Mutagenetix > Incidental Mutation

Incidental Mutation 'R8220:Becn1'

636646

Institutional Source

Beutler Lab

Gene Symbol

Becn1

Ensembl Gene

ENSMUSG00000035086

Gene Name

beclin 1, autophagy related

Synonyms

Atg6

MMRRC Submission

067638-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101179084-101193112 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101187105 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 78 (R78Q)

Ref Sequence

ENSEMBL: ENSMUSP00000119369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041403] [ENSMUST00000126195] [ENSMUST00000129863] [ENSMUST00000130916] [ENSMUST00000140706] [ENSMUST00000167667] [ENSMUST00000167818] [ENSMUST00000170502] [ENSMUST00000172233]

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

possibly damaging
Transcript: ENSMUST00000041403
AA Change: R78Q

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000126195
AA Change: R10Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122168
Gene: ENSMUSG00000035086
AA Change: R10Q

Domain	Start	End	E-Value	Type
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

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130916
AA Change: R78Q

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119369
Gene: ENSMUSG00000035086
AA Change: R78Q

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140706
AA Change: R78Q

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000167667

Predicted Effect

probably benign
Transcript: ENSMUST00000167818

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170502
AA Change: R78Q

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably damaging
Transcript: ENSMUST00000172233
AA Change: R78Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129156
Gene: ENSMUSG00000035086
AA Change: R78Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.1%

