Incidental Mutation 'R6178:Becn1'
| ID |
487888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Becn1
|
| Ensembl Gene |
ENSMUSG00000035086 |
| Gene Name |
beclin 1, autophagy related |
| Synonyms |
Atg6 |
| MMRRC Submission |
044320-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6178 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101179084-101193112 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101182336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 283
(I283F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041403]
[ENSMUST00000103107]
[ENSMUST00000126195]
[ENSMUST00000129863]
[ENSMUST00000130916]
[ENSMUST00000172233]
[ENSMUST00000140706]
[ENSMUST00000167818]
[ENSMUST00000167667]
[ENSMUST00000170502]
|
| AlphaFold |
O88597 |
| PDB Structure |
Crystal Structure of M11, the BCL-2 Homolog of Murine Gamma-herpesvirus 68, Complexed with Mouse Beclin1 (residues 106-124) [X-RAY DIFFRACTION]
|
| 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 damaging
Transcript: ENSMUST00000129863
AA Change: I78F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116580
Gene: ENSMUSG00000035086
AA Change: I78F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:APG6
|
6 |
125 |
1.5e-57 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130916
AA Change: I283F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119369
Gene: ENSMUSG00000035086
AA Change: I283F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BH3
|
103 |
127 |
4.1e-20 |
PFAM |
|
Pfam:APG6
|
133 |
444 |
1.1e-131 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172233
AA Change: I207F
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129156
Gene: ENSMUSG00000035086
AA Change: I207F
| 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: ENSMUST00000135805
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164036
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153438
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140706
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167818
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167667
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170502
|
| Meta Mutation Damage Score |
0.9611 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
98% (54/55) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,678,468 (GRCm39) |
I61V |
probably benign |
Het |
| Afg3l2 |
G |
A |
18: 67,542,598 (GRCm39) |
T616I |
possibly damaging |
Het |
| Aktip |
T |
C |
8: 91,852,671 (GRCm39) |
N195S |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
| Atg7 |
T |
A |
6: 114,701,856 (GRCm39) |
I621N |
probably damaging |
Het |
| Btnl12 |
T |
C |
16: 37,676,422 (GRCm39) |
Y115C |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,952,380 (GRCm39) |
T1220A |
probably benign |
Het |
| Celsr1 |
C |
A |
15: 85,785,222 (GRCm39) |
R3004M |
probably benign |
Het |
| Clspn |
A |
T |
4: 126,471,529 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
T |
C |
15: 48,536,854 (GRCm39) |
Y116C |
probably damaging |
Het |
| Dcp1a |
T |
G |
14: 30,245,261 (GRCm39) |
*603G |
probably null |
Het |
| Dmrtc1b |
C |
T |
X: 101,757,169 (GRCm39) |
P205S |
possibly damaging |
Het |
| Fev |
G |
T |
1: 74,923,698 (GRCm39) |
|
probably benign |
Het |
| Fry |
T |
A |
5: 150,377,987 (GRCm39) |
V393E |
probably damaging |
Het |
| Gm30646 |
A |
G |
7: 30,132,081 (GRCm39) |
|
probably null |
Het |
| Gm3676 |
C |
T |
14: 41,363,452 (GRCm39) |
E175K |
