Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

IGL02407

Quality Score

Status

Chromosome

Chromosomal Location

143668448-143705093 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 143668853 bp (GRCm39)

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]

AlphaFold

A2AMT1

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
A2m	G	A	6: 121,645,575 (GRCm39)	W1040*	probably null	Het
Adgrv1	C	A	13: 81,627,789 (GRCm39)	A3691S	probably damaging	Het
Als2cl	T	A	9: 110,718,295 (GRCm39)	Y345*	probably null	Het
Aplp2	A	T	9: 31,069,823 (GRCm39)	Y496*	probably null	Het
Ash1l	T	C	3: 88,979,855 (GRCm39)	V2793A	probably damaging	Het
Ceacam20	G	T	7: 19,704,332 (GRCm39)	V128F	probably benign	Het
Cers4	A	T	8: 4,570,306 (GRCm39)	K204*	probably null	Het
Cog1	T	C	11: 113,544,852 (GRCm39)	Y345H	probably benign	Het
Col14a1	T	C	15: 55,312,272 (GRCm39)		probably benign	Het
Col19a1	A	T	1: 24,351,453 (GRCm39)		probably null	Het
Ctnnd2	T	A	15: 30,966,914 (GRCm39)	M955K	probably damaging	Het
Cyp3a16	A	T	5: 145,388,652 (GRCm39)	M275K	probably damaging	Het
Degs2	T	G	12: 108,658,254 (GRCm39)	T242P	probably damaging	Het
Elac2	T	C	11: 64,890,001 (GRCm39)	V612A	probably benign	Het
Elovl6	T	A	3: 129,398,733 (GRCm39)	F45I	probably damaging	Het
Exoc1	A	C	5: 76,693,193 (GRCm39)	N360H	probably damaging	Het
Fam221b	A	T	4: 43,666,309 (GRCm39)	S101T	possibly damaging	Het
Garre1	A	T	7: 33,955,909 (GRCm39)	N393K	probably damaging	Het
Glyr1	A	G	16: 4,854,812 (GRCm39)	F89L	probably benign	Het
Herc4	C	A	10: 63,142,203 (GRCm39)	T668K	probably damaging	Het
Hibadh	C	T	6: 52,525,874 (GRCm39)	V259I	possibly damaging	Het
Hp1bp3	T	A	4: 137,967,983 (GRCm39)	D397E	probably damaging	Het
Ift80	G	T	3: 68,805,869 (GRCm39)	D724E	probably benign	Het
Igkv3-10	T	C	6: 70,550,223 (GRCm39)		probably benign	Het
Irf9	G	T	14: 55,842,678 (GRCm39)	A75S	possibly damaging	Het
Kif13a	C	T	13: 46,938,769 (GRCm39)	V76M	probably damaging	Het
Krt4	T	C	15: 101,829,740 (GRCm39)	I263V	probably benign	Het
Lgals8	A	G	13: 12,469,699 (GRCm39)	W87R	probably benign	Het
Mccc2	G	A	13: 100,127,816 (GRCm39)	P96L	probably damaging	Het
Megf11	A	C	9: 64,587,531 (GRCm39)	D443A	probably damaging	Het
Nckap5l	T	C	15: 99,321,008 (GRCm39)		probably benign	Het
Ndor1	A	G	2: 25,139,281 (GRCm39)	V230A	probably benign	Het
Nif3l1	G	T	1: 58,496,956 (GRCm39)	V294L	possibly damaging	Het
Or4k39	T	A	2: 111,238,923 (GRCm39)		noncoding transcript	Het
Pcdhb13	T	A	18: 37,576,128 (GRCm39)	Y169N	probably damaging	Het
Peg3	A	G	7: 6,710,635 (GRCm39)	I1529T	probably damaging	Het
Piezo2	T	A	18: 63,279,915 (GRCm39)	I219F	probably damaging	Het
Prpf38a	G	A	4: 108,424,836 (GRCm39)	R242W	unknown	Het
Prrc2a	A	T	17: 35,379,480 (GRCm39)	D255E	unknown	Het
Rapgef6	G	T	11: 54,567,181 (GRCm39)	D1121Y	possibly damaging	Het
Ryr3	T	A	2: 112,585,303 (GRCm39)	H2761L	probably damaging	Het
Sel1l	A	T	12: 91,810,042 (GRCm39)		probably benign	Het
Slc30a9	A	G	5: 67,510,065 (GRCm39)	D539G	probably damaging	Het
Slc38a9	A	G	13: 112,826,777 (GRCm39)	S172G	probably benign	Het
Slfn2	C	A	11: 82,960,402 (GRCm39)	T127K	probably benign	Het
Smurf1	A	T	5: 144,821,534 (GRCm39)	M496K	probably damaging	Het
Srgap2	A	T	1: 131,247,340 (GRCm39)	V564D	probably damaging	Het
Stk32a	T	C	18: 43,430,576 (GRCm39)	I162T	probably benign	Het
Tchhl1	A	T	3: 93,378,634 (GRCm39)	N446I	possibly damaging	Het
Tmem64	T	A	4: 15,266,584 (GRCm39)	H211Q	probably damaging	Het
Trim3	T	C	7: 105,262,218 (GRCm39)	N586S	probably benign	Het
Trpm1	A	G	7: 63,868,869 (GRCm39)	E507G	probably damaging	Het
Tyk2	G	T	9: 21,020,523 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,365,316 (GRCm39)	K310*	probably null	Het
Unc13a	T	A	8: 72,101,586 (GRCm39)	N1022Y	probably damaging	Het
Vmn1r172	A	T	7: 23,359,228 (GRCm39)	N38Y	probably damaging	Het
Vmn2r100	A	T	17: 19,741,770 (GRCm39)	I161F	probably damaging	Het
Zcchc17	A	G	4: 130,243,108 (GRCm39)	M25T	probably benign	Het
Zfp563	G	A	17: 33,323,795 (GRCm39)	R130Q	probably benign	Het
Zhx2	A	G	15: 57,686,802 (GRCm39)	S724G	probably benign	Het

Other mutations in Bfsp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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