Mutagenetix > Incidental Mutation

Incidental Mutation 'R1476:Best1'

164105

Institutional Source

Beutler Lab

Gene Symbol

Best1

Ensembl Gene

ENSMUSG00000037418

Gene Name

bestrophin 1

Synonyms

best macular dystrophy, mBest1, Vmd2

MMRRC Submission

039529-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1476 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

9962538-9978997 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 9967853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 284 (Y284*)

Ref Sequence

ENSEMBL: ENSMUSP00000113053 (fasta)

Gene Model

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

AlphaFold

O88870

Predicted Effect

probably null
Transcript: ENSMUST00000117346
AA Change: Y284*

SMART Domains

Protein: ENSMUSP00000113053
Gene: ENSMUSG00000037418
AA Change: Y284*

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: 99.3%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

95% (80/84)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310033P09Rik	A	G	11: 59,099,528 (GRCm39)		probably benign	Het
A730015C16Rik	G	A	4: 108,705,205 (GRCm39)	V40M	probably damaging	Het
Abcg2	A	G	6: 58,655,322 (GRCm39)	D419G	probably benign	Het
Adamts17	A	C	7: 66,725,091 (GRCm39)	E777A	probably damaging	Het
Ak1	A	G	2: 32,523,478 (GRCm39)	K166R	probably benign	Het
Ankrd12	T	C	17: 66,293,300 (GRCm39)	K711R	probably damaging	Het
Ate1	A	T	7: 130,020,301 (GRCm39)		probably null	Het
Atp5f1a	A	G	18: 77,869,625 (GRCm39)	H519R	probably benign	Het
C2cd6	A	G	1: 59,115,887 (GRCm39)		probably benign	Het
Casz1	G	T	4: 149,030,628 (GRCm39)	V1216L	probably benign	Het
Cdc42bpg	A	G	19: 6,363,812 (GRCm39)	D493G	probably damaging	Het
Ces2f	A	G	8: 105,679,134 (GRCm39)	D317G	possibly damaging	Het
Chst15	A	T	7: 131,872,002 (GRCm39)	M93K	possibly damaging	Het
Cntnap5a	T	C	1: 115,828,750 (GRCm39)	L58P	probably damaging	Het
Crip3	T	C	17: 46,741,702 (GRCm39)		probably benign	Het
Csmd2	G	A	4: 128,380,794 (GRCm39)	E2117K	probably benign	Het
Cstf3	A	G	2: 104,478,564 (GRCm39)	D212G	possibly damaging	Het
Cttnbp2	T	C	6: 18,434,220 (GRCm39)	K546R	probably damaging	Het
Cubn	A	G	2: 13,480,931 (GRCm39)	I308T	probably benign	Het
Cxcl9	T	A	5: 92,472,972 (GRCm39)	D75V	probably damaging	Het
Dcdc5	C	T	2: 106,188,977 (GRCm39)		noncoding transcript	Het
Defa30	C	A	8: 21,624,752 (GRCm39)	T25K	possibly damaging	Het
Dock7	A	T	4: 98,967,672 (GRCm39)	H239Q	possibly damaging	Het
Dpp4	A	G	2: 62,178,245 (GRCm39)	V629A	possibly damaging	Het
Fam83a	T	C	15: 57,873,341 (GRCm39)	M390T	probably benign	Het
Fem1c	A	G	18: 46,657,552 (GRCm39)	L54P	probably damaging	Het
Fntb	T	A	12: 76,957,007 (GRCm39)	M282K	probably benign	Het
Galnt2l	A	G	8: 122,996,323 (GRCm39)		probably benign	Het
Gm11099	G	A	2: 58,749,482 (GRCm39)		probably benign	Het
Gm1527	T	C	3: 28,980,705 (GRCm39)	S602P	probably benign	Het
Gm5478	T	A	15: 101,553,080 (GRCm39)	I331F	probably damaging	Het
Gm7853	C	A	14: 35,811,540 (GRCm39)		noncoding transcript	Het
Gsta2	A	T	9: 78,249,147 (GRCm39)	C18S	probably benign	Het