Validation Efficiency

100% (78/78)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057N15Rik	A	T	16: 88,570,723 (GRCm39)	C106S	probably damaging	Het
Abca13	C	T	11: 9,384,299 (GRCm39)	T3917M	possibly damaging	Het
Abcb8	T	C	5: 24,611,783 (GRCm39)	I533T	possibly damaging	Het
Bhlha9	T	C	11: 76,563,703 (GRCm39)	I110T	probably damaging	Het
Cemip	T	C	7: 83,596,368 (GRCm39)	D1132G	probably damaging	Het
Cyth3	T	A	5: 143,687,344 (GRCm39)		probably null	Het
Dcpp2	A	G	17: 24,119,666 (GRCm39)	E160G	possibly damaging	Het
Dock10	C	T	1: 80,506,366 (GRCm39)	G1726S	probably null	Het
Dsel	T	C	1: 111,789,437 (GRCm39)	D366G	probably damaging	Het
Ednrb	A	T	14: 104,059,141 (GRCm39)	L295Q	probably damaging	Het
Etaa1	C	T	11: 17,895,690 (GRCm39)	R809K	probably benign	Het
Fahd1	A	G	17: 25,068,864 (GRCm39)	L71P	probably damaging	Het
Fat1	A	G	8: 45,492,993 (GRCm39)	E3882G	probably null	Het
Frem2	A	T	3: 53,563,928 (GRCm39)	L193*	probably null	Het
Gba2	T	G	4: 43,568,510 (GRCm39)	D652A	probably damaging	Het
Gm5460	C	T	14: 33,767,876 (GRCm39)	P220S	probably damaging	Het
Gm7137	A	T	10: 77,623,785 (GRCm39)	C84S	unknown	Het
Gm8122	G	T	14: 43,090,174 (GRCm39)		probably null	Het
H1f4	T	C	13: 23,805,922 (GRCm39)	S187G	probably benign	Het
Hyal5	A	T	6: 24,876,879 (GRCm39)	I251L	probably benign	Het
Igf2r	A	T	17: 12,910,958 (GRCm39)	S1953R	probably benign	Het
Igkc	C	A	6: 70,703,666 (GRCm39)	N82K		Het
Il18	T	A	9: 50,486,616 (GRCm39)	M15K	possibly damaging	Het
Insr	T	A	8: 3,208,702 (GRCm39)	E1253V	probably benign	Het
Itgax	A	G	7: 127,730,090 (GRCm39)	Q82R	probably benign	Het
Kcnn3	A	G	3: 89,568,548 (GRCm39)	I609V	probably benign	Het
Klk14	A	G	7: 43,343,498 (GRCm39)	D110G	probably damaging	Het
Lamb3	T	A	1: 193,016,556 (GRCm39)	L679Q	probably damaging	Het
Lgsn	C	T	1: 31,235,881 (GRCm39)	A115V	probably benign	Het
Lipt1	C	T	1: 37,914,706 (GRCm39)	T254M	probably damaging	Het
Lrrc3b	T	C	14: 15,358,004 (GRCm38)	T201A	probably damaging	Het
Lrrc49	T	A	9: 60,517,613 (GRCm39)	D432V	probably benign	Het
Meltf	A	G	16: 31,706,233 (GRCm39)	N239S	probably benign	Het
Mki67	G	A	7: 135,299,850 (GRCm39)	A1728V	probably benign	Het
Mms22l	T	A	4: 24,536,375 (GRCm39)	L615I	probably damaging	Het
Mtcl3	C	T	10: 29,023,264 (GRCm39)	Q204*	probably null	Het
Mttp	C	A	3: 137,829,609 (GRCm39)	G93V	probably benign	Het
Muc4	A	T	16: 32,575,701 (GRCm39)	T1734S	unknown	Het
Myh9	C	T	15: 77,648,747 (GRCm39)	R1703Q	possibly damaging	Het
N4bp1	T	C	8: 87,571,315 (GRCm39)	*894W	probably null	Het
Nab2	C	A	10: 127,498,645 (GRCm39)	V475L	probably benign	Het
Nup43	C	T	10: 7,552,097 (GRCm39)	A295V	probably benign	Het
Or1af1	T	C	2: 37,109,791 (GRCm39)	C97R	probably benign	Het
Or4b12	T	C	2: 90,096,387 (GRCm39)	H129R	probably benign	Het
Or7g32	G	T	9: 19,408,317 (GRCm39)	S91I	probably damaging	Het
Or8k3	C	T	2: 86,059,309 (GRCm39)	G2E	probably benign	Het
Or9m2	C	T	2: 87,820,496 (GRCm39)	L14F	probably damaging	Het
Pcdha11	A	G	18: 37,139,624 (GRCm39)	T418A	probably benign	Het
Pdzd2	T	C	15: 12,592,249 (GRCm39)	K132E	probably damaging	Het
Pira13	T	C	7: 3,825,903 (GRCm39)	E322G	unknown	Het
Plec	C	T	15: 76,062,497 (GRCm39)	R2480H	possibly damaging	Het
Plscr2	G	A	9: 92,177,713 (GRCm39)	G293D	probably damaging	Het
Prr23a4	A	G	9: 98,785,581 (GRCm39)	D82G	probably benign	Het
Ptchd4	A	G	17: 42,813,554 (GRCm39)	H485R	probably benign	Het
Rbbp9	A	T	2: 144,389,986 (GRCm39)	M59K	probably null	Het
Rest	G	A	5: 77,430,325 (GRCm39)	A915T	probably benign	Het
Rhbdf1	C	T	11: 32,164,563 (GRCm39)	A168T	probably benign	Het
Scamp2	A	T	9: 57,484,953 (GRCm39)	Q53L	probably benign	Het
Scn2a	T	C	2: 65,520,620 (GRCm39)	F539L	probably benign	Het
Sdr16c6	A	T	4: 4,076,872 (GRCm39)	I9N	probably benign	Het
Slc23a3	T	A	1: 75,110,511 (GRCm39)		probably benign	Het
Slc6a19	A	G	13: 73,833,889 (GRCm39)	S390P	probably damaging	Het
Snx11	C	T	11: 96,661,885 (GRCm39)	R99Q	probably damaging	Het
Suclg2	T	A	6: 95,565,927 (GRCm39)	I189F	possibly damaging	Het
Tedc1	T	C	12: 113,120,375 (GRCm39)		probably null	Het
Timeless	A	T	10: 128,082,265 (GRCm39)	R598W	probably damaging	Het
Tm9sf3	A	T	19: 41,203,526 (GRCm39)	N583K	possibly damaging	Het
Tox3	A	G	8: 90,984,708 (GRCm39)	V157A	probably damaging	Het
Tpr	G	T	1: 150,308,164 (GRCm39)	V1640L	probably benign	Het
Trav7-4	C	T	14: 53,699,102 (GRCm39)	A83V	probably benign	Het
Trdn	A	G	10: 33,326,981 (GRCm39)	K590R	possibly damaging	Het
Trim11	T	C	11: 58,881,220 (GRCm39)	L371P	probably damaging	Het
Trim5	T	A	7: 103,926,033 (GRCm39)	Q176L	probably damaging	Het
Tubgcp2	T	C	7: 139,586,053 (GRCm39)	H412R	possibly damaging	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Ush2a	T	A	1: 188,460,863 (GRCm39)	V2708E	probably damaging	Het
Vmn1r87	T	A	7: 12,865,427 (GRCm39)	T287S	possibly damaging	Het
Zbtb7a	A	G	10: 80,980,838 (GRCm39)	D344G	probably damaging	Het
Zfp560	G	T	9: 20,260,348 (GRCm39)	N171K	probably benign	Het
Zfp579	A	T	7: 4,996,850 (GRCm39)	C354S	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
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
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'- TTCTCAGTGTGTAAAGGACTACAGAG -3'
(R):5'- GATAACTACTCACTTCTTAAGTTGCTC -3'

Sequencing Primer
(F):5'- CAGCTTTCCTAAAAAGAGCC -3'
(R):5'- ATTGTGACTTCCAGGACAGC -3'

Posted On

2020-07-13