Incidental Mutation 'R4260:Best3'
ID 322620
Institutional Source Beutler Lab
Gene Symbol Best3
Ensembl Gene ENSMUSG00000020169
Gene Name bestrophin 3
Synonyms mBest4, Vmd2l3
MMRRC Submission 041073-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R4260 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 116822219-116860945 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116860131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 464 (M464L)
Ref Sequence ENSEMBL: ENSMUSP00000020378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020378]
AlphaFold Q6H1V1
Predicted Effect probably benign
Transcript: ENSMUST00000020378
AA Change: M464L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020378
Gene: ENSMUSG00000020169
AA Change: M464L

DomainStartEndE-ValueType
Pfam:Bestrophin 8 316 7.3e-115 PFAM
low complexity region 405 416 N/A INTRINSIC
low complexity region 473 492 N/A INTRINSIC
low complexity region 561 576 N/A INTRINSIC
Meta Mutation Damage Score 0.0707 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 G A 18: 80,180,742 (GRCm39) S52L possibly damaging Het
Ccdc83 T G 7: 89,877,599 (GRCm39) D281A possibly damaging Het
Ccnf G A 17: 24,445,741 (GRCm39) P502S probably damaging Het
Cd109 T A 9: 78,543,745 (GRCm39) S96R possibly damaging Het
Cep290 A C 10: 100,350,354 (GRCm39) E649D probably damaging Het
Cntnap5a G T 1: 116,374,325 (GRCm39) A946S probably benign Het
Csnk2a2 A T 8: 96,184,027 (GRCm39) D177E probably benign Het
Cyld T C 8: 89,468,019 (GRCm39) S551P probably damaging Het
Degs1 A T 1: 182,106,806 (GRCm39) I151N probably benign Het
Dnah12 A G 14: 26,520,883 (GRCm39) I1901V probably benign Het
Eif2ak3 G A 6: 70,866,497 (GRCm39) R597H probably damaging Het
Epg5 A T 18: 78,002,336 (GRCm39) H585L possibly damaging Het
Epg5 G C 18: 78,058,914 (GRCm39) W1889C probably damaging Het
Fam220a G C 5: 143,548,762 (GRCm39) R58P possibly damaging Het
Gemin5 G A 11: 58,059,185 (GRCm39) A32V probably damaging Het
Gm11189 A C 11: 53,091,703 (GRCm39) noncoding transcript Het
Grb2 A G 11: 115,540,642 (GRCm39) I85T probably damaging Het
Herc1 CTGAGGACTCTTTG CTG 9: 66,355,630 (GRCm39) probably null Het
Ide A C 19: 37,306,585 (GRCm39) S63A unknown Het
Kel A T 6: 41,663,357 (GRCm39) probably benign Het
Kifap3 C A 1: 163,689,597 (GRCm39) T527K probably damaging Het
Klra10 A G 6: 130,249,644 (GRCm39) W214R probably damaging Het
Luc7l3 A T 11: 94,186,876 (GRCm39) probably benign Het
Mrpl4 A G 9: 20,918,988 (GRCm39) E211G possibly damaging Het
Or4k39 T A 2: 111,238,850 (GRCm39) noncoding transcript Het
Or52n5 A C 7: 104,587,803 (GRCm39) E23D probably damaging Het
Pbld2 T C 10: 62,860,186 (GRCm39) probably benign Het
Plcg1 T C 2: 160,593,627 (GRCm39) probably null Het
Ppcs A G 4: 119,279,106 (GRCm39) F149L probably damaging Het
Ptpdc1 A G 13: 48,733,234 (GRCm39) M802T probably benign Het
Ptprf A G 4: 118,083,280 (GRCm39) F909S possibly damaging Het
Raph1 A T 1: 60,542,124 (GRCm39) M330K possibly damaging Het
Rprd1a G A 18: 24,621,352 (GRCm39) R276C possibly damaging Het
Scg3 A G 9: 75,558,979 (GRCm39) Y406H probably damaging Het
Setdb1 G A 3: 95,234,808 (GRCm39) S965F probably damaging Het
Sgo2b A T 8: 64,381,330 (GRCm39) F501I probably benign Het
Slc38a4 A G 15: 96,896,374 (GRCm39) Y498H probably damaging Het
Slc5a4b A G 10: 75,939,686 (GRCm39) L150P probably damaging Het