H1f8	T	C	6: 115,924,701 (GRCm39)	V69A	possibly damaging	Het
Hecw1	T	C	13: 14,480,671 (GRCm39)	E465G	probably damaging	Het
Herc1	A	G	9: 66,415,548 (GRCm39)	D4841G	probably damaging	Het
Hus1b	A	G	13: 31,130,984 (GRCm39)	V225A	probably benign	Het
Keg1	A	T	19: 12,693,387 (GRCm39)	M137L	probably benign	Het
Kmt2a	C	T	9: 44,735,932 (GRCm39)		probably benign	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mga	T	A	2: 119,772,156 (GRCm39)	V1672E	probably damaging	Het
Mios	T	C	6: 8,234,237 (GRCm39)	S803P	probably benign	Het
Mrtfa	T	C	15: 80,902,409 (GRCm39)		probably benign	Het
Msh4	A	T	3: 153,569,021 (GRCm39)	Y851N	probably damaging	Het
Mybl1	A	C	1: 9,742,886 (GRCm39)		probably null	Het
Myo5c	A	G	9: 75,183,221 (GRCm39)	Y865C	probably damaging	Het
Naip1	T	C	13: 100,563,378 (GRCm39)	S596G	probably benign	Het
Nek5	G	T	8: 22,586,747 (GRCm39)	Q355K	possibly damaging	Het
Nphp3	G	T	9: 103,903,126 (GRCm39)	R701L	possibly damaging	Het
Or52n2	A	T	7: 104,542,444 (GRCm39)	Y130*	probably null	Het
Or5j3	T	C	2: 86,128,823 (GRCm39)	I221T	probably damaging	Het
Or5m10	T	A	2: 85,717,592 (GRCm39)	Y149*	probably null	Het
Or5t9	T	C	2: 86,659,542 (GRCm39)	S149P	probably benign	Het
Or9g4	T	A	2: 85,505,262 (GRCm39)	T78S	possibly damaging	Het
Palm	A	G	10: 79,651,021 (GRCm39)	N149D	possibly damaging	Het
Pot1b	T	C	17: 55,960,451 (GRCm39)	I626M	possibly damaging	Het
Ptprt	T	A	2: 161,769,404 (GRCm39)	D487V	probably damaging	Het
Qpct	A	G	17: 79,378,201 (GRCm39)	I124V	probably benign	Het
Rbm12b1	T	A	4: 12,145,817 (GRCm39)	D596E	possibly damaging	Het
Rnf157	A	G	11: 116,245,585 (GRCm39)	C277R	probably damaging	Het
Rnf169	A	G	7: 99,574,535 (GRCm39)	S687P	possibly damaging	Het
Sfxn1	T	A	13: 54,246,469 (GRCm39)		probably null	Het
Slc6a21	T	C	7: 44,922,052 (GRCm39)	V649A	probably benign	Het
Slit3	A	T	11: 35,577,126 (GRCm39)	T1120S	probably damaging	Het
Spem2	A	T	11: 69,708,896 (GRCm39)	M58K	probably benign	Het
Sprr2k	T	A	3: 92,340,703 (GRCm39)		probably benign	Het
Sspo	T	C	6: 48,440,334 (GRCm39)		probably null	Het
Sv2b	A	T	7: 74,769,791 (GRCm39)	F584I	possibly damaging	Het
Tkfc	A	T	19: 10,572,690 (GRCm39)	M317K	probably null	Het
Tnni3k	C	T	3: 154,735,942 (GRCm39)	G134S	probably benign	Het
Ttn	C	T	2: 76,570,124 (GRCm39)	R26923H	probably damaging	Het
Tuba3b	T	C	6: 145,564,179 (GRCm39)	V75A	possibly damaging	Het
Unc79	T	C	12: 103,149,784 (GRCm39)	L2626P	probably damaging	Het
Usp24	A	T	4: 106,219,130 (GRCm39)	I491F	probably damaging	Het
V1ra8	A	T	6: 90,180,132 (GRCm39)	I112F	probably damaging	Het
Vmn1r29	T	G	6: 58,284,663 (GRCm39)	F128V	probably benign	Het
Wdr87-ps	A	G	7: 29,234,315 (GRCm39)		noncoding transcript	Het
Zfp157	T	A	5: 138,453,357 (GRCm39)		probably null	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
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
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'- AAATGCTGAGGCTGGGCTGAAC -3'
(R):5'- CTTTTCTCCTTCCAGGTGGTGACAG -3'

Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- GACAGTGGCAGTATACAGCTTTTTC -3'

Posted On

2014-03-28