Incidental Mutation 'IGL00155:Best3'
| ID |
1217 |
| 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 # |
IGL00155
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
116822219-116860945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116824632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 33
(Y33H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020378]
|
| AlphaFold |
Q6H1V1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020378
AA Change: Y33H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020378
Gene: ENSMUSG00000020169
AA Change: Y33H
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,590,235 (GRCm39) |
F498S |
probably damaging |
Het |
| Arhgap11a |
A |
G |
2: 113,664,601 (GRCm39) |
S561P |
probably benign |
Het |
| Cd209b |
T |
A |
8: 3,969,945 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,405,808 (GRCm39) |
S1575P |
probably benign |
Het |
| Crabp2 |
A |
G |
3: 87,859,506 (GRCm39) |
Y52C |
probably damaging |
Het |
| Crybg1 |
T |
C |
10: 43,868,505 (GRCm39) |
D1017G |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 76,957,744 (GRCm39) |
W137R |
probably damaging |
Het |
| Cxcl9 |
T |
A |
5: 92,471,728 (GRCm39) |
H104L |
possibly damaging |
Het |
| Ddr2 |
A |
G |
1: 169,811,996 (GRCm39) |
I742T |
possibly damaging |
Het |
| Frem1 |
A |
G |
4: 82,877,626 (GRCm39) |
V223A |
possibly damaging |
Het |
| Fzd10 |
T |
A |
5: 128,678,592 (GRCm39) |
I104N |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,761,962 (GRCm39) |
S473P |
probably damaging |
Het |
| Gtf2i |
T |
C |
5: 134,271,602 (GRCm39) |
Y873C |
probably damaging |
Het |
| Igsf6 |
T |
A |
7: 120,669,876 (GRCm39) |
K89* |
probably null |
Het |
| Ints3 |
A |
G |
3: 90,313,636 (GRCm39) |
F331L |
probably damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,140,354 (GRCm39) |
H1080L |
possibly damaging |
Het |
| Mettl15 |
A |
T |
2: 108,923,521 (GRCm39) |
Y300* |
probably null |
Het |
| Mms19 |
A |
G |
19: 41,936,672 (GRCm39) |
F654L |
probably benign |
Het |
| Myc |
A |
G |
15: 61,861,669 (GRCm39) |
H425R |
probably benign |
Het |
| Ntn1 |
G |
T |
11: 68,117,445 (GRCm39) |
|
probably benign |
Het |
| Ormdl2 |
C |
A |
10: 128,655,944 (GRCm39) |
G69W |
probably damaging |
Het |
| Pdpr |
T |
C |
8: 111,828,704 (GRCm39) |
V69A |
possibly damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,587,908 (GRCm39) |
I254T |
probably damaging |
Het |
| Sema6d |
A |
G |
2: 124,501,785 (GRCm39) |
R543G |
possibly damaging |
Het |
| Slc18a1 |
C |
T |
8: 69,503,998 (GRCm39) |
A314T |
probably damaging |
Het |
| Slc22a26 |
A |
G |
19: 7,760,201 (GRCm39) |
L514P |
probably damaging |
Het |
| Slc22a28 |
A |
C |
19: 8,107,567 (GRCm39) |
S167A |
possibly damaging |
Het |
| Speer1m |
A |
G |
5: 11,971,377 (GRCm39) |
S110G |
possibly damaging |
Het |
| Tchh |
A |
G |
3: 93,352,606 (GRCm39) |
E682G |
unknown |
Het |
| Thbs2 |
A |
T |
17: 14,889,097 (GRCm39) |
M1134K |
probably damaging |
Het |
| Tmem26 |
A |
G |
10: 68,611,184 (GRCm39) |
S218G |
probably damaging |
Het |
| Tmprss11c |
A |
T |
5: 86,387,254 (GRCm39) |
S208R |
probably benign |
Het |
| Tnfrsf8 |
T |
C |
4: 145,019,161 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
C |
1: 188,596,875 (GRCm39) |
S3872P |
probably benign |
Het |
| Vmn1r69 |
T |
C |
7: 10,313,879 (GRCm39) |
N205S |
probably benign |
Het |
| Vmn2r54 |
T |
A |
7: 12,365,840 (GRCm39) |
|
probably benign |
Het |
| Wwtr1 |
A |
T |
3: 57,370,942 (GRCm39) |
M328K |
possibly damaging |
Het |
| Zfp64 |
G |
A |
2: 168,768,601 (GRCm39) |
S337L |
probably benign |
Het |
|
| Other mutations in Best3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02713:Best3
|
APN |
10 |
116,860,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2011-07-12 |
Incidental Mutation