Mutagenetix > Incidental Mutation

Incidental Mutation 'R1671:Best3'

187623

Institutional Source

Beutler Lab

Gene Symbol

Best3

Ensembl Gene

ENSMUSG00000020169

Gene Name

bestrophin 3

Synonyms

mBest4, Vmd2l3

MMRRC Submission

039707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R1671 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116822219-116860945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116860573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 611 (D611V)

Ref Sequence

ENSEMBL: ENSMUSP00000020378 (fasta)

Gene Model

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

AlphaFold

Q6H1V1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020378
AA Change: D611V

PolyPhen 2 Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020378
Gene: ENSMUSG00000020169
AA Change: D611V

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

Meta Mutation Damage Score

0.0676

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

100% (70/70)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	C	14: 64,210,637 (GRCm39)	L197R	probably benign	Het
Arglu1	A	G	8: 8,733,896 (GRCm39)	V140A	possibly damaging	Het
Arhgef28	T	C	13: 98,067,542 (GRCm39)	E1461G	possibly damaging	Het
Cenpf	T	C	1: 189,411,341 (GRCm39)		probably null	Het
Cenpj	A	C	14: 56,802,502 (GRCm39)	M21R	probably damaging	Het
Cltc	A	T	11: 86,623,421 (GRCm39)	H201Q	possibly damaging	Het
Col28a1	A	T	6: 8,083,773 (GRCm39)	N561K	possibly damaging	Het
Cyp2c70	G	A	19: 40,142,081 (GRCm39)	P470L	probably damaging	Het
Cyp4f14	G	A	17: 33,135,883 (GRCm39)		probably benign	Het
Ddi1	A	T	9: 6,266,225 (GRCm39)	V48D	possibly damaging	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Dnah9	A	G	11: 65,818,789 (GRCm39)	V3183A	probably damaging	Het
Elmo1	T	A	13: 20,472,054 (GRCm39)		probably benign	Het
Fap	T	A	2: 62,384,179 (GRCm39)	Y9F	possibly damaging	Het
Fbxo15	T	A	18: 84,977,231 (GRCm39)	S93T	possibly damaging	Het
Gal3st2	C	T	1: 93,801,400 (GRCm39)	R19C	probably damaging	Het
Gmnn	A	T	13: 24,936,054 (GRCm39)	*207R	probably null	Het
Gucy1a1	A	C	3: 82,013,529 (GRCm39)	I371S	probably damaging	Het
H1f11-ps	C	A	19: 47,159,294 (GRCm39)	V94L	possibly damaging	Het
Igsf10	G	T	3: 59,235,921 (GRCm39)	S1420*	probably null	Het
Itih5	G	T	2: 10,191,782 (GRCm39)	V106L	probably benign	Het
Itsn1	T	A	16: 91,609,038 (GRCm39)	I201K	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lars2	C	T	9: 123,247,344 (GRCm39)	T283I	probably benign	Het
Loxhd1	T	C	18: 77,492,498 (GRCm39)	I1313T	probably damaging	Het
Mamdc4	T	A	2: 25,458,235 (GRCm39)	R368*	probably null	Het
Mdga1	A	T	17: 30,069,603 (GRCm39)	Y422N	probably damaging	Het
Mro	A	T	18: 74,003,126 (GRCm39)		probably benign	Het
Mroh2b	T	C	15: 4,980,776 (GRCm39)		probably null	Het
Nlrp1b	C	A	11: 71,092,085 (GRCm39)	V14L	probably benign	Het
Nos3	A	G	5: 24,588,838 (GRCm39)	D1157G	probably damaging	Het
Nrxn2	C	A	19: 6,523,780 (GRCm39)	R598S	probably damaging	Het
Or2av9	A	T	11: 58,381,435 (GRCm39)	W49R	possibly damaging	Het
Or4k1	T	C	14: 50,377,290 (GRCm39)	K269E	probably damaging	Het
Or52ae9	C	A	7: 103,389,617 (GRCm39)	A277S	possibly damaging	Het
Or8b101	A	G	9: 38,020,428 (GRCm39)	M144V	probably benign	Het
Otog	A	T	7: 45,911,210 (GRCm39)	D687V	probably damaging	Het
Pcsk5	C	T	19: 17,432,232 (GRCm39)	C1461Y	probably damaging	Het
Raet1d	A	G	10: 22,238,614 (GRCm39)	M1V	probably null	Het
Rnf6	A	T	5: 146,147,998 (GRCm39)	L340*	probably null	Het
Rsl1d1	T	C	16: 11,019,245 (GRCm39)	T99A	probably damaging	Het
Sbno1	A	T	5: 124,530,130 (GRCm39)		probably null	Het
Sipa1l1	A	G	12: 82,444,235 (GRCm39)	Y982C	probably damaging	Het
Sorbs3	G	T	14: 70,428,915 (GRCm39)	R417S	possibly damaging	Het
Sorl1	A	G	9: 41,885,296 (GRCm39)	C2102R	probably damaging	Het
Sp140l2	C	T	1: 85,235,106 (GRCm39)		probably null	Het
Sptbn1	T	A	11: 30,092,245 (GRCm39)	I494F	possibly damaging	Het
Tank	T	A	2: 61,480,097 (GRCm39)	V211E	probably damaging	Het
Tbcd	T	A	11: 121,488,120 (GRCm39)	D840E	probably benign	Het
Tg	T	A	15: 66,564,236 (GRCm39)	C1146S	possibly damaging	Het
Tiam2	A	T	17: 3,557,109 (GRCm39)	E110V	probably damaging	Het
Tle4	A	T	19: 14,431,103 (GRCm39)	W560R	probably damaging	Het
Triml2	G	A	8: 43,636,780 (GRCm39)	R76H	possibly damaging	Het
Ttn	T	C	2: 76,541,964 (GRCm39)	E25347G	probably damaging	Het
Ube2e2	A	G	14: 18,586,889 (GRCm38)	L124P	probably damaging	Het
Vmn2r81	A	G	10: 79,103,265 (GRCm39)	K153E	probably benign	Het
Wnt16	A	T	6: 22,298,178 (GRCm39)	Y348F	probably damaging	Het
Xpo6	A	G	7: 125,707,715 (GRCm39)	V897A	possibly damaging	Het
Zbtb26	T	C	2: 37,326,377 (GRCm39)	T220A	probably benign	Het
Zik1	A	T	7: 10,224,675 (GRCm39)	S141T	probably damaging	Het
Zkscan3	A	G	13: 21,580,305 (GRCm39)	Y128H	possibly damaging	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
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
R5457:Best3	UTSW	10	116,840,416 (GRCm39)	missense	probably damaging	1.00
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'- TGAGGTCCTCCCCTACCAAAATGC -3'
(R):5'- CCCTGTGTGCTAGACAATGTGGATG -3'

Sequencing Primer
(F):5'- AGGTCCCTGAGGTCCTAATCAC -3'
(R):5'- GTTTGATCATAACGCCCTTCAGAG -3'

Posted On

2014-05-09