Incidental Mutation 'IGL03355:Best3'
| ID |
419909 |
| 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: 0.185)
|
| Stock # |
IGL03355
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
116986314-117025040 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116993105 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 97
(F97L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020378]
|
| AlphaFold |
Q6H1V1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020378
AA Change: F97L
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000020378
Gene: ENSMUSG00000020169
AA Change: F97L
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610002M06Rik |
C |
A |
X: 107,788,283 (GRCm38) |
V180F |
possibly damaging |
Het |
| Actrt1 |
T |
C |
X: 46,329,747 (GRCm38) |
V213A |
probably benign |
Het |
| Adam28 |
A |
T |
14: 68,634,803 (GRCm38) |
|
probably benign |
Het |
| Apeh |
T |
C |
9: 108,086,445 (GRCm38) |
H557R |
probably benign |
Het |
| Atmin |
T |
A |
8: 116,957,425 (GRCm38) |
L608* |
probably null |
Het |
| B3gnt5 |
A |
T |
16: 19,769,153 (GRCm38) |
M41L |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,978,160 (GRCm38) |
V2486M |
unknown |
Het |
| Crym |
T |
C |
7: 120,199,313 (GRCm38) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,478,057 (GRCm38) |
|
probably null |
Het |
| Dnah7b |
A |
G |
1: 46,119,304 (GRCm38) |
D349G |
probably benign |
Het |
| Eea1 |
T |
C |
10: 96,042,212 (GRCm38) |
|
probably benign |
Het |
| Emc1 |
C |
T |
4: 139,371,593 (GRCm38) |
|
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,512,145 (GRCm38) |
|
probably benign |
Het |
| Ereg |
A |
G |
5: 91,088,581 (GRCm38) |
|
probably benign |
Het |
| Faah |
G |
A |
4: 116,002,528 (GRCm38) |
P369S |
probably benign |
Het |
| Fam135a |
A |
T |
1: 24,029,168 (GRCm38) |
N703K |
possibly damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,279,140 (GRCm38) |
S622P |
probably damaging |
Het |
| Gm10030 |
A |
G |
9: 111,006,773 (GRCm38) |
|
noncoding transcript |
Het |
| Gpr179 |
A |
T |
11: 97,337,608 (GRCm38) |
S1240R |
possibly damaging |
Het |
| Hax1 |
A |
T |
3: 89,997,447 (GRCm38) |
H146Q |
possibly damaging |
Het |
| Ift46 |
A |
G |
9: 44,782,148 (GRCm38) |
N31D |
possibly damaging |
Het |
| Kel |
C |
T |
6: 41,698,887 (GRCm38) |
|
probably null |
Het |
| Khk |
A |
T |
5: 30,929,560 (GRCm38) |
I108L |
probably benign |
Het |
| Morc4 |
T |
C |
X: 139,849,682 (GRCm38) |
N375S |
probably null |
Het |
| Mta3 |
A |
T |
17: 83,800,045 (GRCm38) |
|
probably benign |
Het |
| Nacc2 |
T |
C |
2: 26,062,237 (GRCm38) |
K369R |
probably damaging |
Het |
| Nkap |
T |
C |
X: 37,139,670 (GRCm38) |
|
probably benign |
Het |
| Obscn |
A |
T |
11: 59,037,792 (GRCm38) |
L6016Q |
probably damaging |
Het |
| Olfr25 |
A |
T |
9: 38,329,656 (GRCm38) |
Q20L |
probably benign |
Het |
| Olfr589 |
T |
C |
7: 103,155,201 (GRCm38) |
E182G |
probably damaging |
Het |
| Pde4c |
T |
A |
8: 70,746,595 (GRCm38) |
L182Q |
probably damaging |
Het |
| Pla2g10 |
G |
T |
16: 13,730,420 (GRCm38) |
|
probably null |
Het |
| Rap1gap2 |
T |
A |
11: 74,412,344 (GRCm38) |
I426F |
probably damaging |
Het |
| Rbm33 |
C |
A |
5: 28,391,061 (GRCm38) |
|
probably benign |
Het |
| Rnf139 |
C |
A |
15: 58,900,032 (GRCm38) |
D635E |
probably benign |
Het |
| Sar1a |
T |
C |
10: 61,684,939 (GRCm38) |
V15A |
possibly damaging |
Het |
| Scarb1 |
A |
C |
5: 125,289,702 (GRCm38) |
S56A |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,460,568 (GRCm38) |
K1945E |
possibly damaging |
Het |
| Sec62 |
G |
A |
3: 30,809,922 (GRCm38) |
G118R |
unknown |
Het |
| Sgce |
T |
A |
6: 4,689,738 (GRCm38) |
Q356L |
probably damaging |
Het |
| Slco4c1 |
A |
T |
1: 96,842,507 (GRCm38) |
Y277* |
probably null |
Het |
| Smarca4 |
C |
T |
9: 21,635,836 (GRCm38) |
T219I |
probably benign |
Het |
| Sphkap |
A |
T |
1: 83,280,503 (GRCm38) |
I173N |
probably damaging |
Het |
| Spred3 |
C |
T |
7: 29,161,572 (GRCm38) |
C394Y |
unknown |
Het |
| Stra6l |
A |
G |
4: 45,873,689 (GRCm38) |
D283G |
probably benign |
Het |
| Tipin |
A |
