Mutagenetix > Incidental Mutation

Incidental Mutation 'R4918:Bfsp1'

378377

Institutional Source

Beutler Lab

Gene Symbol

Bfsp1

Ensembl Gene

ENSMUSG00000027420

Gene Name

beaded filament structural protein 1, in lens-CP94

Synonyms

filensin

MMRRC Submission

042520-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R4918 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143668448-143705093 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 143669391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 396 (R396Q)

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: R396Q

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: R396Q

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: R402Q

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: R402Q

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

99% (116/117)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,071,377 (GRCm39)	I1492F	probably damaging	Het
Ago4	A	C	4: 126,400,635 (GRCm39)	C693G	probably damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Arfgef3	T	A	10: 18,492,638 (GRCm39)	I1258F	probably damaging	Het
Arhgef40	A	G	14: 52,227,556 (GRCm39)	E434G	probably damaging	Het
Baz2b	T	A	2: 59,744,387 (GRCm39)	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bdp1	A	T	13: 100,191,713 (GRCm39)	V1422E	probably damaging	Het
Bnip1	C	T	17: 27,002,525 (GRCm39)		probably benign	Het
Bnip5	T	G	17: 29,127,337 (GRCm39)	Q224P	probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Casp8	T	C	1: 58,866,377 (GRCm39)	F126S	probably damaging	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cntnap2	T	C	6: 46,506,969 (GRCm39)		probably benign	Het
Col9a1	T	C	1: 24,276,339 (GRCm39)	I749T	possibly damaging	Het
Ddx50	A	T	10: 62,463,450 (GRCm39)	C414*	probably null	Het
Defb42	A	G	14: 63,285,790 (GRCm39)	I57V	probably benign	Het
Dennd5a	A	G	7: 109,500,296 (GRCm39)	F943S	probably damaging	Het
Dhx40	G	T	11: 86,695,217 (GRCm39)	H98N	possibly damaging	Het
Disp2	A	T	2: 118,620,935 (GRCm39)	S556C	probably damaging	Het
Dpysl5	T	G	5: 30,949,612 (GRCm39)	F461V	probably damaging	Het
Efcab11	T	C	12: 99,685,321 (GRCm39)	D151G	probably damaging	Het
Egfem1	T	C	3: 29,206,042 (GRCm39)	V93A	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Esyt2	T	C	12: 116,287,760 (GRCm39)	V226A	probably benign	Het
Fan1	A	T	7: 64,023,286 (GRCm39)		probably benign	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxo3	T	G	2: 103,885,311 (GRCm39)	N388K	probably damaging	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Fsip2	G	A	2: 82,824,114 (GRCm39)	V6616I	possibly damaging	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gm10764	A	G	10: 87,126,579 (GRCm39)		noncoding transcript	Het
Gm6788	C	T	19: 28,740,664 (GRCm39)		noncoding transcript	Het
Gm8122	T	C	14: 43,091,573 (GRCm39)	N65S	unknown	Het
Golga4	C	A	9: 118,387,213 (GRCm39)	S1445Y	probably damaging	Het
Gsdmd	A	G	15: 75,736,241 (GRCm39)	I123M	probably benign	Het
Hsf4	A	G	8: 105,999,367 (GRCm39)	E235G	probably benign	Het
Ifi206	T	A	1: 173,309,610 (GRCm39)	T129S	possibly damaging	Het
Jakmip1	G	A	5: 37,248,619 (GRCm39)	R93Q	probably damaging	Het
Kcnj1	T	A	9: 32,308,056 (GRCm39)	L160Q	probably damaging	Het
Kif1a	T	A	1: 93,002,700 (GRCm39)	E233V	probably benign	Het
Krt5	A	T	15: 101,618,742 (GRCm39)	Y340N	probably damaging	Het
Krt90	T	A	15: 101,470,914 (GRCm39)	H116L	possibly damaging	Het
Large2	A	G	2: 92,196,452 (GRCm39)		probably benign	Het
Marchf4	T	G	1: 72,467,938 (GRCm39)	S365R	probably benign	Het
Mei4	A	G	9: 81,772,216 (GRCm39)	T10A	probably benign	Het
Meis1	T	C	11: 18,959,222 (GRCm39)		probably benign	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mrps28	A	G	3: 8,947,614 (GRCm39)		probably benign	Het
Ncdn	G	A	4: 126,643,731 (GRCm39)	L364F	possibly damaging	Het
Nckap1l	A	G	15: 103,392,040 (GRCm39)	N825S	probably benign	Het
Nfat5	T	A	8: 108,051,284 (GRCm39)	D47E	probably damaging	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Nsf	G	A	11: 103,801,185 (GRCm39)		probably benign	Het
Or1b1	A	T	2: 36,995,170 (GRCm39)	I164N	possibly damaging	Het
Or1n1b	A	G	2: 36,780,344 (GRCm39)	I172T	probably damaging	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or51g2	A	T	7: 102,622,614 (GRCm39)	I195N	possibly damaging	Het
Or5ak20	C	T	2: 85,183,632 (GRCm39)	V213I	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Or5bw2	C	T	7: 6,573,643 (GRCm39)	L218F	possibly damaging	Het
Or9g10	T	C	2: 85,584,465 (GRCm39)		probably benign	Het
Pcdh20	A	C	14: 88,705,104 (GRCm39)	L732R	probably damaging	Het
Pgbd5	C	A	8: 125,097,305 (GRCm39)	K408N	probably benign	Het
Pip4k2c	T	C	10: 127,035,196 (GRCm39)	T391A	possibly damaging	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Prpf18	T	C	2: 4,641,981 (GRCm39)	D186G	probably benign	Het
Rab3gap1	T	A	1: 127,816,914 (GRCm39)	W58R	possibly damaging	Het
Rbp3	T	C	14: 33,677,368 (GRCm39)	Y439H	probably damaging	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Rsf1	T	C	7: 97,311,612 (GRCm39)	S781P	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr2	A	G	13: 11,609,872 (GRCm39)	V753A	probably damaging	Het
Schip1	A	T	3: 68,315,818 (GRCm39)		probably benign	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,291,799 (GRCm39)	N1649S	probably damaging	Het
Sh3rf3	A	T	10: 58,842,925 (GRCm39)	D297V	probably damaging	Het
Slc20a2	C	T	8: 23,051,020 (GRCm39)	S351L	probably damaging	Het
Slc35e2	C	A	4: 155,700,693 (GRCm39)	P272Q	probably damaging	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,615,096 (GRCm39)	V334I	probably benign	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Spag6	A	T	2: 18,750,360 (GRCm39)	I469F	probably benign	Het
Spsb2	A	C	6: 124,786,711 (GRCm39)	E148A	probably benign	Het
Sulf1	A	G	1: 12,888,720 (GRCm39)	D335G	probably damaging	Het
Tchhl1	A	G	3: 93,377,623 (GRCm39)	D109G	possibly damaging	Het
Thoc7	T	C	14: 13,953,154 (GRCm38)	I83V	probably damaging	Het
Thsd7a	A	C	6: 12,327,558 (GRCm39)	I1438S	probably damaging	Het
Tm4sf1	C	T	3: 57,200,448 (GRCm39)	G85S	probably damaging	Het
Tmem63a	T	A	1: 180,794,086 (GRCm39)	I541N	probably benign	Het
Trav6d-4	T	C	14: 52,991,240 (GRCm39)	F95S	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttn	T	C	2: 76,589,598 (GRCm39)	T21219A	probably damaging	Het
Unc80	T	C	1: 66,685,709 (GRCm39)	Y2278H	possibly damaging	Het
Usp8	A	T	2: 126,562,060 (GRCm39)	K85*	probably null	Het
Vmn2r69	T	A	7: 85,055,967 (GRCm39)	M724L	probably benign	Het
Zeb2	A	G	2: 44,886,894 (GRCm39)	I706T	probably damaging	Het
Zfp512	T	C	5: 31,634,209 (GRCm39)	S407P	probably damaging	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCCCCTGTGACGAGTACATG -3'
(R):5'- TTTTCCATTAGATCTTGCCAGGG -3'

Sequencing Primer
(F):5'- ACATGCCGTCCTTTGGTGAAAAG -3'
(R):5'- GCCGTGCAGGATATTACAGC -3'

Posted On

2016-04-15