Mutagenetix > Incidental Mutation

Incidental Mutation 'R7839:Bfsp1'

606149

Institutional Source

Beutler Lab

Gene Symbol

Bfsp1

Ensembl Gene

ENSMUSG00000027420

Gene Name

beaded filament structural protein 1, in lens-CP94

Synonyms

filensin

MMRRC Submission

045893-MU

Accession Numbers

Essential gene?

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

Stock #

R7839 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

143826528-143863173 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 143831850 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 313 (I313F)

Ref Sequence

ENSEMBL: ENSMUSP00000096899 (fasta)

Gene Model

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

AlphaFold

A2AMT1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028907
AA Change: I307F

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: I307F

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: I313F

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: I313F

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

0.1465

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (51/51)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 110,134,259 (GRCm38)	M986K	probably benign	Het
Adcyap1	A	G	17: 93,203,985 (GRCm38)	K129R	probably benign	Het
Anapc1	T	C	2: 128,684,608 (GRCm38)	D90G	probably damaging	Het
Ankrd17	G	A	5: 90,263,354 (GRCm38)	H1361Y	probably damaging	Het
Aqp4	T	A	18: 15,399,680 (GRCm38)	I119F	possibly damaging	Het
C130026I21Rik	C	T	1: 85,247,015 (GRCm38)	M266I	probably benign	Het
Cxcl9	A	G	5: 92,328,010 (GRCm38)	V5A	probably benign	Het
Cyfip1	G	A	7: 55,886,735 (GRCm38)	V304M	probably damaging	Het
Cyp2d22	A	G	15: 82,372,571 (GRCm38)	V334A	probably damaging	Het
Cyp2j12	A	G	4: 96,099,656 (GRCm38)	V499A	possibly damaging	Het
Cyth3	A	G	5: 143,697,754 (GRCm38)	E136G	probably benign	Het
Degs2	CTTAGTGAAT	CT	12: 108,692,201 (GRCm38)		probably null	Het
Dnah7a	A	G	1: 53,567,175 (GRCm38)	S1229P	probably benign	Het
Dopey1	T	A	9: 86,542,765 (GRCm38)	C2087*	probably null	Het
Dopey2	A	T	16: 93,763,941 (GRCm38)	H889L	probably damaging	Het
Elf1	A	G	14: 79,536,415 (GRCm38)	E22G	probably benign	Het
Gbgt1	T	C	2: 28,503,170 (GRCm38)	V90A	probably damaging	Het
Glis3	T	C	19: 28,317,373 (GRCm38)	D675G	possibly damaging	Het
Glt8d1	G	T	14: 31,001,831 (GRCm38)		probably benign	Het
Gm12166	T	C	11: 46,052,060 (GRCm38)	T79A	possibly damaging	Het
Gzf1	T	A	2: 148,683,895 (GRCm38)	Y95*	probably null	Het
Insig2	T	C	1: 121,312,320 (GRCm38)	I84V	probably benign	Het
Mapkapk2	A	G	1: 131,097,519 (GRCm38)	S3P	unknown	Het
Mettl7a1	T	C	15: 100,305,076 (GRCm38)	V77A	possibly damaging	Het
Nell2	T	C	15: 95,298,938 (GRCm38)	N499S	probably benign	Het
Nlrp9b	G	A	7: 20,024,473 (GRCm38)	R545H	possibly damaging	Het
Obox7	T	A	7: 14,665,425 (GRCm38)	I192N	probably benign	Het
Olfr287	T	C	15: 98,208,145 (GRCm38)	I80V	probably damaging	Het
Olfr813	A	T	10: 129,857,030 (GRCm38)	I171F	possibly damaging	Het
Plec	A	T	15: 76,176,383 (GRCm38)	V3118E	probably damaging	Het
Plk3	T	C	4: 117,129,330 (GRCm38)	T571A	probably damaging	Het
Ppa2	T	C	3: 133,376,590 (GRCm38)		probably null	Het
Rabl6	A	T	2: 25,592,817 (GRCm38)	H183Q	probably damaging	Het
Rad51ap2	T	A	12: 11,457,237 (GRCm38)	S387T	possibly damaging	Het
Rbm33	A	G	5: 28,368,399 (GRCm38)		probably null	Het
Robo4	T	C	9: 37,410,759 (GRCm38)	S724P	probably damaging	Het
Rtf2	T	C	2: 172,466,333 (GRCm38)		probably null	Het
Slc45a2	A	T	15: 11,027,749 (GRCm38)	Q468L	probably benign	Het
Slc6a15	A	G	10: 103,404,799 (GRCm38)	I428V	probably benign	Het
Taar7f	C	A	10: 24,050,069 (GRCm38)	A187E	possibly damaging	Het
Tob1	T	A	11: 94,213,772 (GRCm38)	Y45N	probably damaging	Het
Trappc10	A	G	10: 78,188,812 (GRCm38)	V1161A	possibly damaging	Het
Trbv13-2	T	C	6: 41,121,587 (GRCm38)	V32A	probably benign	Het
Trpm8	T	A	1: 88,326,454 (GRCm38)	L133Q	possibly damaging	Het
Ttn	T	C	2: 76,708,168 (GRCm38)	T34729A	probably benign	Het
Uba6	G	T	5: 86,122,412 (GRCm38)		probably null	Het
Unc13c	T	C	9: 73,933,314 (GRCm38)	D85G	possibly damaging	Het
Vmn1r176	T	C	7: 23,834,969 (GRCm38)	D253G	possibly damaging	Het
Vmn2r34	T	A	7: 7,684,174 (GRCm38)	I175F	possibly damaging	Het
Vmn2r61	T	A	7: 42,266,608 (GRCm38)	I215N	probably damaging	Het
Vwa5a	C	A	9: 38,723,503 (GRCm38)	S202R	probably damaging	Het
Zfp383	G	A	7: 29,915,058 (GRCm38)	C246Y	probably damaging	Het
Zfp40	T	C	17: 23,176,989 (GRCm38)	D208G	probably damaging	Het
Zfp992	C	A	4: 146,466,418 (GRCm38)	L199I	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
R4914:Bfsp1	UTSW	2	143,827,471 (GRCm38)	missense	probably benign	0.21
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
X0022:Bfsp1	UTSW	2	143,858,117 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGCCCAAATCTCCAGTG -3'
(R):5'- GCATGCTCATGAGTGTTACG -3'

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

Posted On

2019-12-20