Mutagenetix > Incidental Mutations

Incidental Mutation 'R7075:Bfsp1'

549148

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 #

R7075 (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 143848965 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 159 (Q159L)

Ref Sequence

ENSEMBL: ENSMUSP00000096899 (fasta)

Gene Model

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

AlphaFold

A2AMT1

Predicted Effect

probably damaging
Transcript: ENSMUST00000028907
AA Change: Q159L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: Q159L

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 damaging
Transcript: ENSMUST00000099296
AA Change: Q159L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: Q159L

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

0.7306

Coding Region Coverage

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

Validation Efficiency

95% (60/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp1	A	T	12: 85,279,008	H72Q	unknown	Het
Afmid	T	A	11: 117,835,705	D218E	probably benign	Het
Ankhd1	T	C	18: 36,559,989	V1A		Het
Atf7ip	T	C	6: 136,596,515		probably null	Het
BC024139	C	T	15: 76,124,399	V326I	probably benign	Het
Cct2	A	T	10: 117,061,465	W125R	unknown	Het
Cnksr3	G	T	10: 7,152,931	T147K	probably benign	Het
Colq	C	G	14: 31,552,909	G101R	probably damaging	Het
Dlg5	G	T	14: 24,177,797	T352K	possibly damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Ebna1bp2	T	C	4: 118,622,102	V119A	probably benign	Het
Eif2ak4	C	T	2: 118,420,810	Q318*	probably null	Het
Eif2b1	G	A	5: 124,571,251	T286M	probably damaging	Het
Fam53b	G	T	7: 132,759,623	D225E	probably damaging	Het
Fh1	A	G	1: 175,607,855	I354T	probably benign	Het
Fnbp1	T	C	2: 31,058,914	H206R	probably benign	Het
Gabrg3	A	T	7: 57,323,696	D74E	probably damaging	Het
Galnt18	A	T	7: 111,556,388	V246E	possibly damaging	Het
Glt6d1	T	C	2: 25,795,280	R44G	probably benign	Het
Gm17087	T	C	17: 8,566,803	M23V	probably benign	Het
Gpr160	A	T	3: 30,896,777	I333L	possibly damaging	Het
Hars	T	C	18: 36,772,355	N142S	possibly damaging	Het
Hmgcll1	T	C	9: 76,056,552	V97A	possibly damaging	Het
Itih4	T	G	14: 30,892,603	V474G	probably damaging	Het
Keap1	C	T	9: 21,231,256	V568I	probably benign	Het
Kifc5b	A	G	17: 26,925,898	M633V	probably benign	Het
Lsm4	A	G	8: 70,677,785	E18G	probably damaging	Het
Meox1	T	A	11: 101,893,743	Q88L	probably damaging	Het
Mettl25	T	C	10: 105,829,924	N147S	possibly damaging	Het
Mphosph9	A	C	5: 124,320,859	W83G	probably damaging	Het
Olfr1006	T	A	2: 85,674,824	Y109F		Het
Olfr1098	T	G	2: 86,922,646	K295N	possibly damaging	Het
Olfr344	T	C	2: 36,569,180	I194T	probably benign	Het
Olfr862	T	A	9: 19,884,063	M81L	probably benign	Het
Olfr878	T	C	9: 37,919,074	V139A	probably benign	Het
Olfr992	T	C	2: 85,400,200	D111G	probably damaging	Het
Otogl	G	T	10: 107,778,929	T1954K	probably benign	Het
Padi2	T	C	4: 140,933,217	V336A	probably damaging	Het
Phf21a	C	T	2: 92,360,379	Q675*	probably null	Het
Ppip5k1	T	C	2: 121,321,750	E1092G	probably damaging	Het
Psg21	T	C	7: 18,654,861	N102S	probably damaging	Het
Ralgapa1	C	A	12: 55,820,723	Q15H	possibly damaging	Het
Rbm26	A	T	14: 105,160,607	D26E	unknown	Het
Rbp4	T	C	19: 38,124,061	Y152C	probably damaging	Het
Recql4	A	G	15: 76,706,424	V646A	possibly damaging	Het
Rnf220	A	T	4: 117,285,882	M63K	probably benign	Het
Selenok	T	C	14: 29,970,067	S21P	probably damaging	Het
Senp1	A	G	15: 98,058,326	V404A	probably benign	Het
Sh3yl1	A	G	12: 30,940,166		probably null	Het
Snx32	A	G	19: 5,496,990	L275P	probably damaging	Het
Ssfa2	T	A	2: 79,635,660	S41T	probably damaging	Het
Stat5a	T	C	11: 100,879,693	V519A	possibly damaging	Het
Tbc1d10b	A	T	7: 127,203,238	V388E	possibly damaging	Het
Tdrd6	A	G	17: 43,625,174	V1661A	probably benign	Het
Tmem63a	T	A	1: 180,961,149	F350L	probably damaging	Het
Trio	A	T	15: 27,898,000	I401K	unknown	Het
Ttn	T	C	2: 76,716,829	E32291G	probably damaging	Het
Tubgcp5	G	T	7: 55,829,407	V1002L	probably benign	Het
Vav3	C	T	3: 109,525,924	T410I	possibly damaging	Het
Vmn1r1	A	T	1: 182,158,032	F23I	probably benign	Het
Vmn2r84	T	A	10: 130,391,072	Q299L	probably damaging	Het
Vmn2r85	T	A	10: 130,422,688	E499D	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
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
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'- GCAATTCCCGGCATATCCTG -3'
(R):5'- TTATCAAGTCCCCACCTCGG -3'

Sequencing Primer
(F):5'- GATGTTCTCTAGGCACCTCTGG -3'
(R):5'- ACCTCGGCCCTGTGTTTCTAC -3'

Posted On

2019-05-15