Mutagenetix > Incidental Mutation

Incidental Mutation 'R8192:Best1'

635262

Institutional Source

Beutler Lab

Gene Symbol

Best1

Ensembl Gene

ENSMUSG00000037418

Gene Name

bestrophin 1

Synonyms

best macular dystrophy, mBest1, Vmd2

MMRRC Submission

067615-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8192 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9962538-9978997 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9963664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 506 (I506F)

Ref Sequence

ENSEMBL: ENSMUSP00000113053 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025563] [ENSMUST00000117346]

AlphaFold

O88870

Predicted Effect

probably benign
Transcript: ENSMUST00000025563

SMART Domains

Protein: ENSMUSP00000025563
Gene: ENSMUSG00000024661

Domain	Start	End	E-Value	Type
Pfam:Ferritin	18	159	1.5e-40	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117346
AA Change: I506F

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113053
Gene: ENSMUSG00000037418
AA Change: I506F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	A	T	8: 44,103,970 (GRCm39)	D558E	probably damaging	Het
Alox15	T	A	11: 70,241,736 (GRCm39)	E48D	probably benign	Het
Alyref	T	C	11: 120,488,522 (GRCm39)	E102G	probably benign	Het
Bach2	A	G	4: 32,562,294 (GRCm39)	S254G	probably benign	Het
Bcl2l13	A	G	6: 120,853,267 (GRCm39)	E184G	possibly damaging	Het
Cd177	T	A	7: 24,453,727 (GRCm39)	D388V	probably benign	Het
Cep350	T	C	1: 155,816,529 (GRCm39)	K329E	possibly damaging	Het
Clasrp	T	C	7: 19,329,387 (GRCm39)	N65S	possibly damaging	Het
Cobl	T	C	11: 12,199,745 (GRCm39)	R1301G	probably benign	Het
Cul9	T	C	17: 46,849,273 (GRCm39)	E624G	probably benign	Het
Cyp21a1	A	T	17: 35,022,633 (GRCm39)	Y109N	probably damaging	Het
Dbf4	A	G	5: 8,448,134 (GRCm39)	S359P	probably benign	Het
Ddx60	A	G	8: 62,431,002 (GRCm39)	T846A	probably damaging	Het
Dnah11	A	G	12: 117,976,181 (GRCm39)	V2746A	probably benign	Het
Dnah12	G	A	14: 26,428,036 (GRCm39)	A221T	probably benign	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Dock2	A	G	11: 34,623,166 (GRCm39)		probably null	Het
Dpy19l1	T	C	9: 24,362,023 (GRCm39)	I119V	possibly damaging	Het
Dsg1c	A	G	18: 20,399,255 (GRCm39)	T120A	probably damaging	Het
Dzank1	T	C	2: 144,332,145 (GRCm39)	H397R	probably benign	Het
Gaa	G	T	11: 119,161,235 (GRCm39)	A93S	possibly damaging	Het
Galnt4	G	A	10: 98,945,118 (GRCm39)	R281H	probably benign	Het
Gm3250	T	C	10: 77,618,291 (GRCm39)	E29G	unknown	Het
H13	T	G	2: 152,511,522 (GRCm39)	D7E	probably benign	Het
H60c	T	A	10: 3,209,781 (GRCm39)	I140F	probably benign	Het
Hsd3b2	T	C	3: 98,620,908 (GRCm39)	N49S	probably benign	Het
Klhl11	G	T	11: 100,354,922 (GRCm39)	P300T	probably benign	Het
Knop1	C	A	7: 118,452,369 (GRCm39)	V117L		Het
Lgalsl2	T	A	7: 5,362,595 (GRCm39)	D75E	possibly damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Lrrc9	A	T	12: 72,496,163 (GRCm39)	I13F	probably damaging	Het
Macf1	A	G	4: 123,334,390 (GRCm39)	S4456P	probably damaging	Het
Mkrn1	A	T	6: 39,376,289 (GRCm39)	V439D	probably damaging	Het
Muc2	T	A	7: 141,305,215 (GRCm39)	V612D		Het
Nrxn3	A	G	12: 90,171,569 (GRCm39)	N967D	probably benign	Het
Oprm1	C	T	10: 6,788,417 (GRCm39)	P391S	probably benign	Het
Or10g7	T	A	9: 39,905,467 (GRCm39)	D120E	probably damaging	Het
Or5d43	A	C	2: 88,105,288 (GRCm39)	V35G	probably damaging	Het
Parp14	T	A	16: 35,691,584 (GRCm39)	E47V	probably benign	Het
Pikfyve	A	G	1: 65,285,554 (GRCm39)	E931G	possibly damaging	Het
Plcz1	A	T	6: 139,968,986 (GRCm39)	C151S	probably damaging	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Pramel27	G	A	4: 143,578,109 (GRCm39)	W123*	probably null	Het
Rbm26	A	G	14: 105,380,125 (GRCm39)		probably null	Het
Rffl	G	T	11: 82,703,549 (GRCm39)		probably null	Het
Sc5d	T	C	9: 42,171,094 (GRCm39)	I32V	probably benign	Het
Scube1	A	G	15: 83,513,583 (GRCm39)		probably null	Het
Shld2	A	T	14: 33,967,173 (GRCm39)	S680T	probably benign	Het
Slc12a6	A	G	2: 112,181,722 (GRCm39)	Y714C	probably damaging	Het
Slc26a3	A	G	12: 31,518,541 (GRCm39)	I670V	probably benign	Het
Slc8a3	A	T	12: 81,246,455 (GRCm39)	V866D	probably damaging	Het
Slco3a1	A	T	7: 73,970,338 (GRCm39)	M423K	probably benign	Het
Smc6	A	G	12: 11,349,336 (GRCm39)	E773G	probably benign	Het
Son	A	G	16: 91,452,437 (GRCm39)	T395A	possibly damaging	Het
Ss18l1	T	C	2: 179,701,155 (GRCm39)	S290P	probably damaging	Het
Tcof1	A	C	18: 60,976,375 (GRCm39)	V78G	probably damaging	Het
Thsd1	G	A	8: 22,733,918 (GRCm39)	V322M	probably benign	Het
Tln2	A	T	9: 67,253,811 (GRCm39)	C753*	probably null	Het
Trav6n-6	T	A	14: 53,370,497 (GRCm39)	F83I	probably damaging	Het
Ttc39d	A	G	17: 80,524,007 (GRCm39)	H222R	probably damaging	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Upf1	A	G	8: 70,793,294 (GRCm39)	L288P	probably benign	Het
Zfp442	T	C	2: 150,250,629 (GRCm39)	I424M	unknown	Het
Zfp580	T	C	7: 5,056,114 (GRCm39)	V100A	probably benign	Het
Zfpm1	C	A	8: 123,058,833 (GRCm39)	P151Q	probably damaging	Het
Zfr2	C	T	10: 81,078,649 (GRCm39)	P294S	possibly damaging	Het

