Mutagenetix > Incidental Mutation

Incidental Mutation 'R2248:Bfsp1'

240933

Institutional Source

Beutler Lab

Gene Symbol

Bfsp1

Ensembl Gene

ENSMUSG00000027420

Gene Name

beaded filament structural protein 1, in lens-CP94

Synonyms

filensin

MMRRC Submission

040248-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R2248 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143826528-143863173 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 143827652 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096899 (fasta)

Gene Model

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

AlphaFold

A2AMT1

Predicted Effect

probably null
Transcript: ENSMUST00000028907

SMART Domains

Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420

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 null
Transcript: ENSMUST00000099296

SMART Domains

Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530077C05Rik	A	G	9: 22,444,114	T482A	probably benign	Het
Abca2	A	G	2: 25,433,464		probably benign	Het
Afp	A	G	5: 90,501,570	D332G	probably damaging	Het
AI593442	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	9: 52,677,814		probably benign	Het
Aldh1a2	A	T	9: 71,215,862	I6F	possibly damaging	Het
Alg6	C	T	4: 99,738,207	A84V	probably damaging	Het
Ank	T	A	15: 27,562,711		probably null	Het
Ano5	A	T	7: 51,593,789	M837L	probably benign	Het
Arl8b	A	G	6: 108,783,343	Y30C	probably benign	Het
Cdhr1	C	G	14: 37,081,377	V581L	probably benign	Het
Chst8	G	T	7: 34,748,172	T7K	probably damaging	Het
Clca3b	T	C	3: 144,825,219	K790R	probably benign	Het
Clta	A	G	4: 44,012,852	N21D	probably damaging	Het
Col6a4	T	G	9: 106,079,959	E222A	probably benign	Het
Dcc	G	T	18: 71,826,168	Q178K	probably benign	Het
Dpysl3	T	C	18: 43,358,293	D140G	possibly damaging	Het
Dthd1	A	T	5: 62,849,900	D648V	probably damaging	Het
Eva1c	A	G	16: 90,831,325	N18S	probably benign	Het
Flnc	A	G	6: 29,451,401	H1538R	probably damaging	Het
Foxn3	T	C	12: 99,196,556	E362G	probably benign	Het
Frk	C	A	10: 34,608,531	T500K	probably benign	Het
Glipr1l1	A	G	10: 112,062,287	E99G	probably benign	Het
Gm6169	C	A	13: 97,098,898	V114F	possibly damaging	Het
Gphn	T	C	12: 78,454,821	L120P	probably damaging	Het
Gpr152	T	C	19: 4,143,806	S449P	probably benign	Het
Greb1	T	A	12: 16,680,378	I1655F	possibly damaging	Het
Hectd1	G	T	12: 51,806,471	T89N	probably damaging	Het
Helz2	A	C	2: 181,233,433	I1756S	probably benign	Het
Hydin	G	T	8: 110,578,203	R3825L	probably benign	Het
Ifi207	G	A	1: 173,736,470		probably benign	Het
Itpr3	A	T	17: 27,115,059	E2035V	probably damaging	Het
Khnyn	T	A	14: 55,886,738	S150T	probably benign	Het
Kif21b	T	C	1: 136,172,966	I1595T	probably damaging	Het
Lgsn	A	T	1: 31,203,526	T230S	possibly damaging	Het
Limch1	G	T	5: 67,044,399	G838V	probably damaging	Het
Lrp2	T	A	2: 69,511,010	D942V	probably damaging	Het
Lrrc31	T	A	3: 30,689,901	T153S	possibly damaging	Het
Mal2	T	A	15: 54,588,336	I51N	probably damaging	Het
Mroh2a	T	C	1: 88,256,754	V1453A	probably benign	Het
Mycbp2	T	A	14: 103,169,859	Q385L	possibly damaging	Het
Nav3	T	A	10: 109,696,227	D2117V	probably damaging	Het
Ntn1	T	C	11: 68,277,572	N353S	possibly damaging	Het
Oas1c	T	C	5: 120,802,861	E289G	possibly damaging	Het
Olfr1141	T	C	2: 87,753,943	I17V	probably null	Het
Olfr1254	C	A	2: 89,789,180	M57I	possibly damaging	Het
Olfr165	A	G	16: 19,407,194	V274A	probably damaging	Het
Plk1	A	G	7: 122,168,821		probably benign	Het
Pms2	G	A	5: 143,916,506	V230M	probably damaging	Het
Pole3	C	A	4: 62,525,013		probably benign	Het
Ppp2r5c	T	C	12: 110,485,923	F22S	probably benign	Het
Ptcd3	A	T	6: 71,894,285		probably null	Het
Ptprq	A	T	10: 107,643,070		probably null	Het
Rab18	T	A	18: 6,788,629	C199S	probably damaging	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Sacs	A	G	14: 61,212,802	N4099S	probably damaging	Het
Sh3yl1	T	A	12: 30,942,870		probably null	Het
Slco1c1	T	A	6: 141,546,689	I217N	probably damaging	Het
Syne2	C	T	12: 76,096,904	T6241I	probably damaging	Het
Tas2r119	T	C	15: 32,178,151	F288L	possibly damaging	Het
Tmod2	G	T	9: 75,592,649	T107N	probably benign	Het
Trappc6b	T	C	12: 59,050,381	T52A	probably damaging	Het
Tsen54	A	G	11: 115,815,406	E122G	probably damaging	Het
Tspear	A	G	10: 77,873,269	N443S	probably damaging	Het
Unc80	A	G	1: 66,623,206		probably benign	Het
Virma	T	A	4: 11,518,927	Y725N	probably damaging	Het
Vwa7	G	A	17: 35,019,043	D207N	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
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
R7036:Bfsp1	UTSW	2	143826923	missense	possibly damaging	0.65
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'- GTGGGACTTACTCCATGTCCTC -3'
(R):5'- CAGTTTCTCAGGTGGTCGAG -3'

Sequencing Primer
(F):5'- CTGAGAGCCACCTTCTGC -3'
(R):5'- AGCTGGGACCTCACCATG -3'

Posted On

2014-10-15