Mutagenetix > Incidental Mutation

Incidental Mutation 'R7217:Atg2a'

561562

Institutional Source

Beutler Lab

Gene Symbol

Atg2a

Ensembl Gene

ENSMUSG00000024773

Gene Name

autophagy related 2A

Synonyms

1810013C15Rik

MMRRC Submission

045289-MU

Accession Numbers

Essential gene?

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

Stock #

R7217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6291698-6312365 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 6303471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046412 (fasta)

Gene Model

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

AlphaFold

Q6P4T0

Predicted Effect

probably null
Transcript: ENSMUST00000045351

SMART Domains

Protein: ENSMUSP00000046412
Gene: ENSMUSG00000024773

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

probably null
Transcript: ENSMUST00000145600

SMART Domains

Protein: ENSMUSP00000114998
Gene: ENSMUSG00000024773

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

Meta Mutation Damage Score

0.9581

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

91% (40/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	C	A	5: 138,645,188 (GRCm39)	H358N	probably benign	Het
Abcg3	A	G	5: 105,087,094 (GRCm39)	F543L	possibly damaging	Het
Asnsd1	T	C	1: 53,387,352 (GRCm39)	T92A	probably damaging	Het
Aven	T	A	2: 112,461,191 (GRCm39)	N327K	possibly damaging	Het
Brd9	T	C	13: 74,087,063 (GRCm39)	V116A	probably damaging	Het
Car14	A	G	3: 95,806,629 (GRCm39)	S250P	probably damaging	Het
Ccdc138	T	C	10: 58,345,422 (GRCm39)	I138T	probably benign	Het
Cmya5	A	G	13: 93,226,938 (GRCm39)	Y2717H	probably damaging	Het
Eno1b	C	A	18: 48,180,746 (GRCm39)	T308K	probably damaging	Het
Epha3	T	C	16: 63,372,857 (GRCm39)	T949A	probably benign	Het
Fcrl5	C	T	3: 87,351,081 (GRCm39)	T197M	probably damaging	Het
Foxp2	A	T	6: 15,416,023 (GRCm39)	Q664L	unknown	Het
Fsip2	A	T	2: 82,819,412 (GRCm39)	K5048N	possibly damaging	Het
Gcnt4	T	C	13: 97,082,818 (GRCm39)	L38P	probably damaging	Het
Gpr68	A	G	12: 100,845,058 (GRCm39)	V162A	possibly damaging	Het
Grin3a	A	T	4: 49,770,741 (GRCm39)	M677K	possibly damaging	Het
Grm7	A	G	6: 111,335,785 (GRCm39)	Y732C	probably damaging	Het
H2-T15	A	C	17: 36,367,235 (GRCm39)	M329R	probably benign	Het
Hoxb4	A	G	11: 96,209,906 (GRCm39)	E104G	probably benign	Het
Kat7	A	G	11: 95,182,390 (GRCm39)	S237P	possibly damaging	Het
Kif13b	T	C	14: 65,010,517 (GRCm39)	V1272A	probably damaging	Het
Kif20a	T	A	18: 34,762,613 (GRCm39)	H495Q	probably benign	Het
Lama1	A	T	17: 68,071,668 (GRCm39)	T852S		Het
Mep1b	T	A	18: 21,226,600 (GRCm39)	D487E	probably benign	Het
Mki67	T	C	7: 135,305,911 (GRCm39)	T656A	probably damaging	Het
Mlh3	A	G	12: 85,313,481 (GRCm39)	W902R	probably benign	Het
Muc16	A	T	9: 18,555,372 (GRCm39)	Y3640*	probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Pkd1l2	A	G	8: 117,722,536 (GRCm39)	I2424T	probably benign	Het
Prl8a2	A	G	13: 27,534,998 (GRCm39)	E91G	possibly damaging	Het
Prpf18	A	G	2: 4,650,435 (GRCm39)	V65A	probably benign	Het
Pxmp2	A	G	5: 110,433,771 (GRCm39)	V34A	probably damaging	Het
Ranbp2	T	G	10: 58,287,839 (GRCm39)	Y36D	probably damaging	Het
Rbm25	G	A	12: 83,710,991 (GRCm39)	R368Q	unknown	Het
Rims2	C	A	15: 39,339,885 (GRCm39)	L860M	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Scn8a	A	T	15: 100,868,108 (GRCm39)	M318L	probably benign	Het
Slc35b2	A	G	17: 45,875,955 (GRCm39)	T55A	probably benign	Het
Trnp1	T	C	4: 133,225,416 (GRCm39)	E118G	possibly damaging	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Wdfy3	A	T	5: 102,049,785 (GRCm39)	H1680Q	probably damaging	Het
Zfp131	A	G	13: 120,237,377 (GRCm39)	I327T	probably damaging	Het
Zfp729b	A	G	13: 67,743,367 (GRCm39)	V66A	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGTGTTAGAGGAGGTCACTC -3'
(R):5'- AGACAGCTTGCATCCCTAAG -3'

Sequencing Primer
(F):5'- TTAGAGGAGGTCACTCTGTCCC -3'
(R):5'- AACATGGGGTCCTGGCTAGAC -3'

Posted On

2019-06-26