Mutagenetix > Incidental Mutation

Incidental Mutation 'R4760:Best3'

356820

Institutional Source

Beutler Lab

Gene Symbol

Best3

Ensembl Gene

ENSMUSG00000020169

Gene Name

bestrophin 3

Synonyms

mBest4, Vmd2l3

MMRRC Submission

041974-MU

Accession Numbers

Essential gene?

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

Stock #

R4760 (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 116860699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 653 (H653L)

Ref Sequence

ENSEMBL: ENSMUSP00000020378 (fasta)

Gene Model

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

AlphaFold

Q6H1V1

Predicted Effect

probably benign
Transcript: ENSMUST00000020378
AA Change: H653L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020378
Gene: ENSMUSG00000020169
AA Change: H653L

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

98% (90/92)

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
A530053G22Rik	A	G	6: 60,379,086 (GRCm39)		noncoding transcript	Het
Abcc2	A	T	19: 43,798,920 (GRCm39)	Y512F	probably benign	Het
Adgrb1	T	A	15: 74,443,312 (GRCm39)	I51N	probably damaging	Het
Adhfe1	A	G	1: 9,633,748 (GRCm39)	Y332C	probably damaging	Het
Ambn	C	T	5: 88,615,566 (GRCm39)	L317F	probably damaging	Het
Amn1	T	C	6: 149,086,611 (GRCm39)	Y17C	probably benign	Het
Apoa5	T	C	9: 46,181,593 (GRCm39)	V223A	probably damaging	Het
Btnl2	C	A	17: 34,582,169 (GRCm39)	S245Y	probably damaging	Het
Camk1d	A	G	2: 5,366,867 (GRCm39)	L116P	probably damaging	Het
Catsperg2	T	A	7: 29,405,060 (GRCm39)	D698V	probably damaging	Het
Cd33	T	C	7: 43,178,919 (GRCm39)	T307A	probably benign	Het
Cdk8	C	T	5: 146,229,476 (GRCm39)	S230L	probably benign	Het
Cfap69	C	T	5: 5,696,939 (GRCm39)	C119Y	probably damaging	Het
Chat	T	C	14: 32,175,694 (GRCm39)	N122S	probably benign	Het
Col20a1	A	T	2: 180,626,196 (GRCm39)		probably benign	Het
Cyp2j9	A	T	4: 96,457,028 (GRCm39)	L481Q	probably damaging	Het
Dab1	A	C	4: 104,589,342 (GRCm39)	S550R	probably damaging	Het
Dlgap2	A	C	8: 14,823,380 (GRCm39)	Q533P	probably damaging	Het
Eif4g3	A	T	4: 137,811,629 (GRCm39)	Q31L	possibly damaging	Het
Ets2	G	A	16: 95,520,087 (GRCm39)	V438M	probably damaging	Het
Eva1c	G	A	16: 90,701,138 (GRCm39)	D258N	probably benign	Het
Fastkd2	A	G	1: 63,785,045 (GRCm39)	H477R	probably benign	Het
Fga	T	G	3: 82,938,821 (GRCm39)	S399A	probably benign	Het
Fmo4	T	A	1: 162,637,396 (GRCm39)	E32V	probably damaging	Het
Gm7204	T	A	16: 48,039,051 (GRCm39)		noncoding transcript	Het
Gpi-ps	G	A	8: 5,690,473 (GRCm39)		noncoding transcript	Het
Hhipl1	A	G	12: 108,286,336 (GRCm39)	I548V	probably damaging	Het
Hsfy2	T	C	1: 56,676,349 (GRCm39)	T63A	probably benign	Het
Igf2r	A	G	17: 12,922,352 (GRCm39)	V1254A	possibly damaging	Het
Ighv8-4	A	T	12: 114,987,667 (GRCm39)	D110E	probably damaging	Het
Igkv14-130	T	C	6: 67,768,446 (GRCm39)	S101P	probably benign	Het
Igkv9-120	G	T	6: 68,027,351 (GRCm39)	R88S	possibly damaging	Het
Ipo5	T	C	14: 121,179,054 (GRCm39)	V779A	probably benign	Het
Itpr1	C	T	6: 108,326,593 (GRCm39)	T105I	probably benign	Het
Kalrn	T	C	16: 34,018,857 (GRCm39)	M670V	probably damaging	Het
Kdm8	T	A	7: 125,054,431 (GRCm39)		probably null	Het
Kics2	T	C	10: 121,575,912 (GRCm39)	V11A	probably damaging	Het
L3hypdh	T	C	12: 72,124,016 (GRCm39)	I281V	probably benign	Het
Lins1	T	G	7: 66,364,435 (GRCm39)		probably benign	Het
Map4k5	T	A	12: 69,871,372 (GRCm39)	I517L	possibly damaging	Het
Marchf2	G	T	17: 33,928,890 (GRCm39)	T2K	probably damaging	Het
Mlkl	C	G	8: 112,046,348 (GRCm39)		probably null	Het
Mllt1	A	G	17: 57,209,630 (GRCm39)	M160T	probably benign	Het
Mmp15	G	A	8: 96,094,824 (GRCm39)	A233T	possibly damaging	Het
Moxd2	C	A	6: 40,868,537 (GRCm39)	T23N	probably benign	Het
Nop53	C	A	7: 15,676,812 (GRCm39)	K100N	probably benign	Het
Nrg1	C	A	8: 32,408,228 (GRCm39)	E2*	probably null	Het
Or52u1	T	A	7: 104,237,696 (GRCm39)	H228Q	probably benign	Het
Pank4	A	G	4: 155,059,091 (GRCm39)	D408G	possibly damaging	Het
Pcdhb10	T	C	18: 37,544,995 (GRCm39)	W24R	probably benign	Het
Pcm1	C	T	8: 41,740,775 (GRCm39)	T968I	probably damaging	Het
Pkib	G	T	10: 57,584,246 (GRCm39)	M19I	probably benign	Het
Ppy	A	G	11: 101,991,345 (GRCm39)		probably null	Het
Pramel21	G	A	4: 143,343,801 (GRCm39)	R367K	probably benign	Het
Prdx3	A	C	19: 60,861,621 (GRCm39)	C39W	possibly damaging	Het
Qrfpr	T	G	3: 36,276,073 (GRCm39)	N106H	probably benign	Het
Rai14	G	A	15: 10,575,776 (GRCm39)	T394M	possibly damaging	Het
Ralgapa2	A	T	2: 146,188,669 (GRCm39)	L1371Q	probably benign	Het
Rbm12	A	G	2: 155,939,048 (GRCm39)	L408P	probably damaging	Het
Rdx	T	C	9: 51,977,174 (GRCm39)	I141T	probably benign	Het
Reep1	T	A	6: 71,684,985 (GRCm39)	V11E	possibly damaging	Het
Relch	T	A	1: 105,649,030 (GRCm39)	M723K	probably benign	Het
Sall4	A	G	2: 168,592,347 (GRCm39)	S936P	probably damaging	Het
Serac1	A	G	17: 6,102,065 (GRCm39)	M403T	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc35g2	T	G	9: 100,435,549 (GRCm39)	I41L	probably benign	Het
Slc39a12	G	A	2: 14,405,134 (GRCm39)	S242N	probably benign	Het
Slc9a2	T	A	1: 40,801,076 (GRCm39)	D535E	probably damaging	Het
Spata31d1a	G	T	13: 59,849,459 (GRCm39)	P890T	probably damaging	Het
Sync	A	G	4: 129,187,232 (GRCm39)	Q88R	probably benign	Het
Tdrp	A	G	8: 14,024,527 (GRCm39)		probably benign	Het
Tg	G	T	15: 66,565,168 (GRCm39)	C1170F	probably damaging	Het
Tnks	A	T	8: 35,318,937 (GRCm39)	D781E	probably benign	Het
Tnp2	T	A	16: 10,606,207 (GRCm39)	T87S	possibly damaging	Het
Tpp2	T	C	1: 44,010,875 (GRCm39)	V554A	probably benign	Het
Traf3ip2	T	C	10: 39,521,735 (GRCm39)	I431T	probably damaging	Het
Trav9d-4	A	T	14: 53,221,258 (GRCm39)	H84L	probably damaging	Het
Vmn2r42	T	A	7: 8,187,276 (GRCm39)	Y782F	probably damaging	Het
Vwf	T	C	6: 125,547,567 (GRCm39)	S231P	probably damaging	Het
Wdr83os	A	G	8: 85,808,496 (GRCm39)	S83G	probably damaging	Het
Wdr91	T	A	6: 34,885,234 (GRCm39)	Q109L	probably damaging	Het
Znrf4	A	G	17: 56,818,864 (GRCm39)	C148R	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
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'- CACACCTCGCTGGGAAACTTAG -3'
(R):5'- CCCCTGTGTGCTAGACAATGTG -3'

Sequencing Primer
(F):5'- AACTTAGGTCCAGATCCTGTGAGTC -3'
(R):5'- GTGTTTGATCATAACGCCCTTCAGAG -3'

Posted On

2015-11-11