Mutagenetix > Incidental Mutations

Incidental Mutation 'R7538:Bfsp1'

583691

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: 0.186) question?

Stock #

R7538 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143826528-143863173 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 143831835 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	C	A	9: 30,953,470	P419H	probably damaging	Het
Adgra3	C	T	5: 49,961,450	V919I	probably benign	Het
Akap12	G	A	10: 4,353,213	V113I	probably damaging	Het
Akr1d1	T	A	6: 37,536,108	I113K	probably benign	Het
Alx3	A	T	3: 107,604,364	I230F	probably damaging	Het
Apob	A	T	12: 8,002,219	D1220V	probably damaging	Het
Ascc3	T	C	10: 50,845,700	L2083P	probably damaging	Het
Atp10b	A	G	11: 43,225,546	I907V	probably benign	Het
B4galnt3	G	T	6: 120,294,423	S46*	probably null	Het
Cant1	G	A	11: 118,411,465	R9W	possibly damaging	Het
Ccdc88a	A	T	11: 29,463,370	H636L	probably benign	Het
Cfi	G	A	3: 129,858,815	R297H	probably benign	Het
Cherp	T	A	8: 72,462,419	Q749L		Het
Clec10a	A	G	11: 70,169,778	D153G	probably benign	Het
Cnga1	T	C	5: 72,612,380	K99E	probably benign	Het
Cyp2r1	A	T	7: 114,562,767	V64D	probably damaging	Het
Dact3	T	A	7: 16,875,518	W32R	probably damaging	Het
Dennd4c	T	C	4: 86,774,516	C88R	probably damaging	Het
Dock8	A	T	19: 25,158,418	D1200V	probably damaging	Het
Drosha	C	G	15: 12,926,243	S1262W	probably damaging	Het
Dtnb	T	C	12: 3,773,611	M592T	possibly damaging	Het
Eef2k	T	A	7: 120,891,992	V567E	probably benign	Het
Fem1b	A	G	9: 62,811,167	S47P	probably damaging	Het
Fryl	T	C	5: 73,022,676	E2864G	probably benign	Het
Fscn2	A	G	11: 120,367,326	N358S	possibly damaging	Het
Fsip2	T	C	2: 82,988,550	S4876P	possibly damaging	Het
Ggh	C	G	4: 20,049,833	S88C	probably damaging	Het
Grhl2	T	C	15: 37,328,359	Y410H	probably damaging	Het
Gucy2c	C	T	6: 136,709,744	G831D	probably damaging	Het
Hars	A	T	18: 36,771,141	D228E	probably benign	Het
Hdhd5	T	C	6: 120,521,296	D114G	possibly damaging	Het
Kcna2	A	G	3: 107,104,568	Y155C	probably benign	Het
Klc1	A	G	12: 111,785,445	K441R	probably benign	Het
Kmt2a	A	G	9: 44,847,744	L936P	probably damaging	Het
Map3k6	T	C	4: 133,251,927	V1197A	probably benign	Het
Mthfsd	C	T	8: 121,098,786	A349T	probably benign	Het
Mtmr7	G	A	8: 40,597,384	R123W	probably damaging	Het
Muc16	G	A	9: 18,655,451	T1924I	unknown	Het
Muc16	T	A	9: 18,642,131	I4289F	probably benign	Het
Mybpc3	A	C	2: 91,120,487	D220A	probably damaging	Het
Neb	A	T	2: 52,256,575		probably null	Het
Nectin2	A	G	7: 19,730,619	W287R	probably damaging	Het
Nipsnap1	A	T	11: 4,884,089	T114S	probably damaging	Het
Nol9	T	C	4: 152,039,658	S102P	probably benign	Het
Olfml2b	A	T	1: 170,649,833	K179I	possibly damaging	Het
Olfr1253	G	T	2: 89,752,321	P169H	probably damaging	Het
Pcnt	T	C	10: 76,399,939	M1403V	probably benign	Het
Phf7	T	C	14: 31,238,429	D284G	probably benign	Het
Pias3	A	G	3: 96,702,218	T319A	possibly damaging	Het
Pik3ip1	A	T	11: 3,333,558	I189F	probably damaging	Het
Pik3r1	T	A	13: 101,689,406	T371S	probably damaging	Het
Prmt7	A	G	8: 106,237,386	D304G	probably benign	Het
Prpf6	T	C	2: 181,652,455	V818A	probably benign	Het
Pstpip2	A	G	18: 77,871,605	E185G	probably damaging	Het
Ptprz1	T	G	6: 22,999,896	F662V	possibly damaging	Het
Rasgrp3	T	C	17: 75,496,416	F70L	probably benign	Het
Rcor1	A	T	12: 111,067,837		probably null	Het
Rnasel	A	G	1: 153,754,560	K274R	probably benign	Het
Rsbn1l	G	A	5: 20,896,457	T695I	probably benign	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,579,906		probably benign	Het
Sema3a	T	C	5: 13,561,820	V351A	probably benign	Het
Serpina12	A	G	12: 104,038,328	L15P	unknown	Het
Siah1a	G	A	8: 86,725,212	R215C	probably benign	Het
Sin3a	T	A	9: 57,103,926	V489D	possibly damaging	Het
Slc22a17	A	G	14: 54,912,118	I208T	probably benign	Het
Slc36a4	G	A	9: 15,734,215	V313M	possibly damaging	Het
Sod1	T	A	16: 90,226,226	L145*	probably null	Het
Svep1	T	C	4: 58,053,260	N3362D	possibly damaging	Het
Taf4b	T	C	18: 14,813,545	L475P	probably damaging	Het
Telo2	G	T	17: 25,110,821	T239K	probably benign	Het
Trmt11	T	G	10: 30,560,874	D290A	probably damaging	Het
Trpc4	A	T	3: 54,318,095	D955V	possibly damaging	Het
Trpv6	T	C	6: 41,626,167	N257S	probably benign	Het
Usp12	T	C	5: 146,794,620	T15A	probably benign	Het
Vars2	G	T	17: 35,660,780	Q526K	probably damaging	Het
Vipas39	A	G	12: 87,263,903		probably null	Het
Zfp689	A	T	7: 127,444,838	C207S	probably damaging	Het
Zfpl1	C	A	19: 6,084,402	E18*	probably null	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
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
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'- TCTGCCCAAATCTCCAGTGG -3'
(R):5'- AGCATGCTCATGAGTGTTACG -3'

Sequencing Primer
(F):5'- AAATCTCCAGTGGTCTGTCACG -3'
(R):5'- TCATGAGTGTTACGATGAGGAGCTAC -3'

Posted On

2019-10-17