Incidental Mutation 'R8818:Becn1'
| ID |
672882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Becn1
|
| Ensembl Gene |
ENSMUSG00000035086 |
| Gene Name |
beclin 1, autophagy related |
| Synonyms |
Atg6 |
| MMRRC Submission |
068651-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8818 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
101179084-101193112 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 101186230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 125
(S125T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041403]
[ENSMUST00000126195]
[ENSMUST00000129863]
[ENSMUST00000130916]
[ENSMUST00000140706]
[ENSMUST00000167667]
[ENSMUST00000167818]
[ENSMUST00000170502]
[ENSMUST00000172233]
|
| 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 damaging
Transcript: ENSMUST00000126195
AA Change: S57T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000122168
Gene: ENSMUSG00000035086
AA Change: S57T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BH3
|
35 |
59 |
5.6e-22 |
PFAM |
|
Pfam:APG6
|
65 |
147 |
1.8e-17 |
PFAM |
|
| 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 damaging
Transcript: ENSMUST00000130916
AA Change: S125T
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119369
Gene: ENSMUSG00000035086
AA Change: S125T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BH3
|
103 |
127 |
4.1e-20 |
PFAM |
|
Pfam:APG6
|
133 |
444 |
1.1e-131 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140706
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167667
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167818
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170502
|
| 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 |
|
| Meta Mutation Damage Score |
0.2711 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (55/56) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
G |
T |
7: 119,815,524 (GRCm39) |
M257I |
probably benign |
Het |
| Adam23 |
T |
C |
1: 63,584,627 (GRCm39) |
V345A |
probably damaging |
Het |
| Anxa6 |
T |
G |
11: 54,902,578 (GRCm39) |
N52T |
possibly damaging |
Het |
| Arhgef15 |
G |
A |
11: 68,841,938 (GRCm39) |
H496Y |
probably damaging |
Het |
| Atp2a3 |
A |
G |
11: 72,872,765 (GRCm39) |
E771G |
probably damaging |
Het |
| B3gnt5 |
A |
G |
16: 19,588,347 (GRCm39) |
T189A |
possibly damaging |
Het |
| Bltp1 |
T |
G |
3: 37,050,697 (GRCm39) |
M3011R |
possibly damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,900,484 (GRCm39) |
M283V |
probably benign |
Het |
| Cdh17 |
T |
C |
4: 11,771,323 (GRCm39) |
F35S |
probably damaging |
Het |
| Clcn1 |
T |
A |
6: 42,282,477 (GRCm39) |
I515N |
probably damaging |
Het |
| Cyp4f17 |
A |
G |
17: 32,743,068 (GRCm39) |
Y247C |
probably damaging |
Het |
| Dcp1a |
T |
A |
14: 30,240,899 (GRCm39) |
H236Q |
possibly damaging |
Het |
| Dnah11 |
T |
A |
12: 117,874,764 (GRCm39) |
N4034Y |
probably damaging |
Het |
| Dsg1a |
A |
G |
18: 20,473,599 (GRCm39) |
I891V |
possibly damaging |
Het |
| Eid3 |
A |
G |
10: 82,703,441 (GRCm39) |
N301D |
probably damaging |
Het |
| Fbrs |
C |
A |
7: 127,078,694 (GRCm39) |
D108E |
unknown |
Het |
| Fbxw14 |
A |
C |
9: 109,116,071 (GRCm39) |
|
probably benign |
Het |
| Fzd8 |
A |
G |
18: 9,214,474 (GRCm39) |
T519A |
