Mutagenetix > Incidental Mutation

Incidental Mutation 'R7129:Bfsp2'

552530

Institutional Source

Beutler Lab

Gene Symbol

Bfsp2

Ensembl Gene

ENSMUSG00000032556

Gene Name

beaded filament structural protein 2, phakinin

Synonyms

CP49

MMRRC Submission

045214-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R7129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103302123-103357608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103357118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 103 (E103V)

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 damaging
Transcript: ENSMUST00000124310
AA Change: E103V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116249
Gene: ENSMUSG00000032556
AA Change: E103V

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (58/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,209,199 (GRCm39)	E443G	probably damaging	Het
2700049A03Rik	A	G	12: 71,263,004 (GRCm39)		probably null	Het
3110082I17Rik	A	G	5: 139,349,738 (GRCm39)	Y104H	probably damaging	Het
Abcg4	T	C	9: 44,190,681 (GRCm39)	K282E	probably benign	Het
Adamts17	T	C	7: 66,770,758 (GRCm39)	S956P	probably damaging	Het
Adh1	T	C	3: 137,986,235 (GRCm39)	V74A	probably damaging	Het
Akt1	A	T	12: 112,626,083 (GRCm39)	M63K	probably benign	Het
Arfrp1	G	A	2: 181,001,344 (GRCm39)	R177*	probably null	Het
Arl11	A	G	14: 61,548,346 (GRCm39)	E52G	possibly damaging	Het
BC051019	T	C	7: 109,319,825 (GRCm39)	S10G		Het
Bms1	G	T	6: 118,380,122 (GRCm39)	C728*	probably null	Het
Cachd1	T	G	4: 100,775,263 (GRCm39)	N159K	probably null	Het
Cd38	A	G	5: 44,067,651 (GRCm39)	N294S	probably benign	Het
Cfap54	T	C	10: 92,852,433 (GRCm39)	N891S	probably benign	Het
Chsy3	A	T	18: 59,543,370 (GRCm39)	H836L	probably damaging	Het
Cldn16	A	T	16: 26,301,388 (GRCm39)	D232V	probably damaging	Het
Dhx33	A	T	11: 70,884,689 (GRCm39)	I425N	probably damaging	Het
Dock4	A	G	12: 40,878,878 (GRCm39)	N1506D	probably damaging	Het
Dok7	T	C	5: 35,236,392 (GRCm39)	S227P	probably damaging	Het
Elf2	T	C	3: 51,168,432 (GRCm39)	R201G	probably damaging	Het
Elp1	T	C	4: 56,787,944 (GRCm39)	H329R	probably damaging	Het
Etaa1	T	C	11: 17,890,339 (GRCm39)	R841G	possibly damaging	Het
Exoc4	T	C	6: 33,948,934 (GRCm39)	Y926H	probably damaging	Het
Fras1	A	G	5: 96,929,143 (GRCm39)	H3849R	probably benign	Het
Hapln3	C	T	7: 78,771,572 (GRCm39)	G106R	probably damaging	Het
Hmcn1	A	C	1: 150,452,961 (GRCm39)		probably null	Het
Ifitm7	A	T	16: 13,801,600 (GRCm39)	I53N	possibly damaging	Het
Il6ra	T	C	3: 89,778,554 (GRCm39)	N433D	probably damaging	Het
Iqch	C	T	9: 63,329,191 (GRCm39)	V1048I	probably benign	Het
Kif20a	A	G	18: 34,765,588 (GRCm39)	T862A	probably benign	Het
Mcrs1	G	A	15: 99,146,609 (GRCm39)	L141F	probably damaging	Het
Nkx3-2	A	G	5: 41,919,017 (GRCm39)	S324P	probably damaging	Het
Nmi	A	T	2: 51,845,936 (GRCm39)		probably null	Het
Nufip1	A	G	14: 76,372,325 (GRCm39)	K480E	possibly damaging	Het
Oit3	T	A	10: 59,264,166 (GRCm39)	I323F	probably damaging	Het
Or2ag17	T	C	7: 106,389,690 (GRCm39)	K173E	probably benign	Het
Or5b98	A	T	19: 12,931,478 (GRCm39)	H175L	possibly damaging	Het
Pcdha11	A	G	18: 37,140,291 (GRCm39)	E640G	probably benign	Het
Phip	C	T	9: 82,759,353 (GRCm39)	V1366I	probably damaging	Het
Plin5	T	C	17: 56,422,174 (GRCm39)	M162V	probably null	Het
Podxl2	A	G	6: 88,820,487 (GRCm39)		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,582 (GRCm39)		probably benign	Het
Rab4a	A	T	8: 124,554,069 (GRCm39)	D40V	probably benign	Het
Scn7a	A	G	2: 66,530,537 (GRCm39)	F603L	probably benign	Het
Slfn5	A	T	11: 82,851,976 (GRCm39)	K701*	probably null	Het
Speer4f2	A	G	5: 17,582,446 (GRCm39)	D223G		Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Tas2r117	A	T	6: 132,780,350 (GRCm39)	T163S	probably benign	Het
Tecta	T	C	9: 42,259,287 (GRCm39)	D1532G	probably damaging	Het
Tmem63a	T	C	1: 180,782,441 (GRCm39)	I146T	probably damaging	Het
Ttn	C	A	2: 76,646,515 (GRCm39)	G12844W	probably damaging	Het
Usp22	T	C	11: 61,053,775 (GRCm39)	I190V	probably damaging	Het
Usp24	T	C	4: 106,219,412 (GRCm39)	I536T	probably damaging	Het
Vmn1r23	A	G	6: 57,903,061 (GRCm39)	V239A	possibly damaging	Het
Vmn1r9	A	C	6: 57,048,611 (GRCm39)	T229P	probably damaging	Het
Zbtb21	AGCTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGC	16: 97,752,887 (GRCm39)		probably benign	Het
Zbtb8a	G	C	4: 129,254,188 (GRCm39)	A102G	probably damaging	Het
Zfp51	T	C	17: 21,681,971 (GRCm39)	W57R	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
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
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'- TCTAGCAAGCCTCTAGACACAG -3'
(R):5'- TCAGGGGAACACACTCTCCATC -3'

Sequencing Primer
(F):5'- CTAGACACAGCTGGGGGACTTAC -3'
(R):5'- ATCCAGGACCAGTGCTGTG -3'

Posted On

2019-05-15