Incidental Mutation 'IGL01398:Best2'
| ID |
79535 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Best2
|
| Ensembl Gene |
ENSMUSG00000052819 |
| Gene Name |
bestrophin 2 |
| Synonyms |
Vmd2l1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
IGL01398
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
85733831-85741160 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85735956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 326
(Y326F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059072]
[ENSMUST00000209322]
[ENSMUST00000209421]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059072
AA Change: Y326F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000053408
Gene: ENSMUSG00000052819
AA Change: Y326F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bestrophin
|
8 |
316 |
5.8e-118 |
PFAM |
|
low complexity region
|
340 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
501 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209322
AA Change: Y326F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209421
AA Change: Y326F
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| 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 is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the retinal pigment epithelium and colon. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit ocular hypotension. Both heterozygous and homozygous null mice show a greater reduction in intraocular pressure following treatment with brinzolamide. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
T |
C |
11: 69,772,548 (GRCm39) |
D521G |
probably damaging |
Het |
| Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
| Clca3a1 |
T |
C |
3: 144,722,512 (GRCm39) |
T287A |
possibly damaging |
Het |
| Cyp26a1 |
C |
T |
19: 37,686,395 (GRCm39) |
T13I |
probably damaging |
Het |
| Dhcr7 |
T |
C |
7: 143,395,056 (GRCm39) |
S188P |
probably damaging |
Het |
| Eml3 |
T |
G |
19: 8,911,598 (GRCm39) |
|
probably benign |
Het |
| Faf1 |
A |
T |
4: 109,593,793 (GRCm39) |
I124F |
probably damaging |
Het |
| Fkbp9 |
T |
A |
6: 56,837,790 (GRCm39) |
|
probably benign |
Het |
| Foxq1 |
G |
A |
13: 31,743,434 (GRCm39) |
D179N |
probably damaging |
Het |
| Frem1 |
C |
T |
4: 82,868,599 (GRCm39) |
V1443M |
possibly damaging |
Het |
| Gpnmb |
T |
A |
6: 49,027,365 (GRCm39) |
M363K |
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,535,762 (GRCm39) |
|
probably benign |
Het |
| Ints3 |
A |
G |
3: 90,300,130 (GRCm39) |
L929P |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,019,964 (GRCm39) |
I1823F |
probably damaging |
Het |
| Nudt9 |
T |
C |
5: 104,212,979 (GRCm39) |
*351Q |
probably null |
Het |
| Or2ak6 |
A |
T |
11: 58,592,593 (GRCm39) |
H22L |
probably benign |
Het |
| Or4c107 |
C |
T |
2: 88,789,193 (GRCm39) |
P128S |
probably damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,032 (GRCm39) |
F257I |
probably damaging |
Het |
| Pgr15l |
C |
T |
X: 96,121,785 (GRCm39) |
T392I |
probably benign |
Het |
| Sdk1 |
C |
A |
5: 141,923,332 (GRCm39) |
L318I |
probably benign |
Het |
| Sult1c2 |
C |
A |
17: 54,269,180 (GRCm39) |
V279L |
possibly damaging |
Het |
| Tek |
T |
C |
4: 94,738,014 (GRCm39) |
I688T |
probably damaging |
Het |
| Telo2 |
A |
T |
17: 25,324,748 (GRCm39) |
D477E |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,789,997 (GRCm39) |
Y884N |
probably damaging |
Het |
| Upf3a |
C |
A |
8: 13,836,221 (GRCm39) |
H92Q |
probably damaging |
Het |
| Vmn2r51 |
C |
T |
7: 9,836,341 (GRCm39) |
E147K |
probably benign |
Het |
| Vps54 |
A |
G |
11: 21,245,403 (GRCm39) |
|
probably benign |
Het |
| Zdhhc14 |
T |
C |
17: 5,762,738 (GRCm39) |
I214T |
possibly damaging |
Het |
|
| Other mutations in Best2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1165:Best2
|
UTSW |
8 |
85,737,789 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1446:Best2
|
UTSW |
8 |
85,734,593 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1715:Best2
|
UTSW |
8 |
85,737,852 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1928:Best2
|
UTSW |
8 |
85,737,882 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1944:Best2
|
UTSW |
8 |
85,737,390 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1951:Best2
|
UTSW |
8 |
85,737,858 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2006:Best2
|
UTSW |
8 |
85,739,818 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3691:Best2
|
UTSW |
8 |
85,737,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3918:Best2
|
UTSW |
8 |
85,736,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4693:Best2
|
UTSW |
8 |
85,737,832 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6149:Best2
|
UTSW |
8 |
85,739,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6696:Best2
|
UTSW |
8 |
85,737,873 (GRCm39) |
nonsense |
probably null |
|
|
R6857:Best2
|
UTSW |
8 |
85,734,452 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6983:Best2
|
UTSW |
8 |
85,736,405 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7008:Best2
|
UTSW |
8 |
85,739,840 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7266:Best2
|
UTSW |
8 |
85,734,393 (GRCm39) |
missense |
probably benign |
|
|
R7417:Best2
|
UTSW |
8 |
85,736,295 (GRCm39) |
splice site |
probably null |
|
|
R7782:Best2
|
UTSW |
8 |
85,736,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8015:Best2
|
UTSW |
8 |
85,735,983 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8864:Best2
|
UTSW |
8 |
85,735,942 (GRCm39) |
missense |
probably benign |
|
|
R9072:Best2
|
UTSW |
8 |
85,737,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Best2
|
UTSW |
8 |
85,740,147 (GRCm39) |
missense |
|
|
|
R9614:Best2
|
UTSW |
8 |
85,740,051 (GRCm39) |
missense |
|
|
|
| Posted On |
2013-11-05 |
Incidental Mutation