Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03349:Atg2a'

419630

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atg2a

Ensembl Gene

ENSMUSG00000024773

Gene Name

autophagy related 2A

Synonyms

1810013C15Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.400) question?

Stock #

IGL03349

Quality Score

Status

Chromosome

Chromosomal Location

6291698-6312365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6308054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1590 (V1590D)

Ref Sequence

ENSEMBL: ENSMUSP00000046412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045351]

AlphaFold

Q6P4T0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045351
AA Change: V1590D

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046412
Gene: ENSMUSG00000024773
AA Change: V1590D

Domain	Start	End	E-Value	Type
Pfam:Chorein_N	14	131	7.6e-20	PFAM
low complexity region	138	154	N/A	INTRINSIC
low complexity region	285	301	N/A	INTRINSIC
low complexity region	501	512	N/A	INTRINSIC
low complexity region	852	863	N/A	INTRINSIC
low complexity region	1069	1081	N/A	INTRINSIC
low complexity region	1429	1446	N/A	INTRINSIC
low complexity region	1761	1773	N/A	INTRINSIC
Pfam:ATG_C	1814	1908	2.2e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143053

Predicted Effect

unknown
Transcript: ENSMUST00000145600
AA Change: V1393D

SMART Domains

Protein: ENSMUSP00000114998
Gene: ENSMUSG00000024773
AA Change: V1393D

Domain	Start	End	E-Value	Type
low complexity region	87	103	N/A	INTRINSIC
low complexity region	303	314	N/A	INTRINSIC
low complexity region	654	665	N/A	INTRINSIC
low complexity region	871	883	N/A	INTRINSIC
low complexity region	1233	1250	N/A	INTRINSIC
low complexity region	1565	1577	N/A	INTRINSIC
Pfam:ATG_C	1618	1712	3.6e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151079

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,629,455 (GRCm39)	Y3648H	probably benign	Het
Akr1c20	T	A	13: 4,558,249 (GRCm39)	R172*	probably null	Het
Apba1	A	T	19: 23,894,939 (GRCm39)	E458D	probably benign	Het
Atp13a4	A	G	16: 29,275,489 (GRCm39)	S332P	probably benign	Het
Atp8b2	A	T	3: 89,865,124 (GRCm39)	F163I	probably damaging	Het
Azin2	A	T	4: 128,839,907 (GRCm39)	Y228*	probably null	Het
Cd109	C	T	9: 78,543,767 (GRCm39)	H104Y	probably benign	Het
Ces2a	G	T	8: 105,460,712 (GRCm39)	L3F	probably damaging	Het
Crebbp	A	G	16: 3,935,222 (GRCm39)	V889A	possibly damaging	Het
Crim1	A	T	17: 78,662,579 (GRCm39)	K801*	probably null	Het
Cxcr1	T	C	1: 74,231,687 (GRCm39)	T112A	possibly damaging	Het
Cyp1a2	A	G	9: 57,587,158 (GRCm39)	S378P	possibly damaging	Het
Cyp2c67	T	C	19: 39,632,128 (GRCm39)	Y80C	probably damaging	Het
Dennd4a	T	C	9: 64,796,256 (GRCm39)	W761R	probably damaging	Het
Dgki	C	T	6: 37,074,562 (GRCm39)		probably null	Het
Dnase1l3	T	C	14: 7,984,146 (GRCm38)	T89A	probably benign	Het
Dock4	C	A	12: 40,783,309 (GRCm39)	Q748K	probably benign	Het
Elmo3	A	G	8: 106,033,020 (GRCm39)	E68G	possibly damaging	Het
Fer1l4	C	A	2: 155,886,654 (GRCm39)	E692*	probably null	Het
Fkbp9	T	A	6: 56,826,703 (GRCm39)	M101K	probably damaging	Het
Grin1	C	A	2: 25,200,448 (GRCm39)	V225L	probably benign	Het
Gucy2d	T	C	7: 98,099,048 (GRCm39)	V288A	possibly damaging	Het
Heatr5b	C	A	17: 79,062,749 (GRCm39)	K1933N	probably benign	Het
Hsdl1	A	T	8: 120,292,436 (GRCm39)	S260T	probably benign	Het
Hspg2	T	C	4: 137,287,833 (GRCm39)		probably benign	Het
Ift172	A	T	5: 31,441,474 (GRCm39)	V220E	probably benign	Het
Igkv12-47	C	T	6: 69,727,850 (GRCm39)		noncoding transcript	Het
Ism1	C	T	2: 139,573,895 (GRCm39)	R82*	probably null	Het
Lrch3	A	G	16: 32,775,694 (GRCm39)	T187A	probably damaging	Het
Ltbr	T	A	6: 125,289,329 (GRCm39)	D160V	probably damaging	Het
Lypd11	T	A	7: 24,422,261 (GRCm39)	S163C	probably damaging	Het
Mark3	A	T	12: 111,594,684 (GRCm39)	K353I	probably benign	Het
Mrm3	A	T	11: 76,140,772 (GRCm39)	H260L	probably damaging	Het
Nckap1	T	C	2: 80,355,904 (GRCm39)	Q627R	probably benign	Het
Neb	T	A	2: 52,168,964 (GRCm39)	Y1857F	possibly damaging	Het
Ntsr1	A	G	2: 180,142,295 (GRCm39)	T29A	probably benign	Het
Ofcc1	C	T	13: 40,226,228 (GRCm39)	G768D	probably benign	Het
Or5k17	T	C	16: 58,746,323 (GRCm39)	M204V	probably benign	Het
Pde8b	T	C	13: 95,179,551 (GRCm39)		probably benign	Het
Pld4	A	T	12: 112,734,313 (GRCm39)	Q393L	probably benign	Het
Prss23	T	C	7: 89,159,065 (GRCm39)	I335V	probably benign	Het
Prune2	A	G	19: 17,100,710 (GRCm39)	I2071M	probably damaging	Het
Ptprz1	T	A	6: 23,000,331 (GRCm39)	V807E	probably damaging	Het
Rnf20	G	A	4: 49,655,936 (GRCm39)	A961T	probably damaging	Het
Slc25a24	A	G	3: 109,056,865 (GRCm39)	Q126R	possibly damaging	Het
Slc35e1	A	T	8: 73,237,696 (GRCm39)	Y382N	probably damaging	Het
Snrpn	C	T	7: 59,635,613 (GRCm39)	G129D	probably damaging	Het
Spag9	A	T	11: 93,984,335 (GRCm39)	N386I	possibly damaging	Het
Ssna1	T	C	2: 25,161,542 (GRCm39)	N102D	possibly damaging	Het
Tex21	A	T	12: 76,268,365 (GRCm39)	I139N	probably benign	Het
Trgc2	T	A	13: 19,489,346 (GRCm39)	T129S	probably benign	Het
Trim21	T	C	7: 102,212,484 (GRCm39)	T161A	probably benign	Het
Vmn2r82	T	A	10: 79,213,703 (GRCm39)	H96Q	probably benign	Het

Other mutations in Atg2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Atg2a	APN	19	6,304,629 (GRCm39)	missense	probably damaging	1.00
IGL01612:Atg2a	APN	19	6,302,514 (GRCm39)	missense	probably benign	0.03
IGL02105:Atg2a	APN	19	6,300,433 (GRCm39)	splice site	probably benign
IGL02151:Atg2a	APN	19	6,305,787 (GRCm39)	missense	possibly damaging	0.95
IGL02228:Atg2a	APN	19	6,296,830 (GRCm39)	missense	probably benign	0.29
IGL02329:Atg2a	APN	19	6,299,959 (GRCm39)	critical splice donor site	probably null
IGL02408:Atg2a	APN	19	6,291,858 (GRCm39)	nonsense	probably null
IGL02538:Atg2a	APN	19	6,307,658 (GRCm39)	missense	probably benign
IGL02830:Atg2a	APN	19	6,297,711 (GRCm39)	missense	probably benign	0.04
PIT4515001:Atg2a	UTSW	19	6,303,615 (GRCm39)	missense	probably damaging	1.00
R0099:Atg2a	UTSW	19	6,302,819 (GRCm39)	missense	probably damaging	0.97
R0212:Atg2a	UTSW	19	6,296,584 (GRCm39)	missense	probably damaging	1.00
R0365:Atg2a	UTSW	19	6,297,713 (GRCm39)	missense	possibly damaging	0.51
R0398:Atg2a	UTSW	19	6,296,608 (GRCm39)	missense	probably damaging	1.00
R0483:Atg2a	UTSW	19	6,306,632 (GRCm39)	missense	probably benign	0.01
R0483:Atg2a	UTSW	19	6,306,631 (GRCm39)	missense	probably damaging	0.98
R0494:Atg2a	UTSW	19	6,303,407 (GRCm39)	missense	probably damaging	1.00
R0511:Atg2a	UTSW	19	6,302,569 (GRCm39)	missense	possibly damaging	0.89
R0590:Atg2a	UTSW	19	6,295,037 (GRCm39)	unclassified	probably benign
R0592:Atg2a	UTSW	19	6,295,037 (GRCm39)	unclassified	probably benign
R0593:Atg2a	UTSW	19	6,295,037 (GRCm39)	unclassified	probably benign
R0630:Atg2a	UTSW	19	6,294,547 (GRCm39)	missense	probably damaging	0.99
R1306:Atg2a	UTSW	19	6,303,051 (GRCm39)	missense	probably benign	0.31
R1437:Atg2a	UTSW	19	6,300,646 (GRCm39)	missense	probably damaging	1.00
R1539:Atg2a	UTSW	19	6,296,801 (GRCm39)	splice site	probably null
R1774:Atg2a	UTSW	19	6,300,628 (GRCm39)	missense	probably benign	0.01
R1781:Atg2a	UTSW	19	6,306,243 (GRCm39)	missense	probably damaging	0.96
R1854:Atg2a	UTSW	19	6,302,461 (GRCm39)	missense	probably benign	0.11
R1884:Atg2a	UTSW	19	6,304,414 (GRCm39)	missense	probably damaging	1.00
R1899:Atg2a	UTSW	19	6,295,097 (GRCm39)	missense	probably damaging	1.00
R1935:Atg2a	UTSW	19	6,302,566 (GRCm39)	missense	probably damaging	1.00
R2020:Atg2a	UTSW	19	6,300,299 (GRCm39)	critical splice donor site	probably null
R2071:Atg2a	UTSW	19	6,307,488 (GRCm39)	missense	probably benign	0.00
R2513:Atg2a	UTSW	19	6,308,076 (GRCm39)	critical splice donor site	probably null
R3808:Atg2a	UTSW	19	6,302,846 (GRCm39)	missense	possibly damaging	0.71
R4065:Atg2a	UTSW	19	6,308,396 (GRCm39)	missense	probably damaging	1.00
R4109:Atg2a	UTSW	19	6,308,404 (GRCm39)	missense	possibly damaging	0.95
R4352:Atg2a	UTSW	19	6,307,487 (GRCm39)	missense	probably benign	0.04
R4440:Atg2a	UTSW	19	6,305,859 (GRCm39)	critical splice donor site	probably null
R4472:Atg2a	UTSW	19	6,308,985 (GRCm39)	missense	probably damaging	0.98
R4669:Atg2a	UTSW	19	6,309,017 (GRCm39)	critical splice donor site	probably null
R4878:Atg2a	UTSW	19	6,300,274 (GRCm39)	missense	probably damaging	1.00
R4926:Atg2a	UTSW	19	6,307,563 (GRCm39)	missense	probably damaging	0.96
R5237:Atg2a	UTSW	19	6,296,844 (GRCm39)	missense	probably benign
R5350:Atg2a	UTSW	19	6,301,368 (GRCm39)	missense	probably damaging	0.99
R5507:Atg2a	UTSW	19	6,295,100 (GRCm39)	missense	possibly damaging	0.94
R5732:Atg2a	UTSW	19	6,307,490 (GRCm39)	missense	probably damaging	1.00
R5784:Atg2a	UTSW	19	6,311,535 (GRCm39)	missense	probably damaging	1.00
R5960:Atg2a	UTSW	19	6,304,390 (GRCm39)	missense	probably damaging	1.00
R5985:Atg2a	UTSW	19	6,304,667 (GRCm39)	missense	probably damaging	1.00
R6175:Atg2a	UTSW	19	6,291,759 (GRCm39)	unclassified	probably benign
R6572:Atg2a	UTSW	19	6,304,695 (GRCm39)	missense	probably damaging	0.98
R6878:Atg2a	UTSW	19	6,300,208 (GRCm39)	missense	probably damaging	0.99
R6879:Atg2a	UTSW	19	6,301,882 (GRCm39)	missense	possibly damaging	0.70
R6983:Atg2a	UTSW	19	6,310,070 (GRCm39)	missense	probably damaging	0.99
R7024:Atg2a	UTSW	19	6,300,249 (GRCm39)	missense	possibly damaging	0.88
R7217:Atg2a	UTSW	19	6,303,471 (GRCm39)	critical splice donor site	probably null
R7384:Atg2a	UTSW	19	6,311,707 (GRCm39)	missense	probably damaging	1.00
R7387:Atg2a	UTSW	19	6,305,198 (GRCm39)	missense	possibly damaging	0.79
R7425:Atg2a	UTSW	19	6,305,682 (GRCm39)	missense	probably benign	0.02
R7512:Atg2a	UTSW	19	6,310,106 (GRCm39)	missense	probably damaging	1.00
R7658:Atg2a	UTSW	19	6,301,293 (GRCm39)	missense	probably damaging	1.00
R7893:Atg2a	UTSW	19	6,301,326 (GRCm39)	missense	probably damaging	1.00
R8062:Atg2a	UTSW	19	6,302,609 (GRCm39)	critical splice donor site	probably null
R8258:Atg2a	UTSW	19	6,299,859 (GRCm39)	missense	probably damaging	0.98
R8259:Atg2a	UTSW	19	6,299,859 (GRCm39)	missense	probably damaging	0.98
R8350:Atg2a	UTSW	19	6,296,841 (GRCm39)	missense	probably benign	0.03
R8412:Atg2a	UTSW	19	6,294,554 (GRCm39)	missense	probably damaging	1.00
R8450:Atg2a	UTSW	19	6,296,841 (GRCm39)	missense	probably benign	0.03
R8474:Atg2a	UTSW	19	6,301,433 (GRCm39)	critical splice donor site	probably null
R8501:Atg2a	UTSW	19	6,304,420 (GRCm39)	missense	probably damaging	1.00
R8738:Atg2a	UTSW	19	6,306,674 (GRCm39)	missense	probably benign	0.00
R8786:Atg2a	UTSW	19	6,294,460 (GRCm39)	missense	probably damaging	1.00
R8810:Atg2a	UTSW	19	6,300,651 (GRCm39)	missense	probably benign	0.01
R8898:Atg2a	UTSW	19	6,306,721 (GRCm39)	splice site	probably benign
R9016:Atg2a	UTSW	19	6,300,111 (GRCm39)	missense	probably damaging	1.00
R9111:Atg2a	UTSW	19	6,311,534 (GRCm39)	missense	probably damaging	1.00
R9177:Atg2a	UTSW	19	6,291,905 (GRCm39)	missense	probably damaging	1.00
R9184:Atg2a	UTSW	19	6,291,887 (GRCm39)	missense	probably damaging	1.00
R9268:Atg2a	UTSW	19	6,291,905 (GRCm39)	missense	probably damaging	1.00
R9496:Atg2a	UTSW	19	6,310,022 (GRCm39)	missense	possibly damaging	0.63
R9570:Atg2a	UTSW	19	6,305,749 (GRCm39)	missense	probably benign	0.03
R9642:Atg2a	UTSW	19	6,300,198 (GRCm39)	nonsense	probably null
X0065:Atg2a	UTSW	19	6,308,226 (GRCm39)	missense	possibly damaging	0.89

Posted On

2016-08-02