Mutagenetix > Incidental Mutation

Incidental Mutation 'R5213:Best3'

403279

Institutional Source

Beutler Lab

Gene Symbol

Best3

Ensembl Gene

ENSMUSG00000020169

Gene Name

bestrophin 3

Synonyms

mBest4, Vmd2l3

MMRRC Submission

042854-MU

Accession Numbers

Essential gene?

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

Stock #

R5213 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116822219-116860945 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116860377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 546 (T546S)

Ref Sequence

ENSEMBL: ENSMUSP00000020378 (fasta)

Gene Model

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

AlphaFold

Q6H1V1

Predicted Effect

probably benign
Transcript: ENSMUST00000020378
AA Change: T546S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000020378
Gene: ENSMUSG00000020169
AA Change: T546S

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	C	A	4: 86,303,865 (GRCm39)	H1342N	possibly damaging	Het
Adcy2	G	T	13: 68,768,942 (GRCm39)	T1062K	possibly damaging	Het
Aqr	T	C	2: 113,943,808 (GRCm39)	N1110S	probably damaging	Het
Atp10a	C	T	7: 58,423,731 (GRCm39)	T232I	probably damaging	Het
Atp5pb	T	A	3: 105,863,227 (GRCm39)	K70*	probably null	Het
Atp8b4	A	C	2: 126,231,329 (GRCm39)		probably null	Het
Atraid	A	C	5: 31,209,552 (GRCm39)	Q72P	probably damaging	Het
Atxn2	G	T	5: 121,952,543 (GRCm39)		probably null	Het
Brd3	T	C	2: 27,353,960 (GRCm39)	K51E	possibly damaging	Het
Brip1	A	G	11: 86,034,147 (GRCm39)	S525P	possibly damaging	Het
Cenpf	A	G	1: 189,387,177 (GRCm39)	I1701T	probably benign	Het
Chrna9	A	T	5: 66,128,427 (GRCm39)	K208*	probably null	Het
Clec2l	T	A	6: 38,657,127 (GRCm39)	C197S	probably damaging	Het
Crp	A	G	1: 172,526,086 (GRCm39)	H57R	probably benign	Het
Cyp27b1	C	A	10: 126,887,964 (GRCm39)	T492N	probably damaging	Het
Dock4	A	T	12: 40,726,741 (GRCm39)	I340F	probably damaging	Het
Dsg1b	A	T	18: 20,528,987 (GRCm39)	D241V	probably damaging	Het
Epg5	G	T	18: 78,058,049 (GRCm39)	V1865L	probably benign	Het
Erap1	A	G	13: 74,819,614 (GRCm39)		probably null	Het
Fat2	C	T	11: 55,144,658 (GRCm39)	C4072Y	probably benign	Het
Fat4	T	A	3: 39,034,340 (GRCm39)	I2664N	possibly damaging	Het
Gabrp	A	G	11: 33,517,211 (GRCm39)		probably null	Het
Glis2	G	T	16: 4,431,946 (GRCm39)		probably benign	Het
Gm17654	A	G	14: 43,816,559 (GRCm39)	S15P	probably damaging	Het
Gm21836	A	G	9: 124,252,736 (GRCm39)	V14A	unknown	Het
Gon7	G	A	12: 102,720,380 (GRCm39)	T84I	possibly damaging	Het
Greb1	G	T	12: 16,764,791 (GRCm39)	Y447*	probably null	Het
Grip2	A	T	6: 91,756,812 (GRCm39)	D546E	probably benign	Het
Hectd1	A	G	12: 51,849,316 (GRCm39)		probably null	Het
Il36a	T	A	2: 24,114,486 (GRCm39)	F120L	probably damaging	Het
Itga4	T	C	2: 79,150,920 (GRCm39)	V842A	probably benign	Het
Khsrp	G	A	17: 57,331,366 (GRCm39)	A404V	probably benign	Het
Map3k11	T	C	19: 5,740,669 (GRCm39)	V132A	probably damaging	Het
Mcub	A	C	3: 129,710,646 (GRCm39)	F262C	probably benign	Het
Msantd5f6	G	T	4: 73,319,571 (GRCm39)	Q302K	probably damaging	Het
Mysm1	A	T	4: 94,836,614 (GRCm39)	V732E	probably damaging	Het
Npr2	T	A	4: 43,640,673 (GRCm39)		probably null	Het
Or10d5	A	C	9: 39,861,389 (GRCm39)	I226S	probably damaging	Het
Or12d12	T	C	17: 37,610,942 (GRCm39)	I124V	probably damaging	Het
Or5k1b	T	C	16: 58,580,984 (GRCm39)	Y185C	probably damaging	Het
Oxgr1	G	T	14: 120,259,552 (GRCm39)	Y218*	probably null	Het
Paf1	A	G	7: 28,095,397 (GRCm39)	Q161R	possibly damaging	Het
Pck1	A	T	2: 172,997,878 (GRCm39)	K316*	probably null	Het
Plac8	T	A	5: 100,704,371 (GRCm39)	M109L	probably benign	Het
Plagl2	A	T	2: 153,074,239 (GRCm39)	C221S	probably damaging	Het
Polg	T	C	7: 79,103,846 (GRCm39)	D870G	probably damaging	Het
Polr2k	T	A	15: 36,175,143 (GRCm39)	M1K	probably null	Het
Prdm9	T	C	17: 15,775,416 (GRCm39)	H276R	probably damaging	Het
Resf1	C	A	6: 149,227,551 (GRCm39)	P199Q	possibly damaging	Het
Rgs12	T	A	5: 35,122,664 (GRCm39)	I149N	probably damaging	Het
Serpina3i	A	G	12: 104,231,914 (GRCm39)	I184V	probably benign	Het
Shank3	A	G	15: 89,417,481 (GRCm39)	E26G	possibly damaging	Het
Skil	T	C	3: 31,171,600 (GRCm39)	S575P	probably damaging	Het
Slc13a1	A	G	6: 24,108,158 (GRCm39)	L306P	probably damaging	Het
Slc20a1	G	T	2: 129,042,429 (GRCm39)	W166L	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Snrnp200	G	T	2: 127,073,661 (GRCm39)	G1353V	probably damaging	Het
Spata6l	A	T	19: 28,940,964 (GRCm39)	V50E	probably benign	Het
Sphkap	A	G	1: 83,258,224 (GRCm39)	I173T	probably damaging	Het
Stab2	A	T	10: 86,743,061 (GRCm39)	F1183I	probably damaging	Het
Stard9	A	G	2: 120,529,707 (GRCm39)	D1988G	probably damaging	Het
Tank	T	A	2: 61,480,292 (GRCm39)	I276N	probably benign	Het
Tcaf3	A	G	6: 42,568,401 (GRCm39)	W652R	probably damaging	Het
Tgm2	G	A	2: 157,984,980 (GRCm39)	T42I	possibly damaging	Het
Tnni2	G	T	7: 141,997,039 (GRCm39)		probably null	Het
Tns1	A	G	1: 73,992,771 (GRCm39)	S9P	probably damaging	Het
Tram1	T	C	1: 13,649,966 (GRCm39)	Y86C	probably damaging	Het
Trdv2-1	T	C	14: 54,183,863 (GRCm39)	S32P	probably benign	Het
Trim24	T	C	6: 37,934,010 (GRCm39)	I651T	probably damaging	Het
Trpm3	T	G	19: 22,674,818 (GRCm39)	Y72*	probably null	Het
Ube2o	G	A	11: 116,432,285 (GRCm39)	P894S	possibly damaging	Het
Ubr4	C	T	4: 139,129,877 (GRCm39)	R666*	probably null	Het
Ugt1a8	T	A	1: 88,015,845 (GRCm39)	L86*	probably null	Het
Usp32	T	A	11: 84,913,085 (GRCm39)	N941I	probably damaging	Het
Utrn	C	T	10: 12,512,504 (GRCm39)	V2322M	probably damaging	Het
Vmn1r184	A	T	7: 25,967,136 (GRCm39)	Y294F	probably damaging	Het
Vmn2r108	T	C	17: 20,691,755 (GRCm39)	N256S	probably benign	Het
Wdr7	T	C	18: 63,888,197 (GRCm39)	S557P	probably damaging	Het
Xrra1	C	A	7: 99,547,690 (GRCm39)	P293Q	possibly damaging	Het
Zc3h18	A	G	8: 123,110,388 (GRCm39)	D79G	probably damaging	Het
Zfp74	A	T	7: 29,634,668 (GRCm39)	Y347N	probably damaging	Het
Zfp740	T	C	15: 102,121,082 (GRCm39)	C169R	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
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
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'- AACTGTCCACCATCAGGGAG -3'
(R):5'- GACTCACAGGATCTGGACCTAAG -3'

Sequencing Primer
(F):5'- AGTCCAGCGTGAGGTCCTC -3'
(R):5'- AGGATCTGGACCTAAGTTTCCCAG -3'

Posted On

2016-07-22