Mutagenetix > Incidental Mutation

Incidental Mutation 'R9221:Atg7'

699459

Institutional Source

Beutler Lab

Gene Symbol

Atg7

Ensembl Gene

ENSMUSG00000030314

Gene Name

autophagy related 7

Synonyms

1810013K23Rik, Apg7l

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9221 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114620075-114837565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 114672588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 267 (T267I)

Ref Sequence

ENSEMBL: ENSMUSP00000133215 (fasta)

Gene Model

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

AlphaFold

Q9D906

Predicted Effect

probably benign
Transcript: ENSMUST00000032457
AA Change: T224I

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000032457
Gene: ENSMUSG00000030314
AA Change: T224I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169310
AA Change: T267I

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133215
Gene: ENSMUSG00000030314
AA Change: T267I

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

possibly damaging
Transcript: ENSMUST00000182428
AA Change: T224I

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138779
Gene: ENSMUSG00000030314
AA Change: T224I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000182793
AA Change: T224I

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138137
Gene: ENSMUSG00000030314
AA Change: T224I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000182902
AA Change: T224I

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138651
Gene: ENSMUSG00000030314
AA Change: T224I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000183165
AA Change: T185I

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000138600
Gene: ENSMUSG00000030314
AA Change: T185I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,921,828 (GRCm39)	D1128G	probably damaging	Het
Acsm3	A	T	7: 119,368,131 (GRCm39)	R116*	probably null	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,989,943 (GRCm39)	D3742E	probably damaging	Het
Arhgef17	A	G	7: 100,528,818 (GRCm39)	S598P	possibly damaging	Het
Asxl2	T	C	12: 3,552,310 (GRCm39)	F1351L	probably damaging	Het
Bace2	A	G	16: 97,209,692 (GRCm39)	K202R	probably benign	Het
Bccip	G	T	7: 133,311,249 (GRCm39)	V55L	probably benign	Het
Bpifa1	T	A	2: 153,988,052 (GRCm39)	H198Q	possibly damaging	Het
Btbd7	A	G	12: 102,777,430 (GRCm39)	Y466H	probably damaging	Het
Cdc45	A	C	16: 18,605,521 (GRCm39)	S480A	probably benign	Het
Cenpe	T	C	3: 134,935,839 (GRCm39)	Y425H	possibly damaging	Het
Cep76	A	C	18: 67,767,977 (GRCm39)	M185R	probably damaging	Het
Chd5	G	T	4: 152,456,122 (GRCm39)	M930I	probably damaging	Het
Clstn2	G	T	9: 97,343,395 (GRCm39)	T684K	probably benign	Het
Col4a2	A	G	8: 11,491,943 (GRCm39)	N1270S	possibly damaging	Het
Crxos	A	G	7: 15,636,850 (GRCm39)	H141R	probably benign	Het
Dcc	A	G	18: 71,553,433 (GRCm39)	I741T	possibly damaging	Het
Ddx20	A	T	3: 105,587,685 (GRCm39)	C430*	probably null	Het
Dgki	G	A	6: 37,273,615 (GRCm39)	T12M	probably benign	Het
Dock6	T	C	9: 21,721,153 (GRCm39)	N1676S	possibly damaging	Het
Exosc6	G	A	8: 111,783,028 (GRCm39)	R9H	probably damaging	Het
Fstl5	A	G	3: 76,569,114 (GRCm39)	Q589R	probably damaging	Het
Gm4846	T	A	1: 166,324,959 (GRCm39)	Y44F	probably benign	Het
Gpr15lg	A	G	14: 36,829,352 (GRCm39)	S44P	probably damaging	Het
Gtf3c2	A	C	5: 31,326,401 (GRCm39)	I370R	probably damaging	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hspg2	A	G	4: 137,287,726 (GRCm39)	M3696V	possibly damaging	Het
Itga1	A	T	13: 115,166,695 (GRCm39)	C167*	probably null	Het
Khdc4	T	C	3: 88,593,853 (GRCm39)	S81P	probably benign	Het
Kpna2	A	G	11: 106,880,158 (GRCm39)	S497P	probably damaging	Het
Krt77	T	A	15: 101,774,064 (GRCm39)	T197S	probably damaging	Het
Krtap6-5	T	C	16: 88,844,655 (GRCm39)	Y26C	unknown	Het
Lhfpl5	A	T	17: 28,799,133 (GRCm39)	D214V	possibly damaging	Het
Lrrtm1	A	G	6: 77,221,596 (GRCm39)	E351G	probably damaging	Het
Mphosph9	A	G	5: 124,403,427 (GRCm39)	V867A	probably benign	Het
Mtcl1	T	A	17: 66,650,879 (GRCm39)	M1529L	probably benign	Het
Mthfr	A	T	4: 148,132,626 (GRCm39)	Q268L	probably damaging	Het
Myo1d	A	T	11: 80,565,744 (GRCm39)	N360K	probably damaging	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Or1e33	A	T	11: 73,738,108 (GRCm39)	V281E	probably damaging	Het
Or4p8	T	C	2: 88,727,255 (GRCm39)	S229G	probably benign	Het
Or5an1b	A	T	19: 12,299,336 (GRCm39)	M285K	probably damaging	Het
Or5m11	T	A	2: 85,782,185 (GRCm39)	Y259*	probably null	Het
P2rx5	A	T	11: 73,062,655 (GRCm39)	T455S	probably damaging	Het
Palld	A	T	8: 61,969,591 (GRCm39)	F1244L	unknown	Het
Pbld1	A	G	10: 62,907,829 (GRCm39)	T125A		Het
Pde3b	G	A	7: 114,014,697 (GRCm39)		probably benign	Het
Pfkm	T	C	15: 98,019,188 (GRCm39)	S180P	probably damaging	Het
Pla2g4d	T	A	2: 120,100,453 (GRCm39)	R626S	possibly damaging	Het
Postn	A	G	3: 54,282,515 (GRCm39)	E492G	possibly damaging	Het
Prph2	A	G	17: 47,230,818 (GRCm39)	D237G	probably damaging	Het
Psmd4	T	C	3: 94,942,604 (GRCm39)	H105R	probably damaging	Het
Pygl	T	C	12: 70,242,401 (GRCm39)	N685S	probably damaging	Het
Rp1	A	G	1: 4,315,266 (GRCm39)	F502S	unknown	Het
Sik1	T	C	17: 32,066,167 (GRCm39)	I607V	probably benign	Het
Slc26a3	T	A	12: 31,513,470 (GRCm39)	I464N	possibly damaging	Het
Slc38a9	A	G	13: 112,825,910 (GRCm39)	N116S	probably damaging	Het
Sorcs2	C	A	5: 36,181,910 (GRCm39)		probably null	Het
Spink5	T	C	18: 44,119,367 (GRCm39)	L226P	probably damaging	Het
Tab1	G	A	15: 80,034,754 (GRCm39)	V180I	probably benign	Het
Tacc2	T	G	7: 130,226,058 (GRCm39)	S914R	probably damaging	Het
Tacc2	C	T	7: 130,226,209 (GRCm39)	R965C	probably benign	Het
Tlr9	A	G	9: 106,101,972 (GRCm39)	D421G	probably damaging	Het
Tmem181a	T	C	17: 6,307,265 (GRCm39)	L16P	probably damaging	Het
Trim58	A	T	11: 58,542,075 (GRCm39)	H345L	probably damaging	Het
Ttc13	G	A	8: 125,400,290 (GRCm39)	R688C	probably benign	Het
Ube2o	C	A	11: 116,433,664 (GRCm39)	V685L	probably damaging	Het
Uso1	A	G	5: 92,335,173 (GRCm39)	H511R	probably benign	Het
Vmn2r5	A	T	3: 64,411,721 (GRCm39)	Y282*	probably null	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
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
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'- GGAGATGTTCCAGTTTCTGCC -3'
(R):5'- TAGCAGACCTGTTTAAGAGCACC -3'

Sequencing Primer
(F):5'- CCTTTTGTCTAGGGTGAGATCCTAAG -3'
(R):5'- CCTGTTTAAGAGCACCAGAGATAG -3'

Posted On

2022-02-07