Mutagenetix > Incidental Mutation

Incidental Mutation 'R1962:Atg7'

216962

Institutional Source

Beutler Lab

Gene Symbol

Atg7

Ensembl Gene

ENSMUSG00000030314

Gene Name

autophagy related 7

Synonyms

1810013K23Rik, Apg7l

MMRRC Submission

039976-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1962 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

114620075-114837565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114683191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 418 (L418P)

Ref Sequence

ENSEMBL: ENSMUSP00000138600 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032457] [ENSMUST00000169310] [ENSMUST00000182428] [ENSMUST00000182793] [ENSMUST00000182902] [ENSMUST00000183165]

AlphaFold

Q9D906

Predicted Effect

probably damaging
Transcript: ENSMUST00000032457
AA Change: L457P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032457
Gene: ENSMUSG00000030314
AA Change: L457P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169310
AA Change: L500P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133215
Gene: ENSMUSG00000030314
AA Change: L500P

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 damaging
Transcript: ENSMUST00000182428
AA Change: L457P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138779
Gene: ENSMUSG00000030314
AA Change: L457P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000182793
AA Change: L457P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138137
Gene: ENSMUSG00000030314
AA Change: L457P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000182902
AA Change: L457P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138651
Gene: ENSMUSG00000030314
AA Change: L457P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000183165
AA Change: L418P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000138600
Gene: ENSMUSG00000030314
AA Change: L418P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203130

