Incidental Mutation 'R6893:Best1'
| ID |
538183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Best1
|
| Ensembl Gene |
ENSMUSG00000037418 |
| Gene Name |
bestrophin 1 |
| Synonyms |
best macular dystrophy, mBest1, Vmd2 |
| MMRRC Submission |
044987-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6893 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
9962538-9978997 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9974446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 33
(Y33H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117346]
[ENSMUST00000121418]
|
| AlphaFold |
O88870 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117346
AA Change: Y33H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113053
Gene: ENSMUSG00000037418
AA Change: Y33H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bestrophin
|
8 |
316 |
8.5e-111 |
PFAM |
|
low complexity region
|
476 |
488 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121418
|
| SMART Domains |
Protein: ENSMUSP00000113828
Gene: ENSMUSG00000024663
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec2p
|
20 |
129 |
4.3e-30 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.7%
- 20x: 95.2%
|
| Validation Efficiency |
100% (49/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]
PHENOTYPE: Homozygous null mutations of this gene generally result in abnormal retinal pigment epithelium morphology and/or altered eye electrophysiology. Homozygotes for a null allele show male subfertility associated with abnormal sperm morphology and reduced motility in the absence of retinal pathology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
T |
A |
8: 25,368,770 (GRCm39) |
D538V |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,011,709 (GRCm39) |
I804T |
probably benign |
Het |
| Amy1 |
T |
C |
3: 113,357,281 (GRCm39) |
E186G |
probably benign |
Het |
| Cacna1s |
C |
A |
1: 136,005,431 (GRCm39) |
N405K |
probably benign |
Het |
| Casp7 |
T |
C |
19: 56,421,741 (GRCm39) |
Y60H |
probably damaging |
Het |
| Ccdc61 |
T |
C |
7: 18,626,488 (GRCm39) |
N367S |
possibly damaging |
Het |
| Cnksr3 |
A |
T |
10: 7,085,129 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
A |
C |
15: 55,308,044 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
T |
5: 145,323,784 (GRCm39) |
K424* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,786,184 (GRCm39) |
E366G |
probably damaging |
Het |
| Dpep3 |
T |
C |
8: 106,700,474 (GRCm39) |
K411E |
probably benign |
Het |
| Ebf2 |
T |
A |
14: 67,475,008 (GRCm39) |
V81E |
probably benign |
Het |
| Ehbp1 |
G |
T |
11: 21,964,945 (GRCm39) |
T1084K |
probably damaging |
Het |
| Fastkd2 |
C |
T |
1: 63,770,953 (GRCm39) |
A103V |
possibly damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,323,722 (GRCm39) |
K525E |
probably benign |
Het |
| Hdac2 |
A |
G |
10: 36,873,003 (GRCm39) |
E287G |
probably damaging |
Het |
| Ifi207 |
T |
A |
1: 173,555,208 (GRCm39) |
T832S |
possibly damaging |
Het |
| Igf1 |
G |
C |
10: 87,700,722 (GRCm39) |
V49L |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,909,149 (GRCm39) |
D55G |
possibly damaging |
Het |
| Lipo2 |
G |
T |
19: 33,698,407 (GRCm39) |
Y323* |
probably null |
Het |
| Mettl24 |
C |
T |
10: 40,613,794 (GRCm39) |
R178C |
probably damaging |
Het |
| Naa80 |
A |
G |
9: 107,460,225 (GRCm39) |
E40G |
probably damaging |
Het |
| Ndrg4 |
C |
A |
8: 96,433,229 (GRCm39) |
C66* |
probably null |
Het |
| Nemf |
A |
G |
12: 69,399,110 (GRCm39) |
V140A |
probably benign |
Het |
| Nid2 |
T |
A |
14: 19,839,855 (GRCm39) |
F815I |
probably benign |
Het |
| Or4c108 |
A |
G |
2: 88,804,143 (GRCm39) |
F31L |
probably benign |
Het |
| Or5b106 |
A |
C |
19: 13,123,106 (GRCm39) |
S306A |
probably benign |
Het |
| Or8b12c |
A |
C |
9: 37,716,141 (GRCm39) |
*311C |
probably null |
Het |
| Or8b3b |
A |
T |
9: 38,584,355 (GRCm39) |
N141K |
possibly damaging |
Het |
| Or8k30 |
A |
G |
2: 86,339,136 (GRCm39) |
E111G |
probably damaging |
Het |
| Pcdhga3 |
T |
C |
18: 37,809,598 (GRCm39) |
S684P |
