Incidental Mutation 'R4332:Best3'
| ID |
323638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Best3
|
| Ensembl Gene |
ENSMUSG00000020169 |
| Gene Name |
bestrophin 3 |
| Synonyms |
mBest4, Vmd2l3 |
| MMRRC Submission |
041099-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.152)
|
| Stock # |
R4332 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
116822219-116860945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 116838429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 162
(F162L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020378]
|
| AlphaFold |
Q6H1V1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020378
AA Change: F162L
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020378
Gene: ENSMUSG00000020169
AA Change: F162L
| 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 |
|
| Meta Mutation Damage Score |
0.2599 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (56/57) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
T |
C |
8: 106,436,356 (GRCm39) |
I175T |
possibly damaging |
Het |
| A2m |
A |
G |
6: 121,634,406 (GRCm39) |
D646G |
probably benign |
Het |
| Acat2 |
T |
C |
17: 13,181,782 (GRCm39) |
|
probably benign |
Het |
| Armc10 |
T |
A |
5: 21,866,579 (GRCm39) |
V281E |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,046,446 (GRCm39) |
M360V |
probably benign |
Het |
| Chd7 |
G |
T |
4: 8,854,143 (GRCm39) |
R1905L |
probably damaging |
Het |
| Dhx36 |
C |
T |
3: 62,392,412 (GRCm39) |
R538Q |
probably damaging |
Het |
| Efna2 |
G |
A |
10: 80,024,315 (GRCm39) |
R161Q |
probably damaging |
Het |
| Farsb |
T |
C |
1: 78,445,903 (GRCm39) |
T159A |
possibly damaging |
Het |
| Fry |
C |
T |
5: 150,305,128 (GRCm39) |
A611V |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,808,201 (GRCm39) |
T1507A |
probably benign |
Het |
| Gm5592 |
G |
T |
7: 40,865,542 (GRCm39) |
|
probably benign |
Het |
| Gm7367 |
T |
C |
7: 59,805,364 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9312 |
A |
T |
12: 24,302,095 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfg |
A |
T |
7: 28,136,997 (GRCm39) |
M1L |
probably benign |
Het |
| Gpr149 |
C |
A |
3: 62,511,794 (GRCm39) |
L68F |
possibly damaging |
Het |
| Hmga2 |
T |
C |
10: 120,200,117 (GRCm39) |
|
probably benign |
Het |
| Il12a |
C |
A |
3: 68,602,594 (GRCm39) |
|
probably benign |
Het |
| Itprid1 |
G |
A |
6: 55,945,220 (GRCm39) |
G647D |
possibly damaging |
Het |
| Itsn2 |
T |
A |
12: 4,762,611 (GRCm39) |
M1597K |
possibly damaging |
Het |
| Kyat3 |
A |
G |
3: 142,431,187 (GRCm39) |
I154M |
probably damaging |
Het |
| Npas3 |
A |
C |
12: 54,108,852 (GRCm39) |
I419L |
probably damaging |
Het |
| Ogfrl1 |
T |
A |
1: 23,414,910 (GRCm39) |
Y199F |
probably damaging |
Het |
| Or14a259 |
A |
C |
7: 86,013,080 (GRCm39) |
V155G |
probably benign |
Het |
| Or5aq7 |
A |
G |
2: 86,938,089 (GRCm39) |
V214A |
possibly damaging |
Het |
| Or6b6 |
T |
C |
7: 106,571,354 (GRCm39) |
M66V |
probably benign |
Het |
| P2rx3 |
G |
A |
2: 84,855,205 (GRCm39) |
P84S |
probably benign |
Het |
| P3h3 |
A |
G |
6: 124,819,099 (GRCm39) |
V657A |
probably damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,908,393 (GRCm39) |
M553V |
probably benign |
Het |
| Pcdhb1 |
T |
C |
18: 37,398,583 (GRCm39) |
F178S |
probably damaging |
Het |
| Plppr4 |
A |
T |
3: 117,116,474 (GRCm39) |
M403K |
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,102,288 (GRCm39) |
T1956M |
probably benign |
Het |
| Rbm12b1 |
G |
T |
4: 12,145,655 (GRCm39) |
K542N |
probably benign |
Het |
| Rdh8 |
C |
T |
9: 20,733,925 (GRCm39) |
A37V |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,327,502 (GRCm39) |
T1830A |
probably damaging |
Het |
| Sardh |
G |
T |
2: 27,105,126 (GRCm39) |
Q666K |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Septin4 |
T |
G |
11: 87,458,730 (GRCm39) |
L368R |
possibly damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,297,294 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
G |
A |
6: 91,700,452 (GRCm39) |
G60D |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,569,996 (GRCm39) |
D134G |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,831,222 (GRCm39) |
T378A |
probably benign |
Het |
| Tmprss7 |
T |
G |
16: 45,506,690 (GRCm39) |
K124T |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,571,425 (GRCm39) |
L1128P |
probably damaging |
Het |
| Usp32 |
C |
T |
11: 84,994,804 (GRCm39) |
C36Y |
possibly damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,786,922 (GRCm39) |
T62S |
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,578,498 (GRCm39) |
Y136* |
probably null |
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 |
|
R3942:Best3
|
UTSW |
10 |
116,824,579 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4260:Best3
|
UTSW |
10 |
116,860,131 (GRCm39) |
missense |
probably benign |
|
|
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'- CACCTTGTATGTGCACGTGC -3'
(R):5'- TGGTCTGTCCTGTTACAGCC -3'
Sequencing Primer
(F):5'- GTGCACACACATACACTTGGG -3'
(R):5'- TGTCCTGTTACAGCCGGCAC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation