Incidental Mutation 'R9579:Best3'
ID |
722468 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Best3
|
Ensembl Gene |
ENSMUSG00000020169 |
Gene Name |
bestrophin 3 |
Synonyms |
mBest4, Vmd2l3 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.152)
|
Stock # |
R9579 (G1)
|
Quality Score |
211.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
116822219-116860945 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116829100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 127
(T127A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020378
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020378]
|
AlphaFold |
Q6H1V1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020378
AA Change: T127A
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000020378 Gene: ENSMUSG00000020169 AA Change: T127A
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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 |
Adam19 |
C |
A |
11: 46,009,262 (GRCm39) |
H229N |
probably benign |
Het |
Ak9 |
C |
A |
10: 41,213,576 (GRCm39) |
H260Q |
|
Het |
Akap3 |
G |
A |
6: 126,850,974 (GRCm39) |
V831I |
probably damaging |
Het |
Arhgap45 |
T |
C |
10: 79,853,843 (GRCm39) |
F119S |
probably benign |
Het |
Ccdc7a |
G |
A |
8: 129,774,134 (GRCm39) |
Q134* |
probably null |
Het |
Ceacam5 |
C |
A |
7: 17,479,561 (GRCm39) |
S226Y |
probably damaging |
Het |
Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
Cul4a |
G |
A |
8: 13,186,147 (GRCm39) |
E450K |
probably damaging |
Het |
Cyb5a |
A |
T |
18: 84,891,273 (GRCm39) |
R89S |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,368,041 (GRCm39) |
L1766P |
probably damaging |
Het |
Gbp4 |
T |
C |
5: 105,270,947 (GRCm39) |
E228G |
probably damaging |
Het |
Ghr |
A |
G |
15: 3,349,612 (GRCm39) |
I522T |
probably benign |
Het |
Gm5225 |
A |
C |
17: 24,242,897 (GRCm39) |
H22P |
possibly damaging |
Het |
Herc2 |
T |
A |
7: 55,758,500 (GRCm39) |
C796S |
probably damaging |
Het |
Hmgxb4 |
G |
T |
8: 75,756,638 (GRCm39) |
A588S |
probably damaging |
Het |
Lats2 |
G |
A |
14: 57,937,191 (GRCm39) |
P433S |
probably damaging |
Het |
Lrfn1 |
C |
T |
7: 28,166,769 (GRCm39) |
T721I |
probably damaging |
Het |
Matcap1 |
A |
T |
8: 106,012,379 (GRCm39) |
S23T |
probably benign |
Het |
Mpzl3 |
G |
A |
9: 44,973,350 (GRCm39) |
V30I |
probably benign |
Het |
Or2r3 |
A |
T |
6: 42,448,574 (GRCm39) |
C179* |
probably null |
Het |
Pcdh15 |
A |
G |
10: 74,457,117 (GRCm39) |
Y1298C |
possibly damaging |
Het |
Plcd4 |
C |
A |
1: 74,596,948 (GRCm39) |
H397N |
probably benign |
Het |
Pnn |
G |
A |
12: 59,117,030 (GRCm39) |
A201T |
possibly damaging |
Het |
Ptprd |
C |
G |
4: 75,872,315 (GRCm39) |
A1134P |
possibly damaging |
Het |
Rabl3 |
T |
C |
16: 37,362,230 (GRCm39) |
V23A |
probably damaging |
Het |
Rnf157 |
T |
C |
11: 116,240,822 (GRCm39) |
N423S |
probably benign |
Het |
Rtn1 |
T |
C |
12: 72,270,289 (GRCm39) |
D601G |
probably damaging |
Het |
Rxfp1 |
A |
G |
3: 79,557,946 (GRCm39) |
Y511H |
probably damaging |
Het |
Sema5b |
T |
C |
16: 35,467,582 (GRCm39) |
M282T |
probably benign |
Het |
Slco5a1 |
G |
T |
1: 12,949,383 (GRCm39) |
S669* |
probably null |
Het |
Sphkap |
C |
G |
1: 83,255,295 (GRCm39) |
G818A |
probably damaging |
Het |
Stk26 |
C |
T |
X: 49,930,618 (GRCm39) |
|
probably benign |
Het |
Syne3 |
T |
C |
12: 104,942,107 (GRCm39) |
S12G |
probably damaging |
Het |
Tmem150a |
C |
A |
6: 72,334,070 (GRCm39) |
Q51K |
probably benign |
Het |
Ttn |
C |
T |
2: 76,550,196 (GRCm39) |
D31662N |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,578,602 (GRCm39) |
G24097D |
probably damaging |
Het |
Tubb4b |
T |
C |
2: 25,114,139 (GRCm39) |
T55A |
probably benign |
Het |
Vcan |
A |
T |
13: 89,837,713 (GRCm39) |
D2610E |
possibly damaging |
Het |
Xkr5 |
T |
C |
8: 18,983,785 (GRCm39) |
T586A |
probably benign |
Het |
Zfp260 |
T |
C |
7: 29,805,108 (GRCm39) |
F336S |
|
Het |
Zic1 |
A |
G |
9: 91,246,790 (GRCm39) |
F94S |
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 |
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 |
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'- TTCTGCTACACGTGTGTCCG -3'
(R):5'- GCCCTTTAAGAATGCTTCTGCC -3'
Sequencing Primer
(F):5'- CTGAGATGTCTGCTGTAAGAAACTG -3'
(R):5'- AAGAATGCTTCTGCCACATTTC -3'
|
Posted On |
2022-08-09 |