Incidental Mutation 'IGL01563:Best1'
| ID |
90899 |
| 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 # |
IGL01563
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
9962538-9978997 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9964099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 454
(F454L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025563]
[ENSMUST00000117346]
|
| AlphaFold |
O88870 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025563
|
| SMART Domains |
Protein: ENSMUSP00000025563
Gene: ENSMUSG00000024661
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ferritin
|
18 |
159 |
1.5e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117346
AA Change: F454L
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113053
Gene: ENSMUSG00000037418
AA Change: F454L
| 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 |
|---|
| Alms1 |
A |
G |
6: 85,604,965 (GRCm39) |
E2205G |
probably damaging |
Het |
| Arid2 |
G |
A |
15: 96,270,278 (GRCm39) |
V1464I |
probably damaging |
Het |
| Axin2 |
A |
G |
11: 108,814,631 (GRCm39) |
Q173R |
probably damaging |
Het |
| CK137956 |
T |
G |
4: 127,864,428 (GRCm39) |
K67T |
possibly damaging |
Het |
| Col14a1 |
G |
A |
15: 55,351,337 (GRCm39) |
G1555R |
unknown |
Het |
| Csad |
G |
A |
15: 102,095,598 (GRCm39) |
S153F |
probably damaging |
Het |
| Cyp4f40 |
A |
T |
17: 32,892,930 (GRCm39) |
D315V |
probably damaging |
Het |
| Galnt3 |
G |
A |
2: 65,928,101 (GRCm39) |
A265V |
probably damaging |
Het |
| Gm5901 |
C |
A |
7: 105,026,722 (GRCm39) |
Y163* |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,356,074 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
A |
G |
18: 10,469,399 (GRCm39) |
D138G |
probably damaging |
Het |
| Has1 |
A |
T |
17: 18,063,924 (GRCm39) |
|
probably benign |
Het |
| Ighv1-42 |
A |
G |
12: 114,900,804 (GRCm39) |
S94P |
probably damaging |
Het |
| Katnb1 |
T |
A |
8: 95,824,787 (GRCm39) |
L569Q |
probably damaging |
Het |
| Nedd1 |
C |
T |
10: 92,534,031 (GRCm39) |
|
probably null |
Het |
| Or2b2 |
A |
G |
13: 21,887,243 (GRCm39) |
E24G |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,997 (GRCm39) |
I214N |
probably damaging |
Het |
| Pdcd4 |
G |
A |
19: 53,917,552 (GRCm39) |
R463H |
probably benign |
Het |
| Psmg2 |
G |
A |
18: 67,786,293 (GRCm39) |
V218I |
probably benign |
Het |
| Ro60 |
A |
G |
1: 143,637,120 (GRCm39) |
V364A |
probably benign |
Het |
| Rps19bp1 |
A |
G |
15: 80,145,532 (GRCm39) |
M84T |
probably benign |
Het |
| Sass6 |
A |
T |
3: 116,398,847 (GRCm39) |
D43V |
probably damaging |
Het |
| Senp6 |
G |
A |
9: 80,029,290 (GRCm39) |
S551N |
probably benign |
Het |
| Sh2d2a |
A |
G |
3: 87,759,432 (GRCm39) |
E273G |
probably damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,889,908 (GRCm39) |
|
probably benign |
Het |
| Smcr8 |
C |
T |
11: 60,674,671 (GRCm39) |
R816C |
possibly damaging |
Het |
| Trappc8 |
A |
T |
18: 20,970,103 (GRCm39) |
N962K |
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,656,604 (GRCm39) |
E677G |
probably damaging |
Het |
| Ubap2 |
G |
T |
4: 41,195,998 (GRCm39) |
P961T |
probably damaging |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,061 (GRCm39) |
V239A |
possibly damaging |
Het |
| Vps41 |
T |
C |
13: 18,966,897 (GRCm39) |
|
probably benign |
Het |
| Vwf |
A |
T |
6: 125,568,128 (GRCm39) |
D341V |
probably damaging |
Het |
| Zfp618 |
C |
T |
4: 62,998,133 (GRCm39) |
P45L |
probably benign |
Het |
|
| Other mutations in Best1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation