Mutagenetix > Incidental Mutation

Incidental Mutation 'R7284:Best1'

565913

Institutional Source

Beutler Lab

Gene Symbol

Best1

Ensembl Gene

ENSMUSG00000037418

Gene Name

bestrophin 1

Synonyms

best macular dystrophy, mBest1, Vmd2

MMRRC Submission

045392-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9962538-9978997 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 9963737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113053 (fasta)

Gene Model

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

probably null
Transcript: ENSMUST00000117346

SMART Domains

Protein: ENSMUSP00000113053
Gene: ENSMUSG00000037418

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

Predicted Effect

probably null
Transcript: ENSMUST00000117346

SMART Domains

Protein: ENSMUSP00000113053
Gene: ENSMUSG00000037418

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: 99.5%
20x: 98.3%

Validation Efficiency

99% (77/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	G	T	7: 12,246,605 (GRCm39)	E34*	probably null	Het
4933421I07Rik	C	T	7: 42,097,404 (GRCm39)	R30H	probably damaging	Het
AB124611	C	A	9: 21,450,400 (GRCm39)	Q158K	probably benign	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Abcc9	A	T	6: 142,628,643 (GRCm39)	L367Q	probably damaging	Het
Aftph	T	C	11: 20,676,812 (GRCm39)	K266E	probably benign	Het
Akap9	T	A	5: 4,006,246 (GRCm39)	D190E	probably damaging	Het
Angel1	G	T	12: 86,767,298 (GRCm39)	D359E	probably damaging	Het
Ano6	T	C	15: 95,846,184 (GRCm39)	I474T	probably damaging	Het
Atp2c1	A	T	9: 105,398,008 (GRCm39)		probably null	Het
Bhlha9	A	G	11: 76,563,492 (GRCm39)	S40G	probably benign	Het
Cabin1	G	A	10: 75,530,668 (GRCm39)	R178C		Het
Ccnb1ip1	A	G	14: 51,029,736 (GRCm39)	Y109H	probably damaging	Het
Col14a1	T	C	15: 55,381,715 (GRCm39)	S1763P	probably damaging	Het
Dars1	T	C	1: 128,300,004 (GRCm39)	T327A	probably benign	Het
Dhx8	T	C	11: 101,645,648 (GRCm39)	Y889H	probably damaging	Het
Dlg4	T	A	11: 69,932,908 (GRCm39)	Y523*	probably null	Het
Dnah10	A	T	5: 124,909,662 (GRCm39)	D4484V	probably benign	Het
Dnah9	A	T	11: 65,881,302 (GRCm39)	M2591K	probably damaging	Het
Dock2	T	C	11: 34,180,672 (GRCm39)	E1715G	probably benign	Het
Dym	A	G	18: 75,252,242 (GRCm39)	Y336C	possibly damaging	Het
Ezh2	A	G	6: 47,521,453 (GRCm39)	M439T	probably benign	Het
Folr1	T	G	7: 101,508,677 (GRCm39)	N83H	possibly damaging	Het
Ganab	T	C	19: 8,889,904 (GRCm39)	L656P	probably damaging	Het
Gmnc	T	C	16: 26,779,542 (GRCm39)	H161R	probably benign	Het
Gria4	A	G	9: 4,472,017 (GRCm39)	Y491H	probably damaging	Het
Heatr3	T	A	8: 88,883,402 (GRCm39)	C412S	possibly damaging	Het
Hmgcr	A	C	13: 96,789,173 (GRCm39)	V716G	probably damaging	Het
Igsf9	A	G	1: 172,324,479 (GRCm39)	D799G	probably damaging	Het
Ikbkb	T	C	8: 23,158,976 (GRCm39)	T501A	probably benign	Het
Kbtbd3	C	T	9: 4,330,690 (GRCm39)	R355*	probably null	Het
Kcna7	T	A	7: 45,058,652 (GRCm39)	I313N	probably damaging	Het
Kirrel1	A	C	3: 86,990,694 (GRCm39)	D709E	probably benign	Het
Klb	T	A	5: 65,540,821 (GRCm39)	S971R	probably benign	Het
