Incidental Mutation 'IGL03233:Atg4c'
ID |
413958 |
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 # |
IGL03233
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
99082171-99148024 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 99117740 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 343
(Y343F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137035
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030279]
[ENSMUST00000180278]
|
AlphaFold |
Q811C2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030279
AA Change: Y343F
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000030279 Gene: ENSMUSG00000028550 AA Change: Y343F
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_C54
|
76 |
400 |
7.4e-106 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180278
AA Change: Y343F
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000137035 Gene: ENSMUSG00000028550 AA Change: Y343F
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl1 |
T |
C |
4: 86,260,357 (GRCm39) |
F856S |
probably damaging |
Het |
Ak7 |
A |
G |
12: 105,727,739 (GRCm39) |
D457G |
probably damaging |
Het |
Ankrd26 |
G |
T |
6: 118,512,107 (GRCm39) |
|
probably null |
Het |
Ano5 |
C |
A |
7: 51,220,116 (GRCm39) |
P405T |
probably damaging |
Het |
Asah2 |
T |
A |
19: 32,032,031 (GRCm39) |
N46I |
probably benign |
Het |
Cab39 |
T |
A |
1: 85,770,044 (GRCm39) |
M175K |
probably benign |
Het |
Cadps2 |
T |
C |
6: 23,263,600 (GRCm39) |
E1257G |
probably benign |
Het |
Ces1d |
A |
G |
8: 93,921,707 (GRCm39) |
Y19H |
probably benign |
Het |
Cst6 |
T |
C |
19: 5,399,289 (GRCm39) |
D25G |
probably damaging |
Het |
Cyp4a30b |
A |
T |
4: 115,316,167 (GRCm39) |
T298S |
probably benign |
Het |
Dgkk |
T |
C |
X: 6,770,077 (GRCm39) |
L352P |
probably damaging |
Het |
Dnai7 |
A |
T |
6: 145,127,611 (GRCm39) |
Y433N |
probably damaging |
Het |
Dync2h1 |
A |
C |
9: 7,101,525 (GRCm39) |
F482V |
possibly damaging |
Het |
Esco1 |
A |
G |
18: 10,574,877 (GRCm39) |
W208R |
probably damaging |
Het |
Fbn2 |
T |
C |
18: 58,235,449 (GRCm39) |
D676G |
probably benign |
Het |
Foxp3 |
T |
C |
X: 7,453,662 (GRCm39) |
|
probably benign |
Het |
Gpr108 |
T |
A |
17: 57,552,042 (GRCm39) |
I123F |
probably benign |
Het |
Gsdmc4 |
A |
T |
15: 63,774,709 (GRCm39) |
V24E |
probably damaging |
Het |
Jam3 |
C |
A |
9: 27,013,217 (GRCm39) |
V118F |
probably damaging |
Het |
Kif23 |
T |
A |
9: 61,833,735 (GRCm39) |
I489F |
probably benign |
Het |
Lama3 |
T |
A |
18: 12,614,095 (GRCm39) |
V1288D |
probably damaging |
Het |
Mark2 |
G |
T |
19: 7,262,091 (GRCm39) |
H308N |
possibly damaging |
Het |
Mms19 |
T |
C |
19: 41,935,352 (GRCm39) |
|
probably null |
Het |
Neb |
A |
T |
2: 52,198,313 (GRCm39) |
I477N |
possibly damaging |
Het |
Npm1 |
G |
T |
11: 33,106,717 (GRCm39) |
Q204K |
probably benign |
Het |
Nsun5 |
G |
A |
5: 135,404,299 (GRCm39) |
V369M |
probably damaging |
Het |
Or7a39 |
C |
A |
10: 78,715,406 (GRCm39) |
Y133* |
probably null |
Het |
Pcdhb13 |
T |
A |
18: 37,577,318 (GRCm39) |
N565K |
probably damaging |
Het |
Pla2r1 |
A |
G |
2: 60,258,924 (GRCm39) |
F1155L |
possibly damaging |
Het |
Pus10 |
T |
A |
11: 23,662,241 (GRCm39) |
W304R |
probably damaging |
Het |
Rab32 |
G |
A |
10: 10,422,057 (GRCm39) |
Q221* |
probably null |
Het |
Rlf |
A |
G |
4: 121,039,797 (GRCm39) |
|
probably benign |
Het |
Robo1 |
A |
T |
16: 72,767,081 (GRCm39) |
I418F |
probably damaging |
Het |
Slc44a2 |
T |
C |
9: 21,259,918 (GRCm39) |
I642T |
possibly damaging |
Het |
Ston2 |
T |
A |
12: 91,614,627 (GRCm39) |
T594S |
probably damaging |
Het |
Szt2 |
T |
C |
4: 118,229,726 (GRCm39) |
T2802A |
unknown |
Het |
Tshz3 |
T |
A |
7: 36,469,504 (GRCm39) |
Y498N |
probably damaging |
Het |
Zfp280b |
T |
A |
10: 75,875,603 (GRCm39) |
I494N |
probably damaging |
Het |
Zfp281 |
A |
G |
1: 136,554,567 (GRCm39) |
Q515R |
possibly 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 |
|
IGL02969:Atg4c
|
APN |
4 |
99,146,624 (GRCm39) |
splice site |
probably benign |
|
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 |
2016-08-02 |