Incidental Mutation 'IGL01311:Becn1'
ID 73695
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) question?
Stock # IGL01311
Quality Score
Status
Chromosome 11
Chromosomal Location 101179084-101193112 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101182342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 281 (G281S)
Ref Sequence ENSEMBL: ENSMUSP00000119369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041403] [ENSMUST00000103107] [ENSMUST00000126195] [ENSMUST00000129863] [ENSMUST00000130916] [ENSMUST00000172233] [ENSMUST00000167818] [ENSMUST00000167667] [ENSMUST00000170502] [ENSMUST00000140706]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: G76S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116580
Gene: ENSMUSG00000035086
AA Change: G76S

DomainStartEndE-ValueType
Pfam:APG6 6 125 1.5e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130916
AA Change: G281S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119369
Gene: ENSMUSG00000035086
AA Change: G281S

DomainStartEndE-ValueType
Pfam:BH3 103 127 4.1e-20 PFAM
Pfam:APG6 133 444 1.1e-131 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172233
AA Change: G205S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129156
Gene: ENSMUSG00000035086
AA Change: G205S

DomainStartEndE-ValueType
Pfam:APG6 79 274 3.7e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164036
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: ENSMUST00000153438
Predicted Effect probably benign
Transcript: ENSMUST00000167818
Predicted Effect probably benign
Transcript: ENSMUST00000167667
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 A T 7: 101,037,343 (GRCm39) K457* probably null Het
Arhgef10 C A 8: 15,041,054 (GRCm39) probably null Het
Borcs8 A G 8: 70,617,818 (GRCm39) S59G probably damaging Het
Brd10 C T 19: 29,731,420 (GRCm39) V531I probably benign Het
Capn5 C A 7: 97,811,130 (GRCm39) R53L probably damaging Het
Cdk5 C T 5: 24,624,593 (GRCm39) probably null Het
Cnksr1 A G 4: 133,957,777 (GRCm39) L434P probably damaging Het
Col22a1 C T 15: 71,845,486 (GRCm39) probably benign Het
Fn1 T C 1: 71,667,299 (GRCm39) D811G probably damaging Het
Haus3 G A 5: 34,324,988 (GRCm39) Q224* probably null Het
Jakmip2 A G 18: 43,690,389 (GRCm39) probably benign Het
Jam3 T G 9: 27,010,019 (GRCm39) T296P probably damaging Het
Kcnrg T C 14: 61,849,274 (GRCm39) L245P probably damaging Het
Kif1b A G 4: 149,305,059 (GRCm39) L909P probably damaging Het
Klrc3 T C 6: 129,618,375 (GRCm39) D136G probably damaging Het
Lrrc37 T A 11: 103,425,502 (GRCm39) R1450S unknown Het
Ltf T C 9: 110,860,080 (GRCm39) probably benign Het
Meig1 A T 2: 3,410,245 (GRCm39) V85D possibly damaging Het
Mrgprb2 T A 7: 48,201,746 (GRCm39) E326D probably benign Het
Nlrp2 T A 7: 5,322,238 (GRCm39) D65V possibly damaging Het
Or4c100 T C 2: 88,356,104 (GRCm39) F59S possibly damaging Het
Or52h7 T C 7: 104,214,036 (GRCm39) Y203H probably damaging Het
Padi2 G A 4: 140,644,948 (GRCm39) V61I probably benign Het
Pkd1l1 T C 11: 8,851,174 (GRCm39) S753G possibly damaging Het
Ppp4r3b T C 11: 29,144,591 (GRCm39) S314P probably benign Het
Serpina3i T C 12: 104,233,946 (GRCm39) S305P probably damaging Het
Slc16a4 G T 3: 107,199,821 (GRCm39) V23F possibly damaging Het
Slc25a34 G A 4: 141,348,747 (GRCm39) T239I possibly damaging Het
Srebf2 T C 15: 82,076,404 (GRCm39) probably benign Het
Tasor2 A G 13: 3,625,885 (GRCm39) V1355A possibly damaging Het
Tcf12 A T 9: 71,765,938 (GRCm39) probably benign Het
Tnpo3 T C 6: 29,586,077 (GRCm39) E171G possibly damaging Het
Ubr4 A G 4: 139,206,356 (GRCm39) H4864R possibly damaging Het
Vmn2r108 A T 17: 20,682,939 (GRCm39) L755* probably null Het
Zfp292 C T 4: 34,807,961 (GRCm39) M1699I probably benign Het
Zmynd8 T C 2: 165,647,129 (GRCm39) D880G probably damaging Het
Other mutations in Becn1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2013-10-07