Incidental Mutation 'R5700:Best1'
ID 450873
Institutional Source Beutler Lab
Gene Symbol Best1
Ensembl Gene ENSMUSG00000037418
Gene Name bestrophin 1
Synonyms best macular dystrophy, mBest1, Vmd2
MMRRC Submission 043328-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5700 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 9962538-9978997 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 9974563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113828 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117346] [ENSMUST00000121418]
AlphaFold O88870
Predicted Effect probably benign
Transcript: ENSMUST00000117346
SMART Domains Protein: ENSMUSP00000113053
Gene: ENSMUSG00000037418

DomainStartEndE-ValueType
Pfam:Bestrophin 8 316 8.5e-111 PFAM
low complexity region 476 488 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121418
SMART Domains Protein: ENSMUSP00000113828
Gene: ENSMUSG00000024663

DomainStartEndE-ValueType
Pfam:Sec2p 20 129 4.3e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144273
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,786,633 (GRCm39) Q155L probably benign Het
Acadvl A C 11: 69,904,029 (GRCm39) Y242D probably damaging Het
Armc8 A G 9: 99,378,202 (GRCm39) probably null Het
Barx2 A T 9: 31,770,061 (GRCm39) F156I probably damaging Het
Btbd8 T C 5: 107,651,514 (GRCm39) S136P possibly damaging Het
Btla T A 16: 45,070,936 (GRCm39) Y298* probably null Het
Casr T A 16: 36,329,979 (GRCm39) I452F probably damaging Het
Ccser1 C A 6: 61,288,260 (GRCm39) P141H probably benign Het
Cr2 A G 1: 194,842,065 (GRCm39) V296A probably damaging Het
Csl T A 10: 99,594,877 (GRCm39) I63F probably damaging Het
Dbt G A 3: 116,313,952 (GRCm39) V40M probably damaging Het
Fam53b A T 7: 132,361,749 (GRCm39) L93Q probably damaging Het
Fdps T C 3: 89,002,956 (GRCm39) I105V probably damaging Het
Gm4884 A G 7: 40,692,643 (GRCm39) D204G probably benign Het
Gm5592 A G 7: 40,808,003 (GRCm39) probably benign Het
Gm7367 A T 7: 59,805,510 (GRCm39) noncoding transcript Het
Grid2 T A 6: 64,071,416 (GRCm39) V413D possibly damaging Het
Hgf C T 5: 16,815,122 (GRCm39) P471L probably damaging Het
Hoxc9 T C 15: 102,890,313 (GRCm39) Y77H possibly damaging Het
Hs6st3 C T 14: 119,376,199 (GRCm39) R125* probably null Het
Kdm4b T C 17: 56,658,700 (GRCm39) I15T possibly damaging Het
Klhl1 T C 14: 96,755,476 (GRCm39) N93S probably benign Het
Klhl6 G A 16: 19,775,968 (GRCm39) Q197* probably null Het
Medag T C 5: 149,345,682 (GRCm39) V7A probably benign Het
Mptx2 G A 1: 173,102,414 (GRCm39) L92F probably benign Het
Nckap5 C T 1: 125,904,662 (GRCm39) probably null Het
Obscn T C 11: 59,024,020 (GRCm39) K550R probably benign Het
Or2d36 A G 7: 106,746,748 (GRCm39) N75S probably benign Het
Or2w1b T A 13: 21,300,171 (GRCm39) V103E probably damaging Het
Or5h25 T A 16: 58,930,356 (GRCm39) I206F probably damaging Het
Or7a42 T C 10: 78,791,318 (GRCm39) I93T probably damaging Het
Parp6 T C 9: 59,532,010 (GRCm39) S101P probably damaging Het
Plcd3 T C 11: 102,964,589 (GRCm39) N594S probably benign Het
Plscr5 A T 9: 92,087,564 (GRCm39) K178* probably null Het
Ppp2r1b T C 9: 50,789,457 (GRCm39) Y443H probably damaging Het
Prnd G A 2: 131,795,263 (GRCm39) V128I probably benign Het
Rftn1 G T 17: 50,309,697 (GRCm39) P156Q probably damaging Het
Scmh1 T C 4: 120,374,143 (GRCm39) V445A probably benign Het
Serpinb6c A T 13: 34,083,291 (GRCm39) M41K probably damaging Het
Slc66a1 C T 4: 139,027,565 (GRCm39) S259N probably damaging Het
Spns1 A G 7: 125,971,641 (GRCm39) V303A possibly damaging Het
Ston1 T A 17: 88,951,767 (GRCm39) S639R probably damaging Het
Thbs4 T C 13: 92,913,461 (GRCm39) D153G probably benign Het
Timm44 T C 8: 4,324,171 (GRCm39) Y36C probably damaging Het
Trim34b G T 7: 103,985,618 (GRCm39) V418F probably damaging Het
Vmn1r72 C T 7: 11,404,350 (GRCm39) V33M probably damaging Het
Zcchc7 T C 4: 44,931,084 (GRCm39) V412A probably benign Het
Zfand1 T A 3: 10,406,079 (GRCm39) N210I probably damaging Het
Zfhx3 A G 8: 109,660,499 (GRCm39) H1251R probably damaging Het
Other mutations in Best1
AlleleSourceChrCoordTypePredicted EffectPPH 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
R1476:Best1 UTSW 19 9,967,853 (GRCm39) nonsense 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
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
Posted On 2017-01-03