Mutagenetix > Incidental Mutation

Incidental Mutation 'R4917:Bfsp1'

378261

Institutional Source

Beutler Lab

Gene Symbol

Bfsp1

Ensembl Gene

ENSMUSG00000027420

Gene Name

beaded filament structural protein 1, in lens-CP94

Synonyms

filensin

MMRRC Submission

042519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.215) question?

Stock #

R4917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143826528-143863173 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 143827471 bp (GRCm38)

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: 99.0%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (111/114)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	C	9: 103,251,855	Y235*	probably null	Het
Adgrv1	C	T	13: 81,510,877	V2783I	probably benign	Het
Ago4	A	C	4: 126,506,842	C693G	probably damaging	Het
Apobec2	T	C	17: 48,423,125	E171G	probably benign	Het
Arfgef3	T	A	10: 18,616,890	I1258F	probably damaging	Het
Arhgef40	A	G	14: 51,990,099	E434G	probably damaging	Het
Bcas1	T	C	2: 170,378,886	D324G	probably damaging	Het
Bdp1	A	T	13: 100,055,205	V1422E	probably damaging	Het
Bpifb9b	T	A	2: 154,314,106		probably null	Het
Cacna1s	T	A	1: 136,101,564		probably null	Het
Casp8	T	C	1: 58,827,218	F126S	probably damaging	Het
Cdh26	T	C	2: 178,449,821	S58P	probably benign	Het
Cds2	A	G	2: 132,298,478	T182A	probably damaging	Het
Cfap157	C	T	2: 32,779,953	R206H	probably benign	Het
Col7a1	G	A	9: 108,966,464	G1529E	unknown	Het
Crybg3	A	G	16: 59,530,419	F2567L	probably benign	Het
Cyp2e1	T	C	7: 140,774,614	S393P	possibly damaging	Het
D5Ertd579e	A	G	5: 36,615,816	Y412H	probably damaging	Het
Dclk2	A	T	3: 86,824,742		probably null	Het
Ddx50	A	T	10: 62,627,671	C414*	probably null	Het
Dip2c	T	A	13: 9,621,869		probably null	Het
Dmtn	G	T	14: 70,605,719	P283Q	probably damaging	Het
Dspp	C	A	5: 104,177,923	D717E	unknown	Het
Efcab11	T	C	12: 99,719,062	D151G	probably damaging	Het
Egfem1	T	C	3: 29,151,893	V93A	probably damaging	Het
Ehbp1	T	C	11: 22,146,592	D299G	probably benign	Het
Erlec1	A	G	11: 30,934,710	Y448H	possibly damaging	Het
Fer1l4	T	C	2: 156,031,300	K1287E	probably benign	Het
Fn1	A	T	1: 71,595,809		probably null	Het
Fut8	G	T	12: 77,475,044	A486S	probably damaging	Het
Gfra1	A	T	19: 58,267,090	S308R	probably damaging	Het
Gm10764	A	G	10: 87,290,717		noncoding transcript	Het
Gm5958	C	A	14: 99,835,753		noncoding transcript	Het
Gm6788	C	T	19: 28,763,264		noncoding transcript	Het
Gsdmd	A	G	15: 75,864,392	I123M	probably benign	Het
Hist1h2bl	A	T	13: 21,716,019	V42E	probably damaging	Het
Hsf4	A	G	8: 105,272,735	E235G	probably benign	Het
Ighv1-83	T	C	12: 115,963,960	I57V	probably benign	Het
Inpp5f	A	T	7: 128,685,116	D573V	probably damaging	Het
Kcnj1	T	A	9: 32,396,760	L160Q	probably damaging	Het
Kcnmb3	A	T	3: 32,472,504	C179*	probably null	Het
Lrig1	A	G	6: 94,609,719	F659L	probably damaging	Het
Lrrc3	T	C	10: 77,901,419	D61G	probably benign	Het
March4	T	G	1: 72,428,779	S365R	probably benign	Het
Mccc1	A	G	3: 35,997,554	L32S	probably benign	Het
Mei4	A	G	9: 81,890,163	T10A	probably benign	Het
Meis1	T	C	11: 19,009,222		probably benign	Het
Mllt1	T	C	17: 56,899,813	T344A	probably benign	Het
Mmp11	C	T	10: 75,925,585	A31T	probably damaging	Het
Mrps28	A	G	3: 8,882,554		probably benign	Het
Mthfsl	A	C	9: 88,715,497	L67V	probably damaging	Het
Ncaph2	A	G	15: 89,360,371	I11V	probably damaging	Het
Ncdn	G	A	4: 126,749,938	L364F	possibly damaging	Het
Nfat5	T	A	8: 107,324,652	D47E	probably damaging	Het
Olfr1350	C	T	7: 6,570,644	L218F	possibly damaging	Het
Olfr1459	T	A	19: 13,145,991	I223L	possibly damaging	Het
Olfr577	A	T	7: 102,973,407	I195N	possibly damaging	Het
Pcdhb3	A	T	18: 37,302,399	I473F	probably damaging	Het
Pcdhgb8	A	T	18: 37,764,138	N754Y	probably damaging	Het
Pgbd5	C	A	8: 124,370,566	K408N	probably benign	Het
Pnisr	A	G	4: 21,859,330		probably benign	Het
Poldip3	A	T	15: 83,132,575		probably null	Het
Ppfia2	G	C	10: 106,762,117	L180F	probably damaging	Het
Psmc3	A	G	2: 91,065,972		probably benign	Het
Rab3gap1	T	A	1: 127,889,177	W58R	possibly damaging	Het
Rere	T	A	4: 150,619,144	W1528R	probably damaging	Het
Rhot1	A	G	11: 80,209,201		probably benign	Het
Rsf1	T	C	7: 97,662,405	S781P	probably damaging	Het
Rtraf	T	C	14: 19,823,716	K5R	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Ryr2	A	G	13: 11,594,986	V753A	probably damaging	Het
Ryr3	T	C	2: 112,831,185	H1820R	probably damaging	Het
Schip1	A	T	3: 68,408,485		probably benign	Het
Scin	T	A	12: 40,069,374	I552F	possibly damaging	Het
Selp	A	C	1: 164,144,906	T705P	probably damaging	Het
Sh3rf3	A	T	10: 59,007,103	D297V	probably damaging	Het
Slc24a4	T	A	12: 102,264,944		probably null	Het
Slc2a9	C	A	5: 38,417,260	L224F	probably benign	Het
Slc35e2	C	A	4: 155,616,236	P272Q	probably damaging	Het
Slf2	T	G	19: 44,971,661	D1022E	probably damaging	Het
Syne1	C	T	10: 5,057,909	C7932Y	probably damaging	Het
Tc2n	A	G	12: 101,665,695	L301P	probably damaging	Het
Tchhl1	A	G	3: 93,470,316	D109G	possibly damaging	Het
Thoc7	T	C	14: 13,953,154	I83V	probably damaging	Het
Tm4sf1	C	T	3: 57,293,027	G85S	probably damaging	Het
Tmem63a	T	A	1: 180,966,521	I541N	probably benign	Het
Tmpo	A	G	10: 91,149,549	V357A	probably damaging	Het
Unc80	T	C	1: 66,646,550	Y2278H	possibly damaging	Het
Vmn1r26	A	G	6: 58,008,823	F127S	probably damaging	Het
Vmn2r8	A	T	5: 108,797,398	M781K	probably damaging	Het
Vps36	T	G	8: 22,218,264	M348R	possibly damaging	Het
Vps45	T	C	3: 96,019,631	T535A	probably damaging	Het

Other mutations in Bfsp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Bfsp1	APN	2	143,831,892 (GRCm38)	missense	probably damaging	1.00
IGL01457:Bfsp1	APN	2	143,827,644 (GRCm38)	splice site	probably benign
IGL02329:Bfsp1	APN	2	143,862,646 (GRCm38)	missense	probably benign
IGL02354:Bfsp1	APN	2	143,831,987 (GRCm38)	missense	probably damaging	1.00
IGL02361:Bfsp1	APN	2	143,831,987 (GRCm38)	missense	probably damaging	1.00
IGL02365:Bfsp1	APN	2	143,826,736 (GRCm38)	missense	probably damaging	1.00
IGL02407:Bfsp1	APN	2	143,826,933 (GRCm38)	missense	probably benign	0.00
IGL03118:Bfsp1	APN	2	143,827,333 (GRCm38)	missense	possibly damaging	0.94
I0000:Bfsp1	UTSW	2	143,845,968 (GRCm38)	missense	probably damaging	1.00
R0112:Bfsp1	UTSW	2	143,827,643 (GRCm38)	splice site	probably null
R0657:Bfsp1	UTSW	2	143,827,650 (GRCm38)	splice site	probably benign
R1642:Bfsp1	UTSW	2	143,841,763 (GRCm38)	missense	probably damaging	1.00
R1816:Bfsp1	UTSW	2	143,841,679 (GRCm38)	missense	probably benign	0.23
R2061:Bfsp1	UTSW	2	143,862,678 (GRCm38)	missense	probably benign	0.08
R2248:Bfsp1	UTSW	2	143,827,652 (GRCm38)	splice site	probably null
R3024:Bfsp1	UTSW	2	143,845,959 (GRCm38)	missense	probably benign	0.19
R4029:Bfsp1	UTSW	2	143,831,829 (GRCm38)	splice site	probably benign
R4914:Bfsp1	UTSW	2	143,827,471 (GRCm38)	missense	probably benign	0.21
R4915:Bfsp1	UTSW	2	143,827,471 (GRCm38)	missense	probably benign	0.21
R4918:Bfsp1	UTSW	2	143,827,471 (GRCm38)	missense	probably benign	0.21
R5018:Bfsp1	UTSW	2	143,862,882 (GRCm38)	missense	possibly damaging	0.81
R5202:Bfsp1	UTSW	2	143,826,971 (GRCm38)	missense	probably benign
R5267:Bfsp1	UTSW	2	143,827,051 (GRCm38)	missense	probably benign	0.03
R5304:Bfsp1	UTSW	2	143,827,291 (GRCm38)	missense	probably benign	0.34
R5825:Bfsp1	UTSW	2	143,827,459 (GRCm38)	missense	probably benign	0.01
R6465:Bfsp1	UTSW	2	143,858,055 (GRCm38)	critical splice donor site	probably null
R6888:Bfsp1	UTSW	2	143,826,719 (GRCm38)	missense	probably benign	0.31
R7036:Bfsp1	UTSW	2	143,826,923 (GRCm38)	missense	possibly damaging	0.65
R7075:Bfsp1	UTSW	2	143,848,965 (GRCm38)	missense	probably damaging	1.00
R7362:Bfsp1	UTSW	2	143,826,875 (GRCm38)	missense	probably benign	0.19
R7538:Bfsp1	UTSW	2	143,831,835 (GRCm38)	critical splice donor site	probably null
R7839:Bfsp1	UTSW	2	143,831,850 (GRCm38)	missense	possibly damaging	0.79
X0022:Bfsp1	UTSW	2	143,858,117 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2016-04-15