Mutagenetix > Incidental Mutation

Incidental Mutation 'R4914:Bfsp1'

379779

Institutional Source

Beutler Lab

Gene Symbol

Bfsp1

Ensembl Gene

ENSMUSG00000027420

Gene Name

beaded filament structural protein 1, in lens-CP94

Synonyms

filensin

MMRRC Submission

042516-MU

Accession Numbers

Essential gene?

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

Stock #

R4914 (G1)

Quality Score

225

Status

Not 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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430403G16Rik	A	G	5: 109,678,530 (GRCm38)	S59P	probably damaging	Het
Ace	G	A	11: 105,979,597 (GRCm38)	V281M	probably damaging	Het
Ap1b1	C	T	11: 5,024,400 (GRCm38)	T363I	possibly damaging	Het
Apobec2	T	C	17: 48,423,125 (GRCm38)	E171G	probably benign	Het
Arhgef1	T	A	7: 24,923,839 (GRCm38)	L436Q	probably damaging	Het
Atxn2	T	A	5: 121,749,096 (GRCm38)	D276E	probably damaging	Het
AU040320	A	T	4: 126,835,676 (GRCm38)	K544*	probably null	Het
Baz2b	T	A	2: 59,914,043 (GRCm38)	T1373S	possibly damaging	Het
Bcas1	T	C	2: 170,378,886 (GRCm38)	D324G	probably damaging	Het
Bdp1	A	G	13: 100,056,336 (GRCm38)	V1330A	probably benign	Het
Bpifb9b	T	A	2: 154,314,106 (GRCm38)		probably null	Het
Cabs1	T	C	5: 87,980,437 (GRCm38)	Y316H	probably damaging	Het
Carmil2	A	G	8: 105,693,543 (GRCm38)	K908E	possibly damaging	Het
Ccdc188	C	A	16: 18,218,219 (GRCm38)	P86Q	probably benign	Het
Cdh26	T	C	2: 178,449,821 (GRCm38)	S58P	probably benign	Het
Cybb	C	G	X: 9,450,750 (GRCm38)	D246H	probably benign	Het
Dclk2	A	T	3: 86,824,742 (GRCm38)		probably null	Het
Dennd5a	A	G	7: 109,901,089 (GRCm38)	F943S	probably damaging	Het
Disp2	A	T	2: 118,790,454 (GRCm38)	S556C	probably damaging	Het
Dpp4	A	T	2: 62,347,892 (GRCm38)	M632K	probably benign	Het
E030030I06Rik	G	A	10: 22,114,298 (GRCm38)	T192M	possibly damaging	Het
Ece2	C	T	16: 20,644,070 (GRCm38)	R582C	probably damaging	Het
Ehbp1	T	C	11: 22,146,592 (GRCm38)	D299G	probably benign	Het
Emc1	C	T	4: 139,375,165 (GRCm38)	R924*	probably null	Het
Etaa1	A	T	11: 17,946,532 (GRCm38)	S528R	probably benign	Het
Exoc2	A	T	13: 30,876,813 (GRCm38)	N569K	probably benign	Het
Fasn	T	G	11: 120,816,646 (GRCm38)	N799T	probably benign	Het
Fbxo3	T	G	2: 104,054,966 (GRCm38)	N388K	probably damaging	Het
Fbxw16	C	T	9: 109,438,177 (GRCm38)	V329I	probably benign	Het
Fer1l4	T	C	2: 156,031,300 (GRCm38)	K1287E	probably benign	Het
Fermt1	A	G	2: 132,906,840 (GRCm38)	V621A	probably damaging	Het
Fnbp4	A	G	2: 90,751,169 (GRCm38)	T189A	probably benign	Het
Fut8	G	T	12: 77,475,044 (GRCm38)	A486S	probably damaging	Het
G6pd2	T	A	5: 61,810,329 (GRCm38)	Y482*	probably null	Het
Gfra1	A	T	19: 58,267,090 (GRCm38)	S308R	probably damaging	Het
Glp2r	G	T	11: 67,757,593 (GRCm38)	Y94*	probably null	Het
Gper1	A	G	5: 139,426,868 (GRCm38)	I323V	probably benign	Het
Grm5	C	A	7: 88,130,129 (GRCm38)	R958S	probably benign	Het
H2-DMb2	A	G	17: 34,150,529 (GRCm38)	T85A	probably benign	Het
Hgsnat	A	G	8: 25,964,838 (GRCm38)	S220P	probably damaging	Het
Hspa12a	A	T	19: 58,799,452 (GRCm38)	M646K	probably damaging	Het
Inpp5f	A	T	7: 128,685,116 (GRCm38)	D573V	probably damaging	Het
Jmjd1c	A	G	10: 67,218,971 (GRCm38)	N344D	probably damaging	Het
Kif1c	A	G	11: 70,708,855 (GRCm38)	E471G	probably damaging	Het
Lalba	T	A	15: 98,482,180 (GRCm38)	N63I	probably benign	Het
Mcoln1	T	A	8: 3,507,483 (GRCm38)	L163*	probably null	Het
Mllt1	T	C	17: 56,899,813 (GRCm38)	T344A	probably benign	Het
Mpzl2	T	A	9: 45,043,848 (GRCm38)	D114E	probably benign	Het
