Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02260:Atg2b'

286730

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atg2b

Ensembl Gene

ENSMUSG00000041341

Gene Name

autophagy related 2B

Synonyms

C030004M05Rik, 2410024A21Rik, C630028L02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

IGL02260

Quality Score

Status

Chromosome

Chromosomal Location

105582395-105651470 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 105602699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041055]

AlphaFold

Q80XK6

Predicted Effect

probably benign
Transcript: ENSMUST00000041055

SMART Domains

Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341

Domain	Start	End	E-Value	Type
Pfam:Chorein_N	11	127	3.5e-19	PFAM
low complexity region	286	298	N/A	INTRINSIC
low complexity region	409	428	N/A	INTRINSIC
low complexity region	864	870	N/A	INTRINSIC
low complexity region	893	904	N/A	INTRINSIC
low complexity region	1722	1733	N/A	INTRINSIC
Pfam:ATG_C	1976	2071	1.4e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000221015

Coding Region Coverage

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 required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	C	T	17: 57,754,891 (GRCm39)	A663V	probably benign	Het
B4galt6	T	C	18: 20,833,804 (GRCm39)	I194V	probably benign	Het
Caprin1	T	C	2: 103,609,714 (GRCm39)	Y188C	probably damaging	Het
Ccdc85a	A	G	11: 28,526,672 (GRCm39)	F284S	possibly damaging	Het
Ccdc88b	A	T	19: 6,832,717 (GRCm39)		probably benign	Het
Cox18	C	T	5: 90,365,384 (GRCm39)	V272I	possibly damaging	Het
Dars1	A	T	1: 128,299,898 (GRCm39)	M362K	probably benign	Het
Ddi1	A	T	9: 6,265,760 (GRCm39)	M203K	probably benign	Het
Dlg4	G	A	11: 69,933,093 (GRCm39)	G500R	probably damaging	Het
Ebf3	G	A	7: 136,807,919 (GRCm39)	P375S	probably damaging	Het
Eif5b	T	A	1: 38,084,537 (GRCm39)	L842M	possibly damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gm5581	T	C	6: 131,144,909 (GRCm39)		noncoding transcript	Het
Mapk10	A	T	5: 103,186,534 (GRCm39)	D29E	probably benign	Het
Mib2	C	T	4: 155,745,628 (GRCm39)	R61H	probably damaging	Het
Mki67	A	G	7: 135,303,697 (GRCm39)	S724P	probably benign	Het
Mtor	T	C	4: 148,622,758 (GRCm39)	I1946T	probably damaging	Het
Myh14	A	G	7: 44,260,995 (GRCm39)	L1873P	probably damaging	Het
Myom1	C	T	17: 71,415,310 (GRCm39)	Q1226*	probably null	Het
Neb	A	G	2: 52,095,668 (GRCm39)	L4858P	probably damaging	Het
Or51f5	A	T	7: 102,424,114 (GRCm39)	I128F	probably damaging	Het
Or5m9b	C	A	2: 85,905,816 (GRCm39)	T244K	possibly damaging	Het
Or5p76	T	C	7: 108,122,492 (GRCm39)	I222V	probably benign	Het
Pcdhb14	C	T	18: 37,583,086 (GRCm39)	H731Y	probably benign	Het
Prdm16	T	C	4: 154,412,744 (GRCm39)	N1087S	probably benign	Het
Prdm2	C	T	4: 142,861,157 (GRCm39)	G711D	probably damaging	Het
Proser1	G	A	3: 53,386,365 (GRCm39)	G749D	probably damaging	Het
Ptch1	A	T	13: 63,713,166 (GRCm39)		probably benign	Het
Pus10	A	T	11: 23,657,548 (GRCm39)	K233*	probably null	Het
Rasa2	A	G	9: 96,426,372 (GRCm39)	Y825H	probably benign	Het
Tbcd	T	C	11: 121,494,104 (GRCm39)	F969S	probably damaging	Het
Tbp	T	A	17: 15,724,878 (GRCm39)	S133T	probably damaging	Het
Tnks	C	T	8: 35,310,137 (GRCm39)	G1062D	probably damaging	Het
Tnrc6b	T	A	15: 80,764,372 (GRCm39)	S625T	probably damaging	Het
Triobp	T	C	15: 78,850,562 (GRCm39)	S239P	probably benign	Het
Ubiad1	T	C	4: 148,528,564 (GRCm39)	D115G	probably benign	Het
Uckl1	A	G	2: 181,211,381 (GRCm39)	S483P	probably damaging	Het
Vill	A	G	9: 118,887,509 (GRCm39)	D91G	probably benign	Het
Wdr62	C	A	7: 29,970,207 (GRCm39)	C200F	probably damaging	Het
Zfp341	G	A	2: 154,483,969 (GRCm39)	C586Y	possibly damaging	Het
Zfp687	G	A	3: 94,918,575 (GRCm39)	T399I	possibly damaging	Het
Zp1	G	T	19: 10,894,078 (GRCm39)		probably benign	Het
Zzz3	T	A	3: 152,157,720 (GRCm39)	D263E	probably benign	Het

Other mutations in Atg2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00538:Atg2b	APN	12	105,611,175 (GRCm39)	missense	probably benign	0.20
IGL01326:Atg2b	APN	12	105,588,403 (GRCm39)	missense	probably damaging	1.00
IGL02063:Atg2b	APN	12	105,614,581 (GRCm39)	missense	possibly damaging	0.89
IGL02376:Atg2b	APN	12	105,611,727 (GRCm39)	missense	probably damaging	1.00
IGL02381:Atg2b	APN	12	105,614,607 (GRCm39)	missense	probably damaging	1.00
IGL02434:Atg2b	APN	12	105,605,466 (GRCm39)	missense	probably benign	0.00
IGL02534:Atg2b	APN	12	105,609,526 (GRCm39)	missense	probably damaging	1.00
IGL03011:Atg2b	APN	12	105,592,621 (GRCm39)	missense	probably damaging	0.98
IGL03173:Atg2b	APN	12	105,624,553 (GRCm39)	missense	possibly damaging	0.68
R6669_atg2b_067	UTSW	12	105,637,788 (GRCm39)	missense	possibly damaging	0.90
rail	UTSW	12	105,625,099 (GRCm39)	nonsense	probably null
Sora	UTSW	12	105,589,689 (GRCm39)	missense	probably benign	0.06
R0066:Atg2b	UTSW	12	105,614,708 (GRCm39)	missense	probably benign
R0066:Atg2b	UTSW	12	105,614,708 (GRCm39)	missense	probably benign
R0511:Atg2b	UTSW	12	105,583,412 (GRCm39)	missense	probably damaging	1.00
R0762:Atg2b	UTSW	12	105,641,229 (GRCm39)	missense	possibly damaging	0.56
R0786:Atg2b	UTSW	12	105,602,767 (GRCm39)	missense	probably benign	0.00
R1029:Atg2b	UTSW	12	105,602,032 (GRCm39)	missense	probably damaging	0.96
R1529:Atg2b	UTSW	12	105,627,392 (GRCm39)	missense	probably benign
R1563:Atg2b	UTSW	12	105,589,747 (GRCm39)	missense	probably damaging	0.99
R1746:Atg2b	UTSW	12	105,635,588 (GRCm39)	missense	possibly damaging	0.79
R1887:Atg2b	UTSW	12	105,620,351 (GRCm39)	missense	probably benign	0.01
R1956:Atg2b	UTSW	12	105,635,677 (GRCm39)	missense	probably damaging	1.00
R1957:Atg2b	UTSW	12	105,635,677 (GRCm39)	missense	probably damaging	1.00
R2272:Atg2b	UTSW	12	105,604,267 (GRCm39)	missense	probably benign	0.00
R2877:Atg2b	UTSW	12	105,630,268 (GRCm39)	nonsense	probably null
R2878:Atg2b	UTSW	12	105,630,268 (GRCm39)	nonsense	probably null
R4798:Atg2b	UTSW	12	105,618,888 (GRCm39)	missense	probably benign	0.37
R4836:Atg2b	UTSW	12	105,613,073 (GRCm39)	missense	probably benign
R5007:Atg2b	UTSW	12	105,610,135 (GRCm39)	splice site	probably null
R5042:Atg2b	UTSW	12	105,587,521 (GRCm39)	missense	probably benign	0.01
R5134:Atg2b	UTSW	12	105,641,209 (GRCm39)	missense	probably damaging	0.96
R5212:Atg2b	UTSW	12	105,613,055 (GRCm39)	missense	probably benign	0.00
R5250:Atg2b	UTSW	12	105,602,024 (GRCm39)	missense	probably damaging	1.00
R5307:Atg2b	UTSW	12	105,624,588 (GRCm39)	missense	probably benign	0.17
R5342:Atg2b	UTSW	12	105,625,175 (GRCm39)	missense	possibly damaging	0.90
R5583:Atg2b	UTSW	12	105,615,414 (GRCm39)	missense	possibly damaging	0.94
