Mutagenetix > Incidental Mutation

Incidental Mutation 'R2139:Bfsp2'

236049

Institutional Source

Beutler Lab

Gene Symbol

Bfsp2

Ensembl Gene

ENSMUSG00000032556

Gene Name

beaded filament structural protein 2, phakinin

Synonyms

CP49

MMRRC Submission

040142-MU

Accession Numbers

Essential gene?

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

Stock #

R2139 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103302123-103357608 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103327074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 221 (K221R)

Ref Sequence

ENSEMBL: ENSMUSP00000116249 (fasta)

Gene Model

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

AlphaFold

Q6NVD9

Predicted Effect

probably benign
Transcript: ENSMUST00000124310
AA Change: K221R

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000116249
Gene: ENSMUSG00000032556
AA Change: K221R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136636

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143564

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145185

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216140

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,215,593 (GRCm39)	F318I	probably damaging	Het
Cacna1b	A	C	2: 24,569,485 (GRCm39)	M813R	probably benign	Het
Chaf1a	T	C	17: 56,372,226 (GRCm39)	L798P	probably damaging	Het
Chd8	G	A	14: 52,474,428 (GRCm39)	T201I	probably benign	Het
Col23a1	T	C	11: 51,464,861 (GRCm39)	S436P	probably benign	Het
Cubn	T	C	2: 13,340,978 (GRCm39)	I2248V	probably benign	Het
Cyp4f39	A	G	17: 32,710,163 (GRCm39)	I440M	probably benign	Het
Dhcr24	G	T	4: 106,429,499 (GRCm39)	E191*	probably null	Het
Dlg5	T	C	14: 24,220,612 (GRCm39)	D522G	probably damaging	Het
Dnaja4	A	T	9: 54,616,506 (GRCm39)	M170L	probably benign	Het
Dop1b	T	C	16: 93,567,895 (GRCm39)	S1441P	possibly damaging	Het
Efcab3	C	T	11: 104,642,737 (GRCm39)	T1120I	possibly damaging	Het
Egr2	T	A	10: 67,376,702 (GRCm39)	S383T	probably damaging	Het
Elovl1	A	G	4: 118,288,303 (GRCm39)	D94G	probably damaging	Het
Erbb4	A	G	1: 68,385,788 (GRCm39)	V267A	probably damaging	Het
Esp38	T	A	17: 40,264,275 (GRCm39)	I11N	probably damaging	Het
Esrrb	T	C	12: 86,468,740 (GRCm39)		probably null	Het
Fbxo24	A	T	5: 137,611,327 (GRCm39)	S488T	probably damaging	Het
Fgfr1	T	G	8: 26,060,882 (GRCm39)	V618G	probably damaging	Het
Gak	C	T	5: 108,754,743 (GRCm39)		probably null	Het
Gpr61	A	T	3: 108,058,077 (GRCm39)	C195S	probably damaging	Het
Greb1l	A	C	18: 10,555,011 (GRCm39)	N1686H	probably damaging	Het
Hapln4	T	C	8: 70,540,788 (GRCm39)	F274L	probably benign	Het
Hoxc10	A	T	15: 102,875,912 (GRCm39)	Q207L	probably benign	Het
Hspa12a	A	G	19: 58,787,914 (GRCm39)	V636A	probably benign	Het
Il22ra2	T	A	10: 19,508,618 (GRCm39)	F215L	probably benign	Het
