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
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02472
Quality Score
Status
Chromosome 11
Chromosomal Location 101285952-101302286 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101291398 bp (GRCm38)
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] [ENSMUST00000130916] [ENSMUST00000140706] [ENSMUST00000172233] [ENSMUST00000167667] [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 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: ENSMUST00000135805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140286
Predicted Effect probably benign
Transcript: ENSMUST00000140706
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 noncoding transcript
Transcript: ENSMUST00000164036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153438
Predicted Effect probably benign
Transcript: ENSMUST00000167667
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: 76,950,378 N158S probably damaging Het
Ankrd17 A C 5: 90,264,151 L1285V probably damaging Het
Atp8b2 G A 3: 89,954,239 T267I probably damaging Het
Cd3eap T C 7: 19,359,105 D50G probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Chd6 A C 2: 160,984,452 probably benign Het
Col22a1 A G 15: 71,827,753 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnm2 A G 9: 21,485,708 I494V possibly damaging Het
Dock2 T A 11: 34,249,801 E1416D probably benign Het
Eif2ak1 A G 5: 143,884,883 H339R probably benign Het
Espnl C T 1: 91,340,534 P294L probably benign Het
Ftmt T A 18: 52,331,840 I76N possibly damaging Het
Gorasp2 T G 2: 70,676,459 probably benign Het
Hadhb T A 5: 30,184,063 M468K possibly damaging Het
Hfm1 A G 5: 106,873,928 probably benign Het
Inpp5j T C 11: 3,495,338 probably benign Het
Ipo7 T A 7: 110,040,853 F288I probably damaging Het
Kcnv1 T A 15: 45,109,123 K455* probably null Het
Kdm5a A G 6: 120,406,730 probably benign Het
Kmt2d G A 15: 98,850,077 S3122F probably benign Het
Kndc1 A G 7: 139,910,901 I440V probably benign Het
Mib2 T A 4: 155,656,746 I545F probably damaging Het
Nav2 C T 7: 49,546,041 P1055L probably damaging Het
Olfr111 C A 17: 37,530,749 F257L probably damaging Het
Olfr1257 T A 2: 89,881,411 I195N probably benign Het
Plch1 A T 3: 63,701,849 L65Q probably damaging Het
Ppp3ca A G 3: 136,921,862 I396V possibly damaging Het
Ryr1 A T 7: 29,040,844 N3917K probably damaging Het
Scn7a T C 2: 66,752,314 T80A probably damaging Het
Sema3f C T 9: 107,687,736 E307K probably damaging Het
Serpinb9b A T 13: 33,039,970 probably benign Het
Siglec15 T A 18: 78,043,617 K342N possibly damaging Het
Slc2a12 T C 10: 22,665,155 F303S probably damaging Het
Slc9c1 T C 16: 45,580,142 V705A probably benign Het
Tenm4 T C 7: 96,774,176 probably benign Het
Tm6sf1 A T 7: 81,875,824 probably benign Het
Tmem245 T C 4: 56,899,119 Y269C probably damaging Het
Txndc2 A G 17: 65,637,976 I402T possibly damaging Het
Ube4b A G 4: 149,387,079 probably null Het
Usp28 T A 9: 49,037,769 Y863N possibly damaging Het
Vmn2r69 T C 7: 85,409,752 I534V probably benign Het
Wdr89 A T 12: 75,632,969 D170E probably damaging Het
Zfp280d C A 9: 72,301,711 N74K probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Becn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Becn1 APN 11 101295622 missense probably benign 0.39
IGL01296:Becn1 APN 11 101291451 missense probably damaging 1.00
IGL01303:Becn1 APN 11 101294985 missense possibly damaging 0.92
IGL01311:Becn1 APN 11 101291516 missense probably damaging 1.00
IGL02269:Becn1 APN 11 101291535 splice site probably benign
indisposed UTSW 11 101291510 missense probably damaging 1.00
R0123:Becn1 UTSW 11 101290498 missense probably damaging 1.00
R0147:Becn1 UTSW 11 101301736 missense probably damaging 1.00
R0453:Becn1 UTSW 11 101290449 missense probably damaging 1.00
R1422:Becn1 UTSW 11 101295126 missense possibly damaging 0.92
R1840:Becn1 UTSW 11 101295566 missense probably damaging 1.00
R4097:Becn1 UTSW 11 101294266 intron probably benign
R5041:Becn1 UTSW 11 101288836 missense probably benign 0.30
R5119:Becn1 UTSW 11 101291395 missense probably damaging 1.00
R5319:Becn1 UTSW 11 101288803 utr 3 prime probably benign
R5602:Becn1 UTSW 11 101288952 missense probably damaging 1.00
R6178:Becn1 UTSW 11 101291510 missense probably damaging 1.00
R6190:Becn1 UTSW 11 101295374 missense probably damaging 1.00
R7076:Becn1 UTSW 11 101295324 missense probably benign
R7438:Becn1 UTSW 11 101294226 missense probably benign 0.00
R7831:Becn1 UTSW 11 101290453 missense probably benign 0.00
R8220:Becn1 UTSW 11 101296279 missense possibly damaging 0.95
R8818:Becn1 UTSW 11 101295404 missense probably damaging 0.98
R9422:Becn1 UTSW 11 101302006 intron probably benign
X0011:Becn1 UTSW 11 101289822 missense possibly damaging 0.87
Posted On 2015-04-16