Incidental Mutation 'R2866:Best1'
| ID |
253295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Best1
|
| Ensembl Gene |
ENSMUSG00000037418 |
| Gene Name |
bestrophin 1 |
| Synonyms |
best macular dystrophy, mBest1, Vmd2 |
| MMRRC Submission |
040455-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2866 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
9962538-9978997 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9963585 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 532
(E532G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113053
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025563]
[ENSMUST00000117346]
|
| AlphaFold |
O88870 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025563
|
| SMART Domains |
Protein: ENSMUSP00000025563
Gene: ENSMUSG00000024661
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ferritin
|
18 |
159 |
1.5e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117346
AA Change: E532G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113053
Gene: ENSMUSG00000037418
AA Change: E532G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bestrophin
|
8 |
316 |
8.5e-111 |
PFAM |
|
low complexity region
|
476 |
488 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144273
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atmin |
T |
A |
8: 117,683,112 (GRCm39) |
D257E |
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,789,637 (GRCm39) |
H804R |
probably benign |
Het |
| Clec2g |
T |
C |
6: 128,925,719 (GRCm39) |
S43P |
probably benign |
Het |
| Col8a2 |
A |
G |
4: 126,204,992 (GRCm39) |
|
probably benign |
Het |
| Cpz |
T |
C |
5: 35,659,705 (GRCm39) |
K647E |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,308,185 (GRCm39) |
|
probably null |
Het |
| Ctss |
A |
G |
3: 95,452,717 (GRCm39) |
K166R |
probably benign |
Het |
| Cyp2c23 |
T |
C |
19: 43,993,885 (GRCm39) |
R494G |
probably damaging |
Het |
| Cyp2c68 |
A |
G |
19: 39,677,589 (GRCm39) |
I467T |
probably damaging |
Het |
| Dcaf11 |
A |
T |
14: 55,803,202 (GRCm39) |
T299S |
possibly damaging |
Het |
| Dennd1b |
A |
G |
1: 139,098,019 (GRCm39) |
S762G |
possibly damaging |
Het |
| Epb42 |
C |
T |
2: 120,856,402 (GRCm39) |
A381T |
possibly damaging |
Het |
| Fhad1 |
A |
G |
4: 141,648,099 (GRCm39) |
Y256H |
probably benign |
Het |
| Gfra1 |
C |
T |
19: 58,227,739 (GRCm39) |
A395T |
possibly damaging |
Het |
| Gm10323 |
C |
A |
13: 67,002,574 (GRCm39) |
C55F |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,749,551 (GRCm39) |
S1092G |
probably damaging |
Het |
| Grid1 |
A |
T |
14: 35,284,516 (GRCm39) |
D753V |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
| Lat2 |
T |
A |
5: 134,634,798 (GRCm39) |
D114V |
probably damaging |
Het |
| Lcat |
C |
T |
8: 106,666,511 (GRCm39) |
C337Y |
probably damaging |
Het |
| Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
| Mroh7 |
C |
T |
4: 106,548,287 (GRCm39) |
G1064R |
probably damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
| Or10h5 |
T |
A |
17: 33,435,252 (GRCm39) |
H22L |
probably benign |
Het |
| Or51ah3 |
A |
T |
7: 103,210,064 (GRCm39) |
I127F |
probably damaging |
Het |
| Or5p5 |
T |
A |
7: 107,414,126 (GRCm39) |
C112S |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,773 (GRCm39) |
F61Y |
possibly damaging |
Het |
| Polr1has |
A |
T |
17: 37,276,052 (GRCm39) |
R211S |
possibly damaging |
Het |
| Psg27 |
T |
A |
7: 18,295,818 (GRCm39) |
D209V |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Pzp |
A |
G |
6: 128,502,227 (GRCm39) |
S41P |
possibly damaging |
Het |
| Rab23 |
A |
T |
1: 33,777,376 (GRCm39) |
K163N |
possibly damaging |
Het |
| Rilpl2 |
T |
C |
5: 124,615,898 (GRCm39) |
D84G |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 41,881,077 (GRCm39) |
I2148T |
probably benign |
Het |
| Tead1 |
A |
G |
7: 112,358,694 (GRCm39) |
E2G |
probably damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,259 (GRCm39) |
N59D |
possibly damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,832,121 (GRCm39) |
D345V |
possibly damaging |
Het |
| Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
| Ucp2 |
T |
C |
7: 100,146,459 (GRCm39) |
V95A |
probably benign |
Het |
| Usp17lb |
T |
C |
7: 104,489,955 (GRCm39) |
D323G |
probably damaging |
Het |
| Zfp677 |
A |
T |
17: 21,617,518 (GRCm39) |
K192* |
probably null |
Het |
| Zmym2 |
T |
A |
14: 57,165,705 (GRCm39) |
I676K |
probably damaging |
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 |
|
|
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 |
|
|
R6893:Best1
|
UTSW |
19 |
9,974,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AAGGCCTCTATCACAGGGTTC -3'
(R):5'- CCCATGACTTCTGAGACCAAG -3'
Sequencing Primer
(F):5'- CTATCACAGGGTTCTTTCCTAGGTAG -3'
(R):5'- AAACACTTGTGAGCTGCCTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation