Mutagenetix > Incidental Mutation

Incidental Mutation 'R9515:Bfsp2'

718488

Institutional Source

Beutler Lab

Gene Symbol

Bfsp2

Ensembl Gene

ENSMUSG00000032556

Gene Name

beaded filament structural protein 2, phakinin

Synonyms

CP49

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9515 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103302123-103357608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103357251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 59 (V59L)

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

possibly damaging
Transcript: ENSMUST00000124310
AA Change: V59L

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116249
Gene: ENSMUSG00000032556
AA Change: V59L

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: 99.9%
10x: 99.7%
20x: 99.2%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aamdc	A	G	7: 97,224,808 (GRCm39)	V18A	probably benign	Het
Adam12	T	A	7: 133,509,373 (GRCm39)	I796F	probably benign	Het
Adcy7	T	A	8: 89,037,646 (GRCm39)	V238E	possibly damaging	Het
Adgrv1	G	A	13: 81,691,497 (GRCm39)	H1697Y	probably damaging	Het
Adrb1	A	G	19: 56,711,825 (GRCm39)	D341G	probably benign	Het
Akap13	T	C	7: 75,354,275 (GRCm39)	Y80H	probably benign	Het
Akap9	C	T	5: 4,105,709 (GRCm39)	L2927F	probably damaging	Het
Alox8	T	A	11: 69,075,950 (GRCm39)	D667V	probably damaging	Het
Arhgap30	A	G	1: 171,236,002 (GRCm39)	E792G	probably benign	Het
Arhgef16	A	G	4: 154,365,432 (GRCm39)	V561A	possibly damaging	Het
Bcap29	A	T	12: 31,676,756 (GRCm39)	Y105N	probably damaging	Het
Best2	T	A	8: 85,740,147 (GRCm39)	T6S		Het
Brd3	T	A	2: 27,349,815 (GRCm39)	D246V		Het
Btnl1	T	A	17: 34,600,118 (GRCm39)	V207E	probably benign	Het
Ccdc122	T	A	14: 77,329,408 (GRCm39)	Y154N		Het
Cfap43	A	G	19: 47,773,814 (GRCm39)	Y656H	probably damaging	Het
Clca3a2	A	T	3: 144,508,808 (GRCm39)	Y670*	probably null	Het
Coprs	T	C	8: 13,935,081 (GRCm39)	Y158C	probably damaging	Het
Desi2	T	G	1: 178,084,170 (GRCm39)	M106R	unknown	Het
Dnaaf3	T	C	7: 4,531,100 (GRCm39)	E111G	probably damaging	Het
Epha10	T	A	4: 124,775,704 (GRCm39)	F13I	probably benign	Het
Fam193a	T	A	5: 34,615,371 (GRCm39)	F813L	possibly damaging	Het
Fbn1	C	A	2: 125,207,551 (GRCm39)	A981S	probably benign	Het
Gga2	T	A	7: 121,611,448 (GRCm39)	T37S	probably damaging	Het
Glra3	T	A	8: 56,578,299 (GRCm39)	F452Y	probably damaging	Het
Gm10338	T	A	14: 19,280,438 (GRCm39)	N96I	probably damaging	Het
Gpd2	A	T	2: 57,195,866 (GRCm39)	E149V	possibly damaging	Het
Gpr137c	T	G	14: 45,516,229 (GRCm39)	L321*	probably null	Het
Gsdmc2	T	C	15: 63,702,678 (GRCm39)	I196M	probably benign	Het
Habp2	A	G	19: 56,295,253 (GRCm39)	D48G	probably benign	Het
Hdc	G	T	2: 126,458,149 (GRCm39)	P58T	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Hnrnpr	G	T	4: 136,063,615 (GRCm39)	V342F	probably damaging	Het
Hyal6	T	A	6: 24,734,929 (GRCm39)	Y287*	probably null	Het
Igsf8	T	C	1: 172,146,525 (GRCm39)	Y571H		Het
Kalrn	A	G	16: 33,854,864 (GRCm39)	S1999P	probably damaging	Het
Lama2	T	A	10: 26,877,170 (GRCm39)	N2672I	probably benign	Het
Lrrc7	T	C	3: 157,867,105 (GRCm39)	R879G	probably damaging	Het
Lrwd1	T	G	5: 136,160,413 (GRCm39)	H307P	probably benign	Het
Mau2	T	C	8: 70,480,153 (GRCm39)	Y318C	probably damaging	Het
Med13	T	C	11: 86,199,727 (GRCm39)	Q660R	probably benign	Het
Mepce	G	C	5: 137,783,759 (GRCm39)	P189R	probably damaging	Het
Mical3	T	A	6: 121,001,758 (GRCm39)	N578I	probably damaging	Het
Mug1	T	C	6: 121,861,635 (GRCm39)	S1366P	probably damaging	Het
Nol11	A	T	11: 107,064,278 (GRCm39)	D511E	possibly damaging	Het
Obscn	T	A	11: 58,994,340 (GRCm39)	H1514L	probably benign	Het
Onecut3	C	A	10: 80,331,887 (GRCm39)	S349*	probably null	Het
Or2l13b	C	T	16: 19,349,026 (GRCm39)	A215T	probably benign	Het
Or4f57	A	G	2: 111,790,584 (GRCm39)	V278A	possibly damaging	Het
Or5ap2b-ps1	A	T	2: 85,693,922 (GRCm39)	I56F	probably damaging	Het
Or5b110-ps1	G	A	19: 13,259,558 (GRCm39)	T288I	unknown	Het
Or7e169	A	G	9: 19,757,816 (GRCm39)	L33P	possibly damaging	Het
Or7g34	T	C	9: 19,478,396 (GRCm39)	I95V	possibly damaging	Het
Or8g18	T	C	9: 39,149,625 (GRCm39)	T32A	probably benign	Het
Patl2	C	T	2: 121,955,374 (GRCm39)	G297E	probably benign	Het
Pdlim5	G	A	3: 142,010,111 (GRCm39)	T168M	probably damaging	Het
Pdzd2	A	C	15: 12,374,621 (GRCm39)	L1838R	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pkd1l3	T	C	8: 110,395,849 (GRCm39)	V2083A	probably damaging	Het
Pkhd1	T	A	1: 20,637,741 (GRCm39)	Y348F	probably damaging	Het
Plekhg5	T	A	4: 152,198,826 (GRCm39)	S1005T	probably benign	Het
Ppp4r1	T	A	17: 66,142,073 (GRCm39)	N709K	probably null	Het
Pramel32	T	A	4: 88,546,219 (GRCm39)	L374F	possibly damaging	Het
Pramel40	G	A	5: 94,464,924 (GRCm39)	V437I	probably benign	Het
Reln	T	C	5: 22,125,508 (GRCm39)	D2725G	possibly damaging	Het
Rnf41	T	A	10: 128,274,299 (GRCm39)	I317K	probably benign	Het
Rxfp2	T	C	5: 149,979,444 (GRCm39)	V268A	possibly damaging	Het
Sema5a	A	G	15: 32,679,373 (GRCm39)	H884R	probably damaging	Het
Serpinh1	A	T	7: 98,996,484 (GRCm39)	M236K	probably damaging	Het
Sh3pxd2a	A	G	19: 47,255,610 (GRCm39)	L1064P	probably damaging	Het
Skint6	T	C	4: 112,715,375 (GRCm39)	H947R	probably benign	Het
Slc12a3	T	A	8: 95,083,658 (GRCm39)	M895K	possibly damaging	Het
Slc22a3	C	A	17: 12,726,057 (GRCm39)	R52L	probably damaging	Het
Slc38a1	A	G	15: 96,487,965 (GRCm39)	L180P	probably damaging	Het
Slc4a3	T	C	1: 75,533,612 (GRCm39)	V1078A	probably damaging	Het
Snx30	T	A	4: 59,879,241 (GRCm39)	V160E	probably damaging	Het
Spata18	A	T	5: 73,829,840 (GRCm39)	I332F		Het
Stard9	C	G	2: 120,534,564 (GRCm39)	P3607R	probably damaging	Het
Svep1	T	A	4: 58,084,144 (GRCm39)	Y1876F	possibly damaging	Het
Sytl1	A	G	4: 132,986,291 (GRCm39)		probably null	Het
Tacc2	A	C	7: 130,366,041 (GRCm39)	K567Q	probably damaging	Het
Tfr2	A	G	5: 137,575,769 (GRCm39)	D295G	possibly damaging	Het
Tmem53	C	A	4: 117,125,122 (GRCm39)	H78Q	probably benign	Het
Tnnt2	G	A	1: 135,768,640 (GRCm39)	E10K	unknown	Het
Top2a	T	A	11: 98,902,970 (GRCm39)	I406F	probably damaging	Het
Ttc1	C	A	11: 43,621,305 (GRCm39)	R292I		Het
Ubr1	T	G	2: 120,703,627 (GRCm39)	T1568P	probably damaging	Het
Usp25	T	G	16: 76,852,076 (GRCm39)	V197G	probably damaging	Het
Usp9y	A	T	Y: 1,432,188 (GRCm39)	N432K	probably benign	Het
Vmn2r26	T	A	6: 124,038,137 (GRCm39)	Y571N	probably damaging	Het
Zfp7	T	C	15: 76,775,484 (GRCm39)	S509P	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
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

Predicted Primers

PCR Primer
(F):5'- TATATTCCACTAGGCAGCCCC -3'
(R):5'- ATGCCCGAAGCTCATGGAAG -3'

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

Posted On

2022-07-18