Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:Atg7'

543536

Institutional Source

Beutler Lab

Gene Symbol

Atg7

Ensembl Gene

ENSMUSG00000030314

Gene Name

autophagy related 7

Synonyms

1810013K23Rik, Apg7l

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6702 (G1)

Quality Score

221.009

Status

Validated

Chromosome

Chromosomal Location

114643097-114860614 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 114671097 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032457] [ENSMUST00000169310] [ENSMUST00000182034] [ENSMUST00000182035] [ENSMUST00000182098] [ENSMUST00000182169] [ENSMUST00000182428] [ENSMUST00000182510] [ENSMUST00000182771] [ENSMUST00000182793] [ENSMUST00000182902] [ENSMUST00000183165]

AlphaFold

Q9D906

Predicted Effect

probably benign
Transcript: ENSMUST00000032457

SMART Domains

Protein: ENSMUSP00000032457
Gene: ENSMUSG00000030314

Domain	Start	End	E-Value	Type
Pfam:ThiF	350	506	1.6e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000169310

SMART Domains

Protein: ENSMUSP00000133215
Gene: ENSMUSG00000030314

Domain	Start	End	E-Value	Type
Pfam:ATG7_N	9	319	1.5e-106	PFAM
Pfam:ThiF	329	643	7.9e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182034

SMART Domains

Protein: ENSMUSP00000138358
Gene: ENSMUSG00000030314

Domain	Start	End	E-Value	Type
PDB:3VX8\|A	25	231	1e-39	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000182035

SMART Domains

Protein: ENSMUSP00000138731
Gene: ENSMUSG00000030314

Domain	Start	End	E-Value	Type
PDB:3VX8\|A	9	222	9e-40	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000182098

Predicted Effect

probably benign
Transcript: ENSMUST00000182169

SMART Domains

Protein: ENSMUSP00000138404
Gene: ENSMUSG00000030314

Domain	Start	End	E-Value	Type
PDB:3VX8\|A	32	110	2e-9	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000182428

SMART Domains

Protein: ENSMUSP00000138779
Gene: ENSMUSG00000030314

Domain	Start	End	E-Value	Type
Pfam:ThiF	350	506	1.1e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182510

SMART Domains

Protein: ENSMUSP00000138300
Gene: ENSMUSG00000030314

Domain	Start	End	E-Value	Type
PDB:3VX8\|A	9	159	8e-37	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000182771

SMART Domains

Protein: ENSMUSP00000138374
Gene: ENSMUSG00000030314

Domain	Start	End	E-Value	Type
PDB:3VX8\|A	9	47	7e-8	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000182793

SMART Domains

Protein: ENSMUSP00000138137
Gene: ENSMUSG00000030314

Domain	Start	End	E-Value	Type
Pfam:ThiF	350	506	1.6e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000182902

SMART Domains

Protein: ENSMUSP00000138651
Gene: ENSMUSG00000030314

Domain	Start	End	E-Value	Type
Pfam:ThiF	350	506	1.6e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183165

SMART Domains

Protein: ENSMUSP00000138600
Gene: ENSMUSG00000030314

Domain	Start	End	E-Value	Type
Pfam:ThiF	311	467	9.7e-38	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

MGI Phenotype

FUNCTION: This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutation of this gene causes impairment of constitutive and starvation-induced autophagy resulting in defective protein degradation. Homozygous null mice die within 1 day of birth and have decreased body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659	Y66*	probably null	Het
2810474O19Rik	T	A	6: 149,327,878	N807K	probably damaging	Het
Ak3	A	G	19: 29,026,227	V183A	probably damaging	Het
Ano10	G	T	9: 122,259,564	Q397K	possibly damaging	Het
Brpf3	A	C	17: 28,810,659	N531T	probably benign	Het
Casp2	T	C	6: 42,268,051	V128A	probably benign	Het
Cdcp2	T	C	4: 107,107,086	C378R	probably benign	Het
Cfap54	T	A	10: 92,868,734	D2828V	unknown	Het
Col6a3	T	C	1: 90,779,439	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,258,688	T93A	probably benign	Het
Ddx54	T	A	5: 120,626,503	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,546,227	S56P	probably damaging	Het
Dna2	T	A	10: 62,973,294	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,805,805	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,318,687	F296L	probably benign	Het
Fat1	A	G	8: 44,953,046	T945A	probably benign	Het
Herpud1	T	C	8: 94,392,526		probably null	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Kif26b	C	G	1: 178,917,287	S1649R	possibly damaging	Het
Lamp5	C	G	2: 136,059,563	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,308,068	S290P	probably benign	Het
Map4k1	T	G	7: 29,002,396	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406	C134S	possibly damaging	Het
Myo15	A	G	11: 60,492,992	I1622V	probably benign	Het
Nbea	A	G	3: 56,005,502	Y955H	probably benign	Het
Ndor1	A	G	2: 25,249,890	F142S	possibly damaging	Het
Nynrin	A	G	14: 55,864,478	T535A	possibly damaging	Het
Olfr1176	G	A	2: 88,340,242	V226I	probably benign	Het
Olfr1290	T	A	2: 111,490,109		probably null	Het
Olfr205	C	T	16: 59,328,598	V304I	probably benign	Het
Olfr727	A	G	14: 50,127,231	Y218C	probably damaging	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,444,775	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,341,906	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Per2	C	T	1: 91,427,949	E696K	probably damaging	Het
Pld4	T	C	12: 112,765,051	S213P	probably damaging	Het
Prkg1	T	A	19: 30,993,084	H209L	probably benign	Het
Psg16	T	C	7: 17,090,396	L35P	probably damaging	Het
Pxn	C	T	5: 115,551,896	L160F	probably benign	Het
Rab3a	A	G	8: 70,756,448	D77G	probably damaging	Het
Rgma	A	T	7: 73,417,320	T108S	probably damaging	Het
Rxrg	A	G	1: 167,613,805	S51G	probably benign	Het
S1pr3	A	T	13: 51,419,439	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189		probably null	Het
Sfrp5	G	T	19: 42,201,827	T62K	probably benign	Het
Slco1a6	T	A	6: 142,103,100	Y318F	probably damaging	Het
Slit1	A	C	19: 41,614,870	S931A	possibly damaging	Het
Sorl1	A	T	9: 42,071,201	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,684,387	S209P	probably benign	Het
Supt6	C	A	11: 78,231,800	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,659,384	M234R	probably benign	Het
Tmem72	C	G	6: 116,698,349	V61L	probably benign	Het
Trpm5	C	A	7: 143,069,318		probably benign	Het
Ttn	T	G	2: 76,720,112	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210		probably benign	Het
Ubr3	A	T	2: 69,956,049	R836W	probably benign	Het
Umodl1	A	G	17: 30,986,299		probably null	Het
Ythdf1	A	G	2: 180,919,133		probably null	Het
Zfp780b	T	C	7: 27,971,641	T81A	possibly damaging	Het
Zfp811	T	C	17: 32,797,842	E407G	probably damaging	Het

