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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

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 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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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