Incidental Mutation 'IGL02470:Best1'
| ID |
294693 |
| 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 # |
IGL02470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
9962538-9978997 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9970340 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 91
(S91G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117346]
|
| AlphaFold |
O88870 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117346
AA Change: S91G
PolyPhen 2
Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113053
Gene: ENSMUSG00000037418
AA Change: S91G
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
A |
G |
1: 165,395,295 (GRCm39) |
Y1422C |
probably damaging |
Het |
| Adnp |
T |
A |
2: 168,025,114 (GRCm39) |
K727I |
probably damaging |
Het |
| Akr1c21 |
A |
T |
13: 4,627,406 (GRCm39) |
N167Y |
probably damaging |
Het |
| Arl4a |
T |
C |
12: 40,086,747 (GRCm39) |
|
probably benign |
Het |
| BB014433 |
A |
T |
8: 15,092,803 (GRCm39) |
F17I |
unknown |
Het |
| Ccdc148 |
A |
T |
2: 58,891,911 (GRCm39) |
S235T |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dcc |
A |
T |
18: 72,088,153 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
G |
A |
9: 104,052,946 (GRCm39) |
T1672I |
probably benign |
Het |
| Elf3 |
A |
T |
1: 135,182,750 (GRCm39) |
F325Y |
probably damaging |
Het |
| Enpp2 |
A |
G |
15: 54,702,856 (GRCm39) |
L880P |
probably damaging |
Het |
| Fndc3b |
A |
G |
3: 27,515,869 (GRCm39) |
Y646H |
probably damaging |
Het |
| Fzd6 |
A |
T |
15: 38,899,952 (GRCm39) |
|
probably benign |
Het |
| Gnb1 |
T |
A |
4: 155,611,970 (GRCm39) |
|
probably benign |
Het |
| Mast1 |
C |
A |
8: 85,647,841 (GRCm39) |
G511V |
probably damaging |
Het |
| Mcmbp |
T |
C |
7: 128,306,345 (GRCm39) |
I424M |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 119,997,072 (GRCm39) |
T68A |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,035,910 (GRCm39) |
E1006G |
probably damaging |
Het |
| Ncstn |
A |
G |
1: 171,910,166 (GRCm39) |
|
probably null |
Het |
| Or1j12 |
A |
G |
2: 36,342,609 (GRCm39) |
D4G |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,929 (GRCm39) |
V9E |
probably damaging |
Het |
| Phip |
A |
T |
9: 82,772,507 (GRCm39) |
V1075D |
possibly damaging |
Het |
| Sanbr |
A |
T |
11: 23,565,222 (GRCm39) |
M255K |
probably damaging |
Het |
| Serpinb1a |
C |
T |
13: 33,034,376 (GRCm39) |
S5N |
probably damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,830,534 (GRCm39) |
N295S |
probably benign |
Het |
| Trmt13 |
A |
C |
3: 116,383,877 (GRCm39) |
|
probably null |
Het |
| Trp63 |
A |
C |
16: 25,639,134 (GRCm39) |
|
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably 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 |
|
IGL02129:Best1
|
APN |
19 |
9,970,285 (GRCm39) |
missense |
probably benign |
|
|
IGL02310:Best1
|
APN |
19 |
9,966,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
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