Il36b	A	G	2: 24,044,672 (GRCm39)	N24S	probably benign	Het
Kank1	G	A	19: 25,389,117 (GRCm39)	G930D	probably benign	Het
Kif13a	T	C	13: 46,905,945 (GRCm39)	D666G	possibly damaging	Het
Krt86	A	T	15: 101,371,639 (GRCm39)	I70F	probably benign	Het
Lgi4	A	T	7: 30,762,548 (GRCm39)	I112F	probably damaging	Het
Lrrc8c	T	G	5: 105,754,558 (GRCm39)	I111S	probably damaging	Het
Ltbp2	T	C	12: 84,862,753 (GRCm39)	N600S	probably damaging	Het
Mbd3l2	A	T	9: 18,356,254 (GRCm39)	D193V	probably damaging	Het
Mroh5	T	A	15: 73,661,940 (GRCm39)	D417V	probably damaging	Het
Ms4a18	A	T	19: 10,974,695 (GRCm39)	V332D	possibly damaging	Het
Mtarc1	G	A	1: 184,527,632 (GRCm39)	T276I	probably benign	Het
Muc4	T	A	16: 32,581,599 (GRCm39)	I2488N	unknown	Het
Myrf	C	G	19: 10,193,831 (GRCm39)	A532P	probably damaging	Het
Nav3	T	C	10: 109,688,996 (GRCm39)	N427S	probably benign	Het
Neb	T	C	2: 52,102,600 (GRCm39)	S4315G	probably damaging	Het
Nyap2	A	G	1: 81,218,983 (GRCm39)	D335G	probably damaging	Het
Olfm4	T	C	14: 80,251,755 (GRCm39)	L225P	probably benign	Het
Or10z1	A	T	1: 174,078,302 (GRCm39)		probably null	Het
Or4c104	T	A	2: 88,586,437 (GRCm39)	N194I	probably damaging	Het
Or51ac3	A	T	7: 103,213,961 (GRCm39)	I175K	possibly damaging	Het
Or8s2	T	C	15: 98,276,145 (GRCm39)	N282S	probably damaging	Het
Pcdhac2	T	G	18: 37,279,139 (GRCm39)	Y706*	probably null	Het
Pgbd1	A	G	13: 21,607,190 (GRCm39)	S335P	probably damaging	Het
Pkhd1l1	A	C	15: 44,393,214 (GRCm39)	I1850L	possibly damaging	Het
Pogz	T	C	3: 94,778,318 (GRCm39)	V304A	possibly damaging	Het
Rap1a	T	C	3: 105,646,856 (GRCm39)	I100V	probably damaging	Het
Slc4a4	A	T	5: 89,194,123 (GRCm39)	K201M	probably damaging	Het
Slc6a1	T	C	6: 114,281,022 (GRCm39)	F8S	possibly damaging	Het
St18	T	G	1: 6,880,839 (GRCm39)	M444R	possibly damaging	Het
Syna	G	T	5: 134,588,106 (GRCm39)	S281*	probably null	Het
Tgm1	A	G	14: 55,947,000 (GRCm39)	V336A	probably damaging	Het
Tle6	G	T	10: 81,429,868 (GRCm39)	T400K	probably damaging	Het
Tmem181a	T	C	17: 6,348,481 (GRCm39)	W328R	probably damaging	Het
Trim7	T	C	11: 48,729,721 (GRCm39)	F193L	probably benign	Het
Txndc16	A	T	14: 45,410,046 (GRCm39)	M178K	probably damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Vmn1r74	A	G	7: 11,581,243 (GRCm39)	Y181C	probably damaging	Het
Vmn2r56	T	A	7: 12,446,890 (GRCm39)	K421*	probably null	Het
Vwa7	T	G	17: 35,242,406 (GRCm39)	S503R	probably benign	Het
Washc5	G	A	15: 59,221,991 (GRCm39)	T135M	probably damaging	Het
Wdr6	T	C	9: 108,451,322 (GRCm39)	I854V	probably benign	Het
Zfp507	A	G	7: 35,493,148 (GRCm39)	C632R	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
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'- TTGAGCCCCAGTGAAGAGTC -3'
(R):5'- CAAAGCTACTGGAACACTGGC -3'

Sequencing Primer
(F):5'- GTCCCCAAGACCTGTGTTACAAG -3'
(R):5'- GCTGCCTATTACATGTGGGCC -3'

Posted On

2014-10-01