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: 0.163) question?

Stock #

R2248 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143668448-143705093 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 143669572 bp (GRCm39)

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
Abca2	A	G	2: 25,323,476 (GRCm39)		probably benign	Het
Afp	A	G	5: 90,649,429 (GRCm39)	D332G	probably damaging	Het
AI593442	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	9: 52,589,114 (GRCm39)		probably benign	Het
Aldh1a2	A	T	9: 71,123,144 (GRCm39)	I6F	possibly damaging	Het
Alg6	C	T	4: 99,626,444 (GRCm39)	A84V	probably damaging	Het
Ank	T	A	15: 27,562,797 (GRCm39)		probably null	Het
Ano5	A	T	7: 51,243,537 (GRCm39)	M837L	probably benign	Het
Arl8b	A	G	6: 108,760,304 (GRCm39)	Y30C	probably benign	Het
Cdhr1	C	G	14: 36,803,334 (GRCm39)	V581L	probably benign	Het
Chst8	G	T	7: 34,447,597 (GRCm39)	T7K	probably damaging	Het
Clca3b	T	C	3: 144,530,980 (GRCm39)	K790R	probably benign	Het
Clta	A	G	4: 44,012,852 (GRCm39)	N21D	probably damaging	Het
Col6a4	T	G	9: 105,957,158 (GRCm39)	E222A	probably benign	Het
Dcc	G	T	18: 71,959,239 (GRCm39)	Q178K	probably benign	Het
Dpysl3	T	C	18: 43,491,358 (GRCm39)	D140G	possibly damaging	Het
Dthd1	A	T	5: 63,007,243 (GRCm39)	D648V	probably damaging	Het
Eva1c	A	G	16: 90,628,213 (GRCm39)	N18S	probably benign	Het
Flnc	A	G	6: 29,451,400 (GRCm39)	H1538R	probably damaging	Het
Foxn3	T	C	12: 99,162,815 (GRCm39)	E362G	probably benign	Het
Frk	C	A	10: 34,484,527 (GRCm39)	T500K	probably benign	Het
Glipr1l1	A	G	10: 111,898,192 (GRCm39)	E99G	probably benign	Het
Gphn	T	C	12: 78,501,595 (GRCm39)	L120P	probably damaging	Het
Gpr152	T	C	19: 4,193,805 (GRCm39)	S449P	probably benign	Het
Greb1	T	A	12: 16,730,379 (GRCm39)	I1655F	possibly damaging	Het
Hectd1	G	T	12: 51,853,254 (GRCm39)	T89N	probably damaging	Het
Helz2	A	C	2: 180,875,226 (GRCm39)	I1756S	probably benign	Het
Hydin	G	T	8: 111,304,835 (GRCm39)	R3825L	probably benign	Het
Ifi207	G	A	1: 173,564,036 (GRCm39)		probably benign	Het
Itpr3	A	T	17: 27,334,033 (GRCm39)	E2035V	probably damaging	Het
Khnyn	T	A	14: 56,124,195 (GRCm39)	S150T	probably benign	Het
Kif21b	T	C	1: 136,100,704 (GRCm39)	I1595T	probably damaging	Het
Lgsn	A	T	1: 31,242,607 (GRCm39)	T230S	possibly damaging	Het
Limch1	G	T	5: 67,201,742 (GRCm39)	G838V	probably damaging	Het
Lrp2	T	A	2: 69,341,354 (GRCm39)	D942V	probably damaging	Het
Lrrc31	T	A	3: 30,744,050 (GRCm39)	T153S	possibly damaging	Het
Mal2	T	A	15: 54,451,732 (GRCm39)	I51N	probably damaging	Het
Matcap2	A	G	9: 22,355,410 (GRCm39)	T482A	probably benign	Het
Mroh2a	T	C	1: 88,184,476 (GRCm39)	V1453A	probably benign	Het
Mycbp2	T	A	14: 103,407,295 (GRCm39)	Q385L	possibly damaging	Het
Nav3	T	A	10: 109,532,088 (GRCm39)	D2117V	probably damaging	Het
Ntn1	T	C	11: 68,168,398 (GRCm39)	N353S	possibly damaging	Het
Oas1c	T	C	5: 120,940,926 (GRCm39)	E289G	possibly damaging	Het
Or2m13	A	G	16: 19,225,944 (GRCm39)	V274A	probably damaging	Het
Or4a81	C	A	2: 89,619,524 (GRCm39)	M57I	possibly damaging	Het
Or5w17	T	C	2: 87,584,287 (GRCm39)	I17V	probably null	Het
Plk1	A	G	7: 121,768,044 (GRCm39)		probably benign	Het
Pms2	G	A	5: 143,853,324 (GRCm39)	V230M	probably damaging	Het
Pole3	C	A	4: 62,443,250 (GRCm39)		probably benign	Het
Ppp2r5c	T	C	12: 110,452,357 (GRCm39)	F22S	probably benign	Het
Prp2rt	C	A	13: 97,235,406 (GRCm39)	V114F	possibly damaging	Het
Ptcd3	A	T	6: 71,871,269 (GRCm39)		probably null	Het
Ptprq	A	T	10: 107,478,931 (GRCm39)		probably null	Het
Rab18	T	A	18: 6,788,629 (GRCm39)	C199S	probably damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Sacs	A	G	14: 61,450,251 (GRCm39)	N4099S	probably damaging	Het
Sh3yl1	T	A	12: 30,992,869 (GRCm39)		probably null	Het
Slco1c1	T	A	6: 141,492,415 (GRCm39)	I217N	probably damaging	Het
Syne2	C	T	12: 76,143,678 (GRCm39)	T6241I	probably damaging	Het
Tas2r119	T	C	15: 32,178,297 (GRCm39)	F288L	possibly damaging	Het
Tmod2	G	T	9: 75,499,931 (GRCm39)	T107N	probably benign	Het
Trappc6b	T	C	12: 59,097,167 (GRCm39)	T52A	probably damaging	Het
Tsen54	A	G	11: 115,706,232 (GRCm39)	E122G	probably damaging	Het
Tspear	A	G	10: 77,709,103 (GRCm39)	N443S	probably damaging	Het
Unc80	A	G	1: 66,662,365 (GRCm39)		probably benign	Het
Virma	T	A	4: 11,518,927 (GRCm39)	Y725N	probably damaging	Het
Vwa7	G	A	17: 35,238,019 (GRCm39)	D207N	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
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
R4918: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'- GTGGGACTTACTCCATGTCCTC -3'
(R):5'- CAGTTTCTCAGGTGGTCGAG -3'

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

Posted On

2014-10-15