Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02470:Best1'

294693

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Best1

Ensembl Gene

ENSMUSG00000037418

Gene Name

bestrophin 1

Synonyms

best macular dystrophy, mBest1, Vmd2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02470

Quality Score

Status

Chromosome

Chromosomal Location

9985174-10001633 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9992976 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 91 (S91G)

Ref Sequence

ENSEMBL: ENSMUSP00000113053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117346]

Predicted Effect

probably benign
Transcript: ENSMUST00000117346
AA Change: S91G

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113053
Gene: ENSMUSG00000037418
AA Change: S91G

Domain	Start	End	E-Value	Type
Pfam:Bestrophin	8	316	8.5e-111	PFAM
low complexity region	476	488	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144273

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]
PHENOTYPE: Homozygous null mutations of this gene generally result in abnormal retinal pigment epithelium morphology and/or altered eye electrophysiology. Homozygotes for a null allele show male subfertility associated with abnormal sperm morphology and reduced motility in the absence of retinal pathology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,615,222	M255K	probably damaging	Het
Adcy10	A	G	1: 165,567,726	Y1422C	probably damaging	Het
Adnp	T	A	2: 168,183,194	K727I	probably damaging	Het
Akr1c21	A	T	13: 4,577,407	N167Y	probably damaging	Het
Arl4a	T	C	12: 40,036,748		probably benign	Het
BB014433	A	T	8: 15,042,803	F17I	unknown	Het
Ccdc148	A	T	2: 59,001,899	S235T	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dcc	A	T	18: 71,955,082		probably benign	Het
Dnajc13	G	A	9: 104,175,747	T1672I	probably benign	Het
Elf3	A	T	1: 135,255,012	F325Y	probably damaging	Het
Enpp2	A	G	15: 54,839,460	L880P	probably damaging	Het
Fndc3b	A	G	3: 27,461,720	Y646H	probably damaging	Het
Fzd6	A	T	15: 39,036,557		probably benign	Het
Gnb1	T	A	4: 155,527,513		probably benign	Het
Mast1	C	A	8: 84,921,212	G511V	probably damaging	Het
Mcmbp	T	C	7: 128,704,621	I424M	possibly damaging	Het
Mobp	A	G	9: 120,168,006	T68A	probably benign	Het
Myh11	T	C	16: 14,218,046	E1006G	probably damaging	Het
Ncstn	A	G	1: 172,082,599		probably null	Het
Olfr1089	A	T	2: 86,733,585	V9E	probably damaging	Het
Olfr340	A	G	2: 36,452,597	D4G	probably benign	Het
Phip	A	T	9: 82,890,454	V1075D	possibly damaging	Het
Serpinb1a	C	T	13: 32,850,393	S5N	probably damaging	Het
Slc15a3	A	G	19: 10,853,170	N295S	probably benign	Het
Trmt13	A	C	3: 116,590,228		probably null	Het
Trp63	A	C	16: 25,820,384		probably benign	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het

Other mutations in Best1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01563:Best1	APN	19	9986735	missense	probably benign	0.22
IGL02129:Best1	APN	19	9992921	missense	probably benign
IGL02310:Best1	APN	19	9989152	missense	probably benign	0.00
IGL02505:Best1	APN	19	9989150	missense	probably damaging	1.00
R0366:Best1	UTSW	19	9992053	splice site	probably null
R1476:Best1	UTSW	19	9990489	nonsense	probably null
R1674:Best1	UTSW	19	9993226	critical splice donor site	probably null
R2091:Best1	UTSW	19	9992079	missense	probably benign	0.27
R2516:Best1	UTSW	19	9993311	nonsense	probably null
R2866:Best1	UTSW	19	9986221	missense	probably benign
R4693:Best1	UTSW	19	9997135	missense	probably damaging	1.00
R4851:Best1	UTSW	19	9991698	missense	probably damaging	1.00
R4895:Best1	UTSW	19	9992771	missense	probably benign	0.00
R5633:Best1	UTSW	19	9992103	missense	probably benign	0.29
R5700:Best1	UTSW	19	9997199	unclassified	probably benign
R5837:Best1	UTSW	19	9989119	splice site	probably null
R6893:Best1	UTSW	19	9997082	missense	probably damaging	1.00
R7021:Best1	UTSW	19	9986779	missense	probably benign
R7220:Best1	UTSW	19	9992115	missense	probably benign	0.31
R7267:Best1	UTSW	19	9986813	missense	probably benign	0.00
R7284:Best1	UTSW	19	9986373	critical splice acceptor site	probably null
R7489:Best1	UTSW	19	9997046	missense	possibly damaging	0.68
R7568:Best1	UTSW	19	9989275	critical splice acceptor site	probably null
R7798:Best1	UTSW	19	9991671	missense	probably damaging	1.00
X0065:Best1	UTSW	19	9986975	missense	probably benign	0.03
Z1177:Best1	UTSW	19	9993239	missense	probably damaging	1.00

Posted On

2015-04-16