Krtap4-13	A	T	11: 99,700,238 (GRCm39)	C140*	probably null	Het
Lacc1	A	T	14: 77,268,309 (GRCm39)	L334Q	probably damaging	Het
Map6d1	T	A	16: 20,059,775 (GRCm39)	R97*	probably null	Het
Mgat5b	T	C	11: 116,835,746 (GRCm39)	S129P	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Myh9	G	A	15: 77,671,796 (GRCm39)	R432C	probably damaging	Het
Ncf4	A	G	15: 78,144,902 (GRCm39)	T236A	probably benign	Het
Neb	T	C	2: 52,148,804 (GRCm39)	D2581G	probably damaging	Het
Nid1	T	A	13: 13,663,675 (GRCm39)	M778K	probably benign	Het
Npas2	A	G	1: 39,363,548 (GRCm39)	D209G	probably benign	Het
Nploc4	C	T	11: 120,307,196 (GRCm39)	V181I	possibly damaging	Het
Nrcam	A	T	12: 44,610,817 (GRCm39)	I506F	probably damaging	Het
Or52w1	T	A	7: 105,017,752 (GRCm39)	M73K	probably damaging	Het
Or5h27	A	G	16: 59,006,331 (GRCm39)	*172Q	probably null	Het
Or6c3b	T	C	10: 129,527,220 (GRCm39)	N230S	probably benign	Het
Pask	T	A	1: 93,248,391 (GRCm39)	Q970L	probably benign	Het
Pfkfb4	T	C	9: 108,840,308 (GRCm39)	I308T	possibly damaging	Het
Pla2g4d	A	T	2: 120,114,617 (GRCm39)	L38Q	probably damaging	Het
Pld1	A	G	3: 28,185,882 (GRCm39)	T1036A	possibly damaging	Het
Pom121l2	A	G	13: 22,166,775 (GRCm39)	T349A	probably damaging	Het
Ppp1r13b	A	G	12: 111,801,400 (GRCm39)	I551T	possibly damaging	Het
Prps1l1	A	G	12: 35,035,317 (GRCm39)	N144S	possibly damaging	Het
Prss56	A	G	1: 87,113,123 (GRCm39)	N179S	probably null	Het
Prune2	T	C	19: 17,097,250 (GRCm39)	L918P	probably damaging	Het
Ptprz1	C	T	6: 23,000,097 (GRCm39)	T729I	probably damaging	Het
Relch	T	A	1: 105,662,308 (GRCm39)	H942Q	probably benign	Het
Rrp7a	T	C	15: 83,006,071 (GRCm39)	T60A	probably damaging	Het
Snx27	A	G	3: 94,431,498 (GRCm39)	Y299H	probably damaging	Het
Spaca3	G	T	11: 80,754,847 (GRCm39)	R96L	possibly damaging	Het
Stat1	A	G	1: 52,188,081 (GRCm39)	N495S	probably benign	Het
Tas2r130	T	C	6: 131,607,270 (GRCm39)	N175S	probably benign	Het
Tcaf2	A	G	6: 42,606,472 (GRCm39)	L494P	probably damaging	Het
Tdrd12	C	A	7: 35,179,561 (GRCm39)		probably null	Het
Thbs1	A	G	2: 117,949,837 (GRCm39)	N604S	probably damaging	Het
Togaram1	T	C	12: 65,055,454 (GRCm39)	F1482L	probably benign	Het
Trhr2	A	T	8: 123,087,114 (GRCm39)	S109T	probably damaging	Het
Trpc3	A	T	3: 36,678,562 (GRCm39)	M841K	probably damaging	Het
Tubgcp5	C	T	7: 55,473,315 (GRCm39)	R798C	probably benign	Het
Xirp2	T	A	2: 67,347,173 (GRCm39)	M3138K	probably benign	Het
Zdhhc4	G	A	5: 143,307,646 (GRCm39)	T125I	probably benign	Het
Zfp239	T	A	6: 117,848,716 (GRCm39)	C151*	probably null	Het
Zfp473	C	T	7: 44,382,627 (GRCm39)	E569K	not run	Het
Zzef1	T	A	11: 72,777,516 (GRCm39)	D1782E	probably 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
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
R8192:Best1	UTSW	19	9,963,664 (GRCm39)	missense	possibly damaging	0.52
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'- AGGACTCTGCATGCTCCTTC -3'
(R):5'- CACCCATGACTTCTGAGACC -3'

Sequencing Primer
(F):5'- CATTAGAGCCTGTATATTGGTTGAC -3'
(R):5'- CTTCTGAGACCAAGAAGAACACTTTG -3'

Posted On

2019-06-26