Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02151:Atg2a'

282009

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: 0.383) question?

Stock #

IGL02151

Quality Score

Status

Chromosome

Chromosomal Location

6291698-6312365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6305787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1132 (E1132G)

Gene Model

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

AlphaFold

Q6P4T0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045351
AA Change: E1329G

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000046412
Gene: ENSMUSG00000024773
AA Change: E1329G

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: ENSMUST00000135018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143053

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145600
AA Change: E1132G

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114998
Gene: ENSMUSG00000024773
AA Change: E1132G

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	G	T	5: 50,136,484 (GRCm39)	T667N	probably benign	Het
Aff4	T	C	11: 53,290,633 (GRCm39)	I531T	probably benign	Het
Akap9	C	T	5: 4,082,728 (GRCm39)	Q1951*	probably null	Het
Arhgef10	C	T	8: 14,978,889 (GRCm39)	T52M	possibly damaging	Het
AW551984	A	C	9: 39,504,241 (GRCm39)	I575S	probably benign	Het
Cfap299	C	T	5: 98,477,301 (GRCm39)	T24M	probably damaging	Het
Cog7	T	C	7: 121,543,031 (GRCm39)	E460G	probably damaging	Het
Ctse	A	G	1: 131,600,273 (GRCm39)	I341V	probably benign	Het
Dcpp1	A	T	17: 24,101,568 (GRCm39)	I106L	possibly damaging	Het
Dcxr	T	A	11: 120,616,809 (GRCm39)	M158L	probably benign	Het
Dnah11	A	T	12: 118,023,623 (GRCm39)		probably benign	Het
Dnah7a	T	A	1: 53,512,023 (GRCm39)	I3013F	probably benign	Het
Dnah8	A	G	17: 30,867,391 (GRCm39)	D281G	possibly damaging	Het
Dpysl3	G	A	18: 43,491,365 (GRCm39)	H136Y	probably damaging	Het
Eaf1	C	T	14: 31,219,744 (GRCm39)	T61M	probably damaging	Het
Fmnl1	A	G	11: 103,083,598 (GRCm39)	T441A	probably benign	Het
Hmgcll1	C	T	9: 75,988,720 (GRCm39)	P197L	probably benign	Het
Kdm4b	T	C	17: 56,703,234 (GRCm39)	V643A	probably benign	Het
Lrch2	A	G	X: 146,336,716 (GRCm39)	F111L	possibly damaging	Het
Macf1	A	T	4: 123,265,559 (GRCm39)		probably benign	Het
Mfsd4b2	T	C	10: 39,797,687 (GRCm39)	N223D	probably damaging	Het
Mug1	G	A	6: 121,861,649 (GRCm39)		probably null	Het
Nek7	A	T	1: 138,414,838 (GRCm39)	L270Q	probably damaging	Het
Nexn	T	A	3: 151,953,881 (GRCm39)	D127V	probably damaging	Het
Nxf3	A	G	X: 134,980,322 (GRCm39)	F130S	probably damaging	Het
Or11a4	T	A	17: 37,536,057 (GRCm39)	F14I	probably damaging	Het
Or52ac1	A	G	7: 104,245,741 (GRCm39)	S216P	probably damaging	Het
Pcdhb16	G	A	18: 37,611,411 (GRCm39)	V124I	possibly damaging	Het
Podxl	T	C	6: 31,501,394 (GRCm39)	D387G	possibly damaging	Het
Prp2rt	T	A	13: 97,235,682 (GRCm39)	T22S	probably null	Het
Rab3d	C	A	9: 21,827,020 (GRCm39)	R70M	probably damaging	Het
Ripk2	A	T	4: 16,139,240 (GRCm39)	M219K	possibly damaging	Het
Rnf146	A	G	10: 29,223,349 (GRCm39)	V179A	probably damaging	Het
Robo1	G	T	16: 72,786,504 (GRCm39)	V839L	probably benign	Het
Rttn	T	A	18: 89,038,329 (GRCm39)	N808K	probably damaging	Het
Slc12a3	T	G	8: 95,075,220 (GRCm39)	V738G	probably benign	Het
Slc26a3	T	C	12: 31,497,830 (GRCm39)	V78A	probably damaging	Het
Slc26a9	G	A	1: 131,691,781 (GRCm39)	V675M	probably damaging	Het
Sncb	T	A	13: 54,910,509 (GRCm39)	I76F	probably benign	Het
Stat4	G	A	1: 52,053,029 (GRCm39)	R70H	probably damaging	Het
Tle6	T	C	10: 81,434,474 (GRCm39)	M42V	probably benign	Het
Tmem67	T	C	4: 12,068,882 (GRCm39)	T439A	probably benign	Het
Ugt2b35	C	A	5: 87,151,141 (GRCm39)	T249K	possibly damaging	Het
Vmn1r231	C	T	17: 21,109,997 (GRCm39)	R306K	probably benign	Het
Vmn1r42	A	T	6: 89,822,023 (GRCm39)	I182N	possibly damaging	Het
Zfhx3	T	C	8: 109,520,515 (GRCm39)	S546P	probably damaging	Het
Zic3	G	T	X: 57,076,899 (GRCm39)		probably null	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
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
IGL03349:Atg2a	APN	19	6,308,054 (GRCm39)	missense	possibly damaging	0.77
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

2015-04-16