Mutagenetix > Incidental Mutations

Incidental Mutation 'R7036:Bfsp1'

546663

Institutional Source

Beutler Lab

Gene Symbol

Bfsp1

Ensembl Gene

ENSMUSG00000027420

Gene Name

beaded filament structural protein 1, in lens-CP94

Synonyms

filensin

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.200) question?

Stock #

R7036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143826528-143863173 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143826923 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 579 (T579S)

Ref Sequence

ENSEMBL: ENSMUSP00000028907 (fasta)

Gene Model

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

AlphaFold

A2AMT1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028907
AA Change: T579S

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: T579S

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

possibly damaging
Transcript: ENSMUST00000099296
AA Change: T585S

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: T585S

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,609,256		probably null	Het
9030624J02Rik	T	C	7: 118,773,092	S290P	probably damaging	Het
9130011E15Rik	A	G	19: 45,965,249	I195T	probably damaging	Het
Ahnak2	A	G	12: 112,778,781		probably benign	Het
Akt2	T	C	7: 27,637,012		probably null	Het
Aldh1a7	A	T	19: 20,708,178	L336Q	possibly damaging	Het
Ank2	T	C	3: 126,946,392		probably benign	Het
Ank3	C	T	10: 69,999,379	T680M	probably damaging	Het
Apeh	T	C	9: 108,094,271	E59G	possibly damaging	Het
Arl8a	G	C	1: 135,154,468	E145Q	probably benign	Het
Armc8	C	T	9: 99,483,965		probably null	Het
Arsj	T	C	3: 126,365,000	L76P	probably damaging	Het
Atp2b1	C	T	10: 98,987,310	T244I	probably damaging	Het
Bcl6	A	T	16: 23,974,861	L112Q	probably damaging	Het
Btaf1	C	A	19: 37,004,469	T1633K	probably benign	Het
Cacng8	A	G	7: 3,415,303	S324G	probably benign	Het
Cd2ap	A	T	17: 42,798,599	L623Q	probably damaging	Het
Cerkl	T	C	2: 79,341,378	I379V	probably benign	Het
Cndp2	T	A	18: 84,669,945	H307L	possibly damaging	Het
Derl1	A	G	15: 57,879,047		probably null	Het
Dixdc1	T	A	9: 50,682,564	R254S	probably benign	Het
Dopey2	T	A	16: 93,777,490	D30E	probably benign	Het
Duox2	T	G	2: 122,280,453	H1513P	probably damaging	Het
Dyrk1a	G	A	16: 94,686,568	V546I	probably benign	Het
E130308A19Rik	A	C	4: 59,719,991	K508Q	probably damaging	Het
Emc8	A	T	8: 120,659,051	V108E	probably benign	Het
Epb41l1	A	G	2: 156,529,402	T720A	probably benign	Het
Fam126b	T	A	1: 58,535,537	M282L	probably benign	Het
Fam71b	G	A	11: 46,407,408	S513N		Het
Fcgr4	T	A	1: 171,020,088	M85K	probably benign	Het
Fem1b	T	A	9: 62,797,028	I317F	probably damaging	Het
Focad	A	G	4: 88,124,637	E36G	probably benign	Het
Fryl	C	T	5: 73,055,608	E2275K	probably benign	Het
Galnt11	T	C	5: 25,258,813	I361T	probably damaging	Het
Gatad2a	A	T	8: 69,917,994	N114K	probably damaging	Het
Gcnt2	CTAATG	C	13: 40,887,556		probably null	Het
Gm884	T	A	11: 103,615,812		probably benign	Het
Gramd1a	A	G	7: 31,132,756		probably null	Het
