Incidental Mutation 'R3942:Best3'
ID |
312905 |
Institutional Source |
Beutler Lab
|
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 # |
R3942 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
116822219-116860945 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 116824579 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 15
(F15Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020378]
|
AlphaFold |
Q6H1V1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020378
AA Change: F15Y
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000020378 Gene: ENSMUSG00000020169 AA Change: F15Y
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
C |
13: 81,330,908 (GRCm39) |
N6049S |
probably damaging |
Het |
Aph1a |
C |
T |
3: 95,801,573 (GRCm39) |
R31W |
probably damaging |
Het |
Atp10b |
T |
C |
11: 43,063,581 (GRCm39) |
V172A |
probably damaging |
Het |
Atp13a2 |
T |
C |
4: 140,733,733 (GRCm39) |
S1041P |
probably damaging |
Het |
Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
Crb1 |
A |
C |
1: 139,265,211 (GRCm39) |
L69R |
possibly damaging |
Het |
Crcp |
T |
C |
5: 130,063,791 (GRCm39) |
|
probably null |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Hps3 |
T |
C |
3: 20,051,103 (GRCm39) |
Y859C |
probably damaging |
Het |
Irx5 |
C |
A |
8: 93,086,314 (GRCm39) |
N132K |
probably damaging |
Het |
Itgb2 |
A |
G |
10: 77,393,867 (GRCm39) |
T436A |
probably benign |
Het |
Kit |
A |
G |
5: 75,769,978 (GRCm39) |
D130G |
probably benign |
Het |
Krt12 |
A |
G |
11: 99,312,922 (GRCm39) |
S41P |
unknown |
Het |
Lypd6b |
G |
T |
2: 49,833,552 (GRCm39) |
S64I |
probably damaging |
Het |
Mpc1 |
T |
A |
17: 8,507,420 (GRCm39) |
|
probably null |
Het |
Or4c109 |
T |
A |
2: 88,818,455 (GRCm39) |
L30F |
probably benign |
Het |
Or5b95 |
A |
T |
19: 12,657,768 (GRCm39) |
M99L |
probably benign |
Het |
Pard3b |
T |
A |
1: 62,198,611 (GRCm39) |
I233N |
probably damaging |
Het |
Pcdh1 |
A |
G |
18: 38,332,511 (GRCm39) |
V164A |
probably benign |
Het |
Pclo |
A |
G |
5: 14,729,932 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,455,422 (GRCm39) |
|
probably null |
Het |
Slco1a7 |
A |
G |
6: 141,673,440 (GRCm39) |
I366T |
probably damaging |
Het |
Spata31d1d |
T |
C |
13: 59,875,276 (GRCm39) |
Q753R |
probably benign |
Het |
Stxbp6 |
A |
G |
12: 44,949,641 (GRCm39) |
|
probably null |
Het |
Trav6-5 |
T |
C |
14: 53,728,838 (GRCm39) |
S32P |
probably benign |
Het |
Zp3r |
A |
C |
1: 130,504,791 (GRCm39) |
D470E |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTATGAGAGGAGTGCGTGATGC -3'
(R):5'- GTTACATAATGCAGAGGCTAGCG -3'
Sequencing Primer
(F):5'- CATGGAGGGTGGGTCAGC -3'
(R):5'- CAACCAAGGGGATCCAGTTTTTG -3'
|
Posted On |
2015-04-30 |