Mutagenetix > Incidental Mutation

Incidental Mutation 'R1445:Atg13'

158753

Institutional Source

Beutler Lab

Gene Symbol

Atg13

Ensembl Gene

ENSMUSG00000027244

Gene Name

autophagy related 13

Synonyms

1110053A20Rik, D2Ertd391e

MMRRC Submission

039500-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1445 (G1)

Quality Score

159

Status

Validated

Chromosome

Chromosomal Location

91504963-91540921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91510335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 349 (V349E)

Ref Sequence

ENSEMBL: ENSMUSP00000076081 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028678] [ENSMUST00000076803]

AlphaFold

Q91YI1

Predicted Effect

probably benign
Transcript: ENSMUST00000028678
AA Change: V386E

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000028678
Gene: ENSMUSG00000027244
AA Change: V386E

Domain	Start	End	E-Value	Type
Pfam:ATG13	77	195	1.5e-10	PFAM
low complexity region	252	269	N/A	INTRINSIC
low complexity region	423	442	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000076803
AA Change: V349E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076081
Gene: ENSMUSG00000027244
AA Change: V349E

Domain	Start	End	E-Value	Type
Pfam:ATG13	17	195	1.1e-35	PFAM
low complexity region	386	405	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153631

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.9%
20x: 84.0%

Validation Efficiency

96% (101/105)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an autophagy factor and a target of the TOR kinase signaling pathway. The encoded protein is essential for autophagosome formation and mitophagy. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061I17Rik	G	T	3: 116,861,385 (GRCm39)		noncoding transcript	Het
2300003K06Rik	G	T	11: 99,728,793 (GRCm39)	Q17K	probably benign	Het
Abca16	T	C	7: 120,119,256 (GRCm39)	V999A	probably benign	Het
Actn3	C	T	19: 4,915,483 (GRCm39)		probably benign	Het
Agap2	T	A	10: 126,926,981 (GRCm39)		probably benign	Het
Ago3	C	A	4: 126,265,580 (GRCm39)	R278L	probably benign	Het
Aldh1a2	T	C	9: 71,192,492 (GRCm39)	V449A	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aplnr	A	G	2: 84,967,353 (GRCm39)	Y126C	probably damaging	Het
Apob	T	C	12: 8,066,084 (GRCm39)	I4351T	possibly damaging	Het
Ash1l	T	C	3: 88,914,659 (GRCm39)	L1763P	probably benign	Het
Aspn	T	C	13: 49,710,849 (GRCm39)	S165P	possibly damaging	Het
Atp1b2	T	A	11: 69,493,309 (GRCm39)		probably null	Het
B3glct	A	T	5: 149,677,604 (GRCm39)	D411V	probably damaging	Het
Bcar3	A	T	3: 122,316,840 (GRCm39)	I255F	probably damaging	Het
Cacna1b	G	A	2: 24,608,148 (GRCm39)		probably benign	Het
Cep164	T	G	9: 45,690,198 (GRCm39)	E675A	possibly damaging	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Chst8	C	A	7: 34,447,593 (GRCm39)	M8I	possibly damaging	Het
Clec4n	A	G	6: 123,212,475 (GRCm39)	E67G	probably benign	Het
Cobll1	A	T	2: 64,929,480 (GRCm39)	D653E	probably damaging	Het
Col9a1	T	C	1: 24,276,579 (GRCm39)		probably null	Het
Crip2	T	C	12: 113,107,124 (GRCm39)	L30P	probably damaging	Het
Ctbp1	C	T	5: 33,418,407 (GRCm39)	V22I	probably benign	Het
Cwc22	T	C	2: 77,747,521 (GRCm39)		probably benign	Het
Cyp4a32	C	A	4: 115,460,147 (GRCm39)	Y119*	probably null	Het
Dido1	G	T	2: 180,313,263 (GRCm39)	A463E	possibly damaging	Het
Dnah7a	G	A	1: 53,567,956 (GRCm39)	P1880L	probably benign	Het
Dock2	T	A	11: 34,189,705 (GRCm39)	T1489S	probably benign	Het
Dsp	A	G	13: 38,375,907 (GRCm39)	T1231A	probably damaging	Het
Eif2ak1	G	T	5: 143,810,717 (GRCm39)		probably benign	Het
Entrep1	G	A	19: 23,998,998 (GRCm39)	T140M	probably damaging	Het
Epc1	A	T	18: 6,452,360 (GRCm39)	M233K	probably damaging	Het
