Incidental Mutation 'IGL03355:Best3'
ID 419909
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Best3
Ensembl Gene ENSMUSG00000020169
Gene Name bestrophin 3
Synonyms mBest4, Vmd2l3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # IGL03355
Quality Score
Status
Chromosome 10
Chromosomal Location 116986314-117025040 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 116993105 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 97 (F97L)
Ref Sequence ENSEMBL: ENSMUSP00000020378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020378]
AlphaFold Q6H1V1
Predicted Effect possibly damaging
Transcript: ENSMUST00000020378
AA Change: F97L

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020378
Gene: ENSMUSG00000020169
AA Change: F97L

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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610002M06Rik C A X: 107,788,283 (GRCm38) V180F possibly damaging Het
Actrt1 T C X: 46,329,747 (GRCm38) V213A probably benign Het
Adam28 A T 14: 68,634,803 (GRCm38) probably benign Het
Apeh T C 9: 108,086,445 (GRCm38) H557R probably benign Het
Atmin T A 8: 116,957,425 (GRCm38) L608* probably null Het
B3gnt5 A T 16: 19,769,153 (GRCm38) M41L probably benign Het
Col7a1 G A 9: 108,978,160 (GRCm38) V2486M unknown Het
Crym T C 7: 120,199,313 (GRCm38) probably null Het
Cubn T C 2: 13,478,057 (GRCm38) probably null Het
Dnah7b A G 1: 46,119,304 (GRCm38) D349G probably benign Het
Eea1 T C 10: 96,042,212 (GRCm38) probably benign Het
Emc1 C T 4: 139,371,593 (GRCm38) probably benign Het
Eps8 T C 6: 137,512,145 (GRCm38) probably benign Het
Ereg A G 5: 91,088,581 (GRCm38) probably benign Het
Faah G A 4: 116,002,528 (GRCm38) P369S probably benign Het
Fam135a A T 1: 24,029,168 (GRCm38) N703K possibly damaging Het
Frmpd1 T C 4: 45,279,140 (GRCm38) S622P probably damaging Het
Gm10030 A G 9: 111,006,773 (GRCm38) noncoding transcript Het
Gpr179 A T 11: 97,337,608 (GRCm38) S1240R possibly damaging Het
Hax1 A T 3: 89,997,447 (GRCm38) H146Q possibly damaging Het
Ift46 A G 9: 44,782,148 (GRCm38) N31D possibly damaging Het
Kel C T 6: 41,698,887 (GRCm38) probably null Het
Khk A T 5: 30,929,560 (GRCm38) I108L probably benign Het
Morc4 T C X: 139,849,682 (GRCm38) N375S probably null Het
Mta3 A T 17: 83,800,045 (GRCm38) probably benign Het
Nacc2 T C 2: 26,062,237 (GRCm38) K369R probably damaging Het
Nkap T C X: 37,139,670 (GRCm38) probably benign Het
Obscn A T 11: 59,037,792 (GRCm38) L6016Q probably damaging Het
Olfr25 A T 9: 38,329,656 (GRCm38) Q20L probably benign Het
Olfr589 T C 7: 103,155,201 (GRCm38) E182G probably damaging Het
Pde4c T A 8: 70,746,595 (GRCm38) L182Q probably damaging Het
Pla2g10 G T 16: 13,730,420 (GRCm38) probably null Het
Rap1gap2 T A 11: 74,412,344 (GRCm38) I426F probably damaging Het
Rbm33 C A 5: 28,391,061 (GRCm38) probably benign Het
Rnf139 C A 15: 58,900,032 (GRCm38) D635E probably benign Het
Sar1a T C 10: 61,684,939 (GRCm38) V15A possibly damaging Het
Scarb1 A C 5: 125,289,702 (GRCm38) S56A probably benign Het
Scn3a T C 2: 65,460,568 (GRCm38) K1945E possibly damaging Het
Sec62 G A 3: 30,809,922 (GRCm38) G118R unknown Het
Sgce T A 6: 4,689,738 (GRCm38) Q356L probably damaging Het
Slco4c1 A T 1: 96,842,507 (GRCm38) Y277* probably null Het
Smarca4 C T 9: 21,635,836 (GRCm38) T219I probably benign Het
Sphkap A T 1: 83,280,503 (GRCm38) I173N probably damaging Het
