: 64,304,408	T259A	probably benign	Het
Traip	T	C	9: 107,970,472	S365P	probably benign	Het
Tst	T	C	15: 78,399,767	T287A	probably benign	Het
Tube1	C	T	10: 39,145,722		probably benign	Het
Uhrf1bp1l	T	C	10: 89,805,762	S932P	probably benign	Het
Vmn1r37	T	A	6: 66,731,409	N6K	probably damaging	Het
Vmn2r111	C	A	17: 22,571,985	E111*	probably null	Het
Vmn2r17	C	T	5: 109,453,032	T732I	probably benign	Het
Vmn2r69	A	T	7: 85,406,628	D767E	possibly damaging	Het

Other mutations in Bfsp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Bfsp1	APN	2	143831892	missense	probably damaging	1.00
IGL02329:Bfsp1	APN	2	143862646	missense	probably benign
IGL02354:Bfsp1	APN	2	143831987	missense	probably damaging	1.00
IGL02361:Bfsp1	APN	2	143831987	missense	probably damaging	1.00
IGL02365:Bfsp1	APN	2	143826736	missense	probably damaging	1.00
IGL02407:Bfsp1	APN	2	143826933	missense	probably benign	0.00
IGL03118:Bfsp1	APN	2	143827333	missense	possibly damaging	0.94
I0000:Bfsp1	UTSW	2	143845968	missense	probably damaging	1.00
R0112:Bfsp1	UTSW	2	143827643	splice site	probably null
R0657:Bfsp1	UTSW	2	143827650	splice site	probably benign
R1642:Bfsp1	UTSW	2	143841763	missense	probably damaging	1.00
R1816:Bfsp1	UTSW	2	143841679	missense	probably benign	0.23
R2061:Bfsp1	UTSW	2	143862678	missense	probably benign	0.08
R2248:Bfsp1	UTSW	2	143827652	splice site	probably null
R3024:Bfsp1	UTSW	2	143845959	missense	probably benign	0.19
R4029:Bfsp1	UTSW	2	143831829	splice site	probably benign
R4914:Bfsp1	UTSW	2	143827471	missense	probably benign	0.21
R4915:Bfsp1	UTSW	2	143827471	missense	probably benign	0.21
R4917:Bfsp1	UTSW	2	143827471	missense	probably benign	0.21
R4918:Bfsp1	UTSW	2	143827471	missense	probably benign	0.21
R5018:Bfsp1	UTSW	2	143862882	missense	possibly damaging	0.81
R5202:Bfsp1	UTSW	2	143826971	missense	probably benign
R5267:Bfsp1	UTSW	2	143827051	missense	probably benign	0.03
R5304:Bfsp1	UTSW	2	143827291	missense	probably benign	0.34
R5825:Bfsp1	UTSW	2	143827459	missense	probably benign	0.01
R6465:Bfsp1	UTSW	2	143858055	critical splice donor site	probably null
R6888:Bfsp1	UTSW	2	143826719	missense	probably benign	0.31
R7036:Bfsp1	UTSW	2	143826923	missense	possibly damaging	0.65
R7075:Bfsp1	UTSW	2	143848965	missense	probably damaging	1.00
R7362:Bfsp1	UTSW	2	143826875	missense	probably benign	0.19
R7538:Bfsp1	UTSW	2	143831835	critical splice donor site	probably null
R7839:Bfsp1	UTSW	2	143831850	missense	possibly damaging	0.79
X0022:Bfsp1	UTSW	2	143858117	missense	probably damaging	1.00

Posted On

2013-11-11