Incidental Mutation 'IGL02969:Atg4c'
ID |
365751 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Atg4c
|
Ensembl Gene |
ENSMUSG00000028550 |
Gene Name |
autophagy related 4C, cysteine peptidase |
Synonyms |
Apg4c, Apg4-C, autophagin 3, Autl1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.071)
|
Stock # |
IGL02969
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
99082171-99148024 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 99146624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137035
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030279]
[ENSMUST00000180278]
|
AlphaFold |
Q811C2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030279
|
SMART Domains |
Protein: ENSMUSP00000030279 Gene: ENSMUSG00000028550
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C54
|
76 |
400 |
7.4e-106 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180278
|
SMART Domains |
Protein: ENSMUSP00000137035 Gene: ENSMUSG00000028550
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C54
|
73 |
402 |
1.4e-119 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
A |
G |
8: 79,946,866 (GRCm39) |
|
probably benign |
Het |
Acsbg3 |
A |
T |
17: 57,190,751 (GRCm39) |
T440S |
probably damaging |
Het |
Akap12 |
T |
A |
10: 4,304,864 (GRCm39) |
V558E |
probably damaging |
Het |
Atg7 |
T |
A |
6: 114,701,884 (GRCm39) |
N673K |
possibly damaging |
Het |
Brpf3 |
A |
G |
17: 29,040,279 (GRCm39) |
D900G |
probably benign |
Het |
C2cd5 |
T |
C |
6: 143,025,669 (GRCm39) |
Y176C |
probably damaging |
Het |
Cep70 |
A |
T |
9: 99,180,557 (GRCm39) |
I571F |
possibly damaging |
Het |
Cir1 |
C |
T |
2: 73,134,120 (GRCm39) |
G150R |
probably null |
Het |
Cyp46a1 |
T |
C |
12: 108,309,296 (GRCm39) |
V68A |
probably damaging |
Het |
Dlgap2 |
A |
G |
8: 14,881,579 (GRCm39) |
T883A |
possibly damaging |
Het |
Dnah2 |
C |
A |
11: 69,412,013 (GRCm39) |
K249N |
possibly damaging |
Het |
Dnajc11 |
A |
G |
4: 152,062,503 (GRCm39) |
K434R |
probably benign |
Het |
Eri3 |
A |
G |
4: 117,506,508 (GRCm39) |
Y279C |
probably damaging |
Het |
Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
Ilk |
A |
G |
7: 105,389,547 (GRCm39) |
K85E |
possibly damaging |
Het |
Insrr |
G |
T |
3: 87,721,498 (GRCm39) |
G1135* |
probably null |
Het |
Itgax |
T |
A |
7: 127,748,295 (GRCm39) |
M1108K |
probably benign |
Het |
Mpzl3 |
C |
T |
9: 44,979,514 (GRCm39) |
T155I |
probably benign |
Het |
Or4f57 |
A |
T |
2: 111,790,912 (GRCm39) |
C169S |
probably damaging |
Het |
Or6c212 |
A |
T |
10: 129,559,065 (GRCm39) |
M116K |
probably damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Polr2h |
A |
G |
16: 20,537,807 (GRCm39) |
Y68C |
probably damaging |
Het |
Pramel47 |
C |
T |
5: 95,489,258 (GRCm39) |
P234S |
probably benign |
Het |
Rhobtb3 |
A |
G |
13: 76,091,550 (GRCm39) |
S2P |
probably damaging |
Het |
Slc24a5 |
T |
C |
2: 124,925,147 (GRCm39) |
S263P |
probably damaging |
Het |
Spz1 |
T |
G |
13: 92,711,851 (GRCm39) |
K208N |
possibly damaging |
Het |
Tbpl2 |
C |
A |
2: 23,981,105 (GRCm39) |
C231F |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,938,440 (GRCm39) |
I869M |
probably damaging |
Het |
Tesk1 |
G |
A |
4: 43,447,027 (GRCm39) |
E472K |
possibly damaging |
Het |
Tesk1 |
C |
A |
4: 43,447,026 (GRCm39) |
C471* |
probably null |
Het |
Thoc2l |
C |
T |
5: 104,667,209 (GRCm39) |
T577I |
probably benign |
Het |
Tmem213 |
T |
A |
6: 38,092,601 (GRCm39) |
V111E |
probably damaging |
Het |
Tmem232 |
A |
T |
17: 65,563,558 (GRCm39) |
Y612N |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,729,707 (GRCm39) |
|
probably benign |
Het |
Vmn2r113 |
G |
A |
17: 23,177,591 (GRCm39) |
V792I |
probably benign |
Het |
Wdfy1 |
A |
G |
1: 79,691,588 (GRCm39) |
V273A |
probably benign |
Het |
Wwp1 |
A |
G |
4: 19,623,200 (GRCm39) |
S762P |
probably damaging |
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 |
|
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 |
|
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 |
|
Posted On |
2015-12-18 |