Mutagenetix > Incidental Mutation

Incidental Mutation 'R8252:Atg13'

640167

Institutional Source

Beutler Lab

Gene Symbol

Atg13

Ensembl Gene

ENSMUSG00000027244

Gene Name

autophagy related 13

Synonyms

1110053A20Rik, D2Ertd391e

MMRRC Submission

067678-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8252 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91504963-91540921 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 91510699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 343 (P343A)

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: P380A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000028678
Gene: ENSMUSG00000027244
AA Change: P380A

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 benign
Transcript: ENSMUST00000076803
AA Change: P343A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000076081
Gene: ENSMUSG00000027244
AA Change: P343A

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

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (60/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,861,284 (GRCm39)		probably benign	Het
Ano4	A	G	10: 88,816,881 (GRCm39)	I644T	probably damaging	Het
Arhgap18	T	A	10: 26,730,932 (GRCm39)	D203E	probably benign	Het
Ascc3	T	A	10: 50,518,706 (GRCm39)	M337K	probably benign	Het
Cacna1c	C	T	6: 118,634,335 (GRCm39)	V1058I		Het
Cd180	A	G	13: 102,842,504 (GRCm39)	T517A	probably benign	Het
Cd1d2	A	C	3: 86,894,375 (GRCm39)	I48L	probably benign	Het
Cdh19	C	T	1: 110,817,615 (GRCm39)	C709Y	probably benign	Het
Chst10	T	C	1: 38,923,433 (GRCm39)	D51G	probably benign	Het
Clec2g	G	A	6: 128,958,335 (GRCm39)	E184K	probably benign	Het
Col19a1	T	A	1: 24,319,048 (GRCm39)	H1014L	probably benign	Het
Fam135b	T	A	15: 71,404,872 (GRCm39)	H58L	probably benign	Het
Fam171b	A	G	2: 83,708,586 (GRCm39)	I363V	probably benign	Het
Hecw1	C	A	13: 14,515,425 (GRCm39)	G236W	probably damaging	Het
Htra3	A	G	5: 35,810,305 (GRCm39)	M459T	probably benign	Het
Iglc2	A	T	16: 19,017,520 (GRCm39)	C27*	probably null	Het
Il36b	A	T	2: 24,048,825 (GRCm39)	T77S	possibly damaging	Het
Kif1b	A	T	4: 149,358,262 (GRCm39)	N135K	probably damaging	Het
Krt5	A	T	15: 101,620,794 (GRCm39)	I151N	probably damaging	Het
Lama4	A	T	10: 38,936,142 (GRCm39)	M606L	probably benign	Het
Lgr6	T	A	1: 134,931,215 (GRCm39)	S280C	probably null	Het
Msh3	T	A	13: 92,357,569 (GRCm39)	T967S	probably damaging	Het
Ndufb4	T	C	16: 37,474,637 (GRCm39)	T29A	probably benign	Het
Nfe2l1	T	C	11: 96,710,058 (GRCm39)	M724V	probably benign	Het
Nudt12	T	C	17: 59,318,089 (GRCm39)	Y52C	probably damaging	Het
Nutm1	G	T	2: 112,082,174 (GRCm39)	Q301K	probably damaging	Het
Or2t46	T	A	11: 58,471,958 (GRCm39)	I96N	probably damaging	Het
Or4c102	A	G	2: 88,423,011 (GRCm39)	R288G	probably damaging	Het
Or5p50	A	G	7: 107,421,776 (GRCm39)	I300T	probably damaging	Het
Or6e1	T	A	14: 54,519,704 (GRCm39)	Y216F	possibly damaging	Het
Pcdh9	T	C	14: 94,126,086 (GRCm39)	Y28C	probably damaging	Het
Pcdha11	G	C	18: 37,140,590 (GRCm39)	V740L	possibly damaging	Het
Pkd1l2	T	C	8: 117,767,472 (GRCm39)	T1273A	probably benign	Het
Pla2g4a	T	C	1: 149,727,058 (GRCm39)	D574G	probably damaging	Het
Prrc2b	A	T	2: 32,109,392 (GRCm39)	Q1719L	possibly damaging	Het
Psap	A	G	10: 60,113,511 (GRCm39)		probably benign	Het
Pwwp3a	A	G	10: 80,077,694 (GRCm39)	I656V	probably benign	Het
Rab11fip2	C	T	19: 59,925,422 (GRCm39)	S265N	probably benign	Het
Rnf10	A	T	5: 115,398,373 (GRCm39)	D53E	probably benign	Het
Scgb2b11	T	C	7: 31,908,764 (GRCm39)	E112G	probably benign	Het
Scml4	T	C	10: 42,800,100 (GRCm39)	Y85H	noncoding transcript	Het
Setd5	T	A	6: 113,127,916 (GRCm39)	Y1290N	probably benign	Het
Sgk1	T	A	10: 21,873,298 (GRCm39)	C375S	probably damaging	Het
Sik2	A	G	9: 50,828,415 (GRCm39)	V209A	possibly damaging	Het
Sipa1l2	A	T	8: 126,195,410 (GRCm39)	V776D	probably damaging	Het
Slamf1	T	A	1: 171,594,796 (GRCm39)	M1K	probably null	Het
Slc26a7	T	C	4: 14,621,415 (GRCm39)		probably benign	Het
Spg11	G	T	2: 121,918,820 (GRCm39)		probably benign	Het
Sry	C	A	Y: 2,663,298 (GRCm39)	A121S	possibly damaging	Het
Sspo	C	T	6: 48,462,386 (GRCm39)	T3719I	probably damaging	Het
Tcap	T	C	11: 98,275,171 (GRCm39)	S102P	probably benign	Het
Thap7	T	C	16: 17,346,486 (GRCm39)	R166G	probably benign	Het
Tmem229a	T	C	6: 24,955,580 (GRCm39)	Y58C	probably damaging	Het
Trim8	A	G	19: 46,504,059 (GRCm39)	Y537C	probably damaging	Het
Ubr4	T	A	4: 139,200,528 (GRCm39)	M4692K	unknown	Het
Uvssa	A	G	5: 33,549,523 (GRCm39)	S395G	probably benign	Het
Vgll4	G	T	6: 114,867,695 (GRCm39)	T52K	probably damaging	Het
Vmn2r7	A	G	3: 64,600,527 (GRCm39)	L548P	probably benign	Het
Vmn2r92	T	A	17: 18,387,134 (GRCm39)	S158T	probably damaging	Het
Wdr70	A	T	15: 8,072,337 (GRCm39)		probably benign	Het
Zbtb48	A	T	4: 152,105,344 (GRCm39)	C463S	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
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
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
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'- GTTCCCAGCAGAGGATTATGGG -3'
(R):5'- TGACTCCACAGGCACTAGAG -3'

Sequencing Primer
(F):5'- GCTGGGAATGCTTAGTCATAGTTAC -3'
(R):5'- TCCACAGGCACTAGAGATGTTCTG -3'

Posted On

2020-07-28