Mutagenetix > Incidental Mutation

Incidental Mutation 'R0531:Best3'

49171

Institutional Source

Beutler Lab

Gene Symbol

Best3

Ensembl Gene

ENSMUSG00000020169

Gene Name

bestrophin 3

Synonyms

mBest4, Vmd2l3

MMRRC Submission

038723-MU

Accession Numbers

Essential gene?

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

Stock #

R0531 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

116822219-116860945 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 116840280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020378 (fasta)

Gene Model

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

AlphaFold

Q6H1V1

Predicted Effect

probably benign
Transcript: ENSMUST00000020378

SMART Domains

Protein: ENSMUSP00000020378
Gene: ENSMUSG00000020169

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: 96.8%
20x: 94.3%

Validation Efficiency

100% (69/69)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,892,127 (GRCm39)	N130D	probably benign	Het
Acot6	C	A	12: 84,148,075 (GRCm39)	D110E	probably benign	Het
Agrn	T	A	4: 156,263,891 (GRCm39)	N124I	probably benign	Het
Astn1	G	T	1: 158,427,959 (GRCm39)	G710V	probably damaging	Het
Bcar3	T	C	3: 122,220,148 (GRCm39)	V15A	probably benign	Het
Bltp1	T	A	3: 37,090,974 (GRCm39)	I743N	probably damaging	Het
Cenpa	T	C	5: 30,829,837 (GRCm39)	F39L	possibly damaging	Het
Cfap44	A	T	16: 44,221,789 (GRCm39)	M1L	probably benign	Het
Chrnd	A	G	1: 87,122,541 (GRCm39)	I107M	probably damaging	Het
Col11a2	A	G	17: 34,277,351 (GRCm39)		probably benign	Het
Dnah10	G	A	5: 124,889,787 (GRCm39)		probably null	Het
Entpd8	A	G	2: 24,974,781 (GRCm39)	Y404C	probably damaging	Het
Fam118a	T	C	15: 84,932,633 (GRCm39)	I125T	possibly damaging	Het
Fam161a	G	A	11: 22,970,298 (GRCm39)	E159K	possibly damaging	Het
Fkbp5	A	T	17: 28,657,003 (GRCm39)	H71Q	probably benign	Het
Frem2	A	T	3: 53,427,375 (GRCm39)	Y2926N	probably damaging	Het
Gap43	A	T	16: 42,112,691 (GRCm39)	D23E	probably damaging	Het
Glt8d1	T	C	14: 30,728,461 (GRCm39)	F3S	probably benign	Het
Gm11555	C	T	11: 99,540,844 (GRCm39)		probably benign	Het
Gtpbp1	G	A	15: 79,604,292 (GRCm39)	G667S	probably damaging	Het
H2-T24	A	C	17: 36,326,463 (GRCm39)	S145R	probably benign	Het
Inpp5b	A	T	4: 124,689,249 (GRCm39)	N843I	probably damaging	Het
Jak3	C	T	8: 72,139,620 (GRCm39)		probably benign	Het
Krt8	T	A	15: 101,909,883 (GRCm39)	M174L	probably benign	Het
Ktn1	C	T	14: 47,901,398 (GRCm39)	T52I	probably damaging	Het
Lrp4	T	C	2: 91,305,523 (GRCm39)		probably benign	Het
Nefh	G	A	11: 4,890,240 (GRCm39)	A793V	probably damaging	Het
Niban1	T	C	1: 151,593,835 (GRCm39)	V840A	probably benign	Het
Notch1	A	G	2: 26,356,584 (GRCm39)	S1678P	probably benign	Het
Notch2	C	T	3: 98,009,767 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 88,762,112 (GRCm39)	F53S	probably damaging	Het
