Incidental Mutation 'IGL02269:Becn1'
| ID |
287082 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Becn1
|
| Ensembl Gene |
ENSMUSG00000035086 |
| Gene Name |
beclin 1, autophagy related |
| Synonyms |
Atg6 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02269
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
101179084-101193112 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 101182361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129156
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041403]
[ENSMUST00000103107]
[ENSMUST00000126195]
[ENSMUST00000129863]
[ENSMUST00000130916]
[ENSMUST00000167818]
[ENSMUST00000167667]
[ENSMUST00000172233]
[ENSMUST00000170502]
[ENSMUST00000140706]
|
| AlphaFold |
O88597 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041403
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103107
|
| SMART Domains |
Protein: ENSMUSP00000099396
Gene: ENSMUSG00000078653
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Cyclin_N
|
111 |
180 |
1.8e-6 |
PFAM |
|
low complexity region
|
212 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
319 |
330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122817
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126195
|
| SMART Domains |
Protein: ENSMUSP00000122168
Gene: ENSMUSG00000035086
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BH3
|
35 |
59 |
5.6e-22 |
PFAM |
|
Pfam:APG6
|
65 |
147 |
1.8e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128735
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129863
|
| SMART Domains |
Protein: ENSMUSP00000116580
Gene: ENSMUSG00000035086
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:APG6
|
6 |
125 |
1.5e-57 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130916
|
| SMART Domains |
Protein: ENSMUSP00000119369
Gene: ENSMUSG00000035086
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BH3
|
103 |
127 |
4.1e-20 |
PFAM |
|
Pfam:APG6
|
133 |
444 |
1.1e-131 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139997
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167818
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167667
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136535
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172233
|
| SMART Domains |
Protein: ENSMUSP00000129156
Gene: ENSMUSG00000035086
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:APG6
|
79 |
274 |
3.7e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140286
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153438
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164036
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170502
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140706
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that regulates autophagy, a catabolic process of degradation induced by starvation. The encoded protein is a component of the phosphatidylinositol-3-kinase (PI3K) complex which mediates vesicle-trafficking processes. This protein is thought to play a role in multiple cellular processes, including tumorigenesis, neurodegeneration and apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice heterozygous for this allele exhibit premature death, increased tumor incidence and reduced autophagy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
A |
G |
11: 50,833,425 (GRCm39) |
V59A |
unknown |
Het |
| A2ml1 |
C |
A |
6: 128,530,301 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
G |
A |
7: 75,252,659 (GRCm39) |
R263H |
probably benign |
Het |
| B3galt5 |
A |
G |
16: 96,116,730 (GRCm39) |
D121G |
possibly damaging |
Het |
| Carmil1 |
A |
T |
13: 24,339,393 (GRCm39) |
L150* |
probably null |
Het |
| Cep170 |
A |
T |
1: 176,596,932 (GRCm39) |
M475K |
probably benign |
Het |
| Cyp24a1 |
C |
T |
2: 170,338,492 (GRCm39) |
G68D |
probably damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,742,547 (GRCm39) |
I18N |
probably benign |
Het |
| Dmrt2 |
T |
C |
19: 25,655,823 (GRCm39) |
V474A |
probably benign |
Het |
| Dtnb |
A |
G |
12: 3,646,691 (GRCm39) |
D64G |
probably damaging |
Het |
| Epb41l3 |
T |
C |
17: 69,554,568 (GRCm39) |
S223P |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,498,360 (GRCm39) |
Y240H |
possibly damaging |
Het |
| Extl3 |
T |
C |
14: 65,315,032 (GRCm39) |
Y50C |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 15,826,873 (GRCm39) |
S4360A |
possibly damaging |
Het |
| Fbxo9 |
A |
T |
9: 77,994,835 (GRCm39) |
V230E |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,609,045 (GRCm39) |
M971T |
probably benign |
Het |
| Gm7275 |
A |
G |
16: 47,894,185 (GRCm39) |
|
noncoding transcript |
Het |
| Hyal6 |
C |
T |
6: 24,740,858 (GRCm39) |
T337I |
probably damaging |
Het |
| Obsl1 |
C |
T |
1: 75,464,357 (GRCm39) |
V1650M |
probably damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,579 (GRCm39) |
S188T |
possibly damaging |
Het |
| Or52z14 |
T |
A |
7: 103,253,089 (GRCm39) |
I76N |
probably damaging |
Het |
| Or7e169 |
A |
T |
9: 19,757,024 (GRCm39) |
I297N |
possibly damaging |
Het |
| Or8c8 |
A |
T |
9: 38,165,232 (GRCm39) |
D173V |
possibly damaging |
Het |
| Pcdh7 |
A |
C |
5: 58,070,664 (GRCm39) |
E1114A |
probably damaging |
Het |
| Pde8a |
C |
T |
7: 80,958,550 (GRCm39) |
|
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,667,731 (GRCm39) |
S628C |
probably damaging |
Het |
| Pear1 |
C |
T |
3: 87,663,571 (GRCm39) |
G376S |
probably damaging |
Het |
| Plekha6 |
C |
T |
1: 133,215,587 (GRCm39) |
T644M |
possibly damaging |
Het |
| Plpp1 |
T |
A |
13: 112,993,526 (GRCm39) |
C153S |
probably damaging |
Het |
| Ptpn3 |
G |
A |
4: 57,197,510 (GRCm39) |
T793M |
possibly damaging |
Het |
| Rdh13 |
A |
T |
7: 4,448,497 (GRCm39) |
L5Q |
possibly damaging |
Het |
| Rimbp2 |
G |
T |
5: 128,851,359 (GRCm39) |
D862E |
probably damaging |
Het |
| Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
| Scamp1 |
C |
T |
13: 94,368,694 (GRCm39) |
|
probably benign |
Het |
| Scamp3 |
A |
G |
3: 89,088,041 (GRCm39) |
T178A |
probably benign |
Het |
| Sh3tc1 |
A |
G |
5: 35,863,628 (GRCm39) |
V853A |
probably benign |
Het |
| Snrnp200 |
C |
T |
2: 127,071,911 (GRCm39) |
T1197M |
possibly damaging |
Het |
| Sult3a1 |
T |
C |
10: 33,755,259 (GRCm39) |
F275L |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,473,029 (GRCm39) |
I905F |
probably damaging |
Het |
| Tgm3 |
T |
A |
2: 129,866,438 (GRCm39) |
S119T |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,845,357 (GRCm39) |
D424E |
possibly damaging |
Het |
| Tmem45b |
G |
T |
9: 31,339,279 (GRCm39) |
C145* |
probably null |
Het |
| Unc5c |
G |
A |
3: 141,494,743 (GRCm39) |
R352H |
probably damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,234,343 (GRCm39) |
L623P |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 84,870,947 (GRCm39) |
M779V |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,309,393 (GRCm39) |
N902S |
probably benign |
Het |
|
| Other mutations in Becn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00325:Becn1
|
APN |
11 |
101,186,448 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL01296:Becn1
|
APN |
11 |
101,182,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01303:Becn1
|
APN |
11 |
101,185,811 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01311:Becn1
|
APN |
11 |
101,182,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02472:Becn1
|
APN |
11 |
101,182,224 (GRCm39) |
missense |
probably benign |
0.03 |
|
indisposed
|
UTSW |
11 |
101,182,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0123:Becn1
|
UTSW |
11 |
101,181,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0147:Becn1
|
UTSW |
11 |
101,192,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Becn1
|
UTSW |
11 |
101,181,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1422:Becn1
|
UTSW |
11 |
101,185,952 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1840:Becn1
|
UTSW |
11 |
101,186,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4097:Becn1
|
UTSW |
11 |
101,185,092 (GRCm39) |
intron |
probably benign |
|
|
R5041:Becn1
|
UTSW |
11 |
101,179,662 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5119:Becn1
|
UTSW |
11 |
101,182,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5319:Becn1
|
UTSW |
11 |
101,179,629 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R5602:Becn1
|
UTSW |
11 |
101,179,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6178:Becn1
|
UTSW |
11 |
101,182,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Becn1
|
UTSW |
11 |
101,186,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7076:Becn1
|
UTSW |
11 |
101,186,150 (GRCm39) |
missense |
probably benign |
|
|
R7438:Becn1
|
UTSW |
11 |
101,185,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7831:Becn1
|
UTSW |
11 |
101,181,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8220:Becn1
|
UTSW |
11 |
101,187,105 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8818:Becn1
|
UTSW |
11 |
101,186,230 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9422:Becn1
|
UTSW |
11 |
101,192,832 (GRCm39) |
intron |
probably benign |
|
|
X0011:Becn1
|
UTSW |
11 |
101,180,648 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2015-04-16 |
Incidental Mutation