Mutagenetix > Incidental Mutation

Incidental Mutation 'R5837:Best1'

449685

Institutional Source

Beutler Lab

Gene Symbol

Best1

Ensembl Gene

ENSMUSG00000037418

Gene Name

bestrophin 1

Synonyms

best macular dystrophy, mBest1, Vmd2

MMRRC Submission

044057-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9962538-9978997 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to A at 9966483 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144273

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

99% (72/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,323,371 (GRCm39)	R113Q	probably benign	Het
Ank1	A	G	8: 23,594,806 (GRCm39)	N605D	probably damaging	Het
Apob	A	G	12: 8,053,277 (GRCm39)	M1240V	probably benign	Het
Atf1	T	A	15: 100,152,265 (GRCm39)	I86N	probably damaging	Het
Bet1l	C	A	7: 140,434,694 (GRCm39)	R51L	probably benign	Het
Bpifa5	A	G	2: 154,005,598 (GRCm39)	Y60C	probably damaging	Het
Ccdc141	G	T	2: 76,938,781 (GRCm39)	Q275K	possibly damaging	Het
Cep295	T	A	9: 15,258,280 (GRCm39)	H241L	probably damaging	Het
Commd7	A	G	2: 153,471,144 (GRCm39)	V36A	possibly damaging	Het
Cyld	G	A	8: 89,468,032 (GRCm39)	S555N	probably damaging	Het
Cyp2j13	A	T	4: 95,959,919 (GRCm39)	I79N	probably damaging	Het
Dact2	A	G	17: 14,416,515 (GRCm39)	S562P	probably damaging	Het
Dnajc13	T	A	9: 104,053,865 (GRCm39)	I1664F	possibly damaging	Het
Ehmt1	A	G	2: 24,753,926 (GRCm39)	V277A	probably damaging	Het
Fbn1	A	T	2: 125,221,054 (GRCm39)		probably null	Het
Galnt6	G	A	15: 100,592,527 (GRCm39)	T560M	possibly damaging	Het
Glra1	G	T	11: 55,427,333 (GRCm39)		probably null	Het
Gm10762	C	T	2: 128,809,077 (GRCm39)		probably benign	Het
Greb1	C	T	12: 16,738,586 (GRCm39)	R1459H	probably damaging	Het
Ift140	A	G	17: 25,308,514 (GRCm39)	K1048E	probably damaging	Het
Ilk	T	C	7: 105,390,378 (GRCm39)		probably null	Het
Lgi4	C	T	7: 30,770,208 (GRCm39)		probably benign	Het
Loxhd1	A	G	18: 77,374,105 (GRCm39)	T59A	possibly damaging	Het
Lzic	G	T	4: 149,570,457 (GRCm39)		probably null	Het
Mef2d	A	G	3: 88,069,088 (GRCm39)	T286A	probably benign	Het
Mycbp2	C	A	14: 103,361,839 (GRCm39)	C4447F	probably damaging	Het
Ncoa2	A	G	1: 13,294,930 (GRCm39)		probably benign	Het
Nolc1	T	C	19: 46,071,622 (GRCm39)		probably benign	Het
Npl	T	C	1: 153,379,271 (GRCm39)	T271A	probably benign	Het
Nudt1	A	G	5: 140,320,295 (GRCm39)	R25G	probably damaging	Het
Nudt19	T	C	7: 35,251,061 (GRCm39)	E226G	possibly damaging	Het
Oc90	T	C	15: 65,748,295 (GRCm39)	D405G	probably benign	Het
Or10q1b	T	A	19: 13,682,324 (GRCm39)	C44*	probably null	Het
Or1e1c	A	G	11: 73,266,474 (GRCm39)	M300V	probably benign	Het
Or5as1	A	T	2: 86,980,699 (GRCm39)	F102Y	probably benign	Het
Or9k2b	A	T	10: 130,016,266 (GRCm39)	L161H	probably damaging	Het
Pcdhb1	T	C	18: 37,398,880 (GRCm39)	I277T	possibly damaging	Het
Pcdhb9	C	A	18: 37,535,851 (GRCm39)	A615E	probably damaging	Het
Phrf1	C	G	7: 140,839,974 (GRCm39)	D1056E	probably benign	Het
Phyhip	C	A	14: 70,704,450 (GRCm39)	A223E	probably damaging	Het
Polr2h	T	A	16: 20,536,682 (GRCm39)	I4N	probably damaging	Het
Ppp1r12c	C	A	7: 4,500,403 (GRCm39)		probably benign	Het
Pramel11	A	G	4: 143,623,490 (GRCm39)	V228A	probably benign	Het
Psg17	T	A	7: 18,554,140 (GRCm39)	T37S	possibly damaging	Het
Ptprz1	T	C	6: 23,001,417 (GRCm39)	V1169A	probably benign	Het
Rabgap1l	T	C	1: 160,134,792 (GRCm39)		probably benign	Het
Rapgef3	C	T	15: 97,655,223 (GRCm39)		probably benign	Het
Rbp3	C	A	14: 33,676,230 (GRCm39)	H59Q	probably benign	Het
Robo3	T	A	9: 37,341,112 (GRCm39)		probably null	Het
Slco4c1	C	T	1: 96,746,707 (GRCm39)	E712K	probably benign	Het
Ssh3	T	C	19: 4,316,428 (GRCm39)	T168A	probably benign	Het
Stoml2	G	T	4: 43,028,989 (GRCm39)	N248K	probably damaging	Het
Tmigd1	A	G	11: 76,806,911 (GRCm39)		probably benign	Het
Tnc	T	A	4: 63,931,451 (GRCm39)	D753V	probably damaging	Het
Tnik	A	T	3: 28,722,202 (GRCm39)		probably benign	Het
Treml1	A	G	17: 48,667,180 (GRCm39)	S22G	possibly damaging	Het
Trmt2a	C	T	16: 18,067,326 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,547,718 (GRCm39)	T32151A	probably damaging	Het
Utp25	A	T	1: 192,800,701 (GRCm39)	F373Y	probably damaging	Het
Vmn1r67	T	C	7: 10,180,949 (GRCm39)	I10T	probably benign	Het
Vmn2r116	T	C	17: 23,606,054 (GRCm39)	F322S	probably damaging	Het
Wdr19	A	G	5: 65,360,300 (GRCm39)	D35G	probably benign	Het
Zfp365	A	T	10: 67,724,870 (GRCm39)	H339Q	probably damaging	Het
Zfp677	A	T	17: 21,617,648 (GRCm39)	H235L	probably damaging	Het
Zpbp2	G	A	11: 98,442,097 (GRCm39)		probably benign	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
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
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'- GCTGGGCAACTTTATTAGTCCC -3'
(R):5'- GTCTATTGGCTACCACTTCGG -3'

Sequencing Primer
(F):5'- GGCAACTTTATTAGTCCCTATGAACC -3'
(R):5'- ACTTCGGTCCTTGGCAACCAG -3'

Posted On

2016-12-20