Or10d4c	A	G	9: 39,558,168 (GRCm39)	T49A	probably benign	Het
Or2ab1	A	G	11: 58,488,674 (GRCm39)	I151V	probably benign	Het
Or5ac25	T	A	16: 59,182,171 (GRCm39)	N137Y	probably damaging	Het
Or6z5	A	T	7: 6,477,234 (GRCm39)	I42F	possibly damaging	Het
Or8g17	G	T	9: 38,930,472 (GRCm39)	R122S	probably damaging	Het
Or9i16	C	T	19: 13,865,116 (GRCm39)	V153I	possibly damaging	Het
Pak4	T	A	7: 28,267,479 (GRCm39)	I62F	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,371 (GRCm39)	F506I	probably damaging	Het
Per1	A	T	11: 68,995,016 (GRCm39)	D632V	probably damaging	Het
Plec	A	G	15: 76,061,498 (GRCm39)	M2678T	probably benign	Het
Plg	A	G	17: 12,630,334 (GRCm39)		probably benign	Het
Prmt1	A	T	7: 44,627,048 (GRCm39)	S304R	probably damaging	Het
Prr27	T	C	5: 87,990,537 (GRCm39)	F50L	probably benign	Het
Prune2	T	C	19: 16,984,117 (GRCm39)	L159P	probably damaging	Het
Ptpn12	A	T	5: 21,203,481 (GRCm39)	N432K	possibly damaging	Het
Rfwd3	A	G	8: 112,020,621 (GRCm39)		probably null	Het
Rims2	A	T	15: 39,430,426 (GRCm39)	D1170V	probably damaging	Het
Sag	T	C	1: 87,762,351 (GRCm39)		probably null	Het
Sall4	C	T	2: 168,598,256 (GRCm39)	A195T	probably benign	Het
Sbf2	G	A	7: 109,966,530 (GRCm39)		probably benign	Het
Scaper	A	T	9: 55,517,158 (GRCm39)	D599E	possibly damaging	Het
Sema7a	G	A	9: 57,867,876 (GRCm39)	S484N	possibly damaging	Het
Senp1	A	G	15: 97,962,761 (GRCm39)		probably benign	Het
Senp6	A	G	9: 80,031,166 (GRCm39)	T623A	probably damaging	Het
Siae	A	G	9: 37,539,090 (GRCm39)	D95G	probably benign	Het
Slc26a2	T	C	18: 61,331,451 (GRCm39)	D660G	probably damaging	Het
Slc3a1	T	C	17: 85,336,077 (GRCm39)	F73S	possibly damaging	Het
Slfn5	A	T	11: 82,851,866 (GRCm39)	Q664L	probably damaging	Het
Spire1	T	C	18: 67,624,375 (GRCm39)	I512V	probably damaging	Het
Srpra	A	G	9: 35,124,797 (GRCm39)	T133A	probably benign	Het
Stag1	A	G	9: 100,836,300 (GRCm39)	*175W	probably null	Het
Stk32c	C	A	7: 138,700,636 (GRCm39)	V316F	probably damaging	Het
Tekt1	A	C	11: 72,236,420 (GRCm39)	N347K	possibly damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tnpo2	T	A	8: 85,776,786 (GRCm39)	C498S	probably damaging	Het
Tra2b	G	A	16: 22,065,955 (GRCm39)	R281*	probably null	Het
Ubr5	A	T	15: 37,991,588 (GRCm39)	I1985N	probably benign	Het
Ush2a	T	G	1: 188,175,378 (GRCm39)	S1159A	probably benign	Het
Vmn1r15	C	T	6: 57,235,236 (GRCm39)	P35S	probably benign	Het
Vmn1r6	A	T	6: 56,979,583 (GRCm39)	I60L	probably benign	Het
Vps8	A	G	16: 21,278,561 (GRCm39)		probably benign	Het
Xkr7	T	C	2: 152,874,272 (GRCm39)	V113A	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
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
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'- TGGCATTCCGCTGGTTTACACAC -3'
(R):5'- GACACAGAGATTGTCGCCTACCTTG -3'

Sequencing Primer
(F):5'- atctccctatgtccacccc -3'
(R):5'- ACCTTGAGCCATCCTGCG -3'

Posted On

2013-06-12