Gsn	T	A	2: 35,292,599	W187R	probably damaging	Het
Hoxc12	G	A	15: 102,938,360	G229D	probably damaging	Het
Ints14	T	C	9: 64,964,545	V55A	probably benign	Het
Itga9	T	C	9: 118,698,365	L528P	probably benign	Het
Klf1	C	T	8: 84,902,750	S68F	possibly damaging	Het
Kmt2e	A	G	5: 23,478,743	E333G	probably null	Het
Krt39	A	C	11: 99,521,236	V8G	probably benign	Het
Krt71	A	G	15: 101,738,337	I312T	probably benign	Het
Lrp1b	T	C	2: 41,112,342	D2001G	possibly damaging	Het
Lrrc71	T	C	3: 87,748,386	T27A	probably benign	Het
Lrrcc1	T	C	3: 14,563,009	V958A	possibly damaging	Het
Med15	A	T	16: 17,698,155	M1K	probably null	Het
Mrgpra3	G	T	7: 47,590,090	N29K	possibly damaging	Het
Myl1	T	C	1: 66,930,236	N79S	probably damaging	Het
Naip2	A	T	13: 100,155,021	D1136E	probably benign	Het
Nat10	T	C	2: 103,754,108	N108S	probably benign	Het
Ncald	A	T	15: 37,368,878	S178T	probably benign	Het
Ndufs2	T	C	1: 171,238,308	D256G	probably benign	Het
Nek5	T	C	8: 22,107,723	N280S	probably benign	Het
Olfr1167	T	A	2: 88,149,125	D298V	probably damaging	Het
Olfr995	A	G	2: 85,438,430	S243P	probably damaging	Het
Parp1	G	T	1: 180,598,252	K849N	possibly damaging	Het
Pcdhb4	T	A	18: 37,308,782	C382S	possibly damaging	Het
Plce1	A	G	19: 38,739,357	N1520S	probably damaging	Het
Plcg2	G	A	8: 117,596,306	R700H	probably benign	Het
Popdc2	A	T	16: 38,362,811	Y52F	probably damaging	Het
Prrx1	T	A	1: 163,248,338	M220L	probably benign	Het
Pspc1	A	C	14: 56,758,628		probably null	Het
Ptchd1	T	A	X: 155,574,712	Y499F	probably damaging	Het
Ptpn20	A	G	14: 33,614,435	*44W	probably null	Het
Qars	T	A	9: 108,514,777	V83E	probably damaging	Het
Rrh	T	C	3: 129,815,693	E55G	possibly damaging	Het
Sash1	C	A	10: 8,730,083	E848*	probably null	Het
Sds	A	T	5: 120,480,847	K125M	possibly damaging	Het
Serpinf2	A	T	11: 75,438,418		probably benign	Het
Sh2b2	G	A	5: 136,218,885	T604I	probably benign	Het
Smug1	A	G	15: 103,155,942	L184P	probably damaging	Het
Spatc1	A	G	15: 76,283,880	T180A	probably benign	Het
Ssr1	A	T	13: 37,994,025	L20Q	probably null	Het
Supt4a	A	G	11: 87,743,258	E100G	probably damaging	Het
Tbx1	G	T	16: 18,586,801	P38T	unknown	Het
Tcl1	T	C	12: 105,217,601		probably benign	Het
Teddm2	T	C	1: 153,850,574	I132V	probably benign	Het
Tmem131	C	T	1: 36,792,973	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,423,607	H1186L	probably benign	Het
Trim34b	A	T	7: 104,329,536		probably benign	Het
Trpm2	T	C	10: 77,912,592	M1415V	probably benign	Het
Ttll12	A	G	15: 83,586,885	F264S	probably benign	Het
Vmn2r59	T	C	7: 42,046,220	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,326,410	H848L	probably benign	Het
Wdr70	T	C	15: 7,884,374	D598G	possibly damaging	Het
Ybey	T	C	10: 76,468,363	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,132,387	Q308L	probably benign	Het
Zfp872	C	T	9: 22,200,560	P445L	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACGGAAGTCTCTTCATATGTCTG -3'
(R):5'- CTATGCATCATGACGGCCAC -3'

Sequencing Primer
(F):5'- GGAAGTCTCTTCATATGTCTGAATAC -3'
(R):5'- TAGAGCCCTCTCCTGGACAG -3'

Posted On

2019-05-13