Incidental Mutation 'R1422:Becn1'
ID |
161136 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Becn1
|
Ensembl Gene |
ENSMUSG00000035086 |
Gene Name |
beclin 1, autophagy related |
Synonyms |
Atg6 |
MMRRC Submission |
039478-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1422 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
101179084-101193112 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101185952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 98
(D98G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129156
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041403]
[ENSMUST00000126195]
[ENSMUST00000129863]
[ENSMUST00000130916]
[ENSMUST00000172233]
[ENSMUST00000140706]
[ENSMUST00000167667]
[ENSMUST00000167818]
[ENSMUST00000170502]
|
AlphaFold |
O88597 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041403
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122817
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126195
AA Change: D106G
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000122168 Gene: ENSMUSG00000035086 AA Change: D106G
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 benign
Transcript: ENSMUST00000130916
AA Change: D174G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000119369 Gene: ENSMUSG00000035086 AA Change: D174G
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: ENSMUST00000135805
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172233
AA Change: D98G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000129156 Gene: ENSMUSG00000035086 AA Change: D98G
Domain | Start | End | E-Value | Type |
Pfam:APG6
|
79 |
274 |
3.7e-75 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139997
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140286
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136535
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164036
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153438
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139669
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140706
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167667
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167818
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170502
|
Meta Mutation Damage Score |
0.1326 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.6%
|
Validation Efficiency |
100% (51/51) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700062C07Rik |
A |
G |
18: 24,610,333 (GRCm39) |
T170A |
probably benign |
Het |
Arhgap5 |
T |
A |
12: 52,566,297 (GRCm39) |
D1089E |
probably damaging |
Het |
Atrn |
T |
C |
2: 130,799,834 (GRCm39) |
Y404H |
probably damaging |
Het |
Coro2b |
A |
G |
9: 62,336,229 (GRCm39) |
|
probably null |
Het |
Cpne4 |
T |
C |
9: 104,777,484 (GRCm39) |
I143T |
probably damaging |
Het |
Cr2 |
A |
G |
1: 194,853,433 (GRCm39) |
I35T |
probably benign |
Het |
Ctns |
T |
C |
11: 73,076,072 (GRCm39) |
Y321C |
probably damaging |
Het |
Cyp4f16 |
A |
T |
17: 32,761,973 (GRCm39) |
M174L |
probably damaging |
Het |
Dpy19l4 |
T |
C |
4: 11,317,168 (GRCm39) |
E10G |
possibly damaging |
Het |
Dtx3 |
T |
A |
10: 127,027,158 (GRCm39) |
I339F |
possibly damaging |
Het |
Fam184a |
A |
T |
10: 53,551,304 (GRCm39) |
M625K |
probably benign |
Het |
Fgd6 |
A |
G |
10: 93,881,234 (GRCm39) |
E696G |
probably damaging |
Het |
Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
Gria1 |
T |
A |
11: 57,080,614 (GRCm39) |
L199Q |
probably benign |
Het |
Hk1 |
T |
C |
10: 62,131,873 (GRCm39) |
D184G |
probably null |
Het |
Ift88 |
T |
C |
14: 57,675,758 (GRCm39) |
|
probably benign |
Het |
Ift88 |
G |
A |
14: 57,710,436 (GRCm39) |
V403M |
probably damaging |
Het |
Igsf1 |
C |
A |
X: 48,871,813 (GRCm39) |
G737* |
probably null |
Het |
Kif19a |
A |
G |
11: 114,676,635 (GRCm39) |
D488G |
probably benign |
Het |
Lpcat2 |
T |
C |
8: 93,606,045 (GRCm39) |
L232P |
probably damaging |
Het |
Ly9 |
A |
G |
1: 171,428,780 (GRCm39) |
V280A |
probably damaging |
Het |
Macrod2 |
T |
A |
2: 140,261,861 (GRCm39) |
|
probably null |
Het |
Mmp1a |
A |
G |
9: 7,464,298 (GRCm39) |
|
probably null |
Het |
Mmrn2 |
A |
G |
14: 34,118,196 (GRCm39) |
H80R |
probably damaging |
Het |
Or2b4 |
T |
C |
17: 38,116,254 (GRCm39) |
Y73H |
probably damaging |
Het |
Or51f23 |
G |
A |
7: 102,453,057 (GRCm39) |
R124H |
probably benign |
Het |
Or5l13 |
G |
A |
2: 87,780,439 (GRCm39) |
T46I |
probably benign |
Het |
Pkd1l3 |
C |
A |
8: 110,348,340 (GRCm39) |
P194H |
unknown |
Het |
Plk2 |
A |
G |
13: 110,536,023 (GRCm39) |
M576V |
probably damaging |
Het |
Pms2 |
T |
A |
5: 143,850,523 (GRCm39) |
S113T |
probably damaging |
Het |
Ptprk |
A |
G |
10: 28,351,276 (GRCm39) |
I590V |
possibly damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Rad17 |
A |
G |
13: 100,781,590 (GRCm39) |
L69P |
probably benign |
Het |
Rmc1 |
G |
A |
18: 12,314,680 (GRCm39) |
D87N |
probably damaging |
Het |
Robo2 |
G |
A |
16: 73,775,336 (GRCm39) |
T466M |
probably damaging |
Het |
Sema6a |
A |
G |
18: 47,439,498 (GRCm39) |
C9R |
probably benign |
Het |
Slc6a19 |
A |
G |
13: 73,833,988 (GRCm39) |
S357P |
probably benign |
Het |
Spata31e2 |
C |
G |
1: 26,721,547 (GRCm39) |
S1211T |
possibly damaging |
Het |
Spock3 |
T |
C |
8: 63,597,023 (GRCm39) |
I109T |
possibly damaging |
Het |
Svs6 |
T |
C |
2: 164,159,580 (GRCm39) |
|
probably null |
Het |
Tenm4 |
A |
T |
7: 96,199,258 (GRCm39) |
D17V |
probably damaging |
Het |
Trp53bp2 |
T |
A |
1: 182,274,029 (GRCm39) |
M558K |
probably benign |
Het |
Ttn |
T |
C |
2: 76,572,014 (GRCm39) |
E26293G |
probably damaging |
Het |
Vmn1r29 |
A |
G |
6: 58,284,871 (GRCm39) |
Y197C |
probably damaging |
Het |
Wdfy3 |
A |
T |
5: 102,032,080 (GRCm39) |
|
probably benign |
Het |
Zfp366 |
A |
G |
13: 99,365,804 (GRCm39) |
K322E |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCAAGTGTGTTTTCAGAGCCC -3'
(R):5'- CTGGACACTCAGCTCAATGTCACTG -3'
Sequencing Primer
(F):5'- GGAGCAGACATTATACTACTGCCTG -3'
(R):5'- CTCAGCTCAATGTCACTGAGAATG -3'
|
Posted On |
2014-03-14 |