Mutagenetix > Incidental Mutation

Incidental Mutation 'R0123:Becn1'

21180

Institutional Source

Beutler Lab

Gene Symbol

Becn1

Ensembl Gene

ENSMUSG00000035086

Gene Name

beclin 1, autophagy related

Synonyms

Atg6

MMRRC Submission

038408-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0123 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

101179084-101193112 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101181324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 326 (Y326H)

Ref Sequence

ENSEMBL: ENSMUSP00000119369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041403] [ENSMUST00000103107] [ENSMUST00000126195] [ENSMUST00000129863] [ENSMUST00000130916] [ENSMUST00000172233] [ENSMUST00000167667] [ENSMUST00000167818]

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:BH3	35	59	5.6e-22	PFAM
Pfam:APG6	65	147	1.8e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128735

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129863
AA Change: Y121H

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116580
Gene: ENSMUSG00000035086
AA Change: Y121H

Domain	Start	End	E-Value	Type
Pfam:APG6	6	125	1.5e-57	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000130916
AA Change: Y326H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119369
Gene: ENSMUSG00000035086
AA Change: Y326H

Domain	Start	End	E-Value	Type
Pfam:BH3	103	127	4.1e-20	PFAM
Pfam:APG6	133	444	1.1e-131	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000172233
AA Change: Y250H

SMART Domains

Protein: ENSMUSP00000129156
Gene: ENSMUSG00000035086
AA Change: Y250H

Domain	Start	End	E-Value	Type
Pfam:APG6	79	274	3.7e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167667

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153438

Predicted Effect

probably benign
Transcript: ENSMUST00000167818

Meta Mutation Damage Score

0.9633

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.1%

Validation Efficiency

99% (71/72)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,575,565 (GRCm39)		probably benign	Het
Abca16	T	A	7: 120,139,378 (GRCm39)	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,476,584 (GRCm39)	R105Q	probably damaging	Het
Bicd1	T	C	6: 149,414,448 (GRCm39)	I387T	probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Cacna1g	T	A	11: 94,300,302 (GRCm39)	H2156L	probably damaging	Het
Cd22	A	G	7: 30,566,533 (GRCm39)		probably benign	Het
Cd59b	G	A	2: 103,909,286 (GRCm39)		probably null	Het
Chn2	T	C	6: 54,267,436 (GRCm39)		probably benign	Het
Cmya5	A	G	13: 93,232,412 (GRCm39)	L892P	possibly damaging	Het
Col5a2	A	G	1: 45,446,195 (GRCm39)	I461T	probably benign	Het
Cts8	T	A	13: 61,401,391 (GRCm39)	M75L	probably benign	Het
Ddx50	A	T	10: 62,457,156 (GRCm39)		probably benign	Het
Dlg5	T	C	14: 24,197,274 (GRCm39)	M1558V	probably benign	Het
Dnlz	T	C	2: 26,241,380 (GRCm39)	N116S	probably damaging	Het
Efcab14	T	C	4: 115,597,728 (GRCm39)	F108L	probably damaging	Het
Ell2	T	C	13: 75,910,259 (GRCm39)		probably benign	Het
Fam234b	T	G	6: 135,194,072 (GRCm39)	S242A	possibly damaging	Het
Fhip2a	G	A	19: 57,369,839 (GRCm39)	D461N	probably benign	Het
Garnl3	T	C	2: 32,896,816 (GRCm39)	T608A	possibly damaging	Het
Gata3	T	C	2: 9,879,620 (GRCm39)	T119A	probably benign	Het
Hdac2	T	A	10: 36,865,180 (GRCm39)	D131E	probably benign	Het
Hira	T	A	16: 18,774,921 (GRCm39)	F949I	probably benign	Het
Il3	A	G	11: 54,156,506 (GRCm39)		probably null	Het
Itgb3	A	T	11: 104,527,914 (GRCm39)	K216N	probably damaging	Het
Jkampl	A	G	6: 73,446,402 (GRCm39)	L49P	possibly damaging	Het
Kctd21	T	A	7: 96,997,298 (GRCm39)	I257N	probably benign	Het
Kif16b	A	T	2: 142,514,295 (GRCm39)	S1215T	probably benign	Het
Lhx9	A	T	1: 138,766,417 (GRCm39)	C124S	probably damaging	Het
Lrch3	T	A	16: 32,782,124 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,486,995 (GRCm39)	E142G	probably damaging	Het
Macf1	T	C	4: 123,326,636 (GRCm39)	M2835V	possibly damaging	Het
Mndal	A	T	1: 173,685,079 (GRCm39)		probably benign	Het
Mug2	G	T	6: 122,051,673 (GRCm39)	V952L	possibly damaging	Het
Nepn	A	T	10: 52,276,533 (GRCm39)	T29S	probably damaging	Het
Nlgn1	C	T	3: 25,490,089 (GRCm39)	C546Y	probably damaging	Het
Notch4	C	T	17: 34,784,337 (GRCm39)	R43W	possibly damaging	Het
Nrxn1	A	T	17: 91,302,915 (GRCm39)		probably null	Het
Or14a260	A	G	7: 85,984,803 (GRCm39)	I267T	probably benign	Het
Or8k53	T	C	2: 86,178,072 (GRCm39)	I13V	possibly damaging	Het
Phf3	A	T	1: 30,844,146 (GRCm39)	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,312,700 (GRCm39)	R53G	probably benign	Het
Pnp2	T	C	14: 51,200,634 (GRCm39)	F100S	probably damaging	Het
Rimoc1	T	C	15: 4,015,776 (GRCm39)	K263E	probably damaging	Het
Rxfp1	A	G	3: 79,564,783 (GRCm39)	S327P	probably damaging	Het
Siah2	A	G	3: 58,583,536 (GRCm39)	V250A	probably damaging	Het
Slc10a7	T	A	8: 79,423,787 (GRCm39)		probably null	Het
Slc9a1	A	G	4: 133,147,916 (GRCm39)	K645E	probably benign	Het
Smarca4	T	C	9: 21,548,620 (GRCm39)	L302P	probably damaging	Het
Tas2r120	T	A	6: 132,634,552 (GRCm39)	Y211*	probably null	Het
Tenm3	A	T	8: 49,127,507 (GRCm39)	L57Q	probably damaging	Het
Tep1	C	T	14: 51,067,150 (GRCm39)	V2269I	possibly damaging	Het
Tpd52l1	A	G	10: 31,255,252 (GRCm39)	S32P	probably damaging	Het
Tsfm	A	G	10: 126,858,798 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,540,468 (GRCm39)	R34173W	probably damaging	Het
Ttn	C	A	2: 76,623,474 (GRCm39)	V15368L	possibly damaging	Het
Upk1a	A	T	7: 30,311,819 (GRCm39)	I25N	possibly damaging	Het
Vmn1r45	A	T	6: 89,910,492 (GRCm39)	Y159*	probably null	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vps13b	T	C	15: 35,887,407 (GRCm39)	I3272T	probably benign	Het
Zfp108	A	G	7: 23,959,892 (GRCm39)	H161R	probably benign	Het
Zfp982	A	T	4: 147,597,093 (GRCm39)	K150I	probably benign	Het
Zfyve1	A	G	12: 83,601,847 (GRCm39)		probably benign	Het
Zswim8	T	C	14: 20,766,558 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GGCCTTTTGTACTTTAGGCAAGTCCTC -3'
(R):5'- TATGAACTAATGAGCCCTCCCCTGCTG -3'

Sequencing Primer
(F):5'- gcaagtcctctatctctaagcc -3'
(R):5'- gctcacatctttatcccagcac -3'

Posted On

2013-04-11