Mutagenetix > Incidental Mutation

Incidental Mutation 'R3975:Bfsp2'

312606

Institutional Source

Beutler Lab

Gene Symbol

Bfsp2

Ensembl Gene

ENSMUSG00000032556

Gene Name

beaded filament structural protein 2, phakinin

Synonyms

CP49

MMRRC Submission

040939-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R3975 (G1)

Quality Score

172

Status

Validated

Chromosome

Chromosomal Location

103302123-103357608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103357271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 52 (V52A)

Ref Sequence

ENSEMBL: ENSMUSP00000116249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049452] [ENSMUST00000124310] [ENSMUST00000189066] [ENSMUST00000189588]

AlphaFold

Q6NVD9

Predicted Effect

probably benign
Transcript: ENSMUST00000049452

SMART Domains

Protein: ENSMUSP00000046021
Gene: ENSMUSG00000042757

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:TMEM108	61	574	1.6e-275	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124310
AA Change: V52A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116249
Gene: ENSMUSG00000032556
AA Change: V52A

Domain	Start	End	E-Value	Type
Filament	102	416	6.85e-79	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144420

Predicted Effect

probably benign
Transcript: ENSMUST00000189066

SMART Domains

Protein: ENSMUSP00000141160
Gene: ENSMUSG00000042757

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	132	179	N/A	INTRINSIC
low complexity region	292	314	N/A	INTRINSIC
low complexity region	391	410	N/A	INTRINSIC
transmembrane domain	468	490	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189588

SMART Domains

Protein: ENSMUSP00000140027
Gene: ENSMUSG00000042757

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	132	179	N/A	INTRINSIC
low complexity region	292	314	N/A	INTRINSIC
low complexity region	391	410	N/A	INTRINSIC
transmembrane domain	468	490	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191069

Meta Mutation Damage Score

0.1534

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

95% (59/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex. [provided by RefSeq, Jun 2009]
PHENOTYPE: Mutations at this locus result in eye abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	T	A	1: 63,586,888 (GRCm39)	Y416*	probably null	Het
Akr1b10	G	T	6: 34,369,431 (GRCm39)		probably null	Het
Arap2	G	T	5: 62,906,237 (GRCm39)	P261T	possibly damaging	Het
Bckdha	C	A	7: 25,330,858 (GRCm39)	D53Y	probably damaging	Het
Bola3	T	C	6: 83,328,249 (GRCm39)	L45P	probably benign	Het
Cacna2d4	A	G	6: 119,255,134 (GRCm39)		probably null	Het
Ccn6	C	G	10: 39,031,094 (GRCm39)	C143S	probably damaging	Het
Ceacam16	C	A	7: 19,587,537 (GRCm39)	Q410H	probably damaging	Het
Cenpe	A	G	3: 134,940,986 (GRCm39)		probably null	Het
Cenpe	T	C	3: 134,944,233 (GRCm39)		probably null	Het
Clca3a1	A	T	3: 144,738,400 (GRCm39)	V36D	probably damaging	Het
Copa	T	A	1: 171,948,812 (GRCm39)	S1155T	probably benign	Het
Crb2	C	A	2: 37,683,680 (GRCm39)	P1061T	possibly damaging	Het
Crot	T	C	5: 9,027,541 (GRCm39)	T264A	probably benign	Het
Cyp51	C	T	5: 4,141,877 (GRCm39)	G346S	probably damaging	Het
Dnah6	A	G	6: 73,098,975 (GRCm39)	S2027P	possibly damaging	Het
Fbh1	T	C	2: 11,772,021 (GRCm39)	H220R	possibly damaging	Het
Gdf2	T	A	14: 33,666,791 (GRCm39)	V171D	probably damaging	Het
Golgb1	T	G	16: 36,738,933 (GRCm39)	V2424G	probably damaging	Het
Gpbp1l1	T	C	4: 116,428,182 (GRCm39)		probably null	Het
Gpx6	C	A	13: 21,501,828 (GRCm39)	S150Y	probably damaging	Het
Greb1l	A	G	18: 10,522,247 (GRCm39)	N672S	possibly damaging	Het
Kcnma1	C	T	14: 24,053,815 (GRCm39)		probably null	Het
Lrba	T	C	3: 86,258,562 (GRCm39)	F1350L	probably damaging	Het
Nat8f4	A	G	6: 85,878,052 (GRCm39)	V157A	possibly damaging	Het
Niban1	T	C	1: 151,525,086 (GRCm39)	Y164H	probably damaging	Het
Nt5dc2	T	C	14: 30,860,832 (GRCm39)	S439P	probably damaging	Het
Or2ag12	T	C	7: 106,276,992 (GRCm39)	R234G	probably damaging	Het
Or2n1	A	G	17: 38,486,386 (GRCm39)	N137S	probably benign	Het
Or5t18	G	A	2: 86,636,804 (GRCm39)	P180S	possibly damaging	Het
Or8k40	T	A	2: 86,584,887 (GRCm39)	H65L	probably damaging	Het
Orm3	A	T	4: 63,274,395 (GRCm39)		probably null	Het
Otof	A	G	5: 30,528,056 (GRCm39)	L1929P	probably damaging	Het
Pex5l	C	A	3: 33,069,164 (GRCm39)	C111F	probably damaging	Het
Plcl1	T	A	1: 55,737,374 (GRCm39)	M905K	probably benign	Het
Prdm6	T	C	18: 53,673,278 (GRCm39)	I186T	possibly damaging	Het
Rara	T	G	11: 98,861,395 (GRCm39)	I236S	probably damaging	Het
Reln	A	T	5: 22,200,364 (GRCm39)	S1379T	possibly damaging	Het
Rnps1-ps	A	T	6: 7,983,149 (GRCm39)		noncoding transcript	Het
Rp1l1	T	A	14: 64,267,758 (GRCm39)	Y1115N	probably damaging	Het
Rpe65	A	T	3: 159,310,222 (GRCm39)	N135I	probably damaging	Het
Rps6	A	G	4: 86,775,050 (GRCm39)	V18A	probably benign	Het
Scrn3	T	C	2: 73,166,121 (GRCm39)	S385P	possibly damaging	Het
Sis	T	C	3: 72,850,968 (GRCm39)	T577A	probably damaging	Het
Slx1b	G	A	7: 126,290,979 (GRCm39)	L239F	probably damaging	Het
Smad4	G	T	18: 73,810,807 (GRCm39)	T59K	possibly damaging	Het
Smad6	A	G	9: 63,928,212 (GRCm39)	V32A	probably benign	Het
Smc6	T	A	12: 11,324,075 (GRCm39)	F73L	probably damaging	Het
Sorbs2	T	C	8: 46,225,747 (GRCm39)		probably null	Het
Svbp	T	A	4: 119,053,090 (GRCm39)	F32I	probably benign	Het
Tap1	C	A	17: 34,408,541 (GRCm39)		probably benign	Het
Tesk1	C	T	4: 43,445,786 (GRCm39)	P280S	possibly damaging	Het
Thrb	A	G	14: 18,033,456 (GRCm38)	I406M	probably damaging	Het
Tsc22d1	T	C	14: 76,656,049 (GRCm39)	S761P	probably damaging	Het
Ttn	T	C	2: 76,706,997 (GRCm39)		probably benign	Het
Umodl1	C	A	17: 31,203,763 (GRCm39)	Y525*	probably null	Het
Vmn2r70	C	T	7: 85,208,540 (GRCm39)	V646I	probably benign	Het
Wipf1	C	T	2: 73,267,513 (GRCm39)	G295D	probably benign	Het
Zim1	A	T	7: 6,680,129 (GRCm39)	H511Q	probably damaging	Het

Other mutations in Bfsp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Bfsp2	APN	9	103,330,297 (GRCm39)	missense	possibly damaging	0.90
IGL01160:Bfsp2	APN	9	103,357,367 (GRCm39)	missense	probably benign	0.02
R0408:Bfsp2	UTSW	9	103,357,299 (GRCm39)	missense	probably benign	0.06
R0463:Bfsp2	UTSW	9	103,303,854 (GRCm39)	missense	possibly damaging	0.94
R1454:Bfsp2	UTSW	9	103,357,424 (GRCm39)	start codon destroyed	probably null	0.59
R1854:Bfsp2	UTSW	9	103,327,030 (GRCm39)	missense	probably benign	0.01
R2139:Bfsp2	UTSW	9	103,327,074 (GRCm39)	missense	probably benign	0.19
R2187:Bfsp2	UTSW	9	103,303,976 (GRCm39)	nonsense	probably null
R4823:Bfsp2	UTSW	9	103,357,082 (GRCm39)	missense	probably damaging	1.00
R5035:Bfsp2	UTSW	9	103,357,065 (GRCm39)	missense	probably benign	0.35
R5973:Bfsp2	UTSW	9	103,309,856 (GRCm39)	critical splice donor site	probably null
R6005:Bfsp2	UTSW	9	103,325,749 (GRCm39)	missense	probably damaging	0.99
R6106:Bfsp2	UTSW	9	103,357,023 (GRCm39)	missense	probably benign	0.09
R6348:Bfsp2	UTSW	9	103,357,271 (GRCm39)	missense	probably benign	0.17
R6364:Bfsp2	UTSW	9	103,325,827 (GRCm39)	missense	probably damaging	0.98
R6701:Bfsp2	UTSW	9	103,357,077 (GRCm39)	missense	possibly damaging	0.68
R6736:Bfsp2	UTSW	9	103,357,403 (GRCm39)	missense	possibly damaging	0.60
R7129:Bfsp2	UTSW	9	103,357,118 (GRCm39)	missense	probably damaging	0.99
R7204:Bfsp2	UTSW	9	103,309,865 (GRCm39)	missense	probably damaging	0.99
R7329:Bfsp2	UTSW	9	103,327,121 (GRCm39)	missense	probably benign	0.01
R7453:Bfsp2	UTSW	9	103,330,306 (GRCm39)	missense	probably damaging	1.00
R8933:Bfsp2	UTSW	9	103,325,848 (GRCm39)	missense	probably benign	0.00
R8949:Bfsp2	UTSW	9	103,327,152 (GRCm39)	missense	probably benign	0.10
R9515:Bfsp2	UTSW	9	103,357,251 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CCTCAACAGTAGTGTGATCCC -3'
(R):5'- GCTCATGGAAGGCAGTAGAC -3'

Sequencing Primer
(F):5'- CAACAGTAGTGTGATCCCTTTCTGG -3'
(R):5'- TGGACCCTGTAAACCTGCCAG -3'

Posted On

2015-04-30