Gigyf2	A	G	1: 87,371,360 (GRCm39)		probably benign	Het
Greb1	T	G	12: 16,757,852 (GRCm39)	H58P	probably damaging	Het
Gtpbp1	T	C	15: 79,597,649 (GRCm39)	I348T	possibly damaging	Het
Hck	A	T	2: 152,970,192 (GRCm39)	N64Y	probably benign	Het
Herc2	T	C	7: 55,818,744 (GRCm39)	S2812P	probably damaging	Het
Inpp4b	T	A	8: 82,679,463 (GRCm39)		probably null	Het
Kcnq5	A	C	1: 21,475,248 (GRCm39)	S473A	probably benign	Het
Lrat	T	G	3: 82,810,676 (GRCm39)	D115A	probably damaging	Het
Lyst	A	G	13: 13,814,639 (GRCm39)	I1131M	possibly damaging	Het
Man2a2	T	C	7: 80,018,310 (GRCm39)	D160G	probably benign	Het
Marf1	C	T	16: 13,933,688 (GRCm39)	D1567N	probably benign	Het
Mars1	T	C	10: 127,133,857 (GRCm39)	D680G	possibly damaging	Het
Mat1a	T	C	14: 40,843,797 (GRCm39)	S339P	probably damaging	Het
Megf8	T	C	7: 25,042,081 (GRCm39)	S1300P	probably damaging	Het
Mga	T	C	2: 119,733,179 (GRCm39)	L9S	probably damaging	Het
Mllt6	T	C	11: 97,563,277 (GRCm39)		probably benign	Het
Mrpl37	A	G	4: 106,921,692 (GRCm39)	L179P	probably benign	Het
Mtnr1a	G	T	8: 45,540,782 (GRCm39)	V248L	probably benign	Het
Mylk	T	C	16: 34,635,835 (GRCm39)	S19P	possibly damaging	Het
Or11g1	A	G	14: 50,651,858 (GRCm39)	T286A	probably damaging	Het
Pacc1	A	G	1: 191,080,559 (GRCm39)		probably benign	Het
Parp8	A	T	13: 117,161,886 (GRCm39)		probably null	Het
Pcnx2	T	C	8: 126,479,023 (GRCm39)	D2075G	probably damaging	Het
Pigo	A	T	4: 43,021,460 (GRCm39)	I494K	probably benign	Het
Pkd1l1	A	T	11: 8,820,313 (GRCm39)	D1217E	probably benign	Het
Pkhd1l1	T	C	15: 44,369,040 (GRCm39)	V895A	probably benign	Het
Plcb4	A	T	2: 135,842,109 (GRCm39)	H1031L	possibly damaging	Het
Plxnb1	A	G	9: 108,937,989 (GRCm39)	K1245R	probably null	Het
Pold1	C	T	7: 44,192,181 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,498,423 (GRCm39)	I885V	probably damaging	Het
Ptprz1	A	G	6: 23,050,473 (GRCm39)	D1398G	probably damaging	Het
Pygm	G	A	19: 6,439,917 (GRCm39)	A364T	probably benign	Het
Rbl1	T	C	2: 157,035,018 (GRCm39)	N354S	probably benign	Het
Scgb2b19	C	T	7: 32,979,037 (GRCm39)		probably null	Het
Slc26a8	C	T	17: 28,867,187 (GRCm39)	V545M	possibly damaging	Het
Slc27a1	T	A	8: 72,036,757 (GRCm39)		probably null	Het
Smpd1	A	G	7: 105,205,881 (GRCm39)	D416G	possibly damaging	Het
Sorbs3	A	G	14: 70,431,095 (GRCm39)	V284A	probably benign	Het
Stfa2l1	T	C	16: 35,982,154 (GRCm39)	V75A	probably damaging	Het
Syndig1	A	G	2: 149,772,841 (GRCm39)	D166G	probably damaging	Het
Tcp10a	G	A	17: 7,593,406 (GRCm39)		probably null	Het
Themis2	T	A	4: 132,510,212 (GRCm39)	I663F	possibly damaging	Het
Thrap3	T	C	4: 126,070,129 (GRCm39)	Q586R	probably damaging	Het
Tinag	C	A	9: 76,952,798 (GRCm39)	C62F	probably damaging	Het
Tmod1	T	C	4: 46,090,884 (GRCm39)	Y146H	probably damaging	Het
Tmprss4	T	A	9: 45,095,683 (GRCm39)	I54F	possibly damaging	Het
Tnks	A	C	8: 35,301,757 (GRCm39)		probably benign	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Trpc6	A	G	9: 8,680,538 (GRCm39)	E844G	probably benign	Het
Ubtd2	C	T	11: 32,466,125 (GRCm39)	R115W	probably damaging	Het
Ubxn6	T	C	17: 56,376,042 (GRCm39)	D373G	probably benign	Het
Upf1	T	A	8: 70,794,174 (GRCm39)	Q244L	probably benign	Het
Usp33	A	G	3: 152,074,271 (GRCm39)	I372M	probably damaging	Het
Usp34	A	G	11: 23,301,629 (GRCm39)	E351G	probably damaging	Het
Utrn	A	G	10: 12,554,318 (GRCm39)		probably benign	Het
Vmn1r78	A	G	7: 11,886,508 (GRCm39)	K40E	possibly damaging	Het
Vmn2r7	T	A	3: 64,632,223 (GRCm39)	M80L	probably benign	Het
Vps13a	G	T	19: 16,678,602 (GRCm39)	Y1126*	probably null	Het
Wfdc11	T	C	2: 164,506,366 (GRCm39)	N60S	probably benign	Het
Wnk2	C	T	13: 49,224,586 (GRCm39)	D992N	probably damaging	Het
Zpbp2	C	A	11: 98,444,670 (GRCm39)	T66K	probably damaging	Het

