Incidental Mutation 'IGL02311:Bin3'
| ID |
287799 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bin3
|
| Ensembl Gene |
ENSMUSG00000022089 |
| Gene Name |
bridging integrator 3 |
| Synonyms |
1700015F07Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.298)
|
| Stock # |
IGL02311
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
70337538-70375413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 70361666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 45
(M45L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022680]
[ENSMUST00000228717]
|
| AlphaFold |
Q9JI08 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022680
AA Change: M45L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022680
Gene: ENSMUSG00000022089
AA Change: M45L
| Domain | Start | End | E-Value | Type |
|---|
|
BAR
|
5 |
225 |
2.05e-55 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226385
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228049
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228717
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and bind small GTPases. BAR domain proteins have been implicated in endocytosis, intracellular transport, and a diverse set of other processes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice develop juvenile cataracts characterized by defects in cytoskeletal filamentous actin organization, show a higher incidence of spontaneous lymphomas during aging, and display a greater sensitivity to lung adenocarcinoma formation in response to radiation or carcinogen treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500035N22Rik |
C |
A |
5: 25,202,705 (GRCm39) |
|
probably benign |
Het |
| Adam21 |
T |
G |
12: 81,607,666 (GRCm39) |
D32A |
probably benign |
Het |
| Asns |
A |
G |
6: 7,676,233 (GRCm39) |
|
probably null |
Het |
| Cfap44 |
A |
T |
16: 44,225,134 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,227,163 (GRCm39) |
T2642A |
probably benign |
Het |
| Dbndd2 |
T |
C |
2: 164,330,622 (GRCm39) |
S92P |
possibly damaging |
Het |
| Dclre1b |
A |
C |
3: 103,715,409 (GRCm39) |
F30V |
probably damaging |
Het |
| Dock6 |
T |
C |
9: 21,755,624 (GRCm39) |
D200G |
probably damaging |
Het |
| Epb41l4b |
C |
A |
4: 57,076,456 (GRCm39) |
R335L |
probably damaging |
Het |
| Fscn1 |
T |
C |
5: 142,957,765 (GRCm39) |
V304A |
probably benign |
Het |
| Gm7008 |
G |
A |
12: 40,273,385 (GRCm39) |
|
probably benign |
Het |
| Gm8237 |
A |
G |
14: 5,864,425 (GRCm38) |
|
probably null |
Het |
| Ifih1 |
T |
C |
2: 62,440,847 (GRCm39) |
T440A |
probably damaging |
Het |
| Mepe |
C |
T |
5: 104,485,571 (GRCm39) |
S237F |
probably damaging |
Het |
| Nr4a2 |
T |
C |
2: 57,001,743 (GRCm39) |
I174V |
probably benign |
Het |
| Or2ag2 |
A |
G |
7: 106,485,101 (GRCm39) |
Y308H |
probably benign |
Het |
| Or8c11 |
C |
T |
9: 38,289,194 (GRCm39) |
Q6* |
probably null |
Het |
| Orc1 |
G |
T |
4: 108,457,171 (GRCm39) |
V404L |
probably benign |
Het |
| Pcsk5 |
G |
T |
19: 17,410,784 (GRCm39) |
Y1869* |
probably null |
Het |
| Phf21b |
A |
G |
15: 84,678,095 (GRCm39) |
|
probably null |
Het |
| Pigg |
A |
G |
5: 108,484,246 (GRCm39) |
T631A |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,930,190 (GRCm39) |
N349D |
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,316,637 (GRCm39) |
S976G |
probably benign |
Het |
| Scn8a |
G |
T |
15: 100,911,164 (GRCm39) |
M861I |
probably damaging |
Het |
| Stau1 |
T |
C |
2: 166,792,239 (GRCm39) |
N433S |
probably damaging |
Het |
| Synrg |
A |
G |
11: 83,910,630 (GRCm39) |
K854R |
probably benign |
Het |
| Tbata |
T |
A |
10: 61,015,234 (GRCm39) |
C150* |
probably null |
Het |
| Tcn2 |
G |
A |
11: 3,867,692 (GRCm39) |
P417S |
probably damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Tpr |
G |
T |
1: 150,274,404 (GRCm39) |
D104Y |
probably damaging |
Het |
| Ubash3b |
T |
C |
9: 40,958,333 (GRCm39) |
T16A |
probably benign |
Het |
| Uso1 |
T |
A |
5: 92,335,635 (GRCm39) |
S548T |
probably benign |
Het |
| Vps13b |
T |
A |
15: 35,709,660 (GRCm39) |
V1869E |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,120,732 (GRCm39) |
C64R |
probably benign |
Het |
| Zic2 |
C |
A |
14: 122,713,606 (GRCm39) |
N173K |
probably damaging |
Het |
|
| Other mutations in Bin3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01353:Bin3
|
APN |
14 |
70,372,275 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02871:Bin3
|
APN |
14 |
70,366,354 (GRCm39) |
nonsense |
probably null |
|
|
R0504:Bin3
|
UTSW |
14 |
70,361,336 (GRCm39) |
splice site |
probably null |
|
|
R1564:Bin3
|
UTSW |
14 |
70,372,218 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2012:Bin3
|
UTSW |
14 |
70,372,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4328:Bin3
|
UTSW |
14 |
70,356,054 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4711:Bin3
|
UTSW |
14 |
70,366,288 (GRCm39) |
splice site |
probably null |
|
|
R4857:Bin3
|
UTSW |
14 |
70,366,344 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5318:Bin3
|
UTSW |
14 |
70,371,961 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6269:Bin3
|
UTSW |
14 |
70,374,611 (GRCm39) |
missense |
probably benign |
|
|
R6303:Bin3
|
UTSW |
14 |
70,374,625 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6304:Bin3
|
UTSW |
14 |
70,374,625 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6345:Bin3
|
UTSW |
14 |
70,374,676 (GRCm39) |
missense |
probably benign |
|
|
R7365:Bin3
|
UTSW |
14 |
70,371,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8429:Bin3
|
UTSW |
14 |
70,374,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8804:Bin3
|
UTSW |
14 |
70,361,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9670:Bin3
|
UTSW |
14 |
70,367,009 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation