Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02434:Atg2b'

293224

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: 0.202) question?

Stock #

IGL02434

Quality Score

Status

Chromosome

Chromosomal Location

105582395-105651470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105605466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 339 (V339I)

Gene Model

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

AlphaFold

Q80XK6

Predicted Effect

probably benign
Transcript: ENSMUST00000041055
AA Change: V1500I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000037441
Gene: ENSMUSG00000041341
AA Change: V1500I

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
AA Change: V339I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	C	A	15: 72,992,930 (GRCm39)	G525V	probably damaging	Het
Agxt2	T	C	15: 10,358,686 (GRCm39)	S2P	possibly damaging	Het
Btc	T	A	5: 91,510,186 (GRCm39)	I136F	probably damaging	Het
Cemip	A	T	7: 83,604,492 (GRCm39)	M850K	probably damaging	Het
Cfap54	T	A	10: 92,902,616 (GRCm39)	T179S	probably benign	Het
Chd7	T	C	4: 8,752,145 (GRCm39)	L214P	probably benign	Het
Garnl3	T	A	2: 32,944,217 (GRCm39)	N114I	probably damaging	Het
Gm10010	G	T	6: 128,177,433 (GRCm39)		noncoding transcript	Het
Gstcd	A	G	3: 132,701,963 (GRCm39)		probably benign	Het
Htr2b	A	G	1: 86,038,492 (GRCm39)	V38A	probably benign	Het
Hyal4	G	A	6: 24,763,857 (GRCm39)	W339*	probably null	Het
Ifnb1	A	G	4: 88,440,755 (GRCm39)	V86A	probably damaging	Het
Itpr1	A	G	6: 108,466,883 (GRCm39)		probably null	Het
Jag1	T	C	2: 136,929,075 (GRCm39)	S794G	probably benign	Het
Kdm5c	T	A	X: 151,016,558 (GRCm39)	M1K	probably null	Het
Lct	A	G	1: 128,231,527 (GRCm39)	V774A	probably damaging	Het
Man2a2	G	A	7: 80,009,388 (GRCm39)	A822V	probably damaging	Het
Med14	A	T	X: 12,612,063 (GRCm39)	D371E	possibly damaging	Het
Nrcam	A	G	12: 44,637,026 (GRCm39)		probably benign	Het
Or14j10	T	A	17: 37,935,467 (GRCm39)	N20Y	possibly damaging	Het
Or52e18	A	T	7: 104,609,279 (GRCm39)	M220K	probably benign	Het
Or52e18	A	T	7: 104,609,281 (GRCm39)	Y219*	probably null	Het
Pitpnm1	C	T	19: 4,153,377 (GRCm39)	R178W	probably benign	Het
Prb1b	T	A	6: 132,289,339 (GRCm39)	R162W	unknown	Het
Prkcg	A	G	7: 3,367,406 (GRCm39)	I324V	probably benign	Het
Prr30	A	T	14: 101,435,804 (GRCm39)	C253S	possibly damaging	Het
Ptgis	A	T	2: 167,082,262 (GRCm39)		probably null	Het
Rab11fip3	C	T	17: 26,287,809 (GRCm39)	A115T	possibly damaging	Het
Reps2	C	T	X: 161,309,253 (GRCm39)		probably null	Het
Rev3l	A	G	10: 39,698,587 (GRCm39)	D1028G	probably damaging	Het
Rsbn1l	T	C	5: 21,124,732 (GRCm39)	R357G	probably damaging	Het
Scn5a	A	G	9: 119,362,859 (GRCm39)	L587P	possibly damaging	Het
Tanc2	C	T	11: 105,670,868 (GRCm39)	T155I	probably benign	Het
Tfb2m	A	G	1: 179,359,700 (GRCm39)		probably benign	Het
Tfpi	A	G	2: 84,282,892 (GRCm39)		probably benign	Het
Tg	T	C	15: 66,636,191 (GRCm39)	S593P	probably damaging	Het
Unc13c	T	C	9: 73,839,910 (GRCm39)	S314G	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
IGL02260:Atg2b	APN	12	105,602,699 (GRCm39)	splice site	probably benign
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
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