Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02538:Atg2a'

297609

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 #

IGL02538

Quality Score

Status

Chromosome

Chromosomal Location

6291698-6312365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6307658 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1531 (T1531A)

Ref Sequence

ENSEMBL: ENSMUSP00000046412 (fasta)

Gene Model

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

AlphaFold

Q6P4T0

Predicted Effect

probably benign
Transcript: ENSMUST00000045351
AA Change: T1531A

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

SMART Domains

Protein: ENSMUSP00000046412
Gene: ENSMUSG00000024773
AA Change: T1531A

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: T1334A

SMART Domains

Protein: ENSMUSP00000114998
Gene: ENSMUSG00000024773
AA Change: T1334A

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,136,949 (GRCm39)	I171L	possibly damaging	Het
Amdhd1	C	T	10: 93,363,108 (GRCm39)	V327I	probably damaging	Het
Ankrd1	T	C	19: 36,092,456 (GRCm39)	H257R	probably damaging	Het
Ano5	G	A	7: 51,233,523 (GRCm39)	R595H	probably damaging	Het
Bsn	A	G	9: 107,982,435 (GRCm39)	S1001P	unknown	Het
Btn1a1	T	C	13: 23,643,385 (GRCm39)	T355A	possibly damaging	Het
Cd22	G	T	7: 30,576,985 (GRCm39)	N107K	probably benign	Het
Ceacam10	A	G	7: 24,477,908 (GRCm39)	H141R	probably damaging	Het
Chil3	T	C	3: 106,071,445 (GRCm39)	D73G	probably damaging	Het
Cit	C	T	5: 116,125,048 (GRCm39)	Q1536*	probably null	Het
Dmgdh	T	A	13: 93,845,261 (GRCm39)	I418K	possibly damaging	Het
Efcab6	T	A	15: 83,938,722 (GRCm39)		probably benign	Het
Eif4g2	T	C	7: 110,678,523 (GRCm39)	I110V	probably benign	Het
Fam217a	T	C	13: 35,095,096 (GRCm39)	Y221C	probably damaging	Het
Fezf1	T	A	6: 23,246,557 (GRCm39)	K342N	probably damaging	Het
Git2	A	T	5: 114,869,047 (GRCm39)		probably benign	Het
Gm8126	A	T	14: 43,117,047 (GRCm39)	R63W	probably benign	Het
Ica1l	T	C	1: 60,049,345 (GRCm39)	K203E	probably benign	Het
Iigp1c	A	T	18: 60,378,944 (GRCm39)	K160*	probably null	Het
Inpp5d	A	G	1: 87,623,088 (GRCm39)	M393V	probably null	Het
Kbtbd11	A	G	8: 15,078,841 (GRCm39)	D480G	probably damaging	Het
Klhl1	T	C	14: 96,477,649 (GRCm39)	N473S	probably benign	Het
Krt1c	A	G	15: 101,719,589 (GRCm39)	S694P	unknown	Het
Lhfpl6	C	T	3: 52,950,732 (GRCm39)	A2V	probably benign	Het
Lipk	T	A	19: 34,024,279 (GRCm39)	L354Q	probably damaging	Het
Luzp2	T	A	7: 54,861,546 (GRCm39)	L225*	probably null	Het
Mknk1	C	T	4: 115,717,288 (GRCm39)	Q58*	probably null	Het
Mmut	A	T	17: 41,249,510 (GRCm39)	I162F	probably damaging	Het
Nol11	T	A	11: 107,064,199 (GRCm39)	M518L	probably benign	Het
Nubpl	T	C	12: 52,357,477 (GRCm39)		probably benign	Het
Nup35	T	A	2: 80,474,563 (GRCm39)	S93R	possibly damaging	Het
Or2t48	T	C	11: 58,420,816 (GRCm39)		probably benign	Het
Or5ak22	T	A	2: 85,230,647 (GRCm39)	I77F	probably damaging	Het
Pex3	T	C	10: 13,411,344 (GRCm39)	E178G	possibly damaging	Het
Rad23b	C	A	4: 55,370,457 (GRCm39)	P161Q	possibly damaging	Het
Sipa1l2	A	G	8: 126,178,716 (GRCm39)	S1128P	probably damaging	Het
Terb2	T	C	2: 122,035,289 (GRCm39)		probably benign	Het
Trim72	A	G	7: 127,603,942 (GRCm39)	Y96C	probably damaging	Het
Tyk2	T	C	9: 21,022,339 (GRCm39)	D830G	possibly damaging	Het
Uri1	A	G	7: 37,664,916 (GRCm39)	S259P	probably benign	Het
Usp38	A	T	8: 81,712,187 (GRCm39)	L616H	probably damaging	Het
Uspl1	T	A	5: 149,125,269 (GRCm39)	C73S	probably damaging	Het
Wdr7	C	A	18: 63,929,306 (GRCm39)	D1047E	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
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