Mutagenetix > Incidental Mutation

Incidental Mutation 'R7431:Atg4c'

576453

Institutional Source

Beutler Lab

Gene Symbol

Atg4c

Ensembl Gene

ENSMUSG00000028550

Gene Name

autophagy related 4C, cysteine peptidase

Synonyms

Apg4c, Apg4-C, autophagin 3, Autl1

MMRRC Submission

045509-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R7431 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

99082171-99148024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99109632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 200 (I200F)

Ref Sequence

ENSEMBL: ENSMUSP00000030279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030279] [ENSMUST00000180278]

AlphaFold

Q811C2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030279
AA Change: I200F

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030279
Gene: ENSMUSG00000028550
AA Change: I200F

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C54	76	400	7.4e-106	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180278
AA Change: I200F

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137035
Gene: ENSMUSG00000028550
AA Change: I200F

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C54	73	402	1.4e-119	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

97% (77/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. Alternate transcriptional splice variants, encoding the same protein, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show a higher incidence of chemically-induced fibrosarcomas, and exhibit both a significant reduction of autophagic activity in the diaphragm muscle as well as decreased locomotor activity after prolonged starvation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	CA	C	11: 110,018,252 (GRCm39)		probably null	Het
Abcf3	G	T	16: 20,377,539 (GRCm39)	R510L	probably benign	Het
Abcg4	T	A	9: 44,185,997 (GRCm39)	I625F	possibly damaging	Het
Adam22	A	T	5: 8,142,818 (GRCm39)	S806T	probably damaging	Het
Adcy4	T	C	14: 56,010,129 (GRCm39)	I718V	probably benign	Het
Adgb	A	T	10: 10,267,699 (GRCm39)		probably null	Het
Aldoart1	T	A	4: 72,769,678 (GRCm39)	K377*	probably null	Het
Apc2	T	A	10: 80,138,017 (GRCm39)	V100E	possibly damaging	Het
Asxl3	T	G	18: 22,650,010 (GRCm39)	D666E	probably damaging	Het
Atp1a4	A	G	1: 172,078,474 (GRCm39)	F255L	probably benign	Het
Bod1l	A	C	5: 41,970,463 (GRCm39)		probably null	Het
Cacna2d4	A	T	6: 119,221,237 (GRCm39)	T250S	probably damaging	Het
Ccdc202	A	G	14: 96,119,273 (GRCm39)	H10R	probably benign	Het
Ccng1	G	A	11: 40,644,745 (GRCm39)	R51W	possibly damaging	Het
Chd6	T	C	2: 160,868,248 (GRCm39)	E366G	possibly damaging	Het
Clca4b	A	T	3: 144,616,894 (GRCm39)	S919T	probably benign	Het
Col5a3	T	C	9: 20,682,131 (GRCm39)	*1740W	probably null	Het
Col6a5	A	T	9: 105,805,468 (GRCm39)	I1146K	unknown	Het
Cpxm1	T	C	2: 130,235,966 (GRCm39)	T399A	probably benign	Het
Cpz	T	C	5: 35,668,486 (GRCm39)	T375A	probably benign	Het
Cyp2b13	T	A	7: 25,760,976 (GRCm39)	V11D	probably damaging	Het
Cyp39a1	A	G	17: 43,993,906 (GRCm39)	T189A	probably benign	Het
Desi2	C	T	1: 178,084,007 (GRCm39)	Q52*	probably null	Het
Dhx15	A	G	5: 52,319,953 (GRCm39)	V418A	probably damaging	Het
Dnah3	T	A	7: 119,650,967 (GRCm39)	M978L	probably damaging	Het
Dpagt1	T	A	9: 44,237,384 (GRCm39)	C17*	probably null	Het
Dph5	A	T	3: 115,686,381 (GRCm39)	K52N	possibly damaging	Het
Dpp4	G	T	2: 62,182,582 (GRCm39)	N566K	probably benign	Het
Elavl4	T	C	4: 110,083,830 (GRCm39)	Y94C	probably damaging	Het
Fat2	G	A	11: 55,199,927 (GRCm39)	T1049I	probably damaging	Het
Fat4	T	A	3: 39,063,306 (GRCm39)	Y4421N	possibly damaging	Het
Fcrl2	C	A	3: 87,166,233 (GRCm39)	A181S	probably damaging	Het
Garre1	T	C	7: 33,984,219 (GRCm39)	I135V	possibly damaging	Het
Glg1	G	T	8: 111,887,386 (GRCm39)	N456K	unknown	Het
Gm10228	A	G	16: 88,838,101 (GRCm39)	S68P	unknown	Het
Golga4	G	A	9: 118,388,799 (GRCm39)	E1974K	probably damaging	Het
Heatr9	G	T	11: 83,410,094 (GRCm39)	P49Q	probably damaging	Het
Hmgxb3	A	T	18: 61,280,517 (GRCm39)	V662D	probably damaging	Het
Hs3st4	T	C	7: 123,582,513 (GRCm39)	L37P	probably damaging	Het
Ifi205	A	T	1: 173,855,943 (GRCm39)	M29K	probably benign	Het
Igkv1-35	C	T	6: 69,987,988 (GRCm39)	V103M	probably damaging	Het
Klf13	T	A	7: 63,541,504 (GRCm39)	K208*	probably null	Het
Klhl36	A	G	8: 120,597,121 (GRCm39)	N274S	probably benign	Het
Mosmo	T	A	7: 120,329,873 (GRCm39)	L165I	probably benign	Het
Mtcl1	G	A	17: 66,649,901 (GRCm39)	Q1855*	probably null	Het
Muc16	A	G	9: 18,519,289 (GRCm39)	V208A		Het
Nin	T	G	12: 70,124,997 (GRCm39)	R108S		Het
Odad1	T	G	7: 45,578,670 (GRCm39)	L81R	probably damaging	Het
Or13c7d	T	C	4: 43,770,882 (GRCm39)	N43S	probably damaging	Het
Polr1a	G	A	6: 71,903,643 (GRCm39)	V319I	probably benign	Het
Pramel7	A	G	2: 87,320,282 (GRCm39)	V337A	possibly damaging	Het
Prkar2b	A	T	12: 32,013,150 (GRCm39)		probably null	Het
R3hdm2	T	A	10: 127,294,016 (GRCm39)	M170K	probably benign	Het
Rbm26	A	G	14: 105,354,528 (GRCm39)	I919T	possibly damaging	Het
Rimkla	A	G	4: 119,335,008 (GRCm39)	M125T	probably benign	Het
Sag	T	A	1: 87,749,059 (GRCm39)	F153I	possibly damaging	Het
Sbf2	G	T	7: 109,950,957 (GRCm39)	D1163E	probably damaging	Het
Scgb2b24	T	C	7: 33,438,674 (GRCm39)	I13V	probably benign	Het
Scin	G	A	12: 40,183,921 (GRCm39)	H63Y	probably damaging	Het
Sele	A	G	1: 163,879,189 (GRCm39)	T275A	probably damaging	Het
Slc22a15	T	A	3: 101,805,256 (GRCm39)	T144S	probably benign	Het
Slc8a1	T	A	17: 81,749,092 (GRCm39)	K650I	probably benign	Het
Slc9c1	G	T	16: 45,413,847 (GRCm39)	V992F	probably damaging	Het
Spag16	A	T	1: 69,963,031 (GRCm39)	T393S	unknown	Het
Taf15	G	A	11: 83,395,779 (GRCm39)	D495N	unknown	Het
Tas2r144	T	A	6: 42,192,908 (GRCm39)	I216N	probably damaging	Het
Tbccd1	G	T	16: 22,644,563 (GRCm39)	P271Q	probably benign	Het
Tcf4	C	A	18: 69,480,249 (GRCm39)		probably null	Het
Thap4	A	T	1: 93,678,223 (GRCm39)	S188T	probably benign	Het
Trank1	T	C	9: 111,191,470 (GRCm39)	V493A	probably benign	Het
Trip11	A	G	12: 101,850,278 (GRCm39)	V1262A	possibly damaging	Het
Tspan2	T	A	3: 102,657,107 (GRCm39)	W35R	probably damaging	Het
Usp39	G	T	6: 72,313,251 (GRCm39)	T313N	possibly damaging	Het
Vmn2r83	T	A	10: 79,327,306 (GRCm39)	L638Q	probably damaging	Het
Vps29	T	C	5: 122,492,541 (GRCm39)	V2A	probably benign	Het
Wrap53	A	G	11: 69,469,313 (GRCm39)	F148L	possibly damaging	Het
Znfx1	T	C	2: 166,897,712 (GRCm39)	Y404C	probably damaging	Het
Zrsr2-ps1	A	G	11: 22,923,580 (GRCm39)	E118G	probably benign	Het

Other mutations in Atg4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01559:Atg4c	APN	4	99,106,440 (GRCm39)	splice site	probably benign
IGL02969:Atg4c	APN	4	99,146,624 (GRCm39)	splice site	probably benign
IGL03233:Atg4c	APN	4	99,117,740 (GRCm39)	missense	probably benign	0.06
R0083:Atg4c	UTSW	4	99,109,677 (GRCm39)	missense	possibly damaging	0.74
R0108:Atg4c	UTSW	4	99,109,677 (GRCm39)	missense	possibly damaging	0.74
R0485:Atg4c	UTSW	4	99,112,719 (GRCm39)	missense	probably benign	0.13
R1488:Atg4c	UTSW	4	99,109,479 (GRCm39)	missense	probably damaging	1.00
R1983:Atg4c	UTSW	4	99,116,812 (GRCm39)	missense	probably damaging	1.00
R2036:Atg4c	UTSW	4	99,106,376 (GRCm39)	missense	possibly damaging	0.89
R2146:Atg4c	UTSW	4	99,109,463 (GRCm39)	missense	possibly damaging	0.89
R2148:Atg4c	UTSW	4	99,109,463 (GRCm39)	missense	possibly damaging	0.89
R2150:Atg4c	UTSW	4	99,109,463 (GRCm39)	missense	possibly damaging	0.89
R5715:Atg4c	UTSW	4	99,146,639 (GRCm39)	missense	probably damaging	1.00
R5854:Atg4c	UTSW	4	99,116,796 (GRCm39)	missense	probably benign
R6157:Atg4c	UTSW	4	99,123,400 (GRCm39)	nonsense	probably null
R7570:Atg4c	UTSW	4	99,116,797 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- TGAGAACGCAGACTCTGACTC -3'
(R):5'- GCTTTCATGGAGCTGCTCTTAAG -3'

Sequencing Primer
(F):5'- GCAGACTCTGACTCATGGAC -3'
(R):5'- CTCAGTCAAAGTTGGTATTTCCCAG -3'

Posted On

2019-10-07