Incidental Mutation 'R9635:Best3'
| ID |
725762 |
| 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 # |
R9635 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
116822219-116860945 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116838450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 169
(K169N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020378]
|
| AlphaFold |
Q6H1V1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020378
AA Change: K169N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020378
Gene: ENSMUSG00000020169
AA Change: K169N
| 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: 99.7%
- 20x: 99.1%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
A |
T |
5: 4,100,545 (GRCm39) |
T2736S |
probably benign |
Het |
| AW209491 |
T |
C |
13: 14,811,957 (GRCm39) |
V270A |
probably benign |
Het |
| Cabyr |
A |
G |
18: 12,883,816 (GRCm39) |
K101R |
probably damaging |
Het |
| Cfhr4 |
C |
T |
1: 139,701,764 (GRCm39) |
V117I |
probably damaging |
Het |
| Chd5 |
A |
T |
4: 152,461,079 (GRCm39) |
D1223V |
possibly damaging |
Het |
| Commd2 |
T |
C |
3: 57,559,064 (GRCm39) |
D4G |
probably benign |
Het |
| Cox5b-ps |
T |
C |
13: 21,685,294 (GRCm39) |
T99A |
probably benign |
Het |
| Cyp3a41a |
A |
T |
5: 145,652,320 (GRCm39) |
F60I |
possibly damaging |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dnmbp |
C |
A |
19: 43,855,974 (GRCm39) |
A261S |
probably benign |
Het |
| Fcgbp |
A |
C |
7: 27,800,832 (GRCm39) |
T1293P |
probably benign |
Het |
| Gal3st2b |
A |
C |
1: 93,868,777 (GRCm39) |
N336T |
probably benign |
Het |
| Gm10309 |
T |
C |
17: 86,806,494 (GRCm39) |
T7A |
unknown |
Het |
| Gm10322 |
A |
T |
10: 59,451,931 (GRCm39) |
H16L |
possibly damaging |
Het |
| Gpr17 |
A |
G |
18: 32,080,199 (GRCm39) |
L288P |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,235,899 (GRCm39) |
I142M |
|
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,696,527 (GRCm39) |
D2438E |
probably benign |
Het |
| Map3k20 |
G |
A |
2: 72,232,403 (GRCm39) |
S353N |
possibly damaging |
Het |
| Moxd2 |
T |
A |
6: 40,863,000 (GRCm39) |
D102V |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,972,686 (GRCm39) |
E2120G |
possibly damaging |
Het |
| Or4f4-ps1 |
T |
A |
2: 111,330,267 (GRCm39) |
C223* |
probably null |
Het |
| Or5p79 |
A |
G |
7: 108,221,654 (GRCm39) |
I212V |
probably benign |
Het |
| Or6c5c |
T |
C |
10: 129,299,463 (GRCm39) |
V306A |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,510 (GRCm39) |
T297S |
probably benign |
Het |
| Pdcd2l |
A |
C |
7: 33,892,356 (GRCm39) |
L171R |
possibly damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,138,113 (GRCm39) |
S154P |
probably benign |
Het |
| Prc1 |
T |
G |
7: 79,962,047 (GRCm39) |
M515R |
probably benign |
Het |
| Rbm34 |
A |
G |
8: 127,696,872 (GRCm39) |
S77P |
probably damaging |
Het |
| Samsn1 |
T |
G |
16: 75,673,457 (GRCm39) |
T140P |
probably damaging |
Het |
| Slc34a1 |
G |
A |
13: 55,556,940 (GRCm39) |
V379M |
probably damaging |
Het |
| Stab2 |
T |
A |
10: 86,686,651 (GRCm39) |
R2298* |
probably null |
Het |
| Trim10 |
G |
A |
17: 37,187,890 (GRCm39) |
V369M |
probably damaging |
Het |
| Trpv6 |
T |
C |
6: 41,599,901 (GRCm39) |
N585S |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,586,617 (GRCm39) |
D21765N |
possibly damaging |
Het |
| Ubxn6 |
A |
G |
17: 56,376,189 (GRCm39) |
L349P |
probably damaging |
Het |
| Vdac3 |
A |
T |
8: 23,077,575 (GRCm39) |
S37R |
probably damaging |
Het |
| Vmn1r124 |
G |
A |
7: 20,993,720 (GRCm39) |
L275F |
probably benign |
Het |
| Wdr17 |
A |
T |
8: 55,101,375 (GRCm39) |
I964N |
probably damaging |
Het |
| Zdhhc22 |
A |
G |
12: 87,030,396 (GRCm39) |
F184S |
possibly damaging |
Het |
| Zfp512 |
A |
G |
5: 31,623,669 (GRCm39) |
H124R |
probably benign |
Het |
| Zswim4 |
T |
C |
8: 84,939,354 (GRCm39) |
T843A |
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 |
|
R9579:Best3
|
UTSW |
10 |
116,829,100 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
2022-09-12 |
Incidental Mutation