Myef2	T	A	2: 125,109,739 (GRCm38)	K259*	probably null	Het
Myh8	C	A	11: 67,292,684 (GRCm38)	D740E	probably damaging	Het
Myo1b	A	T	1: 51,824,208 (GRCm38)		probably null	Het
Nfix	T	C	8: 84,771,829 (GRCm38)	I172V	probably benign	Het
Olfr1369-ps1	A	T	13: 21,116,397 (GRCm38)	Q235L	probably benign	Het
Olfr1459	T	A	19: 13,145,991 (GRCm38)	I223L	possibly damaging	Het
Olfr362	A	T	2: 37,105,158 (GRCm38)	I164N	possibly damaging	Het
Olfr401	A	T	11: 74,121,879 (GRCm38)	I197F	probably benign	Het
Olfr90	T	C	17: 37,085,991 (GRCm38)	Y58C	probably damaging	Het
Orc1	T	C	4: 108,604,558 (GRCm38)	F584S	probably damaging	Het
Osgin1	C	A	8: 119,442,544 (GRCm38)	A60D	possibly damaging	Het
Pde4dip	C	A	3: 97,715,328 (GRCm38)	V1522L	probably benign	Het
Phactr1	A	G	13: 43,133,963 (GRCm38)	T556A	possibly damaging	Het
Ppfia2	G	C	10: 106,762,117 (GRCm38)	L180F	probably damaging	Het
Ppm1k	T	A	6: 57,510,777 (GRCm38)	N354Y	probably damaging	Het
Ppp1r1a	A	G	15: 103,537,838 (GRCm38)	V14A	probably damaging	Het
Prkcd	A	T	14: 30,605,438 (GRCm38)		probably null	Het
Ranbp17	T	C	11: 33,213,425 (GRCm38)	S1082G	probably benign	Het
Rere	T	A	4: 150,619,144 (GRCm38)	W1528R	probably damaging	Het
Rnf103	T	A	6: 71,510,264 (GRCm38)	F626L	possibly damaging	Het
Rsrc2	A	G	5: 123,739,550 (GRCm38)		probably benign	Het
Scin	T	A	12: 40,069,374 (GRCm38)	I552F	possibly damaging	Het
Scn3a	T	C	2: 65,461,455 (GRCm38)	N1649S	probably damaging	Het
Slain2	T	A	5: 72,958,266 (GRCm38)	M448K	probably benign	Het
Slc25a54	T	C	3: 109,111,079 (GRCm38)	F292L	probably benign	Het
Slc4a1	A	G	11: 102,352,453 (GRCm38)	V784A	probably damaging	Het
Slco1b2	G	A	6: 141,669,370 (GRCm38)	V334I	probably benign	Het
Slf2	T	G	19: 44,971,661 (GRCm38)	D1022E	probably damaging	Het
Smg8	T	C	11: 87,080,710 (GRCm38)	E745G	probably damaging	Het
Smyd1	T	G	6: 71,219,337 (GRCm38)	I322L	probably benign	Het
Snx13	G	A	12: 35,132,033 (GRCm38)	V694I	possibly damaging	Het
Sox6	T	C	7: 115,476,964 (GRCm38)	D814G	probably damaging	Het
Spag6	A	T	2: 18,745,549 (GRCm38)	I469F	probably benign	Het
Spsb2	A	C	6: 124,809,748 (GRCm38)	E148A	probably benign	Het
Srprb	C	A	9: 103,201,948 (GRCm38)	V747L	possibly damaging	Het
Stam	A	G	2: 14,102,416 (GRCm38)	E16G	probably damaging	Het
Taar5	A	T	10: 23,971,570 (GRCm38)	I289F	possibly damaging	Het
Tgif1	C	T	17: 70,845,247 (GRCm38)	R70H	probably damaging	Het
Tmem2	G	A	19: 21,809,289 (GRCm38)	V472I	probably benign	Het
Top2a	A	T	11: 99,002,960 (GRCm38)	L1036H	probably damaging	Het
Tph1	T	A	7: 46,653,859 (GRCm38)	I232F	probably damaging	Het
Ttn	T	C	2: 76,746,831 (GRCm38)	T24573A	probably damaging	Het
Tub	C	T	7: 109,020,954 (GRCm38)	R102*	probably null	Het
Ube2n	T	A	10: 95,541,745 (GRCm38)	W129R	possibly damaging	Het
Usp8	A	T	2: 126,720,140 (GRCm38)	K85*	probably null	Het
Vmn2r81	A	T	10: 79,270,523 (GRCm38)	K445M	probably null	Het
Vps45	T	C	3: 96,019,631 (GRCm38)	T535A	probably damaging	Het
Wdr63	A	G	3: 146,066,827 (GRCm38)	I488T	probably damaging	Het
Zfp157	T	C	5: 138,456,295 (GRCm38)	S252P	possibly damaging	Het
Zfp605	T	A	5: 110,127,701 (GRCm38)	C228*	probably null	Het
Zfp791	T	A	8: 85,110,951 (GRCm38)	I95L	probably benign	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
R4915:Bfsp1	UTSW	2	143,827,471 (GRCm38)	missense	probably benign	0.21
R4917: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'- TGTGACGAGTACATGCCGTC -3'
(R):5'- GTGTTTTCCATTAGATCTTGCCAG -3'

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

Posted On

2016-04-15