Incidental Mutation 'IGL02472:Becn1'
ID |
294781 |
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 # |
IGL02472
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
101179084-101193112 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 101182224 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 115
(G115D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116580
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041403]
[ENSMUST00000103107]
[ENSMUST00000126195]
[ENSMUST00000129863]
[ENSMUST00000172233]
[ENSMUST00000130916]
[ENSMUST00000167667]
[ENSMUST00000140706]
[ENSMUST00000167818]
[ENSMUST00000170502]
|
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
AA Change: G115D
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000116580 Gene: ENSMUSG00000035086 AA Change: G115D
Domain | Start | End | E-Value | Type |
Pfam:APG6
|
6 |
125 |
1.5e-57 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000172233
AA Change: G244D
|
SMART Domains |
Protein: ENSMUSP00000129156 Gene: ENSMUSG00000035086 AA Change: G244D
Domain | Start | End | E-Value | Type |
Pfam:APG6
|
79 |
274 |
3.7e-75 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130916
AA Change: G320D
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000119369 Gene: ENSMUSG00000035086 AA Change: G320D
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 |
noncoding transcript
Transcript: ENSMUST00000164036
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153438
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140286
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135805
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136535
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167667
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140706
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167818
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170502
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
A |
G |
15: 76,834,578 (GRCm39) |
N158S |
probably damaging |
Het |
Ankrd17 |
A |
C |
5: 90,412,010 (GRCm39) |
L1285V |
probably damaging |
Het |
Atp8b2 |
G |
A |
3: 89,861,546 (GRCm39) |
T267I |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Chd6 |
A |
C |
2: 160,826,372 (GRCm39) |
|
probably benign |
Het |
Col22a1 |
A |
G |
15: 71,699,602 (GRCm39) |
|
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnm2 |
A |
G |
9: 21,397,004 (GRCm39) |
I494V |
possibly damaging |
Het |
Dock2 |
T |
A |
11: 34,199,801 (GRCm39) |
E1416D |
probably benign |
Het |
Eif2ak1 |
A |
G |
5: 143,821,701 (GRCm39) |
H339R |
probably benign |
Het |
Espnl |
C |
T |
1: 91,268,256 (GRCm39) |
P294L |
probably benign |
Het |
Ftmt |
T |
A |
18: 52,464,912 (GRCm39) |
I76N |
possibly damaging |
Het |
Gorasp2 |
T |
G |
2: 70,506,803 (GRCm39) |
|
probably benign |
Het |
Hadhb |
T |
A |
5: 30,389,061 (GRCm39) |
M468K |
possibly damaging |
Het |
Hfm1 |
A |
G |
5: 107,021,794 (GRCm39) |
|
probably benign |
Het |
Inpp5j |
T |
C |
11: 3,445,338 (GRCm39) |
|
probably benign |
Het |
Ipo7 |
T |
A |
7: 109,640,060 (GRCm39) |
F288I |
probably damaging |
Het |
Kcnv1 |
T |
A |
15: 44,972,519 (GRCm39) |
K455* |
probably null |
Het |
Kdm5a |
A |
G |
6: 120,383,691 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
G |
A |
15: 98,747,958 (GRCm39) |
S3122F |
probably benign |
Het |
Kndc1 |
A |
G |
7: 139,490,817 (GRCm39) |
I440V |
probably benign |
Het |
Mib2 |
T |
A |
4: 155,741,203 (GRCm39) |
I545F |
probably damaging |
Het |
Nav2 |
C |
T |
7: 49,195,789 (GRCm39) |
P1055L |
probably damaging |
Het |
Or4c10b |
T |
A |
2: 89,711,755 (GRCm39) |
I195N |
probably benign |
Het |
Or5v1b |
C |
A |
17: 37,841,640 (GRCm39) |
F257L |
probably damaging |
Het |
Plch1 |
A |
T |
3: 63,609,270 (GRCm39) |
L65Q |
probably damaging |
Het |
Polr1g |
T |
C |
7: 19,093,030 (GRCm39) |
D50G |
probably damaging |
Het |
Ppp3ca |
A |
G |
3: 136,627,623 (GRCm39) |
I396V |
possibly damaging |
Het |
Ryr1 |
A |
T |
7: 28,740,269 (GRCm39) |
N3917K |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,582,658 (GRCm39) |
T80A |
probably damaging |
Het |
Sema3f |
C |
T |
9: 107,564,935 (GRCm39) |
E307K |
probably damaging |
Het |
Serpinb9b |
A |
T |
13: 33,223,953 (GRCm39) |
|
probably benign |
Het |
Siglec15 |
T |
A |
18: 78,086,832 (GRCm39) |
K342N |
possibly damaging |
Het |
Slc2a12 |
T |
C |
10: 22,541,054 (GRCm39) |
F303S |
probably damaging |
Het |
Slc9c1 |
T |
C |
16: 45,400,505 (GRCm39) |
V705A |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,423,383 (GRCm39) |
|
probably benign |
Het |
Tm6sf1 |
A |
T |
7: 81,525,572 (GRCm39) |
|
probably benign |
Het |
Tmem245 |
T |
C |
4: 56,899,119 (GRCm39) |
Y269C |
probably damaging |
Het |
Txndc2 |
A |
G |
17: 65,944,971 (GRCm39) |
I402T |
possibly damaging |
Het |
Ube4b |
A |
G |
4: 149,471,536 (GRCm39) |
|
probably null |
Het |
Usp28 |
T |
A |
9: 48,949,069 (GRCm39) |
Y863N |
possibly damaging |
Het |
Vmn2r69 |
T |
C |
7: 85,058,960 (GRCm39) |
I534V |
probably benign |
Het |
Wdr89 |
A |
T |
12: 75,679,743 (GRCm39) |
D170E |
probably damaging |
Het |
Zfp280d |
C |
A |
9: 72,208,993 (GRCm39) |
N74K |
probably damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
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 |
IGL02269:Becn1
|
APN |
11 |
101,182,361 (GRCm39) |
splice site |
probably benign |
|
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 |