Mutagenetix > Incidental Mutation

Incidental Mutation 'R5319:Becn1'

406005

Institutional Source

Beutler Lab

Gene Symbol

Becn1

Ensembl Gene

ENSMUSG00000035086

Gene Name

beclin 1, autophagy related

Synonyms

Atg6

MMRRC Submission

042902-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101179084-101193112 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 101179629 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129156 (fasta)

Gene Model

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

AlphaFold

O88597

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

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 benign
Transcript: ENSMUST00000130916

SMART Domains

Protein: ENSMUSP00000119369
Gene: ENSMUSG00000035086

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: ENSMUST00000139997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153438

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135805

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136535

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140286

Predicted Effect

probably benign
Transcript: ENSMUST00000167667

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

probably benign
Transcript: ENSMUST00000167818

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (69/73)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	C	5: 146,441,506 (GRCm39)	S218P	probably benign	Het
Ahctf1	A	C	1: 179,596,615 (GRCm39)	S121A	probably damaging	Het
Anpep	C	T	7: 79,491,479 (GRCm39)	R174H	probably benign	Het
Arhgef18	T	C	8: 3,435,010 (GRCm39)		probably null	Het
Cabin1	T	C	10: 75,561,549 (GRCm39)	Y984C	probably damaging	Het
Cacna2d4	G	T	6: 119,324,213 (GRCm39)		probably null	Het
Ccdc14	T	G	16: 34,543,542 (GRCm39)	N633K	probably damaging	Het
Cdk5rap1	T	A	2: 154,177,489 (GRCm39)	T577S	possibly damaging	Het
Clca4b	T	C	3: 144,630,940 (GRCm39)	R307G	possibly damaging	Het
Colgalt2	A	G	1: 152,360,620 (GRCm39)	Q219R	possibly damaging	Het
Cops3	A	T	11: 59,718,762 (GRCm39)	D177E	possibly damaging	Het
Cyp2d9	T	C	15: 82,338,256 (GRCm39)	Y127H	probably damaging	Het
Dnajc11	A	G	4: 152,052,983 (GRCm39)	T98A	probably damaging	Het
Dst	T	C	1: 34,265,058 (GRCm39)	S4757P	possibly damaging	Het
Dvl2	C	T	11: 69,898,957 (GRCm39)	T448I	possibly damaging	Het
E230016K23Rik	T	G	11: 83,512,496 (GRCm39)		noncoding transcript	Het
Efl1	G	T	7: 82,323,714 (GRCm39)	D219Y	probably damaging	Het
Epha10	T	A	4: 124,807,793 (GRCm39)		probably benign	Het
Fbxw22	T	A	9: 109,213,015 (GRCm39)	T311S	possibly damaging	Het
Folr1	T	A	7: 101,513,184 (GRCm39)	D37V	probably damaging	Het
Fshb	T	A	2: 106,889,224 (GRCm39)	I27F	probably damaging	Het
Gm8521	A	T	Y: 3,859,335 (GRCm39)		noncoding transcript	Het
Gpr45	T	C	1: 43,071,998 (GRCm39)	S214P	probably damaging	Het
Hgf	G	A	5: 16,771,860 (GRCm39)		probably null	Het
Hs6st1	T	C	1: 36,143,259 (GRCm39)	V398A	probably benign	Het
Ighmbp2	A	G	19: 3,321,646 (GRCm39)	V371A	probably damaging	Het
Kif18a	T	A	2: 109,148,370 (GRCm39)	N621K	probably benign	Het
Lama5	A	G	2: 179,822,911 (GRCm39)	F2785S	probably damaging	Het
Lcor	G	A	19: 41,574,791 (GRCm39)	G1182D	probably damaging	Het
Lrriq3	T	C	3: 154,835,108 (GRCm39)	I281T	possibly damaging	Het
Macf1	C	T	4: 123,367,229 (GRCm39)	A2511T	probably damaging	Het
Mark4	T	C	7: 19,170,886 (GRCm39)	D328G	possibly damaging	Het
Myo1c	G	A	11: 75,552,852 (GRCm39)	E434K	possibly damaging	Het
Nfe2l1	A	G	11: 96,710,205 (GRCm39)	S387P	probably damaging	Het
Nr1d2	A	G	14: 18,215,197 (GRCm38)	S272P	probably benign	Het
Nsrp1	T	C	11: 76,940,293 (GRCm39)	H104R	probably damaging	Het
Odf1	T	A	15: 38,219,863 (GRCm39)	S64T	probably benign	Het
Or2aa1	A	T	11: 59,480,477 (GRCm39)	V146E	probably damaging	Het
Or4c106	T	A	2: 88,683,122 (GRCm39)	I276K	probably damaging	Het
Or7g25	C	T	9: 19,160,329 (GRCm39)	R122H	possibly damaging	Het
Pde4b	C	A	4: 102,278,985 (GRCm39)		probably benign	Het
Phox2a	C	T	7: 101,470,057 (GRCm39)	T96M	probably damaging	Het
Plg	A	G	17: 12,622,114 (GRCm39)	E478G	possibly damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppp1r12c	T	A	7: 4,486,983 (GRCm39)	T517S	probably benign	Het
Ptk7	C	T	17: 46,883,603 (GRCm39)	V821M	probably damaging	Het
Ptpn6	C	T	6: 124,709,913 (GRCm39)	V2M	probably benign	Het
Rgl2	T	C	17: 34,152,529 (GRCm39)	V380A	probably benign	Het
Rpl13a-ps1	A	G	19: 50,018,591 (GRCm39)	V195A	possibly damaging	Het
Rsph1	C	A	17: 31,492,351 (GRCm39)	V72F	probably benign	Het
Sh3bp4	T	C	1: 89,073,072 (GRCm39)	V640A	probably benign	Het
Simc1	T	A	13: 54,672,795 (GRCm39)	V381E	probably benign	Het
Slc15a3	A	T	19: 10,833,296 (GRCm39)	T438S	probably damaging	Het
Slc5a4b	C	T	10: 75,898,233 (GRCm39)	V494M	probably benign	Het
Sos2	C	A	12: 69,674,058 (GRCm39)	R335L	probably benign	Het
Trp53i13	A	T	11: 77,399,566 (GRCm39)	N254K	probably damaging	Het
Trpc6	A	G	9: 8,609,922 (GRCm39)	Y130C	probably damaging	Het
Trpv1	A	G	11: 73,130,415 (GRCm39)	I174V	probably damaging	Het
Tsnax	T	A	8: 125,742,458 (GRCm39)	D62E	probably damaging	Het
Vezt	T	A	10: 93,806,193 (GRCm39)	E739D	probably benign	Het
Vmn1r59	T	A	7: 5,457,209 (GRCm39)	I184F	probably damaging	Het
Yeats2	T	C	16: 20,005,175 (GRCm39)	V385A	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
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'- GCATGGGGCTGAGTCAAAAC -3'
(R):5'- TGAGCTCTGCTATGTCCACCTG -3'

Sequencing Primer
(F):5'- CAAAACTATGGCAGGGTTCTTTGC -3'
(R):5'- TGCTATGTCCACCTGCAGGATG -3'

Posted On

2016-07-22