R5656:Atg2b	UTSW	12	105,587,587 (GRCm39)	missense	probably benign	0.00
R5660:Atg2b	UTSW	12	105,615,383 (GRCm39)	nonsense	probably null
R5903:Atg2b	UTSW	12	105,605,618 (GRCm39)	missense	possibly damaging	0.90
R6018:Atg2b	UTSW	12	105,627,430 (GRCm39)	missense	probably damaging	0.96
R6153:Atg2b	UTSW	12	105,589,741 (GRCm39)	missense	possibly damaging	0.80
R6326:Atg2b	UTSW	12	105,627,351 (GRCm39)	nonsense	probably null
R6584:Atg2b	UTSW	12	105,624,254 (GRCm39)	missense	probably damaging	1.00
R6593:Atg2b	UTSW	12	105,611,107 (GRCm39)	missense	probably damaging	1.00
R6669:Atg2b	UTSW	12	105,637,788 (GRCm39)	missense	possibly damaging	0.90
R6847:Atg2b	UTSW	12	105,602,047 (GRCm39)	missense	probably damaging	1.00
R7003:Atg2b	UTSW	12	105,620,508 (GRCm39)	missense	probably benign	0.01
R7193:Atg2b	UTSW	12	105,630,967 (GRCm39)	missense	probably damaging	1.00
R7387:Atg2b	UTSW	12	105,589,034 (GRCm39)	missense	probably damaging	1.00
R7432:Atg2b	UTSW	12	105,630,957 (GRCm39)	missense	probably benign	0.08
R7432:Atg2b	UTSW	12	105,627,463 (GRCm39)	missense	probably damaging	0.98
R7630:Atg2b	UTSW	12	105,613,213 (GRCm39)	critical splice acceptor site	probably null
R7634:Atg2b	UTSW	12	105,618,379 (GRCm39)	missense	probably damaging	1.00
R7645:Atg2b	UTSW	12	105,589,689 (GRCm39)	missense	probably benign	0.06
R7653:Atg2b	UTSW	12	105,602,731 (GRCm39)	missense	possibly damaging	0.68
R8157:Atg2b	UTSW	12	105,629,199 (GRCm39)	missense	probably damaging	1.00
R8222:Atg2b	UTSW	12	105,618,475 (GRCm39)	missense	possibly damaging	0.95
R8469:Atg2b	UTSW	12	105,604,170 (GRCm39)	missense	probably benign	0.00
R8708:Atg2b	UTSW	12	105,635,687 (GRCm39)	critical splice acceptor site	probably benign
R8784:Atg2b	UTSW	12	105,605,500 (GRCm39)	missense	probably damaging	1.00
R8975:Atg2b	UTSW	12	105,602,725 (GRCm39)	missense	probably damaging	1.00
R8988:Atg2b	UTSW	12	105,583,388 (GRCm39)	missense	probably damaging	0.97
R9071:Atg2b	UTSW	12	105,625,099 (GRCm39)	nonsense	probably null
R9269:Atg2b	UTSW	12	105,618,359 (GRCm39)	missense	probably damaging	1.00
R9355:Atg2b	UTSW	12	105,636,980 (GRCm39)	missense	possibly damaging	0.48
R9402:Atg2b	UTSW	12	105,614,682 (GRCm39)	missense	probably damaging	0.98
R9492:Atg2b	UTSW	12	105,624,549 (GRCm39)	missense	probably benign	0.06
R9709:Atg2b	UTSW	12	105,611,140 (GRCm39)	missense	probably damaging	1.00
R9717:Atg2b	UTSW	12	105,605,561 (GRCm39)	missense	probably benign
R9746:Atg2b	UTSW	12	105,630,197 (GRCm39)	missense	possibly damaging	0.84
X0018:Atg2b	UTSW	12	105,632,956 (GRCm39)	missense	possibly damaging	0.86
X0066:Atg2b	UTSW	12	105,613,044 (GRCm39)	missense	probably benign	0.12
Z1177:Atg2b	UTSW	12	105,602,023 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16