Other mutations in Best1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01563:Best1	APN	19	9,964,099 (GRCm39)	missense	probably benign	0.22
IGL02129:Best1	APN	19	9,970,285 (GRCm39)	missense	probably benign
IGL02310:Best1	APN	19	9,966,516 (GRCm39)	missense	probably benign	0.00
IGL02470:Best1	APN	19	9,970,340 (GRCm39)	missense	probably benign	0.43
IGL02505:Best1	APN	19	9,966,514 (GRCm39)	missense	probably damaging	1.00
R0366:Best1	UTSW	19	9,969,417 (GRCm39)	splice site	probably null
R1476:Best1	UTSW	19	9,967,853 (GRCm39)	nonsense	probably null
R1674:Best1	UTSW	19	9,970,590 (GRCm39)	critical splice donor site	probably null
R2091:Best1	UTSW	19	9,969,443 (GRCm39)	missense	probably benign	0.27
R2516:Best1	UTSW	19	9,970,675 (GRCm39)	nonsense	probably null
R2866:Best1	UTSW	19	9,963,585 (GRCm39)	missense	probably benign
R4693:Best1	UTSW	19	9,974,499 (GRCm39)	missense	probably damaging	1.00
R4851:Best1	UTSW	19	9,969,062 (GRCm39)	missense	probably damaging	1.00
R4895:Best1	UTSW	19	9,970,135 (GRCm39)	missense	probably benign	0.00
R5633:Best1	UTSW	19	9,969,467 (GRCm39)	missense	probably benign	0.29
R5700:Best1	UTSW	19	9,974,563 (GRCm39)	unclassified	probably benign
R5837:Best1	UTSW	19	9,966,483 (GRCm39)	splice site	probably null
R6893:Best1	UTSW	19	9,974,446 (GRCm39)	missense	probably damaging	1.00
R7021:Best1	UTSW	19	9,964,143 (GRCm39)	missense	probably benign
R7220:Best1	UTSW	19	9,969,479 (GRCm39)	missense	probably benign	0.31
R7267:Best1	UTSW	19	9,964,177 (GRCm39)	missense	probably benign	0.00
R7284:Best1	UTSW	19	9,963,737 (GRCm39)	critical splice acceptor site	probably null
R7489:Best1	UTSW	19	9,974,410 (GRCm39)	missense	possibly damaging	0.68
R7568:Best1	UTSW	19	9,966,639 (GRCm39)	critical splice acceptor site	probably null
R7798:Best1	UTSW	19	9,969,035 (GRCm39)	missense	probably damaging	1.00
R8523:Best1	UTSW	19	9,969,027 (GRCm39)	missense	possibly damaging	0.91
R9570:Best1	UTSW	19	9,970,331 (GRCm39)	missense	probably damaging	1.00
X0065:Best1	UTSW	19	9,964,339 (GRCm39)	missense	probably benign	0.03
Z1177:Best1	UTSW	19	9,970,603 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGATTTGTTGGGTAGACTCAGAAC -3'
(R):5'- ACCCATGACTTCTGAGACCAAG -3'

Sequencing Primer
(F):5'- CTCAGAACTGAAATGGCAGGCAC -3'
(R):5'- AAACACTTGTGAGCTGCCTG -3'

Posted On

2020-07-13