Mutagenetix > Incidental Mutation

Incidental Mutation 'R2150:Atg4c'

234179

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

040153-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R2150 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99082171-99148024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99109463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 143 (N143K)

Ref Sequence

ENSEMBL: ENSMUSP00000137035 (fasta)

Gene Model

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

AlphaFold

Q811C2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030279
AA Change: N143K

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030279
Gene: ENSMUSG00000028550
AA Change: N143K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152121

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180278
AA Change: N143K

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137035
Gene: ENSMUSG00000028550
AA Change: N143K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

98% (59/60)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	C	T	8: 88,312,691 (GRCm39)	Q159*	probably null	Het
Abca12	C	A	1: 71,302,647 (GRCm39)	V2191L	probably benign	Het
Adam34	A	G	8: 44,105,538 (GRCm39)	Y36H	probably benign	Het
Adprm	A	G	11: 66,929,055 (GRCm39)	V312A	probably benign	Het
Anapc2	T	C	2: 25,162,682 (GRCm39)	L52P	probably benign	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Apoc4	T	A	7: 19,412,560 (GRCm39)	T62S	probably damaging	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgap32	A	G	9: 32,027,436 (GRCm39)	E2G	possibly damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Ccdc63	C	G	5: 122,265,628 (GRCm39)	A71P	possibly damaging	Het
Cdca2	T	C	14: 67,952,258 (GRCm39)	K38E	probably damaging	Het
Cyp2j11	G	A	4: 96,204,595 (GRCm39)	T317I	probably damaging	Het
Dab2	T	C	15: 6,446,398 (GRCm39)	V5A	probably benign	Het
Dennd3	A	T	15: 73,426,909 (GRCm39)	H762L	probably benign	Het
Disp1	A	G	1: 182,869,936 (GRCm39)	F828S	probably damaging	Het
Dnah2	T	C	11: 69,406,587 (GRCm39)	M552V	probably benign	Het
Dock2	A	G	11: 34,179,472 (GRCm39)		probably null	Het
Dsel	A	T	1: 111,787,987 (GRCm39)	N849K	probably benign	Het
Fah	A	T	7: 84,244,042 (GRCm39)	I239N	probably damaging	Het
Flt4	T	C	11: 49,536,824 (GRCm39)	Y1265H	probably benign	Het
Ghdc	T	C	11: 100,660,018 (GRCm39)	E243G	probably benign	Het
Glb1	T	C	9: 114,279,716 (GRCm39)	Y375H	probably damaging	Het
Gm6619	A	G	6: 131,466,021 (GRCm39)	I40V	probably benign	Het
Gpld1	T	C	13: 25,146,630 (GRCm39)	V225A	probably benign	Het
Hectd4	T	C	5: 121,391,921 (GRCm39)		probably benign	Het
Igdcc4	A	G	9: 65,032,617 (GRCm39)	I542V	possibly damaging	Het
Igsf9b	T	C	9: 27,245,633 (GRCm39)	L1200P	probably damaging	Het
Itgb7	C	T	15: 102,130,553 (GRCm39)	V378M	probably damaging	Het
Krt84	T	C	15: 101,438,019 (GRCm39)	E312G	possibly damaging	Het
Man2a2	A	G	7: 80,017,532 (GRCm39)	W250R	probably damaging	Het
Mcam	T	C	9: 44,047,932 (GRCm39)	V59A	probably damaging	Het
Mfrp	T	C	9: 44,015,015 (GRCm39)	L314P	probably benign	Het
Mgat5	T	C	1: 127,396,987 (GRCm39)	V578A	probably damaging	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myh1	A	C	11: 67,113,234 (GRCm39)	D1873A	probably benign	Het
Nek9	A	G	12: 85,376,677 (GRCm39)	W235R	probably damaging	Het
Or9g19	T	C	2: 85,600,342 (GRCm39)	S66P	probably damaging	Het
Parvb	A	G	15: 84,116,369 (GRCm39)	K33E	possibly damaging	Het
Pecr	T	C	1: 72,316,517 (GRCm39)	R63G	possibly damaging	Het
Pkhd1l1	T	G	15: 44,363,378 (GRCm39)		probably null	Het
Plekha5	T	C	6: 140,516,129 (GRCm39)	V270A	probably damaging	Het
Prr14l	T	C	5: 32,988,046 (GRCm39)	D483G	probably benign	Het
Rimkla	T	A	4: 119,331,779 (GRCm39)	M140L	possibly damaging	Het
Senp1	C	T	15: 97,956,196 (GRCm39)	V408I	possibly damaging	Het
Stambpl1	T	A	19: 34,204,104 (GRCm39)	Y65N	probably damaging	Het
Tada2a	T	C	11: 83,970,455 (GRCm39)	D432G	probably damaging	Het
Themis	T	A	10: 28,544,723 (GRCm39)	I23N	probably damaging	Het
Thnsl1	T	C	2: 21,217,344 (GRCm39)	I366T	probably benign	Het
Tmem131	C	A	1: 36,851,690 (GRCm39)	V938L	probably benign	Het
Tmem178b	A	T	6: 40,184,435 (GRCm39)	Q111L	probably damaging	Het
Vmn1r195	C	G	13: 22,462,934 (GRCm39)	L135V	possibly damaging	Het
Vmn2r-ps36	C	T	7: 7,431,539 (GRCm39)		noncoding transcript	Het
Zfp956	G	A	6: 47,940,805 (GRCm39)	R388H	probably damaging	Het
Zfr2	T	G	10: 81,077,950 (GRCm39)	V259G	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
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
R7431:Atg4c	UTSW	4	99,109,632 (GRCm39)	missense	possibly damaging	0.93
R7570:Atg4c	UTSW	4	99,116,797 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- TCCGCCTTTGCACAGATTTG -3'
(R):5'- CAAACTCTATCAGACGATGTAAGC -3'

Sequencing Primer
(F):5'- GCCTTTGCACAGATTTGAGTTTC -3'
(R):5'- ACCAAGAGATGATCTTCCTGTG -3'

Posted On

2014-10-01