Mutagenetix > Incidental Mutation

Incidental Mutation 'R6190:Becn1'

502495

Institutional Source

Beutler Lab

Gene Symbol

Becn1

Ensembl Gene

ENSMUSG00000035086

Gene Name

beclin 1, autophagy related

Synonyms

Atg6

MMRRC Submission

044330-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6190 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101179084-101193112 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101186200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 135 (C135R)

Ref Sequence

ENSEMBL: ENSMUSP00000119369 (fasta)

Gene Model

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

probably benign
Transcript: ENSMUST00000041403

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122817

Predicted Effect

probably damaging
Transcript: ENSMUST00000126195
AA Change: C67R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122168
Gene: ENSMUSG00000035086
AA Change: C67R

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

probably damaging
Transcript: ENSMUST00000130916
AA Change: C135R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119369
Gene: ENSMUSG00000035086
AA Change: C135R

Domain	Start	End	E-Value	Type
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: ENSMUST00000153438

Predicted Effect

probably benign
Transcript: ENSMUST00000170502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164036

Predicted Effect

probably benign
Transcript: ENSMUST00000140706

Predicted Effect

probably benign
Transcript: ENSMUST00000167667

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140286

Predicted Effect

probably benign
Transcript: ENSMUST00000167818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139997

Predicted Effect

probably benign
Transcript: ENSMUST00000172233

SMART Domains

Protein: ENSMUSP00000129156
Gene: ENSMUSG00000035086

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139669

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,423,472 (GRCm39)	L224Q	probably damaging	Het
Abcc5	A	G	16: 20,211,529 (GRCm39)	M478T	probably benign	Het
Acot10	T	C	15: 20,665,871 (GRCm39)	D290G	possibly damaging	Het
Actr3b	A	G	5: 26,036,688 (GRCm39)	Q167R	probably benign	Het
Actr8	C	T	14: 29,713,674 (GRCm39)	R565*	probably null	Het
Adcy7	C	T	8: 89,052,358 (GRCm39)		probably null	Het
Adgrb3	C	T	1: 25,459,728 (GRCm39)	V576I	probably benign	Het
Adgrv1	T	A	13: 81,607,882 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,672,898 (GRCm39)		probably null	Het
Ak2	A	G	4: 128,892,976 (GRCm39)	D45G	probably damaging	Het
Ak9	C	G	10: 41,298,403 (GRCm39)	Q1489E	unknown	Het
Ak9	A	T	10: 41,298,404 (GRCm39)	Q1489L	unknown	Het
Akap12	C	A	10: 4,306,268 (GRCm39)	S1026Y	possibly damaging	Het
Ankhd1	T	G	18: 36,744,862 (GRCm39)	S601A	possibly damaging	Het
Apba2	A	T	7: 64,389,628 (GRCm39)	E508V	probably damaging	Het
Arhgap18	A	G	10: 26,722,031 (GRCm39)	M1V	probably null	Het
Arhgef10l	G	A	4: 140,270,073 (GRCm39)	T865M	possibly damaging	Het
Bdh1	T	A	16: 31,268,715 (GRCm39)	V150D	probably damaging	Het
C2cd4d	A	G	3: 94,271,226 (GRCm39)	D164G	probably benign	Het
Cacna1e	C	A	1: 154,362,316 (GRCm39)	V424F	possibly damaging	Het
Capn7	C	A	14: 31,085,560 (GRCm39)	T511K	probably benign	Het
Cdc5l	G	A	17: 45,718,943 (GRCm39)	P558S	probably benign	Het
Cep170	T	A	1: 176,609,975 (GRCm39)	H112L	probably damaging	Het
Cfap61	C	T	2: 145,789,053 (GRCm39)	T19M	probably benign	Het
Clca3a1	A	G	3: 144,463,821 (GRCm39)	V152A	probably benign	Het
Cnot10	G	T	9: 114,461,791 (GRCm39)	T24K	probably damaging	Het
Cntnap5b	T	A	1: 100,306,800 (GRCm39)	I839N	possibly damaging	Het
Cyp4f13	A	T	17: 33,148,847 (GRCm39)	D299E	probably damaging	Het
Dclk1	A	G	3: 55,395,232 (GRCm39)	E128G	probably damaging	Het
Dennd1b	T	C	1: 139,061,413 (GRCm39)	I365T	probably damaging	Het
Dgcr8	T	C	16: 18,102,274 (GRCm39)	T3A	probably damaging	Het
Dld	A	C	12: 31,394,847 (GRCm39)	I58S	probably damaging	Het
Dlg5	T	A	14: 24,240,506 (GRCm39)	R248S	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Faf1	C	T	4: 109,719,012 (GRCm39)	L373F	probably damaging	Het
Fam171b	C	T	2: 83,707,042 (GRCm39)	T304I	probably benign	Het
Fcgrt	A	T	7: 44,751,622 (GRCm39)		probably null	Het
Gimap9	T	C	6: 48,655,285 (GRCm39)	W291R	probably damaging	Het
Gm4847	G	A	1: 166,457,892 (GRCm39)	A487V	probably damaging	Het
Gria4	T	A	9: 4,420,199 (GRCm39)	I888F	probably benign	Het
Hapln2	T	A	3: 87,930,600 (GRCm39)	I224F	probably damaging	Het
Herc1	T	G	9: 66,283,663 (GRCm39)	L332R	possibly damaging	Het
Hmgxb4	T	C	8: 75,749,927 (GRCm39)	V481A	probably benign	Het
Htr1d	T	C	4: 136,170,109 (GRCm39)	S113P	probably damaging	Het
Ift81	T	C	5: 122,689,163 (GRCm39)	Q651R	probably benign	Het
Il17ra	T	C	6: 120,452,234 (GRCm39)	S199P	probably damaging	Het
Itih2	T	C	2: 10,103,318 (GRCm39)	N723S	probably benign	Het
Jak1	A	T	4: 101,032,325 (GRCm39)	V427E	probably damaging	Het
Krt23	C	T	11: 99,376,584 (GRCm39)	D191N	probably damaging	Het
Lingo1	T	A	9: 56,526,934 (GRCm39)	I552F	possibly damaging	Het
Llgl2	G	A	11: 115,737,812 (GRCm39)	R199Q	probably benign	Het
Lrrc37a	G	T	11: 103,392,042 (GRCm39)	Q1128K	possibly damaging	Het
Lrrc74a	T	C	12: 86,783,263 (GRCm39)	V36A	probably benign	Het
M1ap	T	A	6: 82,980,877 (GRCm39)	D254E	possibly damaging	Het
Mal2	C	T	15: 54,434,794 (GRCm39)		probably benign	Het
Mbnl2	A	G	14: 120,622,833 (GRCm39)	T124A	probably benign	Het
Nfatc1	A	G	18: 80,755,885 (GRCm39)	S33P	probably benign	Het
Nfkbid	A	G	7: 30,125,162 (GRCm39)	N253S	probably damaging	Het
Ngfr	T	A	11: 95,465,267 (GRCm39)	I194F	probably benign	Het
Nhsl1	A	G	10: 18,345,789 (GRCm39)		probably benign	Het
Nol9	T	A	4: 152,125,691 (GRCm39)	I214N	possibly damaging	Het
Or1o3	A	G	17: 37,573,635 (GRCm39)	S307P	probably benign	Het
Or5p56	T	C	7: 107,590,307 (GRCm39)	L245P	probably damaging	Het
Or8k3	T	A	2: 86,058,578 (GRCm39)	T246S	possibly damaging	Het
Pax3	C	T	1: 78,169,186 (GRCm39)	S160N	possibly damaging	Het
Pde3b	A	G	7: 114,122,267 (GRCm39)		probably null	Het
Pde5a	A	C	3: 122,522,956 (GRCm39)	E21A	probably benign	Het
Plcxd1	A	G	5: 110,250,469 (GRCm39)	E270G	probably damaging	Het
Plxna1	T	A	6: 89,333,586 (GRCm39)	K348*	probably null	Het
Pramel34	A	T	5: 93,785,937 (GRCm39)	N114K	probably benign	Het
Prb1b	T	A	6: 132,289,692 (GRCm39)	H44L	unknown	Het
Psg21	G	T	7: 18,388,926 (GRCm39)	D55E	possibly damaging	Het
Rasa1	C	A	13: 85,381,814 (GRCm39)	A493S	probably benign	Het
Raver2	A	G	4: 100,990,814 (GRCm39)	I396V	probably benign	Het
Rpa2	A	G	4: 132,502,331 (GRCm39)	K138E	probably benign	Het
Rsad1	T	C	11: 94,439,062 (GRCm39)	N133D	probably damaging	Het
Rusc1	T	C	3: 88,999,188 (GRCm39)	D198G	probably benign	Het
Samsn1	A	T	16: 75,667,803 (GRCm39)	Y258N	probably damaging	Het
Scap	A	G	9: 110,203,135 (GRCm39)	N270D	probably benign	Het
Shisal2a	A	T	4: 108,225,052 (GRCm39)	I170N	probably damaging	Het
Smpd4	T	C	16: 17,449,877 (GRCm39)	Y200H	probably damaging	Het
Steap2	A	G	5: 5,725,881 (GRCm39)	V381A	probably damaging	Het
Syk	C	T	13: 52,765,089 (GRCm39)	T72I	probably damaging	Het
Tbc1d14	T	C	5: 36,729,228 (GRCm39)	D66G	possibly damaging	Het
Tcp11	A	G	17: 28,290,691 (GRCm39)	Y223H	probably benign	Het
Timm9	A	G	12: 71,173,124 (GRCm39)	S8P	probably benign	Het
Tmpo	T	C	10: 91,000,069 (GRCm39)		probably null	Het
Vezf1	T	C	11: 87,967,012 (GRCm39)	M81T	probably benign	Het
Vipr1	T	A	9: 121,493,719 (GRCm39)	W257R	probably damaging	Het
Vmn1r237	G	A	17: 21,534,556 (GRCm39)	G93D	probably damaging	Het
Vmn2r6	A	G	3: 64,445,424 (GRCm39)	V678A	probably benign	Het
Vmn2r85	T	C	10: 130,261,330 (GRCm39)	T336A	possibly damaging	Het
Xpnpep3	C	A	15: 81,322,300 (GRCm39)	D296E	probably benign	Het
Zfp35	C	A	18: 24,137,118 (GRCm39)	H487Q	probably benign	Het
Zfp606	A	T	7: 12,227,928 (GRCm39)	Y625F	probably damaging	Het
Zfp677	A	G	17: 21,617,530 (GRCm39)	T196A	possibly damaging	Het
Zmym1	T	C	4: 126,941,677 (GRCm39)	I904V	probably damaging	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
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'- TCTGCTCTAGGATCTCCAAACAG -3'
(R):5'- GAGACTCAAGGCAAGTTGGTC -3'

Sequencing Primer
(F):5'- TCTAGGATCTCCAAACAGCGTCTG -3'
(R):5'- GACTCAAGGCAAGTTGGTCTAATTTC -3'

Posted On

2018-02-27