Other mutations in Atg7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02969:Atg7	APN	6	114724923	missense	possibly damaging	0.71
R1460:Atg7	UTSW	6	114703364	missense	probably damaging	0.99
R1467:Atg7	UTSW	6	114858982	splice site	probably benign
R1561:Atg7	UTSW	6	114701172	missense	possibly damaging	0.52
R1755:Atg7	UTSW	6	114673677	missense	possibly damaging	0.64
R1934:Atg7	UTSW	6	114701235	missense	probably damaging	0.98
R1962:Atg7	UTSW	6	114706230	missense	probably damaging	1.00
R1964:Atg7	UTSW	6	114706230	missense	probably damaging	1.00
R2064:Atg7	UTSW	6	114703363	missense	probably damaging	1.00
R3722:Atg7	UTSW	6	114695663	missense	probably damaging	0.99
R3870:Atg7	UTSW	6	114697047	missense	possibly damaging	0.71
R3926:Atg7	UTSW	6	114673678	missense	possibly damaging	0.81
R4044:Atg7	UTSW	6	114701978	missense	probably benign	0.00
R4111:Atg7	UTSW	6	114713294	missense	probably damaging	0.98
R4212:Atg7	UTSW	6	114703425	missense	probably benign	0.02
R4943:Atg7	UTSW	6	114697084	missense	probably benign	0.25
R5216:Atg7	UTSW	6	114724949	missense	probably damaging	0.96
R5465:Atg7	UTSW	6	114652532	missense	probably benign
R5555:Atg7	UTSW	6	114702053	missense	probably damaging	1.00
R5618:Atg7	UTSW	6	114673699	missense	probably damaging	0.99
R5902:Atg7	UTSW	6	114673678	missense	possibly damaging	0.81
R5903:Atg7	UTSW	6	114706293	nonsense	probably null
R5980:Atg7	UTSW	6	114680236	missense	possibly damaging	0.80
R6031:Atg7	UTSW	6	114671233	missense	probably benign	0.01
R6031:Atg7	UTSW	6	114671233	missense	probably benign	0.01
R6178:Atg7	UTSW	6	114724895	missense	probably damaging	1.00
R6924:Atg7	UTSW	6	114709211	critical splice donor site	probably null
R6941:Atg7	UTSW	6	114673678	missense	possibly damaging	0.81
R7201:Atg7	UTSW	6	114777057	missense	probably damaging	1.00
R7561:Atg7	UTSW	6	114673041	missense	possibly damaging	0.80
R8070:Atg7	UTSW	6	114697080	missense	probably benign	0.03
R8170:Atg7	UTSW	6	114701190	missense	probably benign	0.11
R8329:Atg7	UTSW	6	114686096	missense	possibly damaging	0.70
R8367:Atg7	UTSW	6	114686099	missense	probably benign
R9084:Atg7	UTSW	6	114701935	missense	probably damaging	1.00
R9221:Atg7	UTSW	6	114695627	missense	possibly damaging	0.94
R9411:Atg7	UTSW	6	114713328	missense	probably benign	0.41
R9622:Atg7	UTSW	6	114678032	missense	probably benign	0.00
Z1088:Atg7	UTSW	6	114695686	missense	probably benign	0.15
Z1176:Atg7	UTSW	6	114673050	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AATAATCCTGGGCCATATTGGG -3'
(R):5'- TACCATGCTTGTGAACCACG -3'

Sequencing Primer
(F):5'- GCAAGTCAGCCCATATTGGTG -3'
(R):5'- TTGTGAACCACGCATGTGC -3'

Posted On

2019-02-22