Mutagenetix > Incidental Mutation

Incidental Mutation 'R7201:Atg7'

560299

Institutional Source

Beutler Lab

Gene Symbol

Atg7

Ensembl Gene

ENSMUSG00000030314

Gene Name

autophagy related 7

Synonyms

1810013K23Rik, Apg7l

MMRRC Submission

045279-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7201 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114620075-114837565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114754018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 724 (H724R)

Ref Sequence

ENSEMBL: ENSMUSP00000133215 (fasta)

Gene Model

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

AlphaFold

Q9D906

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032457
AA Change: H681R

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032457
Gene: ENSMUSG00000030314
AA Change: H681R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000169310
AA Change: H724R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133215
Gene: ENSMUSG00000030314
AA Change: H724R

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: H654R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138779
Gene: ENSMUSG00000030314
AA Change: H654R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182793
AA Change: H681R

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138137
Gene: ENSMUSG00000030314
AA Change: H681R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182902
AA Change: H681R

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138651
Gene: ENSMUSG00000030314
AA Change: H681R

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (80/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,153,300 (GRCm39)	T903A	probably benign	Het
Acin1	A	T	14: 54,902,356 (GRCm39)	S479T	possibly damaging	Het
Actr6	A	T	10: 89,548,374 (GRCm39)	D370E	probably benign	Het
Adgrl3	T	C	5: 81,872,069 (GRCm39)	F921S	probably damaging	Het
Ankmy1	A	T	1: 92,814,546 (GRCm39)	H320Q	possibly damaging	Het
Arhgef5	C	T	6: 43,250,166 (GRCm39)	Q306*	probably null	Het
Art4	A	T	6: 136,831,547 (GRCm39)	V198E	probably benign	Het
Asph	G	A	4: 9,474,917 (GRCm39)	R686W	probably damaging	Het
BC034090	A	G	1: 155,117,680 (GRCm39)	V146A	probably damaging	Het
Bcl2a1d	T	A	9: 88,613,639 (GRCm39)	Q45L	probably damaging	Het
Bmal1	T	A	7: 112,884,349 (GRCm39)	M122K	probably damaging	Het
Cd28	G	T	1: 60,802,332 (GRCm39)	E84*	probably null	Het
Ceacam3	G	A	7: 16,892,163 (GRCm39)	W302*	probably null	Het
Cerkl	T	C	2: 79,163,934 (GRCm39)	N462S	probably benign	Het
Cisd2	A	T	3: 135,116,974 (GRCm39)	L39H	probably damaging	Het
Col11a1	C	A	3: 113,883,806 (GRCm39)	T225K	unknown	Het
Col15a1	A	T	4: 47,307,752 (GRCm39)	Y1178F	possibly damaging	Het
Cul4a	T	C	8: 13,192,991 (GRCm39)	S630P	probably damaging	Het
Cyp2c38	T	A	19: 39,390,220 (GRCm39)	I327F	probably damaging	Het
Cyp3a25	A	C	5: 145,928,257 (GRCm39)	S263A	probably benign	Het
Cyp3a25	T	A	5: 145,939,868 (GRCm39)	L46F	probably benign	Het
Dmrta1	T	A	4: 89,580,408 (GRCm39)	L456*	probably null	Het
Dnah12	T	C	14: 26,536,579 (GRCm39)	L2165P	probably benign	Het
Dsg1a	C	A	18: 20,461,368 (GRCm39)	S253R	probably damaging	Het
Egln2	A	C	7: 26,859,744 (GRCm39)	I323S	probably damaging	Het
Fam171b	A	G	2: 83,708,574 (GRCm39)	T359A	probably damaging	Het
Fcgr2b	G	T	1: 170,790,966 (GRCm39)	Q276K	probably benign	Het
Fcrl2	C	T	3: 87,159,934 (GRCm39)	C440Y	probably damaging	Het
Fmnl2	T	C	2: 52,963,666 (GRCm39)	V266A	unknown	Het
Glo1	A	T	17: 30,816,828 (GRCm39)	D109E	probably benign	Het
Grin3b	A	G	10: 79,809,912 (GRCm39)	R473G	possibly damaging	Het
Ica1	G	A	6: 8,644,015 (GRCm39)	L425F	probably damaging	Het
Iho1	A	T	9: 108,281,974 (GRCm39)	D571E	probably damaging	Het
Ilrun	A	C	17: 28,013,044 (GRCm39)		probably null	Het
Kcnq5	T	C	1: 21,473,099 (GRCm39)	E716G	possibly damaging	Het
Klra17	A	T	6: 129,850,306 (GRCm39)	I48K	possibly damaging	Het
Lrrc66	G	T	5: 73,787,240 (GRCm39)	Q37K	probably benign	Het
Ly6a	T	A	15: 74,868,325 (GRCm39)	T55S	probably benign	Het
Lyst	T	A	13: 13,883,885 (GRCm39)	Y2924*	probably null	Het
Lyzl6	A	G	11: 103,522,177 (GRCm39)	Y140H	probably benign	Het
Mak	T	C	13: 41,204,916 (GRCm39)	I141V	possibly damaging	Het
Mapk7	A	G	11: 61,379,998 (GRCm39)	I789T	probably benign	Het
Mgat4f	A	G	1: 134,318,206 (GRCm39)	D326G	possibly damaging	Het
Mrpl4	T	C	9: 20,918,634 (GRCm39)	I123T	probably benign	Het
Mup18	G	C	4: 61,591,573 (GRCm39)		probably null	Het
Myef2	T	C	2: 124,938,082 (GRCm39)		probably null	Het
Myh7	T	C	14: 55,228,402 (GRCm39)	T235A	possibly damaging	Het
Myo18b	C	T	5: 112,863,325 (GRCm39)	C2171Y	probably damaging	Het
Nat8	A	T	6: 85,807,877 (GRCm39)	Y85*	probably null	Het
Nyap1	A	T	5: 137,734,524 (GRCm39)	S170T	probably damaging	Het
Ogfr	AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,887 (GRCm39)		probably benign	Het
Or10ah1-ps1	A	G	5: 143,123,553 (GRCm39)	Y157H	probably damaging	Het
Or1e32	A	G	11: 73,705,167 (GRCm39)	V247A	probably benign	Het
Or51a25	T	A	7: 102,373,692 (GRCm39)	I2F	probably benign	Het
Papss1	T	C	3: 131,305,687 (GRCm39)	L244P	probably damaging	Het
Pibf1	A	T	14: 99,433,844 (GRCm39)	D597V	probably damaging	Het
Pmpcb	T	A	5: 21,942,177 (GRCm39)	M1K	probably null	Het
Ppwd1	G	A	13: 104,343,680 (GRCm39)	P575L	probably damaging	Het
Pramel17	T	A	4: 101,695,338 (GRCm39)		probably null	Het
Prc1	A	G	7: 79,960,837 (GRCm39)	Q457R	possibly damaging	Het
Prdm10	T	C	9: 31,227,602 (GRCm39)	V69A	possibly damaging	Het
Prkdc	A	G	16: 15,516,667 (GRCm39)	I1014V	probably benign	Het
Rab3gap2	A	G	1: 184,999,388 (GRCm39)	Y999C	probably damaging	Het
Robo3	G	A	9: 37,335,626 (GRCm39)	Q539*	probably null	Het
Rps12	A	G	10: 23,661,129 (GRCm39)	Y127H	probably benign	Het
Sar1b	A	G	11: 51,679,079 (GRCm39)	D116G	probably benign	Het
Selenbp2	C	T	3: 94,609,664 (GRCm39)	P294L	probably benign	Het
Slc6a2	T	C	8: 93,722,300 (GRCm39)	Y516H	probably damaging	Het
Slit2	A	G	5: 48,394,627 (GRCm39)	N673S	probably null	Het
Snap91	A	T	9: 86,672,199 (GRCm39)		probably null	Het
Spata31h1	T	C	10: 82,127,461 (GRCm39)	M1850V	probably benign	Het
Srpk2	A	G	5: 23,712,626 (GRCm39)	F653L	possibly damaging	Het
Supt5	A	T	7: 28,016,213 (GRCm39)	S824T	probably benign	Het
Taar7a	A	G	10: 23,868,358 (GRCm39)	V341A	probably benign	Het
Tmem52	G	A	4: 155,554,778 (GRCm39)	G134R	probably damaging	Het
Ush2a	A	G	1: 188,606,951 (GRCm39)	T3949A	probably benign	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 84,913,681 (GRCm39)		probably null	Het
Vmn1r173	A	T	7: 23,401,583 (GRCm39)		probably benign	Het
Vmn2r118	G	A	17: 55,915,496 (GRCm39)	R485*	probably null	Het
Vwce	A	G	19: 10,615,479 (GRCm39)	E120G	possibly damaging	Het
Zfp143	T	C	7: 109,692,287 (GRCm39)	V566A	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
R1962:Atg7	UTSW	6	114,683,191 (GRCm39)	missense	probably damaging	1.00
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
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'- GCAAGTGCTTGTTAGAAATCAGAACC -3'
(R):5'- GAATGCTAGGAAATCAGCGGCC -3'

Sequencing Primer
(F):5'- TCAGAACCTTTGAAAGCATATCTACC -3'
(R):5'- AATCAGCGGCCAGACTTG -3'

Posted On

2019-06-26