Mutagenetix > Incidental Mutation

Incidental Mutation 'R5457:Best3'

432832

Institutional Source

Beutler Lab

Gene Symbol

Best3

Ensembl Gene

ENSMUSG00000020169

Gene Name

bestrophin 3

Synonyms

mBest4, Vmd2l3

MMRRC Submission

043020-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R5457 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116822219-116860945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116840416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 282 (F282S)

Ref Sequence

ENSEMBL: ENSMUSP00000020378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020378]

AlphaFold

Q6H1V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000020378
AA Change: F282S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020378
Gene: ENSMUSG00000020169
AA Change: F282S

Domain	Start	End	E-Value	Type
Pfam:Bestrophin	8	316	7.3e-115	PFAM
low complexity region	405	416	N/A	INTRINSIC
low complexity region	473	492	N/A	INTRINSIC
low complexity region	561	576	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	C	A	8: 87,236,473 (GRCm39)	V1114L	probably benign	Het
Actr5	G	A	2: 158,477,918 (GRCm39)		probably null	Het
Adcy7	T	C	8: 89,037,649 (GRCm39)	L239P	probably damaging	Het
Afg3l1	T	A	8: 124,216,707 (GRCm39)	F315L	possibly damaging	Het
Agps	A	G	2: 75,684,596 (GRCm39)	Y188C	probably benign	Het
Akt1	T	C	12: 112,623,525 (GRCm39)	T312A	probably damaging	Het
Ang2	T	C	14: 51,433,292 (GRCm39)	Y30C	probably damaging	Het
Angpt1	G	A	15: 42,386,916 (GRCm39)	T146I	probably damaging	Het
Atg16l1	T	C	1: 87,702,813 (GRCm39)	S288P	probably damaging	Het
Atp1b2	C	T	11: 69,493,558 (GRCm39)	G4R	probably damaging	Het
Cdkn2b	A	G	4: 89,225,391 (GRCm39)	L98P	probably damaging	Het
Cenps	A	G	4: 149,216,094 (GRCm39)		probably null	Het
Clec16a	G	T	16: 10,363,396 (GRCm39)		probably null	Het
Cxcl13	A	T	5: 96,104,830 (GRCm39)	M1L	unknown	Het
Dcun1d4	A	T	5: 73,688,908 (GRCm39)	E149D	probably damaging	Het
Dlst	G	A	12: 85,168,914 (GRCm39)		probably null	Het
Dock10	C	A	1: 80,501,781 (GRCm39)	C1803F	probably damaging	Het
Dpp10	T	A	1: 123,339,539 (GRCm39)	K329N	possibly damaging	Het
Drosha	T	G	15: 12,926,115 (GRCm39)	Y1235D	probably benign	Het
Eif2s3y	G	A	Y: 1,016,057 (GRCm39)	G213D	probably damaging	Homo
Eps8	A	T	6: 137,489,175 (GRCm39)	S408T	probably damaging	Het
Fam171a2	T	C	11: 102,328,362 (GRCm39)	D799G	possibly damaging	Het
Fcho2	T	C	13: 98,926,275 (GRCm39)	K103E	probably damaging	Het
Fcrlb	T	C	1: 170,739,726 (GRCm39)	T59A	probably damaging	Het
Fgd4	T	C	16: 16,279,873 (GRCm39)	R395G	probably benign	Het
Gm14496	A	T	2: 181,639,401 (GRCm39)	D497V	probably damaging	Het
Gpt2	A	C	8: 86,238,967 (GRCm39)	N267H	possibly damaging	Het
Grb14	A	T	2: 64,747,442 (GRCm39)	C43S	probably damaging	Het
Hjurp	T	TN	1: 88,194,247 (GRCm39)		probably null	Het
Igkv8-16	A	G	6: 70,363,689 (GRCm39)	V111A	possibly damaging	Het
Klra2	T	A	6: 131,198,852 (GRCm39)	S230C	possibly damaging	Het
Lamb3	G	A	1: 193,008,302 (GRCm39)	R245H	probably damaging	Het
Lamc3	A	G	2: 31,821,997 (GRCm39)	E1315G	probably benign	Het
Lpin2	A	G	17: 71,550,367 (GRCm39)	T672A	probably damaging	Het
Mcoln3	T	A	3: 145,833,877 (GRCm39)	I139N	probably benign	Het
Mcpt8	C	T	14: 56,319,793 (GRCm39)	C219Y	probably benign	Het
Mtcl3	A	C	10: 29,072,720 (GRCm39)	I671L	probably benign	Het
Mug2	G	T	6: 122,026,688 (GRCm39)	G541*	probably null	Het
Myo7b	G	T	18: 32,104,503 (GRCm39)		probably null	Het
Or10j2	C	T	1: 173,098,141 (GRCm39)	S133L	probably benign	Het
Or10j7	A	G	1: 173,011,180 (GRCm39)	S274P	probably damaging	Het
Or5ac22	T	C	16: 59,135,213 (GRCm39)	I186V	probably benign	Het
Or5k8	A	T	16: 58,644,796 (GRCm39)	I92N	probably damaging	Het
Or7e176	A	T	9: 20,171,574 (GRCm39)	Y146F	probably damaging	Het
Pclo	C	T	5: 14,726,157 (GRCm39)		probably benign	Het
Pdk2	C	T	11: 94,919,408 (GRCm39)	S289N	probably damaging	Het
Pex19	G	T	1: 171,958,245 (GRCm39)	G75W	probably damaging	Het
Psma3	T	G	12: 71,031,339 (GRCm39)	S26A	probably benign	Het
Pth1r	A	T	9: 110,555,522 (GRCm39)	I326N	possibly damaging	Het
Sbf2	T	C	7: 109,912,037 (GRCm39)	T1670A	probably benign	Het
Scn10a	A	G	9: 119,523,193 (GRCm39)	Y67H	probably damaging	Het
Sec16a	A	T	2: 26,330,280 (GRCm39)	D578E	probably benign	Het
Spta1	C	T	1: 174,044,759 (GRCm39)	A1465V	probably damaging	Het
Taar9	A	G	10: 23,985,003 (GRCm39)	F144L	probably damaging	Het
Tal1	T	C	4: 114,925,777 (GRCm39)	V282A	probably benign	Het
Tbrg4	C	T	11: 6,570,947 (GRCm39)	R175Q	probably damaging	Het
Tdp1	C	T	12: 99,861,005 (GRCm39)	Q215*	probably null	Het
Thsd4	A	T	9: 59,887,060 (GRCm39)	W921R	probably damaging	Het
Trrap	A	G	5: 144,786,787 (GRCm39)	E3462G	probably damaging	Het
Try4	T	C	6: 41,280,355 (GRCm39)	S60P	probably damaging	Het
Ttn	T	C	2: 76,541,265 (GRCm39)	E25580G	probably damaging	Het
Ttn	A	T	2: 76,776,299 (GRCm39)	I1581N	possibly damaging	Het
Vmn2r50	T	C	7: 9,781,873 (GRCm39)	T291A	probably damaging	Het
Zkscan14	T	C	5: 145,138,169 (GRCm39)	D106G	probably benign	Het

Other mutations in Best3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Best3	APN	10	116,824,632 (GRCm39)	missense	probably damaging	1.00
IGL00158:Best3	APN	10	116,840,446 (GRCm39)	splice site	probably benign
IGL02493:Best3	APN	10	116,860,506 (GRCm39)	missense	possibly damaging	0.95
IGL02713:Best3	APN	10	116,860,434 (GRCm39)	missense	probably benign	0.00
IGL03178:Best3	APN	10	116,824,684 (GRCm39)	missense	probably damaging	1.00
IGL03355:Best3	APN	10	116,829,010 (GRCm39)	missense	possibly damaging	0.82
R0531:Best3	UTSW	10	116,840,280 (GRCm39)	splice site	probably benign
R0578:Best3	UTSW	10	116,844,904 (GRCm39)	missense	probably benign	0.06
R1671:Best3	UTSW	10	116,860,573 (GRCm39)	missense	possibly damaging	0.58
R1769:Best3	UTSW	10	116,859,883 (GRCm39)	missense	probably benign	0.00
R1860:Best3	UTSW	10	116,829,178 (GRCm39)	missense	probably damaging	1.00
R1935:Best3	UTSW	10	116,860,291 (GRCm39)	missense	probably benign
R2103:Best3	UTSW	10	116,838,499 (GRCm39)	missense	probably benign	0.01
R3942:Best3	UTSW	10	116,824,579 (GRCm39)	missense	possibly damaging	0.49
R4260:Best3	UTSW	10	116,860,131 (GRCm39)	missense	probably benign
R4332:Best3	UTSW	10	116,838,429 (GRCm39)	missense	probably benign	0.37
R4741:Best3	UTSW	10	116,859,901 (GRCm39)	missense	probably benign	0.06
R4760:Best3	UTSW	10	116,860,699 (GRCm39)	missense	probably benign	0.00
R4896:Best3	UTSW	10	116,860,460 (GRCm39)	missense	probably benign	0.00
R4912:Best3	UTSW	10	116,844,886 (GRCm39)	missense	probably damaging	1.00
R5023:Best3	UTSW	10	116,824,647 (GRCm39)	missense	probably benign	0.06
R5087:Best3	UTSW	10	116,844,907 (GRCm39)	missense	probably benign	0.01
R5213:Best3	UTSW	10	116,860,377 (GRCm39)	missense	probably benign	0.01
R5928:Best3	UTSW	10	116,843,532 (GRCm39)	missense	probably damaging	1.00
R5982:Best3	UTSW	10	116,840,322 (GRCm39)	missense	probably damaging	0.98
R6335:Best3	UTSW	10	116,838,556 (GRCm39)	missense	probably benign	0.32
R7068:Best3	UTSW	10	116,824,543 (GRCm39)	missense	probably damaging	1.00
R7469:Best3	UTSW	10	116,840,290 (GRCm39)	missense	probably damaging	1.00
R8139:Best3	UTSW	10	116,840,331 (GRCm39)	missense	probably damaging	1.00
R8306:Best3	UTSW	10	116,838,515 (GRCm39)	missense	probably damaging	1.00
R8715:Best3	UTSW	10	116,828,971 (GRCm39)	missense	probably damaging	1.00
R8847:Best3	UTSW	10	116,824,572 (GRCm39)	missense	possibly damaging	0.83
R9104:Best3	UTSW	10	116,860,680 (GRCm39)	missense	probably benign
R9506:Best3	UTSW	10	116,839,826 (GRCm39)	missense	probably damaging	0.99
R9579:Best3	UTSW	10	116,829,100 (GRCm39)	missense	probably damaging	0.96
R9635:Best3	UTSW	10	116,838,450 (GRCm39)	missense	probably damaging	0.99
RF014:Best3	UTSW	10	116,840,410 (GRCm39)	missense	probably damaging	1.00
Z1088:Best3	UTSW	10	116,860,075 (GRCm39)	missense	probably benign	0.00
Z1176:Best3	UTSW	10	116,860,527 (GRCm39)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- ACACTTTGCATGGACGCCAG -3'
(R):5'- TAATGAACCGCCTCAGACCG -3'

Sequencing Primer
(F):5'- ATGGACGCCAGCACTGTG -3'
(R):5'- CTTGATGGAAAAGCACTCACGTCTG -3'

Posted On

2016-10-06