Incidental Mutation 'R3942:Best3'
ID 312905
Institutional Source Beutler Lab
Gene Symbol Best3
Ensembl Gene ENSMUSG00000020169
Gene Name bestrophin 3
Synonyms mBest4, Vmd2l3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R3942 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 116822219-116860945 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 116824579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 15 (F15Y)
Ref Sequence ENSEMBL: ENSMUSP00000020378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020378]
AlphaFold Q6H1V1
Predicted Effect possibly damaging
Transcript: ENSMUST00000020378
AA Change: F15Y

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000020378
Gene: ENSMUSG00000020169
AA Change: F15Y

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,330,908 (GRCm39) N6049S probably damaging Het
Aph1a C T 3: 95,801,573 (GRCm39) R31W probably damaging Het
Atp10b T C 11: 43,063,581 (GRCm39) V172A probably damaging Het
Atp13a2 T C 4: 140,733,733 (GRCm39) S1041P probably damaging Het
Brinp3 C A 1: 146,627,599 (GRCm39) D277E probably damaging Het
Crb1 A C 1: 139,265,211 (GRCm39) L69R possibly damaging Het
Crcp T C 5: 130,063,791 (GRCm39) probably null Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Hps3 T C 3: 20,051,103 (GRCm39) Y859C probably damaging Het
Irx5 C A 8: 93,086,314 (GRCm39) N132K probably damaging Het
Itgb2 A G 10: 77,393,867 (GRCm39) T436A probably benign Het
Kit A G 5: 75,769,978 (GRCm39) D130G probably benign Het
Krt12 A G 11: 99,312,922 (GRCm39) S41P unknown Het
Lypd6b G T 2: 49,833,552 (GRCm39) S64I probably damaging Het
Mpc1 T A 17: 8,507,420 (GRCm39) probably null Het
Or4c109 T A 2: 88,818,455 (GRCm39) L30F probably benign Het
Or5b95 A T 19: 12,657,768 (GRCm39) M99L probably benign Het
Pard3b T A 1: 62,198,611 (GRCm39) I233N probably damaging Het
Pcdh1 A G 18: 38,332,511 (GRCm39) V164A probably benign Het
Pclo A G 5: 14,729,932 (GRCm39) probably benign Het
Pkhd1l1 T C 15: 44,455,422 (GRCm39) probably null Het
Slco1a7 A G 6: 141,673,440 (GRCm39) I366T probably damaging Het
Spata31d1d T C 13: 59,875,276 (GRCm39) Q753R probably benign Het
Stxbp6 A G 12: 44,949,641 (GRCm39) probably null Het
Trav6-5 T C 14: 53,728,838 (GRCm39) S32P probably benign Het
Zp3r A C 1: 130,504,791 (GRCm39) D470E possibly 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
R4260:Best3 UTSW 10 116,860,131 (GRCm39) missense probably benign
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'- CTATGAGAGGAGTGCGTGATGC -3'
(R):5'- GTTACATAATGCAGAGGCTAGCG -3'

Sequencing Primer
(F):5'- CATGGAGGGTGGGTCAGC -3'
(R):5'- CAACCAAGGGGATCCAGTTTTTG -3'
Posted On 2015-04-30