Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02407:Bfsp1'

292108

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

Is this an essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

IGL02407

Quality Score

Status

Chromosome

Chromosomal Location

143826528-143863173 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143826933 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 575 (D575E)

Ref Sequence

ENSEMBL: ENSMUSP00000028907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028907] [ENSMUST00000099296]

Predicted Effect

probably benign
Transcript: ENSMUST00000028907
AA Change: D575E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: D575E

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
AA Change: D581E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: D581E

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	T	7: 34,256,484	N393K	probably damaging	Het
A2m	G	A	6: 121,668,616	W1040*	probably null	Het
Adgrv1	C	A	13: 81,479,670	A3691S	probably damaging	Het
Als2cl	T	A	9: 110,889,227	Y345*	probably null	Het
Aplp2	A	T	9: 31,158,527	Y496*	probably null	Het
Ash1l	T	C	3: 89,072,548	V2793A	probably damaging	Het
Ceacam20	G	T	7: 19,970,407	V128F	probably benign	Het
Cers4	A	T	8: 4,520,306	K204*	probably null	Het
Cog1	T	C	11: 113,654,026	Y345H	probably benign	Het
Col14a1	T	C	15: 55,448,876		probably benign	Het
Col19a1	A	T	1: 24,312,372		probably null	Het
Ctnnd2	T	A	15: 30,966,768	M955K	probably damaging	Het
Cyp3a16	A	T	5: 145,451,842	M275K	probably damaging	Het
Degs2	T	G	12: 108,691,995	T242P	probably damaging	Het
Elac2	T	C	11: 64,999,175	V612A	probably benign	Het
Elovl6	T	A	3: 129,605,084	F45I	probably damaging	Het
Exoc1	A	C	5: 76,545,346	N360H	probably damaging	Het
Fam221b	A	T	4: 43,666,309	S101T	possibly damaging	Het
Glyr1	A	G	16: 5,036,948	F89L	probably benign	Het
Herc4	C	A	10: 63,306,424	T668K	probably damaging	Het
Hibadh	C	T	6: 52,548,889	V259I	possibly damaging	Het
Hp1bp3	T	A	4: 138,240,672	D397E	probably damaging	Het
Ift80	G	T	3: 68,898,536	D724E	probably benign	Het
Igkv3-10	T	C	6: 70,573,239		probably benign	Het
Irf9	G	T	14: 55,605,221	A75S	possibly damaging	Het
Kif13a	C	T	13: 46,785,293	V76M	probably damaging	Het
Krt4	T	C	15: 101,921,305	I263V	probably benign	Het
Lgals8	A	G	13: 12,454,818	W87R	probably benign	Het
Mccc2	G	A	13: 99,991,308	P96L	probably damaging	Het
Megf11	A	C	9: 64,680,249	D443A	probably damaging	Het
Nckap5l	T	C	15: 99,423,127		probably benign	Het
Ndor1	A	G	2: 25,249,269	V230A	probably benign	Het
Nif3l1	G	T	1: 58,457,797	V294L	possibly damaging	Het
Olfr1285	T	A	2: 111,408,578		noncoding transcript	Het
Pcdhb13	T	A	18: 37,443,075	Y169N	probably damaging	Het
Peg3	A	G	7: 6,707,636	I1529T	probably damaging	Het
Piezo2	T	A	18: 63,146,844	I219F	probably damaging	Het
Prpf38a	G	A	4: 108,567,639	R242W	unknown	Het
Prrc2a	A	T	17: 35,160,504	D255E	unknown	Het
Rapgef6	G	T	11: 54,676,355	D1121Y	possibly damaging	Het
Ryr3	T	A	2: 112,754,958	H2761L	probably damaging	Het
Sel1l	A	T	12: 91,843,268		probably benign	Het
Slc30a9	A	G	5: 67,352,722	D539G	probably damaging	Het
Slc38a9	A	G	13: 112,690,243	S172G	probably benign	Het
Slfn2	C	A	11: 83,069,576	T127K	probably benign	Het
Smurf1	A	T	5: 144,884,724	M496K	probably damaging	Het
Srgap2	A	T	1: 131,319,602	V564D	probably damaging	Het
Stk32a	T	C	18: 43,297,511	I162T	probably benign	Het
Tchhl1	A	T	3: 93,471,327	N446I	possibly damaging	Het
Tmem64	T	A	4: 15,266,584	H211Q	probably damaging	Het
Trim3	T	C	7: 105,613,011	N586S	probably benign	Het
Trpm1	A	G	7: 64,219,121	E507G	probably damaging	Het
Tyk2	G	T	9: 21,109,227		probably benign	Het
Ugt3a2	A	T	15: 9,365,230	K310*	probably null	Het
Unc13a	T	A	8: 71,648,942	N1022Y	probably damaging	Het
Vmn1r172	A	T	7: 23,659,803	N38Y	probably damaging	Het
Vmn2r100	A	T	17: 19,521,508	I161F	probably damaging	Het
Zcchc17	A	G	4: 130,349,315	M25T	probably benign	Het
Zfp563	G	A	17: 33,104,821	R130Q	probably benign	Het
Zhx2	A	G	15: 57,823,406	S724G	probably benign	Het

Other mutations in Bfsp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Bfsp1	APN	2	143831892	missense	probably damaging	1.00
IGL01457:Bfsp1	APN	2	143827644	splice site	probably benign
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
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
R7922:Bfsp1	UTSW	2	143831850	missense	possibly damaging	0.79
X0022:Bfsp1	UTSW	2	143858117	missense	probably damaging	1.00

Posted On

2015-04-16