Other mutations in Atg13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00550:Atg13	APN	2	91,522,804 (GRCm39)	missense	probably damaging	0.99
IGL00688:Atg13	APN	2	91,516,842 (GRCm39)	splice site	probably benign
IGL01106:Atg13	APN	2	91,526,297 (GRCm39)	missense	probably damaging	1.00
IGL01309:Atg13	APN	2	91,509,176 (GRCm39)	missense	possibly damaging	0.80
IGL03213:Atg13	APN	2	91,515,512 (GRCm39)	missense	probably damaging	0.96
neodwarf	UTSW	2	91,515,110 (GRCm39)	splice site	probably null
peanut	UTSW	2	91,511,970 (GRCm39)	missense	probably benign	0.44
R0201:Atg13	UTSW	2	91,515,107 (GRCm39)	splice site	probably null
R0571:Atg13	UTSW	2	91,509,063 (GRCm39)	splice site	probably benign
R0606:Atg13	UTSW	2	91,512,418 (GRCm39)	missense	probably benign
R2281:Atg13	UTSW	2	91,509,770 (GRCm39)	missense	probably benign	0.17
R4739:Atg13	UTSW	2	91,515,040 (GRCm39)	missense	probably damaging	1.00
R5356:Atg13	UTSW	2	91,522,811 (GRCm39)	nonsense	probably null
R5434:Atg13	UTSW	2	91,515,110 (GRCm39)	splice site	probably null
R6166:Atg13	UTSW	2	91,506,736 (GRCm39)	missense	probably damaging	0.99
R6891:Atg13	UTSW	2	91,516,136 (GRCm39)	missense	probably benign	0.42
R7126:Atg13	UTSW	2	91,510,765 (GRCm39)	missense	probably damaging	0.99
R7571:Atg13	UTSW	2	91,510,687 (GRCm39)	critical splice donor site	probably null
R7647:Atg13	UTSW	2	91,519,006 (GRCm39)	missense	possibly damaging	0.93
R7767:Atg13	UTSW	2	91,509,711 (GRCm39)	missense	probably damaging	1.00
R8252:Atg13	UTSW	2	91,510,699 (GRCm39)	missense	probably benign	0.01
R8473:Atg13	UTSW	2	91,518,993 (GRCm39)	missense	probably damaging	1.00
R9206:Atg13	UTSW	2	91,512,406 (GRCm39)	missense	probably benign	0.39
R9225:Atg13	UTSW	2	91,519,128 (GRCm39)	critical splice acceptor site	probably null
R9413:Atg13	UTSW	2	91,511,970 (GRCm39)	missense	probably benign	0.44
R9627:Atg13	UTSW	2	91,509,098 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTGCACTACATAGAGTTCCAAGCC -3'
(R):5'- AGCCAGAGTCCCATAATCCTCTGC -3'

Sequencing Primer
(F):5'- gccagttttacctttgtaacaagtc -3'
(R):5'- ATCCTCTGCTGGGAACATATAGG -3'

Posted On

2014-03-14