probably benign |
Het |
| Gm4847 |
T |
C |
1: 166,469,905 (GRCm39) |
Y56C |
probably damaging |
Het |
| Gm5422 |
T |
C |
10: 31,125,688 (GRCm39) |
|
noncoding transcript |
Het |
| Gstm6 |
A |
G |
3: 107,848,397 (GRCm39) |
V174A |
probably benign |
Het |
| Isoc1 |
G |
T |
18: 58,804,664 (GRCm39) |
V191F |
possibly damaging |
Het |
| Kalrn |
T |
A |
16: 33,874,009 (GRCm39) |
D132V |
possibly damaging |
Het |
| Kcp |
T |
C |
6: 29,482,887 (GRCm39) |
D1394G |
possibly damaging |
Het |
| Marchf10 |
T |
G |
11: 105,280,440 (GRCm39) |
D615A |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,495,187 (GRCm39) |
I50T |
probably damaging |
Het |
| Mgp |
A |
G |
6: 136,849,722 (GRCm39) |
C79R |
probably damaging |
Het |
| Mpdz |
T |
A |
4: 81,226,602 (GRCm39) |
K1344N |
probably damaging |
Het |
| Mrgpre |
T |
A |
7: 143,334,708 (GRCm39) |
Y265F |
possibly damaging |
Het |
| Mro |
G |
A |
18: 74,006,295 (GRCm39) |
V80M |
possibly damaging |
Het |
| Mrpl44 |
G |
T |
1: 79,755,895 (GRCm39) |
C167F |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,410,079 (GRCm39) |
M1218V |
probably null |
Het |
| Naa16 |
T |
C |
14: 79,620,780 (GRCm39) |
I100V |
possibly damaging |
Het |
| Nup205 |
A |
T |
6: 35,220,778 (GRCm39) |
Y1860F |
possibly damaging |
Het |
| Or10aa3 |
A |
T |
1: 173,878,533 (GRCm39) |
Y198F |
probably benign |
Het |
| Or14c40 |
A |
G |
7: 86,313,819 (GRCm39) |
I316M |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or4c103 |
T |
C |
2: 88,513,977 (GRCm39) |
Y33C |
probably damaging |
Het |
| Plcb3 |
A |
G |
19: 6,932,071 (GRCm39) |
|
probably null |
Het |
| Pnpla3 |
G |
A |
15: 84,065,132 (GRCm39) |
A309T |
probably benign |
Het |
| Ranbp10 |
A |
G |
8: 106,498,296 (GRCm39) |
S624P |
possibly damaging |
Het |
| Ripor2 |
T |
C |
13: 24,894,113 (GRCm39) |
S714P |
possibly damaging |
Het |
| Robo4 |
C |
T |
9: 37,316,926 (GRCm39) |
Q414* |
probably null |
Het |
| Shc2 |
A |
G |
10: 79,465,954 (GRCm39) |
I161T |
probably damaging |
Het |
| Slc35b2 |
C |
T |
17: 45,877,302 (GRCm39) |
T143I |
probably benign |
Het |
| Slc39a13 |
T |
C |
2: 90,898,880 (GRCm39) |
D77G |
probably damaging |
Het |
| Snx6 |
A |
C |
12: 54,807,249 (GRCm39) |
D243E |
probably damaging |
Het |
| Taar8b |
A |
G |
10: 23,967,711 (GRCm39) |
V161A |
probably benign |
Het |
| Tbr1 |
T |
A |
2: 61,635,159 (GRCm39) |
D36E |
possibly damaging |
Het |
| Tdpoz2 |
T |
C |
3: 93,559,618 (GRCm39) |
N118S |
probably benign |
Het |
| Tgfb1i1 |
T |
C |
7: 127,852,517 (GRCm39) |
F478L |
probably damaging |
Het |
| Tmprss11f |
T |
C |
5: 86,704,837 (GRCm39) |
D27G |
probably benign |
Het |
| Trim30d |
T |
G |
7: 104,137,202 (GRCm39) |
M1L |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,679,301 (GRCm39) |
V420A |
probably damaging |
Het |
| Ubap2 |
G |
T |
4: 41,206,981 (GRCm39) |
P199H |
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,926,212 (GRCm39) |
T512A |
probably damaging |
Het |
| Zfp65 |
G |
A |
13: 67,858,437 (GRCm39) |
P76S |
probably benign |
Het |
| Zic5 |
A |
T |
14: 122,696,748 (GRCm39) |
H622Q |
unknown |
Het |
| Zpld1 |
A |
T |
16: 55,053,993 (GRCm39) |
N266K |
probably damaging |
Het |
| Zswim1 |
A |
G |
2: 164,667,972 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTTTACCCAGGGTGCTAC -3'
(R):5'- AATTCAGTGACTCTCAGGCTTC -3'
Sequencing Primer
(F):5'- TTTACCCAGGGTGCTACGGAAG -3'
(R):5'- CAGGCTTCTACTTTGGCATTGAAGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation