Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00158:Best3'

1216

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: 0.086) question?

Stock #

IGL00158

Quality Score

Status

Chromosome

Chromosomal Location

116986314-117025040 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 117004541 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020378 (fasta)

Gene Model

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

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	T	C	11: 76,003,366	S190P	probably benign	Het
Abhd3	T	A	18: 10,647,869	D300V	possibly damaging	Het
Agap1	A	G	1: 89,663,796		probably benign	Het
Cfap43	T	G	19: 47,830,475	I125L	probably benign	Het
Cntn1	A	G	15: 92,250,877	E335G	possibly damaging	Het
Csmd3	A	T	15: 48,287,495	S396T	possibly damaging	Het
Cxxc5	T	G	18: 35,860,692	*318G	probably null	Het
Dpep3	T	C	8: 105,979,147	T49A	probably benign	Het
Elf1	T	A	14: 79,580,349	M436K	possibly damaging	Het
Ephx2	T	G	14: 66,092,837	I310L	probably benign	Het
Fancm	A	G	12: 65,075,736	T11A	possibly damaging	Het
Ganab	G	T	19: 8,902,595	A73S	probably benign	Het
Glp1r	T	G	17: 30,901,917	L14R	possibly damaging	Het
Kif14	G	A	1: 136,469,018	S354N	probably benign	Het
Krtap9-1	C	T	11: 99,873,854	P139S	unknown	Het
L2hgdh	T	C	12: 69,701,434	D306G	possibly damaging	Het
Lrriq4	A	G	3: 30,650,955		probably null	Het
Mbd3	T	G	10: 80,393,883		probably benign	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mug1	T	C	6: 121,865,809	S585P	probably damaging	Het
Nat8f4	C	A	6: 85,900,987	A185S	probably benign	Het
Nlrc5	C	T	8: 94,502,211		probably benign	Het
Olfr874	T	A	9: 37,746,389	I85N	possibly damaging	Het
Olfr937	T	A	9: 39,059,863	M268L	probably benign	Het
Peg3	T	A	7: 6,710,274	I650F	probably benign	Het
Prom1	A	T	5: 44,055,937	N142K	probably damaging	Het
Qser1	T	A	2: 104,766,056	D1537V	probably damaging	Het
Rbm44	T	A	1: 91,157,109	D684E	probably benign	Het
Rnf19a	A	C	15: 36,265,802	S50A	probably damaging	Het
Rnf31	A	G	14: 55,592,319		probably null	Het
Rspry1	A	G	8: 94,622,986	M1V	probably null	Het
Rspry1	A	T	8: 94,622,980		probably benign	Het
Sap130	C	A	18: 31,698,766	P769T	probably benign	Het
Slc22a16	T	A	10: 40,595,282	M483K	probably damaging	Het
Slc27a1	T	C	8: 71,584,772		probably null	Het
Slc35a5	A	T	16: 45,152,608	C65*	probably null	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Ubqlnl	T	C	7: 104,149,165	E375G	probably benign	Het
Uggt2	G	A	14: 119,049,276	T692I	possibly damaging	Het
Vmn1r211	A	T	13: 22,852,102	C132S	probably benign	Het
Vmn2r61	A	T	7: 42,300,751	N865I	possibly damaging	Het
Vmn2r73	A	T	7: 85,857,587	M839K	probably benign	Het
Xrn2	T	A	2: 147,036,750	S455R	probably benign	Het
Zan	T	A	5: 137,454,257	T1521S	unknown	Het
Zfp326	A	G	5: 105,907,045	M361V	possibly damaging	Het
Zfp472	A	G	17: 32,977,524	Y191C	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
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
IGL03355:Best3	APN	10	116993105	missense	possibly damaging	0.82
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
R8139:Best3	UTSW	10	117004426	missense	probably damaging	1.00
R8306:Best3	UTSW	10	117002610	missense	probably damaging	1.00
R8715:Best3	UTSW	10	116993066	missense	not run
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

2011-07-12