Spata17 T A 1: 186,780,677 (GRCm39) T357S possibly damaging Het
Tmt1a A G 15: 100,210,951 (GRCm39) D141G probably benign Het
Zap70 T A 1: 36,818,189 (GRCm39) probably benign Het
Zfp985 G A 4: 147,668,029 (GRCm39) C299Y probably damaging Het
Other mutations in Best3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Best3 APN 10 116,824,632 (GRCm39) missense probably damaging 1.00
IGL00158:Best3 APN 10 116,840,446 (GRCm39) splice site probably benign
IGL02493:Best3 APN 10 116,860,506 (GRCm39) missense possibly damaging 0.95
IGL02713:Best3 APN 10 116,860,434 (GRCm39) missense probably benign 0.00
IGL03178:Best3 APN 10 116,824,684 (GRCm39) missense probably damaging 1.00
IGL03355:Best3 APN 10 116,829,010 (GRCm39) missense possibly damaging 0.82
R0531:Best3 UTSW 10 116,840,280 (GRCm39) splice site probably benign
R0578:Best3 UTSW 10 116,844,904 (GRCm39) missense probably benign 0.06
R1671:Best3 UTSW 10 116,860,573 (GRCm39) missense possibly damaging 0.58
R1769:Best3 UTSW 10 116,859,883 (GRCm39) missense probably benign 0.00
R1860:Best3 UTSW 10 116,829,178 (GRCm39) missense probably damaging 1.00
R1935:Best3 UTSW 10 116,860,291 (GRCm39) missense probably benign
R2103:Best3 UTSW 10 116,838,499 (GRCm39) missense probably benign 0.01
R3942:Best3 UTSW 10 116,824,579 (GRCm39) missense possibly damaging 0.49
R4332:Best3 UTSW 10 116,838,429 (GRCm39) missense probably benign 0.37
R4741:Best3 UTSW 10 116,859,901 (GRCm39) missense probably benign 0.06
R4760:Best3 UTSW 10 116,860,699 (GRCm39) missense probably benign 0.00
R4896:Best3 UTSW 10 116,860,460 (GRCm39) missense probably benign 0.00
R4912:Best3 UTSW 10 116,844,886 (GRCm39) missense probably damaging 1.00
R5023:Best3 UTSW 10 116,824,647 (GRCm39) missense probably benign 0.06
R5087:Best3 UTSW 10 116,844,907 (GRCm39) missense probably benign 0.01
R5213:Best3 UTSW 10 116,860,377 (GRCm39) missense probably benign 0.01
R5457:Best3 UTSW 10 116,840,416 (GRCm39) missense probably damaging 1.00
R5928:Best3 UTSW 10 116,843,532 (GRCm39) missense probably damaging 1.00
R5982:Best3 UTSW 10 116,840,322 (GRCm39) missense probably damaging 0.98
R6335:Best3 UTSW 10 116,838,556 (GRCm39) missense probably benign 0.32
R7068:Best3 UTSW 10 116,824,543 (GRCm39) missense probably damaging 1.00
R7469:Best3 UTSW 10 116,840,290 (GRCm39) missense probably damaging 1.00
R8139:Best3 UTSW 10 116,840,331 (GRCm39) missense probably damaging 1.00
R8306:Best3 UTSW 10 116,838,515 (GRCm39) missense probably damaging 1.00
R8715:Best3 UTSW 10 116,828,971 (GRCm39) missense probably damaging 1.00
R8847:Best3 UTSW 10 116,824,572 (GRCm39) missense possibly damaging 0.83
R9104:Best3 UTSW 10 116,860,680 (GRCm39) missense probably benign
R9506:Best3 UTSW 10 116,839,826 (GRCm39) missense probably damaging 0.99
R9579:Best3 UTSW 10 116,829,100 (GRCm39) missense probably damaging 0.96
R9635:Best3 UTSW 10 116,838,450 (GRCm39) missense probably damaging 0.99
RF014:Best3 UTSW 10 116,840,410 (GRCm39) missense probably damaging 1.00
Z1088:Best3 UTSW 10 116,860,075 (GRCm39) missense probably benign 0.00
Z1176:Best3 UTSW 10 116,860,527 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- AAACCGGCACTCAGTGATG -3'
(R):5'- GAGTCATGCTGATGGCTGTC -3'

Sequencing Primer
(F):5'- GTCAAGCGCTTCCTGAGTAC -3'
(R):5'- CTGTCTGCTGAGAACGCTG -3'
Posted On 2015-06-20