Incidental Mutation 'IGL02713:Best3'
| ID |
304644 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Best3
|
| Ensembl Gene |
ENSMUSG00000020169 |
| Gene Name |
bestrophin 3 |
| Synonyms |
mBest4, Vmd2l3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
IGL02713
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
116822219-116860945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 116860434 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 565
(F565V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020378]
|
| AlphaFold |
Q6H1V1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020378
AA Change: F565V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000020378
Gene: ENSMUSG00000020169
AA Change: F565V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bestrophin
|
8 |
316 |
7.3e-115 |
PFAM |
|
low complexity region
|
405 |
416 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
492 |
N/A |
INTRINSIC |
|
low complexity region
|
561 |
576 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
G |
7: 78,749,992 (GRCm39) |
T1588A |
possibly damaging |
Het |
| Apeh |
A |
T |
9: 107,962,871 (GRCm39) |
L700Q |
probably damaging |
Het |
| Arid1b |
T |
C |
17: 5,393,286 (GRCm39) |
I2272T |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,886,319 (GRCm39) |
N521S |
probably benign |
Het |
| Cd209f |
T |
A |
8: 4,153,732 (GRCm39) |
R191S |
probably benign |
Het |
| Clec4e |
A |
T |
6: 123,263,263 (GRCm39) |
Y63* |
probably null |
Het |
| Cracdl |
C |
A |
1: 37,663,218 (GRCm39) |
K893N |
possibly damaging |
Het |
| Cyp26c1 |
C |
T |
19: 37,681,667 (GRCm39) |
T490M |
probably damaging |
Het |
| Cyp2b9 |
T |
A |
7: 25,872,945 (GRCm39) |
H29Q |
probably benign |
Het |
| Cyp2d10 |
A |
C |
15: 82,290,283 (GRCm39) |
|
probably benign |
Het |
| Dgat1 |
C |
A |
15: 76,387,734 (GRCm39) |
R291L |
probably damaging |
Het |
| Dyrk1a |
C |
A |
16: 94,486,204 (GRCm39) |
|
probably benign |
Het |
| Esp4 |
T |
C |
17: 40,913,297 (GRCm39) |
F55L |
probably benign |
Het |
| Fam227a |
G |
A |
15: 79,520,997 (GRCm39) |
|
probably benign |
Het |
| Ggt1 |
T |
C |
10: 75,410,178 (GRCm39) |
Y37H |
probably damaging |
Het |
| Grsf1 |
A |
T |
5: 88,820,589 (GRCm39) |
I64K |
probably damaging |
Het |
| Itga6 |
C |
T |
2: 71,647,057 (GRCm39) |
T89I |
possibly damaging |
Het |
| Jph2 |
T |
C |
2: 163,217,837 (GRCm39) |
T280A |
probably damaging |
Het |
| Lipm |
A |
G |
19: 34,078,570 (GRCm39) |
M1V |
probably null |
Het |
| Nbeal1 |
C |
T |
1: 60,274,396 (GRCm39) |
A513V |
possibly damaging |
Het |
| Or10a3 |
G |
A |
7: 108,480,060 (GRCm39) |
T251I |
probably damaging |
Het |
| Or10a48 |
A |
T |
7: 108,424,801 (GRCm39) |
M135K |
probably damaging |
Het |
| Or10q1b |
A |
T |
19: 13,682,553 (GRCm39) |
I121F |
possibly damaging |
Het |
| Or13a28 |
A |
T |
7: 140,217,829 (GRCm39) |
I72F |
probably damaging |
Het |
| Or5ak25 |
T |
A |
2: 85,268,981 (GRCm39) |
I174F |
probably damaging |
Het |
| Or8b101 |
C |
T |
9: 38,020,623 (GRCm39) |
P214S |
probably damaging |
Het |
| Orc6 |
A |
G |
8: 86,034,215 (GRCm39) |
E146G |
probably benign |
Het |
| Patl2 |
A |
G |
2: 121,956,328 (GRCm39) |
S179P |
probably benign |
Het |
| Pdzd8 |
C |
A |
19: 59,333,890 (GRCm39) |
G44C |
probably damaging |
Het |
| Phox2b |
A |
G |
5: 67,253,938 (GRCm39) |
|
probably benign |
Het |
| Ppp4r3b |
T |
G |
11: 29,138,445 (GRCm39) |
H264Q |
probably damaging |
Het |
| Ptprk |
T |
C |
10: 28,468,807 (GRCm39) |
I1409T |
possibly damaging |
Het |
| Pum1 |
T |
A |
4: 130,493,323 (GRCm39) |
I842N |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Sgca |
T |
A |
11: 94,862,131 (GRCm39) |
N174Y |
probably damaging |
Het |
| Slc7a14 |
A |
T |
3: 31,311,912 (GRCm39) |
L36Q |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stard13 |
G |
A |
5: 150,965,651 (GRCm39) |
Q935* |
probably null |
Het |
| Suds3 |
C |
T |
5: 117,232,970 (GRCm39) |
|
probably null |
Het |
| Sv2b |
A |
T |
7: 74,773,911 (GRCm39) |
L520Q |
possibly damaging |
Het |
| Tmem26 |
T |
C |
10: 68,587,125 (GRCm39) |
F191S |
probably damaging |
Het |
|
| Other mutations in Best3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Best3
|
APN |
10 |
116,824,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00158:Best3
|
APN |
10 |
116,840,446 (GRCm39) |
splice site |
probably benign |
|
|
IGL02493:Best3
|
APN |
10 |
116,860,506 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03178:Best3
|
APN |
10 |
116,824,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03355:Best3
|
APN |
10 |
116,829,010 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0531:Best3
|
UTSW |
10 |
116,840,280 (GRCm39) |
splice site |
probably benign |
|
|
R0578:Best3
|
UTSW |
10 |
116,844,904 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1671:Best3
|
UTSW |
10 |
116,860,573 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1769:Best3
|
UTSW |
10 |
116,859,883 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1860:Best3
|
UTSW |
10 |
116,829,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1935:Best3
|
UTSW |
10 |
116,860,291 (GRCm39) |
missense |
probably benign |
|
|
R2103:Best3
|
UTSW |
10 |
116,838,499 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3942:Best3
|
UTSW |
10 |
116,824,579 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4260:Best3
|
UTSW |
10 |
116,860,131 (GRCm39) |
missense |
probably benign |
|
|
R4332:Best3
|
UTSW |
10 |
116,838,429 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4741:Best3
|
UTSW |
10 |
116,859,901 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4760:Best3
|
UTSW |
10 |
116,860,699 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4896:Best3
|
UTSW |
10 |
116,860,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4912:Best3
|
UTSW |
10 |
116,844,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Best3
|
UTSW |
10 |
116,824,647 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5087:Best3
|
UTSW |
10 |
116,844,907 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5213:Best3
|
UTSW |
10 |
116,860,377 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5457:Best3
|
UTSW |
10 |
116,840,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5928:Best3
|
UTSW |
10 |
116,843,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5982:Best3
|
UTSW |
10 |
116,840,322 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6335:Best3
|
UTSW |
10 |
116,838,556 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7068:Best3
|
UTSW |
10 |
116,824,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Best3
|
UTSW |
10 |
116,840,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8139:Best3
|
UTSW |
10 |
116,840,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8306:Best3
|
UTSW |
10 |
116,838,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8715:Best3
|
UTSW |
10 |
116,828,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8847:Best3
|
UTSW |
10 |
116,824,572 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9104:Best3
|
UTSW |
10 |
116,860,680 (GRCm39) |
missense |
probably benign |
|
|
R9506:Best3
|
UTSW |
10 |
116,839,826 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9579:Best3
|
UTSW |
10 |
116,829,100 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9635:Best3
|
UTSW |
10 |
116,838,450 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF014:Best3
|
UTSW |
10 |
116,840,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Best3
|
UTSW |
10 |
116,860,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Best3
|
UTSW |
10 |
116,860,527 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Posted On |
2015-04-16 |
Incidental Mutation