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,940,468 (GRCm39)	I354M	probably damaging	Het
Abca8a	T	C	11: 109,917,731 (GRCm39)		probably null	Het
Abca8b	T	C	11: 109,870,724 (GRCm39)	R143G	probably benign	Het
Actn4	T	C	7: 28,594,047 (GRCm39)	D840G	probably damaging	Het
Agpat5	T	C	8: 18,928,026 (GRCm39)	L197P	probably damaging	Het
Akr1d1	T	C	6: 37,512,983 (GRCm39)	V93A	probably benign	Het
Arap2	T	C	5: 62,834,007 (GRCm39)	K820R	possibly damaging	Het
Armc9	T	A	1: 86,135,696 (GRCm39)	C551S	probably damaging	Het
Awat2	G	A	X: 99,448,165 (GRCm39)	P148S	probably damaging	Het
Brms1	C	T	19: 5,096,027 (GRCm39)	R34W	probably damaging	Het
Cbx2	A	G	11: 118,919,395 (GRCm39)	Q320R	possibly damaging	Het
Ccdc106	G	A	7: 5,062,539 (GRCm39)	D11N	possibly damaging	Het
Ccdc30	C	T	4: 119,196,988 (GRCm39)	R426Q	probably benign	Het
Cdc42bpg	T	A	19: 6,356,885 (GRCm39)	V47E	probably damaging	Het
Cep170b	C	T	12: 112,704,495 (GRCm39)	S751L	probably damaging	Het
Cfap46	A	T	7: 139,246,957 (GRCm39)	L328Q	probably damaging	Het
Crtc3	A	G	7: 80,239,679 (GRCm39)	F558L	probably damaging	Het
Cyp2d34	A	G	15: 82,502,809 (GRCm39)	V139A	probably benign	Het
Dchs1	A	G	7: 105,413,408 (GRCm39)	Y1136H	probably damaging	Het
Dhrs4	T	C	14: 55,725,060 (GRCm39)	V185A	probably damaging	Het
Dnah7b	A	G	1: 46,281,263 (GRCm39)	K2775E	possibly damaging	Het
Dst	C	A	1: 34,230,097 (GRCm39)	S2238R	possibly damaging	Het
Duox2	T	C	2: 122,127,853 (GRCm39)		probably null	Het
Dusp16	G	T	6: 134,695,099 (GRCm39)	Y577*	probably null	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Eml5	A	G	12: 98,842,570 (GRCm39)	F176S	probably damaging	Het
Esco2	C	A	14: 66,068,982 (GRCm39)	R109S	probably damaging	Het
Galnt7	C	T	8: 57,985,748 (GRCm39)	E541K	probably benign	Het
Gbf1	C	T	19: 46,255,658 (GRCm39)	T707I	probably damaging	Het
Gdf5	A	G	2: 155,783,672 (GRCm39)	C427R	probably damaging	Het
Glyctk	T	C	9: 106,035,064 (GRCm39)	M1V	probably null	Het
Gm5478	T	C	15: 101,552,830 (GRCm39)	E367G	probably damaging	Het
Golga7b	G	A	19: 42,251,768 (GRCm39)	V5I	probably benign	Het
Gpt2	T	C	8: 86,219,764 (GRCm39)	L70P	probably damaging	Het
Gsdmc3	C	A	15: 63,730,315 (GRCm39)	Q416H	probably damaging	Het
Hoxb5	A	G	11: 96,194,918 (GRCm39)	E160G	probably benign	Het
Ift81	A	T	5: 122,698,772 (GRCm39)	Y532N	probably benign	Het
Igf1	G	A	10: 87,700,726 (GRCm39)	C66Y	probably damaging	Het
Igf1r	T	C	7: 67,857,023 (GRCm39)	V995A	probably damaging	Het
Ip6k1	T	C	9: 107,918,287 (GRCm39)		probably null	Het
Jaml	T	C	9: 45,015,495 (GRCm39)	I333T	possibly damaging	Het
Kdm4c	T	C	4: 74,225,253 (GRCm39)		probably benign	Het
Kdm6b	T	C	11: 69,292,191 (GRCm39)		probably benign	Het
Krt6a	C	T	15: 101,599,900 (GRCm39)	R404H	probably damaging	Het
Larp4b	C	A	13: 9,186,878 (GRCm39)	H69N	probably benign	Het
Lcat	A	T	8: 106,668,355 (GRCm39)	W222R	probably damaging	Het
Lrrc40	T	A	3: 157,746,086 (GRCm39)	C54S	probably benign	Het
Mcpt9	T	A	14: 56,265,024 (GRCm39)	H159L	probably benign	Het
Megf8	T	C	7: 25,062,976 (GRCm39)	V2444A	probably damaging	Het
Memo1	T	C	17: 74,552,003 (GRCm39)	T98A	possibly damaging	Het
Mical2	A	T	7: 112,012,051 (GRCm39)	I634L	probably benign	Het
Mov10	C	T	3: 104,704,293 (GRCm39)	R835Q	probably damaging	Het
Mybpc1	A	T	10: 88,384,688 (GRCm39)	L546Q	probably damaging	Het
Myo6	T	C	9: 80,168,117 (GRCm39)	V427A	probably damaging	Het
Myom2	T	A	8: 15,182,599 (GRCm39)		probably null	Het
Mzt2	G	A	16: 15,666,543 (GRCm39)	R125C	probably damaging	Het
Neb	T	A	2: 52,162,949 (GRCm39)	R2031*	probably null	Het
Nphp3	T	C	9: 103,898,537 (GRCm39)	S447P	probably benign	Het
Nrp2	T	A	1: 62,758,090 (GRCm39)	D25E	probably benign	Het
Nts	A	G	10: 102,320,918 (GRCm39)	L57S	probably damaging	Het
Nudt9	G	A	5: 104,212,971 (GRCm39)	R348H	probably benign	Het
Or10d5j	T	C	9: 39,867,979 (GRCm39)	Y84C	probably benign	Het
Or13a1	C	T	6: 116,470,725 (GRCm39)	P52S	probably benign	Het
Or3a1b	C	A	11: 74,012,650 (GRCm39)	D178E	probably benign	Het
Or4k49	T	C	2: 111,495,234 (GRCm39)	I221T	probably damaging	Het
Or5ac16	T	A	16: 59,022,271 (GRCm39)	I173F	possibly damaging	Het
Pafah1b1	T	C	11: 74,590,177 (GRCm39)		probably benign	Het
Piezo2	C	A	18: 63,211,911 (GRCm39)	M1291I	probably damaging	Het
Pik3ca	T	C	3: 32,498,016 (GRCm39)	F486S	probably benign	Het
Podnl1	C	T	8: 84,853,926 (GRCm39)	H99Y	probably benign	Het
Prdm6	A	T	18: 53,701,233 (GRCm39)	Y341F	probably damaging	Het
Prr5l	C	T	2: 101,588,854 (GRCm39)		probably null	Het
Psmd4	G	T	3: 94,944,012 (GRCm39)	T24N	possibly damaging	Het
Rbbp8nl	G	A	2: 179,922,667 (GRCm39)	T242M	probably benign	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	7: 97,229,113 (GRCm39)		probably benign	Het
Scfd1	T	C	12: 51,469,769 (GRCm39)	V438A	probably benign	Het
Scn9a	A	G	2: 66,314,655 (GRCm39)	C1677R	probably damaging	Het
Sgsm2	T	A	11: 74,782,854 (GRCm39)	H34L	probably damaging	Het
Shank1	T	A	7: 43,993,747 (GRCm39)		probably null	Het
Smarca2	G	T	19: 26,650,124 (GRCm39)	E24*	probably null	Het
Sncaip	C	T	18: 53,004,434 (GRCm39)	H354Y	probably damaging	Het
St8sia2	T	A	7: 73,593,057 (GRCm39)	D333V	probably damaging	Het
Stxbp2	C	A	8: 3,692,672 (GRCm39)	R575S	probably benign	Het
Syt9	T	A	7: 107,024,314 (GRCm39)	V69D	probably damaging	Het
Tanc2	A	G	11: 105,689,558 (GRCm39)	N240S	probably benign	Het
Tcl1b1	T	C	12: 105,130,727 (GRCm39)	L70S	probably benign	Het
Tmem44	C	T	16: 30,362,219 (GRCm39)		probably null	Het
Tor1b	A	G	2: 30,846,931 (GRCm39)	R293G	probably benign	Het
Trim29	T	C	9: 43,222,615 (GRCm39)	V148A	probably benign	Het
Trmt10b	C	A	4: 45,314,378 (GRCm39)	Y271*	probably null	Het
Ubqln5	A	T	7: 103,778,095 (GRCm39)	V243E	possibly damaging	Het
Ubqln5	T	C	7: 103,778,134 (GRCm39)	D230G	probably damaging	Het
Ugt2b37	A	G	5: 87,402,193 (GRCm39)	F146S	probably damaging	Het
Vmn1r160	T	A	7: 22,570,827 (GRCm39)	V60E	probably damaging	Het
Vmn2r109	T	A	17: 20,774,185 (GRCm39)	D390V	probably damaging	Het
Vmn2r27	C	T	6: 124,200,793 (GRCm39)	R388Q	possibly damaging	Het
Vmn2r72	A	T	7: 85,398,369 (GRCm39)	V537D	probably benign	Het
Vmn2r84	A	G	10: 130,226,591 (GRCm39)	S416P	probably damaging	Het
Vmn2r98	C	A	17: 19,285,595 (GRCm39)	Y138*	probably null	Het
Vmn2r-ps158	T	C	7: 42,696,824 (GRCm39)	V620A	probably benign	Het
Xrra1	A	C	7: 99,560,227 (GRCm39)	E401A	probably damaging	Het
Zfp280d	T	A	9: 72,242,362 (GRCm39)	C688*	probably null	Het
Zfp3	T	A	11: 70,662,954 (GRCm39)	Y304*	probably null	Het
Zfp407	A	T	18: 84,577,461 (GRCm39)	D1217E	probably benign	Het
Zfp658	T	C	7: 43,223,245 (GRCm39)	Y507H	possibly damaging	Het
Zfyve16	T	C	13: 92,659,252 (GRCm39)	T220A	possibly damaging	Het
Zmym4	C	G	4: 126,796,463 (GRCm39)	K820N	possibly damaging	Het

Other mutations in Atg7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02969:Atg7	APN	6	114,701,884 (GRCm39)	missense	possibly damaging	0.71
R1460:Atg7	UTSW	6	114,680,325 (GRCm39)	missense	probably damaging	0.99
R1467:Atg7	UTSW	6	114,835,943 (GRCm39)	splice site	probably benign
R1561:Atg7	UTSW	6	114,678,133 (GRCm39)	missense	possibly damaging	0.52
R1755:Atg7	UTSW	6	114,650,638 (GRCm39)	missense	possibly damaging	0.64
R1934:Atg7	UTSW	6	114,678,196 (GRCm39)	missense	probably damaging	0.98
R1964:Atg7	UTSW	6	114,683,191 (GRCm39)	missense	probably damaging	1.00
R2064:Atg7	UTSW	6	114,680,324 (GRCm39)	missense	probably damaging	1.00
R3722:Atg7	UTSW	6	114,672,624 (GRCm39)	missense	probably damaging	0.99
R3870:Atg7	UTSW	6	114,674,008 (GRCm39)	missense	possibly damaging	0.71
R3926:Atg7	UTSW	6	114,650,639 (GRCm39)	missense	possibly damaging	0.81
R4044:Atg7	UTSW	6	114,678,939 (GRCm39)	missense	probably benign	0.00
R4111:Atg7	UTSW	6	114,690,255 (GRCm39)	missense	probably damaging	0.98
R4212:Atg7	UTSW	6	114,680,386 (GRCm39)	missense	probably benign	0.02
R4943:Atg7	UTSW	6	114,674,045 (GRCm39)	missense	probably benign	0.25
R5216:Atg7	UTSW	6	114,701,910 (GRCm39)	missense	probably damaging	0.96
R5465:Atg7	UTSW	6	114,629,493 (GRCm39)	missense	probably benign
R5555:Atg7	UTSW	6	114,679,014 (GRCm39)	missense	probably damaging	1.00
R5618:Atg7	UTSW	6	114,650,660 (GRCm39)	missense	probably damaging	0.99
R5902:Atg7	UTSW	6	114,650,639 (GRCm39)	missense	possibly damaging	0.81
R5903:Atg7	UTSW	6	114,683,254 (GRCm39)	nonsense	probably null
R5980:Atg7	UTSW	6	114,657,197 (GRCm39)	missense	possibly damaging	0.80
R6031:Atg7	UTSW	6	114,648,194 (GRCm39)	missense	probably benign	0.01
R6031:Atg7	UTSW	6	114,648,194 (GRCm39)	missense	probably benign	0.01
R6178:Atg7	UTSW	6	114,701,856 (GRCm39)	missense	probably damaging	1.00
R6702:Atg7	UTSW	6	114,648,058 (GRCm39)	splice site	probably null
R6924:Atg7	UTSW	6	114,686,172 (GRCm39)	critical splice donor site	probably null
R6941:Atg7	UTSW	6	114,650,639 (GRCm39)	missense	possibly damaging	0.81
R7201:Atg7	UTSW	6	114,754,018 (GRCm39)	missense	probably damaging	1.00
R7561:Atg7	UTSW	6	114,650,002 (GRCm39)	missense	possibly damaging	0.80
R8070:Atg7	UTSW	6	114,674,041 (GRCm39)	missense	probably benign	0.03
R8170:Atg7	UTSW	6	114,678,151 (GRCm39)	missense	probably benign	0.11
R8329:Atg7	UTSW	6	114,663,057 (GRCm39)	missense	possibly damaging	0.70
R8367:Atg7	UTSW	6	114,663,060 (GRCm39)	missense	probably benign
R9084:Atg7	UTSW	6	114,678,896 (GRCm39)	missense	probably damaging	1.00
R9221:Atg7	UTSW	6	114,672,588 (GRCm39)	missense	possibly damaging	0.94
R9411:Atg7	UTSW	6	114,690,289 (GRCm39)	missense	probably benign	0.41
R9622:Atg7	UTSW	6	114,654,993 (GRCm39)	missense	probably benign	0.00
Z1088:Atg7	UTSW	6	114,672,647 (GRCm39)	missense	probably benign	0.15
Z1176:Atg7	UTSW	6	114,650,011 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AAAGAGTGGTAGCACTGTGC -3'
(R):5'- CACCCATTGCAGGTTGATGG -3'

Sequencing Primer
(F):5'- CACTGTGCAAAGAGGAATTCC -3'
(R):5'- GTAAAGAGCTCCAGGGCCAC -3'

Posted On

2014-08-01