Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03355:Best3'

419909

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Best3

Ensembl Gene

ENSMUSG00000020169

Gene Name

bestrophin 3

Synonyms

mBest4, Vmd2l3

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

IGL03355

Quality Score

Status

Chromosome

Chromosomal Location

116986314-117025040 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116993105 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 97 (F97L)

Ref Sequence

ENSEMBL: ENSMUSP00000020378 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020378
AA Change: F97L

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020378
Gene: ENSMUSG00000020169
AA Change: F97L

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610002M06Rik	C	A	X: 107,788,283	V180F	possibly damaging	Het
Actrt1	T	C	X: 46,329,747	V213A	probably benign	Het
Adam28	A	T	14: 68,634,803		probably benign	Het
Apeh	T	C	9: 108,086,445	H557R	probably benign	Het
Atmin	T	A	8: 116,957,425	L608*	probably null	Het
B3gnt5	A	T	16: 19,769,153	M41L	probably benign	Het
Col7a1	G	A	9: 108,978,160	V2486M	unknown	Het
Crym	T	C	7: 120,199,313		probably null	Het
Cubn	T	C	2: 13,478,057		probably null	Het
Dnah7b	A	G	1: 46,119,304	D349G	probably benign	Het
Eea1	T	C	10: 96,042,212		probably benign	Het
Emc1	C	T	4: 139,371,593		probably benign	Het
Eps8	T	C	6: 137,512,145		probably benign	Het
Ereg	A	G	5: 91,088,581		probably benign	Het
Faah	G	A	4: 116,002,528	P369S	probably benign	Het
Fam135a	A	T	1: 24,029,168	N703K	possibly damaging	Het
Frmpd1	T	C	4: 45,279,140	S622P	probably damaging	Het
Gm10030	A	G	9: 111,006,773		noncoding transcript	Het
Gpr179	A	T	11: 97,337,608	S1240R	possibly damaging	Het
Hax1	A	T	3: 89,997,447	H146Q	possibly damaging	Het
Ift46	A	G	9: 44,782,148	N31D	possibly damaging	Het
Kel	C	T	6: 41,698,887		probably null	Het
Khk	A	T	5: 30,929,560	I108L	probably benign	Het
Morc4	T	C	X: 139,849,682	N375S	probably null	Het
Mta3	A	T	17: 83,800,045		probably benign	Het
Nacc2	T	C	2: 26,062,237	K369R	probably damaging	Het
Nkap	T	C	X: 37,139,670		probably benign	Het
Obscn	A	T	11: 59,037,792	L6016Q	probably damaging	Het
Olfr25	A	T	9: 38,329,656	Q20L	probably benign	Het
Olfr589	T	C	7: 103,155,201	E182G	probably damaging	Het
Pde4c	T	A	8: 70,746,595	L182Q	probably damaging	Het
Pla2g10	G	T	16: 13,730,420		probably null	Het
Rap1gap2	T	A	11: 74,412,344	I426F	probably damaging	Het
Rbm33	C	A	5: 28,391,061		probably benign	Het
Rnf139	C	A	15: 58,900,032	D635E	probably benign	Het
Sar1a	T	C	10: 61,684,939	V15A	possibly damaging	Het
Scarb1	A	C	5: 125,289,702	S56A	probably benign	Het
Scn3a	T	C	2: 65,460,568	K1945E	possibly damaging	Het
Sec62	G	A	3: 30,809,922	G118R	unknown	Het
Sgce	T	A	6: 4,689,738	Q356L	probably damaging	Het
Slco4c1	A	T	1: 96,842,507	Y277*	probably null	Het
Smarca4	C	T	9: 21,635,836	T219I	probably benign	Het
Sphkap	A	T	1: 83,280,503	I173N	probably damaging	Het
Spred3	C	T	7: 29,161,572	C394Y	unknown	Het
Stra6l	A	G	4: 45,873,689	D283G	probably benign	Het
Tipin	A	T	9: 64,288,124	Q4L	probably benign	Het
Tmprss11c	T	A	5: 86,231,871	I380F	probably benign	Het
Tymp	T	C	15: 89,375,016	D195G	possibly damaging	Het
Ugt2b34	T	A	5: 86,906,685	Y79F	probably benign	Het
Vmn2r16	T	A	5: 109,363,714	S596T	possibly damaging	Het
Wdhd1	A	G	14: 47,243,889	S1024P	possibly damaging	Het

Other mutations in Best3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Best3	APN	10	116988727	missense	probably damaging	1.00
IGL00158:Best3	APN	10	117004541	splice site	probably benign
IGL02493:Best3	APN	10	117024601	missense	possibly damaging	0.95
IGL02713:Best3	APN	10	117024529	missense	probably benign	0.00
IGL03178:Best3	APN	10	116988779	missense	probably damaging	1.00
R0531:Best3	UTSW	10	117004375	splice site	probably benign
R0578:Best3	UTSW	10	117008999	missense	probably benign	0.06
R1671:Best3	UTSW	10	117024668	missense	possibly damaging	0.58
R1769:Best3	UTSW	10	117023978	missense	probably benign	0.00
R1860:Best3	UTSW	10	116993273	missense	probably damaging	1.00
R1935:Best3	UTSW	10	117024386	missense	probably benign
R2103:Best3	UTSW	10	117002594	missense	probably benign	0.01
R3942:Best3	UTSW	10	116988674	missense	possibly damaging	0.49
R4260:Best3	UTSW	10	117024226	missense	probably benign
R4332:Best3	UTSW	10	117002524	missense	probably benign	0.37
R4741:Best3	UTSW	10	117023996	missense	probably benign	0.06
R4760:Best3	UTSW	10	117024794	missense	probably benign	0.00
R4896:Best3	UTSW	10	117024555	missense	probably benign	0.00
R4912:Best3	UTSW	10	117008981	missense	probably damaging	1.00
R5023:Best3	UTSW	10	116988742	missense	probably benign	0.06
R5087:Best3	UTSW	10	117009002	missense	probably benign	0.01
R5213:Best3	UTSW	10	117024472	missense	probably benign	0.01
R5457:Best3	UTSW	10	117004511	missense	probably damaging	1.00
R5928:Best3	UTSW	10	117007627	missense	probably damaging	1.00
R5982:Best3	UTSW	10	117004417	missense	probably damaging	0.98
R6335:Best3	UTSW	10	117002651	missense	probably benign	0.32
R7068:Best3	UTSW	10	116988638	missense	probably damaging	1.00
R7469:Best3	UTSW	10	117004385	missense	probably damaging	1.00
RF014:Best3	UTSW	10	117004505	missense	probably damaging	1.00
Z1088:Best3	UTSW	10	117024170	missense	probably benign	0.00
Z1176:Best3	UTSW	10	117024622	missense	probably benign	0.24

Posted On

2016-08-02