Incidental Mutation 'IGL02129:Best1'
ID280975
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Best1
Ensembl Gene ENSMUSG00000037418
Gene Namebestrophin 1
Synonymsbest macular dystrophy, mBest1, Vmd2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02129
Quality Score
Status
Chromosome19
Chromosomal Location9985174-10001633 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 9992921 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 109 (Q109L)
Ref Sequence ENSEMBL: ENSMUSP00000113053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117346]
Predicted Effect probably benign
Transcript: ENSMUST00000117346
AA Change: Q109L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113053
Gene: ENSMUSG00000037418
AA Change: Q109L

DomainStartEndE-ValueType
Pfam:Bestrophin 8 316 8.5e-111 PFAM
low complexity region 476 488 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144273
Coding Region Coverage
Validation Efficiency
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1a3 T A 7: 24,997,286 H293L probably damaging Het
AU040320 A G 4: 126,823,692 Y354C probably damaging Het
Bag4 T C 8: 25,768,085 T405A probably damaging Het
Bod1l G A 5: 41,821,850 T707I probably benign Het
Bora G A 14: 99,056,821 probably null Het
Btnl9 A C 11: 49,169,273 D464E probably damaging Het
Cebpe T A 14: 54,711,613 R116W probably damaging Het
Col6a6 T C 9: 105,736,340 probably benign Het
Copb2 T C 9: 98,585,923 probably benign Het
Ep300 A G 15: 81,586,636 E3G unknown Het
Fam117b A G 1: 59,981,423 H484R probably benign Het
Fgb T A 3: 83,043,418 K343M probably benign Het
Fkbpl C T 17: 34,645,978 T240M probably damaging Het
Gemin6 T C 17: 80,227,926 L105P probably damaging Het
Heatr3 T C 8: 88,158,271 probably benign Het
Itch C T 2: 155,217,988 probably benign Het
Kank3 C T 17: 33,817,491 P111L probably benign Het
Mthfsl T A 9: 88,715,536 I111F probably damaging Het
Mtor A T 4: 148,549,845 M2382L possibly damaging Het
Myh2 A G 11: 67,185,258 D757G probably benign Het
Naa35 A G 13: 59,609,525 D238G probably damaging Het
Nckap5 A T 1: 126,027,695 Y373* probably null Het
Olfr1436 T A 19: 12,298,458 I225F probably damaging Het
Pigm G A 1: 172,377,867 W390* probably null Het
Plxnb2 A G 15: 89,160,410 V1211A probably benign Het
Sh3yl1 T A 12: 30,942,877 probably benign Het
Spg11 T A 2: 122,095,686 Q709H probably damaging Het
Spr-ps1 A G 6: 85,155,822 noncoding transcript Het
Tc2n T C 12: 101,689,789 N208D probably damaging Het
Tdo2 C T 3: 81,958,925 V344M probably damaging Het
Ttll1 G A 15: 83,484,249 P403S probably benign Het
Usp20 T C 2: 31,004,450 V126A probably benign Het
Zfp109 T C 7: 24,236,629 T2A possibly damaging Het
Other mutations in Best1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01563:Best1 APN 19 9986735 missense probably benign 0.22
IGL02310:Best1 APN 19 9989152 missense probably benign 0.00
IGL02470:Best1 APN 19 9992976 missense probably benign 0.43
IGL02505:Best1 APN 19 9989150 missense probably damaging 1.00
R0366:Best1 UTSW 19 9992053 splice site probably null
R1476:Best1 UTSW 19 9990489 nonsense probably null
R1674:Best1 UTSW 19 9993226 critical splice donor site probably null
R2091:Best1 UTSW 19 9992079 missense probably benign 0.27
R2516:Best1 UTSW 19 9993311 nonsense probably null
R2866:Best1 UTSW 19 9986221 missense probably benign
R4693:Best1 UTSW 19 9997135 missense probably damaging 1.00
R4851:Best1 UTSW 19 9991698 missense probably damaging 1.00
R4895:Best1 UTSW 19 9992771 missense probably benign 0.00
R5633:Best1 UTSW 19 9992103 missense probably benign 0.29
R5700:Best1 UTSW 19 9997199 unclassified probably benign
R5837:Best1 UTSW 19 9989119 splice site probably null
R6893:Best1 UTSW 19 9997082 missense probably damaging 1.00
R7021:Best1 UTSW 19 9986779 missense probably benign
R7220:Best1 UTSW 19 9992115 missense probably benign 0.31
R7267:Best1 UTSW 19 9986813 missense probably benign 0.00
R7284:Best1 UTSW 19 9986373 critical splice acceptor site probably null
R7489:Best1 UTSW 19 9997046 missense possibly damaging 0.68
R7568:Best1 UTSW 19 9989275 critical splice acceptor site probably null
R7798:Best1 UTSW 19 9991671 missense probably damaging 1.00
R8192:Best1 UTSW 19 9986300 missense possibly damaging 0.52
X0065:Best1 UTSW 19 9986975 missense probably benign 0.03
Z1177:Best1 UTSW 19 9993239 missense probably damaging 1.00
Posted On2015-04-16