probably benign |
Het |
| Gldc |
C |
G |
19: 30,078,212 (GRCm39) |
M928I |
probably benign |
Het |
| Gpr3 |
C |
A |
4: 132,938,538 (GRCm39) |
V45L |
possibly damaging |
Het |
| Gramd1b |
A |
T |
9: 40,215,780 (GRCm39) |
I690K |
probably benign |
Het |
| Grhl2 |
T |
A |
15: 37,270,912 (GRCm39) |
D33E |
probably damaging |
Het |
| Kcnj4 |
C |
A |
15: 79,369,920 (GRCm39) |
R20L |
probably damaging |
Het |
| Klhl5 |
A |
G |
5: 65,305,989 (GRCm39) |
I319V |
probably benign |
Het |
| Lars2 |
A |
T |
9: 123,221,892 (GRCm39) |
E135D |
possibly damaging |
Het |
| Map9 |
T |
A |
3: 82,291,270 (GRCm39) |
Y602N |
possibly damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,463,027 (GRCm39) |
L6* |
probably null |
Het |
| Naa35 |
C |
T |
13: 59,748,761 (GRCm39) |
T131M |
probably damaging |
Het |
| Nucb2 |
T |
A |
7: 116,121,136 (GRCm39) |
L22Q |
possibly damaging |
Het |
| Or8g26 |
A |
G |
9: 39,096,062 (GRCm39) |
Y193C |
probably damaging |
Het |
| Or8k28 |
C |
A |
2: 86,286,078 (GRCm39) |
C179F |
probably damaging |
Het |
| Pcdhb6 |
C |
T |
18: 37,468,837 (GRCm39) |
T586I |
probably benign |
Het |
| Ppcs |
A |
T |
4: 119,279,330 (GRCm39) |
L74Q |
probably damaging |
Het |
| Ppp6r3 |
A |
T |
19: 3,517,216 (GRCm39) |
V677D |
probably benign |
Het |
| Psg27 |
C |
T |
7: 18,294,337 (GRCm39) |
G357S |
probably damaging |
Het |
| Ptgdr2 |
A |
G |
19: 10,918,380 (GRCm39) |
N299S |
probably damaging |
Het |
| Relb |
T |
A |
7: 19,353,762 (GRCm39) |
I39F |
probably damaging |
Het |
| Ripor2 |
T |
A |
13: 24,901,651 (GRCm39) |
S907R |
possibly damaging |
Het |
| Rnf170 |
T |
G |
8: 26,629,043 (GRCm39) |
D172E |
probably benign |
Het |
| Rnf31 |
C |
A |
14: 55,832,396 (GRCm39) |
Q273K |
probably benign |
Het |
| Rrp36 |
A |
T |
17: 46,983,336 (GRCm39) |
S93T |
probably damaging |
Het |
| Rsad1 |
A |
T |
11: 94,439,100 (GRCm39) |
V120D |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,661,441 (GRCm39) |
A1870T |
probably damaging |
Het |
| Serpina10 |
T |
G |
12: 103,595,063 (GRCm39) |
D52A |
probably benign |
Het |
| Slc47a1 |
A |
G |
11: 61,261,055 (GRCm39) |
I115T |
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,920,543 (GRCm39) |
M426K |
probably benign |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
T |
G |
7: 27,063,592 (GRCm39) |
E2283A |
possibly damaging |
Het |
| Top3a |
A |
G |
11: 60,633,877 (GRCm39) |
C740R |
probably damaging |
Het |
| Tpgs2 |
A |
T |
18: 25,291,365 (GRCm39) |
V33E |
probably damaging |
Het |
| Treh |
T |
C |
9: 44,592,823 (GRCm39) |
I116T |
probably damaging |
Het |
| Trpm3 |
A |
T |
19: 22,955,952 (GRCm39) |
N1138I |
possibly damaging |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Vamp9 |
A |
T |
5: 100,089,094 (GRCm39) |
N120Y |
probably damaging |
Het |
| Zswim9 |
G |
T |
7: 12,994,456 (GRCm39) |
Q567K |
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 |
|
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 |
|
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 |
|
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'- TGTAGTTCCACGAGCCTGAG -3'
(R):5'- CAGAAAGTGCTAATAGCTTCACTC -3'
Sequencing Primer
(F):5'- TCCACGAGCCTGAGGGGAG -3'
(R):5'- AATAGCTTCACTCTGATCGGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation