Mutagenetix > Incidental Mutation

Incidental Mutation 'R1816:Bfsp1'

204396

Institutional Source

Beutler Lab

Gene Symbol

Bfsp1

Ensembl Gene

ENSMUSG00000027420

Gene Name

beaded filament structural protein 1, in lens-CP94

Synonyms

filensin

MMRRC Submission

039844-MU

Accession Numbers

Essential gene?

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

Stock #

R1816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143826528-143863173 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 143841679 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 242 (A242T)

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: A236T

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000028907
Gene: ENSMUSG00000027420
AA Change: A236T

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: A242T

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000096899
Gene: ENSMUSG00000027420
AA Change: A242T

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

0.1066

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.9%

Validation Efficiency

99% (72/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	A	7: 40,994,798 (GRCm38)	Y721*	probably null	Het
4933405L10Rik	T	A	8: 105,709,859 (GRCm38)	V220E	possibly damaging	Het
4933434E20Rik	T	C	3: 90,053,091 (GRCm38)	V13A	possibly damaging	Het
Adam1b	T	G	5: 121,501,725 (GRCm38)	Q419P	probably damaging	Het
Ankib1	A	G	5: 3,734,028 (GRCm38)	V316A	probably benign	Het
Anks1	T	A	17: 27,986,573 (GRCm38)	D294E	probably damaging	Het
Atr	T	C	9: 95,866,694 (GRCm38)	S431P	probably benign	Het
BC005561	A	G	5: 104,517,834 (GRCm38)	D74G	probably benign	Het
BC037034	A	G	5: 138,260,341 (GRCm38)	V548A	possibly damaging	Het
Bptf	A	T	11: 107,060,579 (GRCm38)	V279E	probably damaging	Het
Camkk2	A	G	5: 122,734,180 (GRCm38)	L540P	probably damaging	Het
Cd84	A	G	1: 171,872,750 (GRCm38)	T145A	possibly damaging	Het
Ceacam12	T	A	7: 18,071,765 (GRCm38)		probably null	Het
Cntnap5a	G	T	1: 116,428,888 (GRCm38)	A823S	probably benign	Het
Cp	T	C	3: 19,968,220 (GRCm38)		probably benign	Het
Dhx58	A	G	11: 100,703,152 (GRCm38)	V163A	probably damaging	Het
Dicer1	T	C	12: 104,722,151 (GRCm38)	E389G	probably damaging	Het
Disp1	T	A	1: 183,098,575 (GRCm38)	D288V	probably damaging	Het
Dnah7a	A	G	1: 53,631,742 (GRCm38)		probably benign	Het
Eaf2	T	G	16: 36,808,009 (GRCm38)		probably benign	Het
Efna1	T	C	3: 89,276,387 (GRCm38)	N44S	possibly damaging	Het
Etnppl	T	C	3: 130,634,562 (GRCm38)	I462T	probably benign	Het
Fam83d	G	T	2: 158,768,150 (GRCm38)	A13S	possibly damaging	Het
Fer1l4	C	T	2: 156,035,199 (GRCm38)	V1139M	probably damaging	Het
Fstl1	A	G	16: 37,826,724 (GRCm38)		probably null	Het
Gm14226	A	T	2: 155,025,629 (GRCm38)	D502V	probably damaging	Het
Gm5117	T	A	8: 31,738,958 (GRCm38)		noncoding transcript	Het
Gm973	A	G	1: 59,582,399 (GRCm38)	N566S	probably damaging	Het
Grm7	A	T	6: 111,495,791 (GRCm38)	K16*	probably null	Het
Hbb-bh2	G	A	7: 103,840,378 (GRCm38)	T17I	possibly damaging	Het
Htt	C	T	5: 34,803,740 (GRCm38)	A237V	probably benign	Het
Itga6	T	C	2: 71,840,809 (GRCm38)	V665A	probably benign	Het
Klf4	G	T	4: 55,530,977 (GRCm38)	R45S	probably benign	Het
Mki67	T	C	7: 135,707,387 (GRCm38)	D445G	possibly damaging	Het
Myo10	T	C	15: 25,800,200 (GRCm38)	V1454A	probably damaging	Het
Nrbp1	T	A	5: 31,245,813 (GRCm38)	I210N	probably damaging	Het
Nudt12	G	A	17: 59,010,136 (GRCm38)	P172L	probably damaging	Het
Odam	A	G	5: 87,889,470 (GRCm38)		probably null	Het
Olfr1080	A	T	2: 86,553,667 (GRCm38)	C152*	probably null	Het
Olfr1179	T	G	2: 88,402,599 (GRCm38)	I112L	possibly damaging	Het
Olfr393	T	C	11: 73,847,199 (GRCm38)	K309E	probably benign	Het
Olfr508	T	C	7: 108,630,157 (GRCm38)	L55P	probably damaging	Het
Olfr695	A	T	7: 106,873,488 (GRCm38)	Y252*	probably null	Het
Olfr998	G	T	2: 85,590,925 (GRCm38)	K128N	probably benign	Het
Pcm1	T	A	8: 41,309,537 (GRCm38)	S1412T	probably damaging	Het
Pgap1	A	G	1: 54,492,057 (GRCm38)	L753P	probably damaging	Het
Pi4k2b	T	C	5: 52,750,746 (GRCm38)	S153P	probably damaging	Het
Pik3c2b	C	T	1: 133,101,370 (GRCm38)	A1398V	probably benign	Het
Pkhd1l1	T	C	15: 44,528,239 (GRCm38)	I1567T	possibly damaging	Het
Rapgef6	G	A	11: 54,694,488 (GRCm38)	V1571I	probably benign	Het
Rfx2	C	A	17: 56,808,305 (GRCm38)	E5*	probably null	Het
Sh3tc1	C	A	5: 35,700,584 (GRCm38)		probably null	Het
Slc22a12	G	A	19: 6,542,653 (GRCm38)	Q20*	probably null	Het
Slc4a1	A	G	11: 102,351,230 (GRCm38)	C861R	probably damaging	Het
Snrnp25	G	A	11: 32,207,565 (GRCm38)	V48I	probably damaging	Het
Spata1	G	T	3: 146,481,207 (GRCm38)	P211Q	probably damaging	Het
Srgap1	G	A	10: 121,925,971 (GRCm38)	Q91*	probably null	Het
Stab1	T	C	14: 31,157,465 (GRCm38)	D686G	probably benign	Het
Stx8	T	A	11: 68,011,326 (GRCm38)	M112K	possibly damaging	Het
Tfap2b	A	T	1: 19,209,212 (GRCm38)	K15N	probably damaging	Het
Thbs2	C	A	17: 14,670,713 (GRCm38)	D1052Y	probably benign	Het
Thbs2	T	A	17: 14,670,714 (GRCm38)	E1051D	probably benign	Het
Tlr2	T	C	3: 83,838,209 (GRCm38)	Y189C	probably damaging	Het
Tmem268	C	A	4: 63,565,710 (GRCm38)	P55T	possibly damaging	Het
Tnpo3	T	C	6: 29,557,017 (GRCm38)	H745R	probably benign	Het
Ube2s	T	C	7: 4,811,555 (GRCm38)	N2S	probably damaging	Het
Ulk1	A	G	5: 110,787,831 (GRCm38)	Y39H	probably damaging	Het
Vmn1r49	G	T	6: 90,072,803 (GRCm38)	D72E	possibly damaging	Het
Vmn2r27	C	A	6: 124,230,371 (GRCm38)	G104*	probably null	Het
Vmn2r92	A	G	17: 18,166,677 (GRCm38)	I93V	probably damaging	Het
Zdhhc20	A	T	14: 57,890,143 (GRCm38)	V13E	probably benign	Het
Zfp958	A	T	8: 4,629,147 (GRCm38)	I391F	possibly damaging	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
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
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'- CCTTGGTAGAAGAGATGTGACTC -3'
(R):5'- GAAGGGTTCTTACTCCTTCATTGTC -3'

Sequencing Primer
(F):5'- GTCCCAGAACTCTTCTTAGCAGAATG -3'
(R):5'- CTTCATTGTCTCTTTTATCTTTGCAC -3'

Posted On

2014-06-23