Spred3 C T 7: 29,161,572 (GRCm38) C394Y unknown Het
Stra6l A G 4: 45,873,689 (GRCm38) D283G probably benign Het
Tipin A T 9: 64,288,124 (GRCm38) Q4L probably benign Het
Tmprss11c T A 5: 86,231,871 (GRCm38) I380F probably benign Het
Tymp T C 15: 89,375,016 (GRCm38) D195G possibly damaging Het
Ugt2b34 T A 5: 86,906,685 (GRCm38) Y79F probably benign Het
Vmn2r16 T A 5: 109,363,714 (GRCm38) S596T possibly damaging Het
Wdhd1 A G 14: 47,243,889 (GRCm38) S1024P possibly damaging Het
Other mutations in Best3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Best3 APN 10 116,988,727 (GRCm38) missense probably damaging 1.00
IGL00158:Best3 APN 10 117,004,541 (GRCm38) splice site probably benign
IGL02493:Best3 APN 10 117,024,601 (GRCm38) missense possibly damaging 0.95
IGL02713:Best3 APN 10 117,024,529 (GRCm38) missense probably benign 0.00
IGL03178:Best3 APN 10 116,988,779 (GRCm38) missense probably damaging 1.00
R0531:Best3 UTSW 10 117,004,375 (GRCm38) splice site probably benign
R0578:Best3 UTSW 10 117,008,999 (GRCm38) missense probably benign 0.06
R1671:Best3 UTSW 10 117,024,668 (GRCm38) missense possibly damaging 0.58
R1769:Best3 UTSW 10 117,023,978 (GRCm38) missense probably benign 0.00
R1860:Best3 UTSW 10 116,993,273 (GRCm38) missense probably damaging 1.00
R1935:Best3 UTSW 10 117,024,386 (GRCm38) missense probably benign
R2103:Best3 UTSW 10 117,002,594 (GRCm38) missense probably benign 0.01
R3942:Best3 UTSW 10 116,988,674 (GRCm38) missense possibly damaging 0.49
R4260:Best3 UTSW 10 117,024,226 (GRCm38) missense probably benign
R4332:Best3 UTSW 10 117,002,524 (GRCm38) missense probably benign 0.37
R4741:Best3 UTSW 10 117,023,996 (GRCm38) missense probably benign 0.06
R4760:Best3 UTSW 10 117,024,794 (GRCm38) missense probably benign 0.00
R4896:Best3 UTSW 10 117,024,555 (GRCm38) missense probably benign 0.00
R4912:Best3 UTSW 10 117,008,981 (GRCm38) missense probably damaging 1.00
R5023:Best3 UTSW 10 116,988,742 (GRCm38) missense probably benign 0.06
R5087:Best3 UTSW 10 117,009,002 (GRCm38) missense probably benign 0.01
R5213:Best3 UTSW 10 117,024,472 (GRCm38) missense probably benign 0.01
R5457:Best3 UTSW 10 117,004,511 (GRCm38) missense probably damaging 1.00
R5928:Best3 UTSW 10 117,007,627 (GRCm38) missense probably damaging 1.00
R5982:Best3 UTSW 10 117,004,417 (GRCm38) missense probably damaging 0.98
R6335:Best3 UTSW 10 117,002,651 (GRCm38) missense probably benign 0.32
R7068:Best3 UTSW 10 116,988,638 (GRCm38) missense probably damaging 1.00
R7469:Best3 UTSW 10 117,004,385 (GRCm38) missense probably damaging 1.00
R8139:Best3 UTSW 10 117,004,426 (GRCm38) missense probably damaging 1.00
R8306:Best3 UTSW 10 117,002,610 (GRCm38) missense probably damaging 1.00
R8715:Best3 UTSW 10 116,993,066 (GRCm38) missense probably damaging 1.00
R8847:Best3 UTSW 10 116,988,667 (GRCm38) missense possibly damaging 0.83
R9104:Best3 UTSW 10 117,024,775 (GRCm38) missense probably benign
R9506:Best3 UTSW 10 117,003,921 (GRCm38) missense probably damaging 0.99
R9579:Best3 UTSW 10 116,993,195 (GRCm38) missense probably damaging 0.96
R9635:Best3 UTSW 10 117,002,545 (GRCm38) missense probably damaging 0.99
RF014:Best3 UTSW 10 117,004,505 (GRCm38) missense probably damaging 1.00
Z1088:Best3 UTSW 10 117,024,170 (GRCm38) missense probably benign 0.00
Z1176:Best3 UTSW 10 117,024,622 (GRCm38) missense probably benign 0.24
Posted On 2016-08-02