T |
9: 64,288,124 (GRCm38) |
Q4L |
probably benign |
Het |
| Tmprss11c |
T |
A |
5: 86,231,871 (GRCm38) |
I380F |
probably benign |
Het |
| Tymp |
T |
C |
15: 89,375,016 (GRCm38) |
D195G |
possibly damaging |
Het |
| Ugt2b34 |
T |
A |
5: 86,906,685 (GRCm38) |
Y79F |
probably benign |
Het |
| Vmn2r16 |
T |
A |
5: 109,363,714 (GRCm38) |
S596T |
possibly damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,243,889 (GRCm38) |
S1024P |
possibly damaging |
Het |
|
| Other mutations in Best3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Best3
|
APN |
10 |
116,988,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00158:Best3
|
APN |
10 |
117,004,541 (GRCm38) |
splice site |
probably benign |
|
|
IGL02493:Best3
|
APN |
10 |
117,024,601 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02713:Best3
|
APN |
10 |
117,024,529 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03178:Best3
|
APN |
10 |
116,988,779 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0531:Best3
|
UTSW |
10 |
117,004,375 (GRCm38) |
splice site |
probably benign |
|
|
R0578:Best3
|
UTSW |
10 |
117,008,999 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1671:Best3
|
UTSW |
10 |
117,024,668 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R1769:Best3
|
UTSW |
10 |
117,023,978 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1860:Best3
|
UTSW |
10 |
116,993,273 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1935:Best3
|
UTSW |
10 |
117,024,386 (GRCm38) |
missense |
probably benign |
|
|
R2103:Best3
|
UTSW |
10 |
117,002,594 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3942:Best3
|
UTSW |
10 |
116,988,674 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R4260:Best3
|
UTSW |
10 |
117,024,226 (GRCm38) |
missense |
probably benign |
|
|
R4332:Best3
|
UTSW |
10 |
117,002,524 (GRCm38) |
missense |
probably benign |
0.37 |
|
R4741:Best3
|
UTSW |
10 |
117,023,996 (GRCm38) |
missense |
probably benign |
0.06 |
|
R4760:Best3
|
UTSW |
10 |
117,024,794 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4896:Best3
|
UTSW |
10 |
117,024,555 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4912:Best3
|
UTSW |
10 |
117,008,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5023:Best3
|
UTSW |
10 |
116,988,742 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5087:Best3
|
UTSW |
10 |
117,009,002 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5213:Best3
|
UTSW |
10 |
117,024,472 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5457:Best3
|
UTSW |
10 |
117,004,511 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5928:Best3
|
UTSW |
10 |
117,007,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5982:Best3
|
UTSW |
10 |
117,004,417 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6335:Best3
|
UTSW |
10 |
117,002,651 (GRCm38) |
missense |
probably benign |
0.32 |
|
R7068:Best3
|
UTSW |
10 |
116,988,638 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7469:Best3
|
UTSW |
10 |
117,004,385 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8139:Best3
|
UTSW |
10 |
117,004,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8306:Best3
|
UTSW |
10 |
117,002,610 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8715:Best3
|
UTSW |
10 |
116,993,066 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8847:Best3
|
UTSW |
10 |
116,988,667 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R9104:Best3
|
UTSW |
10 |
117,024,775 (GRCm38) |
missense |
probably benign |
|
|
R9506:Best3
|
UTSW |
10 |
117,003,921 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9579:Best3
|
UTSW |
10 |
116,993,195 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9635:Best3
|
UTSW |
10 |
117,002,545 (GRCm38) |
missense |
probably damaging |
0.99 |
|
RF014:Best3
|
UTSW |
10 |
117,004,505 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Best3
|
UTSW |
10 |
117,024,170 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1176:Best3
|
UTSW |
10 |
117,024,622 (GRCm38) |
missense |
probably benign |
0.24 |
|
| Posted On |
2016-08-02 |
Incidental Mutation