Mutagenetix > Incidental Mutation

Incidental Mutation 'R0408:Bfsp2'

40110

Institutional Source

Beutler Lab

Gene Symbol

Bfsp2

Ensembl Gene

ENSMUSG00000032556

Gene Name

beaded filament structural protein 2, phakinin

Synonyms

CP49

MMRRC Submission

038610-MU

Accession Numbers

Essential gene?

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

Stock #

R0408 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

103302123-103357608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103357299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 43 (S43T)

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: S43T

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116249
Gene: ENSMUSG00000032556
AA Change: S43T

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,903,446 (GRCm39)	N1032K	probably damaging	Het
Abcc8	A	G	7: 45,756,457 (GRCm39)	I1416T	probably damaging	Het
Aco2	T	C	15: 81,797,319 (GRCm39)		probably null	Het
Akap13	C	T	7: 75,396,544 (GRCm39)	L2514F	probably damaging	Het
Aldh1a3	A	G	7: 66,055,798 (GRCm39)	V331A	probably damaging	Het
Arid3a	T	A	10: 79,786,667 (GRCm39)	D473E	probably benign	Het
Atg9a	A	G	1: 75,161,939 (GRCm39)	S536P	probably damaging	Het
Atxn7	A	T	14: 14,100,317 (GRCm38)	S668C	probably damaging	Het
Bcar3	A	T	3: 122,302,033 (GRCm39)	I243F	probably damaging	Het
Bend6	G	A	1: 33,901,834 (GRCm39)	P183S	probably damaging	Het
Camk4	G	A	18: 33,262,845 (GRCm39)	D136N	probably damaging	Het
Ceacam3	G	T	7: 16,885,808 (GRCm39)		probably benign	Het
Chrm3	T	C	13: 9,927,969 (GRCm39)	I356V	probably benign	Het
Clec9a	T	A	6: 129,396,532 (GRCm39)	I133N	possibly damaging	Het
Ctnnd2	T	C	15: 30,634,823 (GRCm39)	L157P	probably damaging	Het
Ddhd2	T	C	8: 26,229,614 (GRCm39)		probably null	Het
Def8	T	C	8: 124,186,656 (GRCm39)	V436A	probably damaging	Het
Dipk1c	T	A	18: 84,738,488 (GRCm39)		probably null	Het
Dock10	T	C	1: 80,518,193 (GRCm39)	K1293R	probably benign	Het
Dync1h1	T	G	12: 110,598,126 (GRCm39)	D1772E	probably benign	Het
Ephx4	G	T	5: 107,561,387 (GRCm39)	G72C	probably damaging	Het
Fam136a	T	G	6: 86,343,707 (GRCm39)	V68G	possibly damaging	Het
Fcgrt	T	C	7: 44,751,363 (GRCm39)	E195G	probably damaging	Het
Fut9	T	A	4: 25,620,319 (GRCm39)	Q165L	possibly damaging	Het
Glb1l	T	C	1: 75,185,479 (GRCm39)	Y77C	probably damaging	Het
Gpr26	T	C	7: 131,569,249 (GRCm39)	V198A	possibly damaging	Het
Gpr26	C	A	7: 131,576,001 (GRCm39)		probably null	Het
Gsdma3	A	C	11: 98,526,164 (GRCm39)	E296A	probably benign	Het
Hyou1	G	T	9: 44,295,989 (GRCm39)	G385W	probably damaging	Het
Il17rb	T	C	14: 29,718,637 (GRCm39)	S482G	probably benign	Het
Itgb4	A	T	11: 115,898,428 (GRCm39)	R1715W	probably damaging	Het
Jak2	A	G	19: 29,263,717 (GRCm39)	S411G	probably benign	Het
Kdm3a	C	T	6: 71,588,663 (GRCm39)	D449N	probably benign	Het
Kifbp	T	C	10: 62,401,832 (GRCm39)	I23M	probably benign	Het
Klhl26	T	C	8: 70,905,130 (GRCm39)	D226G	probably damaging	Het
Klra1	T	A	6: 130,354,737 (GRCm39)	I94F	probably benign	Het
Lama3	A	G	18: 12,589,894 (GRCm39)	D808G	probably benign	Het
Lrp1b	C	T	2: 40,567,603 (GRCm39)	M272I	probably damaging	Het
Masp2	A	G	4: 148,690,496 (GRCm39)	D251G	probably benign	Het
Mob3b	T	C	4: 35,083,991 (GRCm39)	D66G	probably damaging	Het
Myo7a	T	C	7: 97,705,988 (GRCm39)	Q1863R	probably damaging	Het
Naa12	T	C	18: 80,255,029 (GRCm39)	S108P	probably damaging	Het
Or10al3	G	A	17: 38,012,190 (GRCm39)	V210I	probably benign	Het
Or4c103	A	T	2: 88,513,999 (GRCm39)	F26I	probably benign	Het
Pdgfd	T	A	9: 6,293,928 (GRCm39)	Y167*	probably null	Het
Pfas	A	G	11: 68,891,931 (GRCm39)		probably null	Het
Plin1	T	A	7: 79,372,394 (GRCm39)	T393S	probably damaging	Het
Prdm15	A	T	16: 97,636,986 (GRCm39)	N110K	possibly damaging	Het
Prune2	T	A	19: 17,099,674 (GRCm39)	V1726D	probably benign	Het
Sestd1	T	A	2: 77,022,137 (GRCm39)	D518V	probably damaging	Het
Setd2	C	T	9: 110,423,310 (GRCm39)	P344S	probably damaging	Het
Slc22a1	A	T	17: 12,875,828 (GRCm39)	I462N	probably damaging	Het
Slc6a1	G	A	6: 114,279,761 (GRCm39)	V142I	probably benign	Het
Tbc1d14	G	T	5: 36,728,643 (GRCm39)	T241K	possibly damaging	Het
Uaca	T	C	9: 60,779,141 (GRCm39)	L1176P	possibly damaging	Het
Ube2g1	G	C	11: 72,563,791 (GRCm39)	G52A	probably damaging	Het
Utrn	A	G	10: 12,259,934 (GRCm39)	*957R	probably null	Het
Vmn2r125	A	T	4: 156,703,153 (GRCm39)	E177V	probably damaging	Het
Vmn2r86	A	G	10: 130,282,723 (GRCm39)	F631S	probably damaging	Het
Zc3h13	T	A	14: 75,529,626 (GRCm39)	C42*	probably null	Het
Zc3h14	T	G	12: 98,730,082 (GRCm39)	V13G	probably damaging	Het
Zfat	A	T	15: 68,052,141 (GRCm39)	V551D	probably benign	Het
Zfp618	C	T	4: 63,004,809 (GRCm39)	R70W	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
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
R3975:Bfsp2	UTSW	9	103,357,271 (GRCm39)	missense	probably benign	0.00
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'- AGGTCCTCAACAGTAGTGTGATCCC -3'
(R):5'- TCTTCCAGCTCAATGAATGCCCG -3'

Sequencing Primer
(F):5'- AACAGTAGTGTGATCCCTTTCTG -3'
(R):5'- TTCCAGAGAGGCCCATGAC -3'

Posted On

2013-05-23