Incidental Mutation 'IGL02129:Best1'
| ID |
280975 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Best1
|
| Ensembl Gene |
ENSMUSG00000037418 |
| Gene Name |
bestrophin 1 |
| Synonyms |
best macular dystrophy, mBest1, Vmd2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02129
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
9962538-9978997 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9970285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 109
(Q109L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117346]
|
| AlphaFold |
O88870 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp1a3 |
T |
A |
7: 24,696,711 (GRCm39) |
H293L |
probably damaging |
Het |
| AU040320 |
A |
G |
4: 126,717,485 (GRCm39) |
Y354C |
probably damaging |
Het |
| Bag4 |
T |
C |
8: 26,258,113 (GRCm39) |
T405A |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,979,193 (GRCm39) |
T707I |
probably benign |
Het |
| Bora |
G |
A |
14: 99,294,257 (GRCm39) |
|
probably null |
Het |
| Btnl9 |
A |
C |
11: 49,060,100 (GRCm39) |
D464E |
probably damaging |
Het |
| Cebpe |
T |
A |
14: 54,949,070 (GRCm39) |
R116W |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,613,539 (GRCm39) |
|
probably benign |
Het |
| Copb2 |
T |
C |
9: 98,467,976 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,470,837 (GRCm39) |
E3G |
unknown |
Het |
| Fam117b |
A |
G |
1: 60,020,582 (GRCm39) |
H484R |
probably benign |
Het |
| Fgb |
T |
A |
3: 82,950,725 (GRCm39) |
K343M |
probably benign |
Het |
| Fkbpl |
C |
T |
17: 34,864,952 (GRCm39) |
T240M |
probably damaging |
Het |
| Gemin6 |
T |
C |
17: 80,535,355 (GRCm39) |
L105P |
probably damaging |
Het |
| Heatr3 |
T |
C |
8: 88,884,899 (GRCm39) |
|
probably benign |
Het |
| Itch |
C |
T |
2: 155,059,908 (GRCm39) |
|
probably benign |
Het |
| Kank3 |
C |
T |
17: 34,036,465 (GRCm39) |
P111L |
probably benign |
Het |
| Mthfsl |
T |
A |
9: 88,597,589 (GRCm39) |
I111F |
probably damaging |
Het |
| Mtor |
A |
T |
4: 148,634,302 (GRCm39) |
M2382L |
possibly damaging |
Het |
| Myh2 |
A |
G |
11: 67,076,084 (GRCm39) |
D757G |
probably benign |
Het |
| Naa35 |
A |
G |
13: 59,757,339 (GRCm39) |
D238G |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,955,432 (GRCm39) |
Y373* |
probably null |
Het |
| Or5an10 |
T |
A |
19: 12,275,822 (GRCm39) |
I225F |
probably damaging |
Het |
| Pigm |
G |
A |
1: 172,205,434 (GRCm39) |
W390* |
probably null |
Het |
| Plxnb2 |
A |
G |
15: 89,044,613 (GRCm39) |
V1211A |
probably benign |
Het |
| Sh3yl1 |
T |
A |
12: 30,992,876 (GRCm39) |
|
probably benign |
Het |
| Spg11 |
T |
A |
2: 121,926,167 (GRCm39) |
Q709H |
probably damaging |
Het |
| Spr-ps1 |
A |
G |
6: 85,132,804 (GRCm39) |
|
noncoding transcript |
Het |
| Tc2n |
T |
C |
12: 101,656,048 (GRCm39) |
N208D |
probably damaging |
Het |
| Tdo2 |
C |
T |
3: 81,866,232 (GRCm39) |
V344M |
probably damaging |
Het |
| Ttll1 |
G |
A |
15: 83,368,450 (GRCm39) |
P403S |
probably benign |
Het |
| Usp20 |
T |
C |
2: 30,894,462 (GRCm39) |
V126A |
probably benign |
Het |
| Zfp109 |
T |
C |
7: 23,936,054 (GRCm39) |
T2A |
possibly damaging |
Het |
|
| Other mutations in Best1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01563:Best1
|
APN |
19 |
9,964,099 (GRCm39) |
missense |
probably benign |
0.22 |
|
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 |
|
R5700:Best1
|
UTSW |
19 |
9,974,563 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation