Mutagenetix > Incidental Mutation

Incidental Mutation 'R5356:Atg13'

424079

Institutional Source

Beutler Lab

Gene Symbol

Atg13

Ensembl Gene

ENSMUSG00000027244

Gene Name

autophagy related 13

Synonyms

1110053A20Rik, D2Ertd391e

MMRRC Submission

042935-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5356 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91504963-91540921 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 91522811 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 78 (R78*)

Ref Sequence

ENSEMBL: ENSMUSP00000076081 (fasta)

Gene Model

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

AlphaFold

Q91YI1

Predicted Effect

probably null
Transcript: ENSMUST00000028678
AA Change: R78*

SMART Domains

Protein: ENSMUSP00000028678
Gene: ENSMUSG00000027244
AA Change: R78*

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 null
Transcript: ENSMUST00000076803
AA Change: R78*

SMART Domains

Protein: ENSMUSP00000076081
Gene: ENSMUSG00000027244
AA Change: R78*

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: ENSMUST00000136412

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	C	T	3: 37,119,405 (GRCm39)	T162I	probably damaging	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Amn1	T	C	6: 149,068,392 (GRCm39)	I205M	possibly damaging	Het
Ankrd50	A	C	3: 38,510,334 (GRCm39)	S678A	probably damaging	Het
Bmper	T	G	9: 23,285,157 (GRCm39)	F235L	probably benign	Het
Btn2a2	C	T	13: 23,667,045 (GRCm39)	V187I	probably benign	Het
Cabs1	G	A	5: 88,127,492 (GRCm39)	V48I	probably benign	Het
Cacnb3	A	G	15: 98,539,498 (GRCm39)	I212V	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cep162	T	C	9: 87,088,948 (GRCm39)	E978G	probably damaging	Het
Cmya5	A	T	13: 93,199,993 (GRCm39)	L3445Q	probably damaging	Het
Cntrl	T	A	2: 35,038,911 (GRCm39)	L1067*	probably null	Het
Cyp20a1	G	A	1: 60,418,546 (GRCm39)	V329I	probably benign	Het
Cyp2d11	A	T	15: 82,274,712 (GRCm39)	N288K	probably benign	Het
D430041D05Rik	T	G	2: 104,085,754 (GRCm39)	T932P	probably damaging	Het
Dlk1	T	A	12: 109,421,447 (GRCm39)	C54S	probably damaging	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
Entpd6	T	A	2: 150,612,303 (GRCm39)	F416L	probably damaging	Het
Evx1	A	G	6: 52,293,602 (GRCm39)	T257A	probably benign	Het
Fpr-rs3	A	T	17: 20,844,596 (GRCm39)	S182T	probably damaging	Het
Glra3	A	T	8: 56,393,936 (GRCm39)	I16F	probably benign	Het
Gm11437	C	A	11: 84,043,513 (GRCm39)	L259F	possibly damaging	Het
Gorasp1	A	T	9: 119,757,024 (GRCm39)	L386Q	probably damaging	Het
Gpsm1	T	C	2: 26,230,574 (GRCm39)	V508A	possibly damaging	Het
Gstm1	T	A	3: 107,920,052 (GRCm39)	I180F	probably benign	Het
Hc	T	C	2: 34,885,007 (GRCm39)	D1400G	probably benign	Het
Lrp2	A	G	2: 69,295,052 (GRCm39)	V3422A	possibly damaging	Het
Map3k4	A	G	17: 12,466,195 (GRCm39)	V1128A	possibly damaging	Het
Mboat2	G	C	12: 25,007,572 (GRCm39)	V363L	probably benign	Het
Mgat3	A	G	15: 80,096,655 (GRCm39)	N494S	probably damaging	Het
Mgat3	A	G	15: 80,095,811 (GRCm39)	I213V	possibly damaging	Het
Mtf2	A	T	5: 108,254,476 (GRCm39)	T426S	possibly damaging	Het
Muc3a	T	C	5: 137,245,021 (GRCm39)	I151V	probably benign	Het
Myh6	T	C	14: 55,191,219 (GRCm39)	E874G	probably damaging	Het
Myo15a	G	A	11: 60,389,192 (GRCm39)	G2030R	probably damaging	Het
Ncdn	T	C	4: 126,641,021 (GRCm39)	Y493C	probably damaging	Het
Ncoa6	A	G	2: 155,263,112 (GRCm39)	F441L	probably damaging	Het
Ndc80	A	T	17: 71,828,103 (GRCm39)	S75T	possibly damaging	Het
Nf1	T	C	11: 79,364,282 (GRCm39)	F1571L	possibly damaging	Het
Nherf2	A	G	17: 24,860,945 (GRCm39)	V88A	probably damaging	Het
Nme8	A	G	13: 19,836,469 (GRCm39)	F236L	probably damaging	Het
Nsmce4a	C	A	7: 130,138,778 (GRCm39)	V289L	probably damaging	Het
Ntrk2	A	T	13: 59,208,056 (GRCm39)	D634V	probably damaging	Het
Pcsk6	G	C	7: 65,620,340 (GRCm39)	E479Q	probably damaging	Het
Pkd1	A	G	17: 24,812,551 (GRCm39)	Q3828R	probably damaging	Het
Ptov1	T	A	7: 44,514,089 (GRCm39)	T295S	probably damaging	Het
Ptprf	A	G	4: 118,083,535 (GRCm39)	M824T	probably benign	Het
Rbm6	T	A	9: 107,729,865 (GRCm39)	H129L	probably damaging	Het
Rbm8a2	A	G	1: 175,806,255 (GRCm39)	I74T	possibly damaging	Het
Ret	A	G	6: 118,174,079 (GRCm39)	S6P	possibly damaging	Het
Rspo3	A	T	10: 29,376,064 (GRCm39)	C70*	probably null	Het
Sike1	C	A	3: 102,909,106 (GRCm39)	A202D	possibly damaging	Het
Slco4c1	G	T	1: 96,759,835 (GRCm39)	P499H	probably damaging	Het
Smg1	A	G	7: 117,794,356 (GRCm39)		probably benign	Het
Tmem135	A	G	7: 88,954,723 (GRCm39)	V98A	probably benign	Het
Tor4a	T	A	2: 25,085,918 (GRCm39)		probably null	Het
Txlna	A	G	4: 129,524,166 (GRCm39)	F397S	probably damaging	Het
Tyk2	A	G	9: 21,027,040 (GRCm39)	I581T	probably benign	Het
Unc13a	C	T	8: 72,115,158 (GRCm39)	D164N	probably benign	Het
Vwa3b	T	C	1: 37,153,664 (GRCm39)	I502T	probably damaging	Het
Xrcc6	A	G	15: 81,913,419 (GRCm39)	T6A	probably benign	Het
Zfp524	T	C	7: 5,021,432 (GRCm39)	V320A	probably benign	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
R1445:Atg13	UTSW	2	91,510,335 (GRCm39)	missense	probably damaging	0.99
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
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'- TAAGCATGGGCAATAACTAGGC -3'
(R):5'- CTTGAGAGGCTCCAGTACAAAC -3'

Sequencing Primer
(F):5'- TGGGCAATAACTAGGCTTAATACCC -3'
(R):5'- CAGTACAAACTGTTTTCCATAGGG -3'

Posted On

2016-08-04