Incidental Mutation 'IGL02493:Best3'
ID295729
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Best3
Ensembl Gene ENSMUSG00000020169
Gene Namebestrophin 3
SynonymsmBest4, Vmd2l3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #IGL02493
Quality Score
Status
Chromosome10
Chromosomal Location116986314-117025040 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 117024601 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 589 (R589W)
Ref Sequence ENSEMBL: ENSMUSP00000020378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020378]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020378
AA Change: R589W

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000020378
Gene: ENSMUSG00000020169
AA Change: R589W

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T G 15: 60,016,463 S43R probably benign Het
Afap1l1 G T 18: 61,737,523 Q595K possibly damaging Het
Alpk2 T C 18: 65,350,331 E202G probably benign Het
Ap3b1 T C 13: 94,404,020 V150A probably damaging Het
BC037034 T C 5: 138,263,170 probably null Het
Bcas3 T C 11: 85,495,882 I381T probably damaging Het
Birc6 A G 17: 74,652,059 probably benign Het
Clcn4 A C 7: 7,284,244 D728E probably damaging Het
Commd2 C A 3: 57,651,659 probably benign Het
Csrp1 T A 1: 135,751,063 F175L probably damaging Het
Eif3c A T 7: 126,558,901 N294K probably damaging Het
Fam184a A G 10: 53,694,693 probably null Het
Fndc1 G T 17: 7,775,545 P297Q unknown Het
Galnt13 A G 2: 54,880,137 I314V probably benign Het
Gimap6 T A 6: 48,702,669 K144N probably damaging Het
Gm10188 A T 1: 132,229,405 C74* probably null Het
Gpatch2 C T 1: 187,233,128 probably benign Het
Hace1 T A 10: 45,588,419 M39K probably damaging Het
Has2 G T 15: 56,667,924 T465K probably damaging Het
Homer3 T A 8: 70,290,071 V144D probably benign Het
Ift140 A T 17: 25,087,924 K878* probably null Het
Ikbip A G 10: 91,096,594 N367D probably damaging Het
Immt T C 6: 71,844,716 probably benign Het
Isca1 A G 13: 59,762,782 V32A possibly damaging Het
Kcnu1 T A 8: 25,937,520 N288K possibly damaging Het
Kmt2b C T 7: 30,569,511 probably benign Het
Lrguk T A 6: 34,129,192 D717E probably benign Het
Lrp1 C T 10: 127,581,778 G1037E probably damaging Het
Man2a2 T A 7: 80,369,615 Q37L possibly damaging Het
Msh4 C T 3: 153,877,908 probably null Het
Mtf1 C T 4: 124,821,319 R246W probably damaging Het
Mvb12b A G 2: 33,840,209 S57P probably benign Het
Nat8f5 A G 6: 85,817,562 F139L probably benign Het
Npepps A G 11: 97,238,159 F400L probably damaging Het
Ntsr2 T A 12: 16,658,389 S248T possibly damaging Het
Olfr1450 T C 19: 12,953,774 F62L probably benign Het
Olfr480 A T 7: 108,065,805 M331K possibly damaging Het
Oplah G A 15: 76,300,955 R853* probably null Het
Plekhh2 G A 17: 84,606,963 probably null Het
Pskh1 G A 8: 105,929,756 V355I probably benign Het
Rab31 A T 17: 65,717,552 M44K possibly damaging Het
Slc5a4b A G 10: 76,075,015 V329A probably damaging Het
Slc5a7 A G 17: 54,293,880 Y76H probably damaging Het
Treh A T 9: 44,682,949 D164V possibly damaging Het
Trim6 A G 7: 104,232,640 Y366C probably benign Het
Ubr7 T C 12: 102,768,220 V251A probably benign Het
Vmn1r35 T A 6: 66,679,479 N69I possibly damaging Het
Zan A G 5: 137,435,706 L2255P unknown Het
Other mutations in Best3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Best3 APN 10 116988727 missense probably damaging 1.00
IGL00158:Best3 APN 10 117004541 splice site probably benign
IGL02713:Best3 APN 10 117024529 missense probably benign 0.00
IGL03178:Best3 APN 10 116988779 missense probably damaging 1.00
IGL03355:Best3 APN 10 116993105 missense possibly damaging 0.82
R0531:Best3 UTSW 10 117004375 splice site probably benign
R0578:Best3 UTSW 10 117008999 missense probably benign 0.06
R1671:Best3 UTSW 10 117024668 missense possibly damaging 0.58
R1769:Best3 UTSW 10 117023978 missense probably benign 0.00
R1860:Best3 UTSW 10 116993273 missense probably damaging 1.00
R1935:Best3 UTSW 10 117024386 missense probably benign
R2103:Best3 UTSW 10 117002594 missense probably benign 0.01
R3942:Best3 UTSW 10 116988674 missense possibly damaging 0.49
R4260:Best3 UTSW 10 117024226 missense probably benign
R4332:Best3 UTSW 10 117002524 missense probably benign 0.37
R4741:Best3 UTSW 10 117023996 missense probably benign 0.06
R4760:Best3 UTSW 10 117024794 missense probably benign 0.00
R4896:Best3 UTSW 10 117024555 missense probably benign 0.00
R4912:Best3 UTSW 10 117008981 missense probably damaging 1.00
R5023:Best3 UTSW 10 116988742 missense probably benign 0.06
R5087:Best3 UTSW 10 117009002 missense probably benign 0.01
R5213:Best3 UTSW 10 117024472 missense probably benign 0.01
R5457:Best3 UTSW 10 117004511 missense probably damaging 1.00
R5928:Best3 UTSW 10 117007627 missense probably damaging 1.00
R5982:Best3 UTSW 10 117004417 missense probably damaging 0.98
R6335:Best3 UTSW 10 117002651 missense probably benign 0.32
R7068:Best3 UTSW 10 116988638 missense probably damaging 1.00
R7469:Best3 UTSW 10 117004385 missense probably damaging 1.00
RF014:Best3 UTSW 10 117004505 missense probably damaging 1.00
Z1088:Best3 UTSW 10 117024170 missense probably benign 0.00
Z1176:Best3 UTSW 10 117024622 missense probably benign 0.24
Posted On2015-04-16