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,660,562 (GRCm39) |
C352* |
probably null |
Het |
| Plscr2 |
G |
A |
9: 92,172,757 (GRCm39) |
V139I |
probably benign |
Het |
| Ppa1 |
T |
A |
10: 61,508,182 (GRCm39) |
C270S |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,844,540 (GRCm39) |
M399L |
possibly damaging |
Het |
| Scn3a |
A |
G |
2: 65,356,098 (GRCm39) |
V212A |
possibly damaging |
Het |
| Serpina3b |
A |
G |
12: 104,099,285 (GRCm39) |
K267E |
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,090,063 (GRCm39) |
T938A |
probably damaging |
Het |
| Specc1 |
A |
C |
11: 62,023,279 (GRCm39) |
S115R |
probably benign |
Het |
| Stim2 |
C |
T |
5: 54,210,787 (GRCm39) |
T74I |
probably benign |
Het |
| Sult6b2 |
T |
A |
6: 142,750,025 (GRCm39) |
D31V |
possibly damaging |
Het |
| Tbc1d24 |
A |
T |
17: 24,401,492 (GRCm39) |
W406R |
probably damaging |
Het |
| Tmprss11b |
A |
G |
5: 86,811,245 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
A |
G |
15: 72,797,499 (GRCm39) |
Y575H |
possibly damaging |
Het |
| Trim63 |
C |
T |
4: 134,050,412 (GRCm39) |
T232M |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,598,180 (GRCm39) |
S19578T |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Xpo4 |
T |
A |
14: 57,819,767 (GRCm39) |
E1139D |
probably benign |
Het |
|
| Other mutations in Best1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01563:Best1
|
APN |
19 |
9,964,099 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02129:Best1
|
APN |
19 |
9,970,285 (GRCm39) |
missense |
probably benign |
|
|
IGL02310:Best1
|
APN |
19 |
9,966,516 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02470:Best1
|
APN |
19 |
9,970,340 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02505:Best1
|
APN |
19 |
9,966,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0366:Best1
|
UTSW |
19 |
9,969,417 (GRCm39) |
splice site |
probably null |
|
|
R1476:Best1
|
UTSW |
19 |
9,967,853 (GRCm39) |
nonsense |
probably null |
|
|
R1674:Best1
|
UTSW |
19 |
9,970,590 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2091:Best1
|
UTSW |
19 |
9,969,443 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2516:Best1
|
UTSW |
19 |
9,970,675 (GRCm39) |
nonsense |
probably null |
|
|
R2866:Best1
|
UTSW |
19 |
9,963,585 (GRCm39) |
missense |
probably benign |
|
|
R4693:Best1
|
UTSW |
19 |
9,974,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4851:Best1
|
UTSW |
19 |
9,969,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4895:Best1
|
UTSW |
19 |
9,970,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5633:Best1
|
UTSW |
19 |
9,969,467 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5700:Best1
|
UTSW |
19 |
9,974,563 (GRCm39) |
unclassified |
probably benign |
|
|
R5837:Best1
|
UTSW |
19 |
9,966,483 (GRCm39) |
splice site |
probably null |
|
|
R7021:Best1
|
UTSW |
19 |
9,964,143 (GRCm39) |
missense |
probably benign |
|
|
R7220:Best1
|
UTSW |
19 |
9,969,479 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7267:Best1
|
UTSW |
19 |
9,964,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7284:Best1
|
UTSW |
19 |
9,963,737 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7489:Best1
|
UTSW |
19 |
9,974,410 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7568:Best1
|
UTSW |
19 |
9,966,639 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7798:Best1
|
UTSW |
19 |
9,969,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8192:Best1
|
UTSW |
19 |
9,963,664 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8523:Best1
|
UTSW |
19 |
9,969,027 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9570:Best1
|
UTSW |
19 |
9,970,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Best1
|
UTSW |
19 |
9,964,339 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Best1
|
UTSW |
19 |
9,970,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGGAACATCAGACCCTC -3'
(R):5'- TGCCTTCTGTGTCTCAGGCTAG -3'
Sequencing Primer
(F):5'- TGGAACATCAGACCCTCTCCTG -3'
(R):5'- AGATCAGAACCTAGTCTTTGACTCC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation