Mutagenetix > Incidental Mutation

Incidental Mutation 'R2061:Bfsp1'

316219

Institutional Source

Beutler Lab

Gene Symbol

Bfsp1

Ensembl Gene

ENSMUSG00000027420

Gene Name

beaded filament structural protein 1, in lens-CP94

Synonyms

filensin

MMRRC Submission

040066-MU

Accession Numbers

Essential gene?

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

Stock #

R2061 (G1)

Quality Score

126

Status

Not validated

Chromosome

Chromosomal Location

143826528-143863173 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143862678 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 85 (V85A)

Ref Sequence

ENSEMBL: ENSMUSP00000096899 (fasta)

Gene Model

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

AlphaFold

A2AMT1

Predicted Effect

probably benign
Transcript: ENSMUST00000028907
AA Change: V85A

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: V85A

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 benign
Transcript: ENSMUST00000099296
AA Change: V85A

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: V85A

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (124/125)

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,620,359 (GRCm38)	S191P	probably damaging	Het
Ak2	C	T	4: 129,008,197 (GRCm38)	A221V	probably damaging	Het
Akap9	T	A	5: 3,961,010 (GRCm38)	V571E	probably damaging	Het
Amph	G	T	13: 19,125,035 (GRCm38)	E428*	probably null	Het
Armh3	C	T	19: 45,978,667 (GRCm38)	R12Q	probably damaging	Het
Arnt2	T	A	7: 84,343,870 (GRCm38)	D154V	probably damaging	Het
Arrdc1	G	A	2: 24,926,352 (GRCm38)	Q202*	probably null	Het
Ate1	A	G	7: 130,510,913 (GRCm38)	C72R	probably damaging	Het
Atox1	A	G	11: 55,454,898 (GRCm38)	V22A	possibly damaging	Het
Bbs12	A	T	3: 37,319,066 (GRCm38)	M3L	probably damaging	Het
Bltp2	T	A	11: 78,268,749 (GRCm38)	C541*	probably null	Het
Caskin2	C	A	11: 115,803,630 (GRCm38)	V382F	probably benign	Het
Ccdc39	T	A	3: 33,819,896 (GRCm38)	M596L	probably damaging	Het
Cd22	A	C	7: 30,876,156 (GRCm38)	Y154D	probably benign	Het
Cd22	C	T	7: 30,870,105 (GRCm38)	V529M	probably damaging	Het
Cdadc1	T	A	14: 59,581,334 (GRCm38)	E348D	probably damaging	Het
Cdhr2	T	C	13: 54,720,818 (GRCm38)	V531A	probably damaging	Het
Cdk11b	A	G	4: 155,641,604 (GRCm38)		probably benign	Het
Cebpa	G	T	7: 35,119,522 (GRCm38)	R35L	probably damaging	Het
Chat	T	C	14: 32,446,873 (GRCm38)	N235S	probably benign	Het
Col12a1	T	A	9: 79,617,705 (GRCm38)	I2725F	possibly damaging	Het
Cracr2b	A	G	7: 141,465,280 (GRCm38)	E231G	probably damaging	Het
Cryaa	G	T	17: 31,681,055 (GRCm38)	A151S	probably benign	Het
Cspg4b	T	A	13: 113,318,094 (GRCm38)	W225R	probably damaging	Het
Dab1	A	T	4: 104,678,741 (GRCm38)	I116F	probably damaging	Het
Ddx43	C	A	9: 78,396,104 (GRCm38)	N75K	probably benign	Het
Dmbt1	T	G	7: 131,099,133 (GRCm38)	C1014G	possibly damaging	Het
Dner	C	A	1: 84,405,989 (GRCm38)	C558F	probably damaging	Het
Dsc2	A	G	18: 20,032,399 (GRCm38)	V839A	possibly damaging	Het
Dsg3	C	T	18: 20,527,737 (GRCm38)	R378*	probably null	Het
Ecpas	G	T	4: 58,824,270 (GRCm38)	P1116T	probably damaging	Het
Emilin1	C	T	5: 30,917,738 (GRCm38)	P441L	possibly damaging	Het
Epha6	T	C	16: 59,655,797 (GRCm38)	M1069V	probably damaging	Het
F930017D23Rik	A	C	10: 43,604,420 (GRCm38)		noncoding transcript	Het
Faf1	A	T	4: 109,710,808 (GRCm38)	N22Y	probably damaging	Het
Flrt3	A	T	2: 140,661,453 (GRCm38)	V85E	probably damaging	Het
Gadl1	T	A	9: 115,941,380 (GRCm38)	I87N	probably damaging	Het
Galnt14	A	G	17: 73,512,153 (GRCm38)	F314S	probably damaging	Het
Gba2	A	T	4: 43,574,029 (GRCm38)	Y141*	probably null	Het
Gdap1	A	T	1: 17,145,465 (GRCm38)		probably benign	Het
Gfod1	A	T	13: 43,303,243 (GRCm38)		probably null	Het
Gm14295	C	T	2: 176,810,681 (GRCm38)	R655*	probably null	Het
Gm4353	A	G	7: 116,083,699 (GRCm38)	S216P	probably damaging	Het
Gm6605	T	A	7: 38,448,282 (GRCm38)		noncoding transcript	Het
Hectd1	A	T	12: 51,794,444 (GRCm38)	D634E	probably damaging	Het
Helz2	A	G	2: 181,240,544 (GRCm38)	I152T	probably damaging	Het
Hivep1	A	G	13: 42,160,124 (GRCm38)	K1947E	possibly damaging	Het
Ifrd1	A	T	12: 40,213,245 (GRCm38)	F144L	probably benign	Het
Inhca	T	C	9: 103,268,314 (GRCm38)	M395V	probably benign	Het
Itgae	A	T	11: 73,118,622 (GRCm38)	Q544L	probably benign	Het
Jmjd1c	A	T	10: 67,218,426 (GRCm38)	E323D	probably damaging	Het
Kdm5a	G	T	6: 120,381,617 (GRCm38)	R207L	probably benign	Het
Kif5b	C	T	18: 6,226,377 (GRCm38)		probably null	Het
Lbp	T	C	2: 158,324,579 (GRCm38)	V351A	probably benign	Het
Lss	A	T	10: 76,546,098 (GRCm38)		probably null	Het
Madd	A	C	2: 91,161,486 (GRCm38)		probably benign	Het
Map6	G	A	7: 99,317,472 (GRCm38)	V503I	probably damaging	Het
Mark1	A	G	1: 184,928,063 (GRCm38)	L22P	probably damaging	Het
Mcfd2	T	C	17: 87,255,976 (GRCm38)	N130D	probably damaging	Het
Mcm3ap	A	G	10: 76,470,068 (GRCm38)	N5S	probably benign	Het
Mdm4	A	T	1: 133,012,651 (GRCm38)	F48I	probably damaging	Het
Mga	A	T	2: 119,964,980 (GRCm38)		probably benign	Het
Mknk2	A	T	10: 80,671,557 (GRCm38)		probably null	Het
Mmp15	T	C	8: 95,370,779 (GRCm38)	Y459H	possibly damaging	Het
Mthfd1l	A	G	10: 4,103,288 (GRCm38)	K879R	probably benign	Het
Mycbp2	T	C	14: 103,287,260 (GRCm38)	K655E	probably damaging	Het
Nasp	T	C	4: 116,611,126 (GRCm38)	N221D	probably benign	Het
Ndc80	T	C	17: 71,514,218 (GRCm38)	E245G	probably benign	Het
Nmral1	C	T	16: 4,716,329 (GRCm38)	E83K	probably damaging	Het
Noa1	T	A	5: 77,304,187 (GRCm38)	Q550L	possibly damaging	Het
Nutm1	A	T	2: 112,255,752 (GRCm38)	Y211*	probably null	Het
Or10n1	G	T	9: 39,613,775 (GRCm38)	M69I	probably benign	Het
Or10v1	T	A	19: 11,896,557 (GRCm38)	Y179N	probably damaging	Het
Or2ag18	A	C	7: 106,805,768 (GRCm38)	H231Q	probably benign	Het
Or4l1	T	C	14: 49,929,021 (GRCm38)	I174M	possibly damaging	Het
Or5b118	A	G	19: 13,471,241 (GRCm38)	I90M	probably damaging	Het
Otoa	T	C	7: 121,131,328 (GRCm38)	F584L	probably damaging	Het
Palb2	G	A	7: 122,124,525 (GRCm38)	T304I	possibly damaging	Het
Pcolce2	A	T	9: 95,670,176 (GRCm38)	M121L	probably benign	Het
Pcsk5	T	C	19: 17,454,872 (GRCm38)	T1460A	probably benign	Het
Pdzrn4	A	T	15: 92,770,160 (GRCm38)	D731V	probably damaging	Het
Pex11b	C	A	3: 96,635,721 (GRCm38)	Q12K	possibly damaging	Het
Pigw	G	C	11: 84,877,310 (GRCm38)	Q398E	probably benign	Het
Pkd1	A	G	17: 24,569,914 (GRCm38)	E882G	possibly damaging	Het
Pkhd1	A	T	1: 20,612,812 (GRCm38)	N55K	possibly damaging	Het
Plch2	A	T	4: 155,042,841 (GRCm38)		probably benign	Het
Plcl1	T	A	1: 55,751,345 (GRCm38)	L1058Q	probably benign	Het
Ppfia2	T	C	10: 106,837,329 (GRCm38)	S511P	possibly damaging	Het
Ppfibp2	T	C	7: 107,739,230 (GRCm38)	L676P	probably damaging	Het
Ppp6c	T	G	2: 39,226,174 (GRCm38)	D23A	probably damaging	Het
Prss30	G	A	17: 23,974,668 (GRCm38)		probably benign	Het
Ptprz1	T	C	6: 23,049,675 (GRCm38)		probably null	Het
Rec114	T	A	9: 58,652,905 (GRCm38)		probably benign	Het
Ryr2	T	C	13: 11,665,878 (GRCm38)		probably null	Het
Ryr3	A	T	2: 112,663,004 (GRCm38)	I3715N	possibly damaging	Het
Scin	T	C	12: 40,080,948 (GRCm38)	Y322C	probably damaging	Het
Scn3a	A	G	2: 65,461,308 (GRCm38)	V1698A	probably damaging	Het
Scn5a	G	A	9: 119,485,651 (GRCm38)	S1996L	probably damaging	Het
Serpinb2	A	G	1: 107,522,795 (GRCm38)	K174R	possibly damaging	Het
Slc16a4	T	C	3: 107,300,711 (GRCm38)	I179T	probably benign	Het
Slc35b1	T	G	11: 95,385,892 (GRCm38)	F102V	possibly damaging	Het
Slc66a2	G	T	18: 80,291,715 (GRCm38)	A232S	probably benign	Het
Slc6a15	A	G	10: 103,409,734 (GRCm38)	D526G	probably benign	Het
Spata16	A	G	3: 26,924,370 (GRCm38)	D495G	probably damaging	Het
Stk11ip	G	A	1: 75,529,584 (GRCm38)	E583K	possibly damaging	Het
Stk-ps1	T	G	17: 36,398,152 (GRCm38)		noncoding transcript	Het
Sufu	T	A	19: 46,397,212 (GRCm38)	I37N	probably damaging	Het
Tacr1	C	T	6: 82,492,554 (GRCm38)	P140S	probably damaging	Het
Tas1r3	G	A	4: 155,860,470 (GRCm38)	R765C	probably damaging	Het
Tenm3	C	T	8: 48,342,256 (GRCm38)		probably null	Het
Tex36	A	T	7: 133,595,223 (GRCm38)	I55N	probably damaging	Het
Tmem150c	T	C	5: 100,080,028 (GRCm38)	Y192C	probably damaging	Het
Tmem237	A	G	1: 59,120,286 (GRCm38)		probably benign	Het
Trim11	A	G	11: 58,982,063 (GRCm38)	E191G	probably damaging	Het
Ttll3	C	T	6: 113,409,042 (GRCm38)	A612V	possibly damaging	Het
Ttn	G	A	2: 76,977,122 (GRCm38)	A89V	probably damaging	Het
Usp37	A	G	1: 74,468,272 (GRCm38)	F529L	probably damaging	Het
Vmn1r217	A	C	13: 23,114,528 (GRCm38)	V68G	probably benign	Het
Vwf	T	C	6: 125,591,188 (GRCm38)	S349P	probably damaging	Het
Wt1	G	A	2: 105,131,157 (GRCm38)		probably null	Het
Zcchc7	T	A	4: 44,895,838 (GRCm38)	L262H	probably damaging	Het
Zfp873	A	G	10: 82,060,157 (GRCm38)	S241G	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
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
R7839:Bfsp1	UTSW	2	143,831,850 (GRCm38)	missense	possibly damaging	0.79
X0022:Bfsp1	UTSW	2	143,858,117 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAAGTTGGACGTCTGCAGG -3'
(R):5'- CGGTTTATTTAGCAGGCGC -3'

Sequencing Primer
(F):5'- TCTCTCCGCGGACAGTCTG -3'
(R):5'- ATGTACCGCCGCAGCTAC -3'

Posted On

2015-05-15