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) question?
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

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 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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