Incidental Mutation 'R0108:Atg4c'
| ID |
17697 |
| 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 |
038394-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R0108 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
99082171-99148024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 99109677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 215
(H215Y)
|
| 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: H215Y
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000030279
Gene: ENSMUSG00000028550
AA Change: H215Y
| 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: H215Y
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000137035
Gene: ENSMUSG00000028550
AA Change: H215Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C54
|
73 |
402 |
1.4e-119 |
PFAM |
|
| Meta Mutation Damage Score |
0.8051 |
| Coding Region Coverage |
- 1x: 87.1%
- 3x: 81.7%
- 10x: 58.7%
- 20x: 25.7%
|
| Validation Efficiency |
90% (92/102) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,224,692 (GRCm39) |
N910K |
probably benign |
Het |
| Ackr4 |
T |
A |
9: 103,976,387 (GRCm39) |
I187F |
probably benign |
Het |
| Adamts12 |
T |
C |
15: 11,311,184 (GRCm39) |
V1147A |
probably benign |
Het |
| Adcy2 |
A |
T |
13: 68,800,054 (GRCm39) |
V858E |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,726,523 (GRCm39) |
|
probably benign |
Het |
| Ccdc88a |
T |
A |
11: 29,453,463 (GRCm39) |
S337T |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,111,702 (GRCm39) |
E1996G |
probably damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,767,887 (GRCm39) |
T903A |
probably benign |
Het |
| Frem2 |
G |
T |
3: 53,555,382 (GRCm39) |
D1718E |
probably benign |
Het |
| Gatad2b |
T |
A |
3: 90,265,250 (GRCm39) |
Y576N |
probably damaging |
Het |
| Gm136 |
G |
T |
4: 34,746,593 (GRCm39) |
H139Q |
possibly damaging |
Het |
| Helq |
C |
A |
5: 100,916,234 (GRCm39) |
E913* |
probably null |
Het |
| Itgb7 |
C |
T |
15: 102,131,917 (GRCm39) |
R222H |
probably damaging |
Het |
| Lmtk2 |
C |
T |
5: 144,111,103 (GRCm39) |
R608C |
possibly damaging |
Het |
| Lonp2 |
G |
A |
8: 87,442,983 (GRCm39) |
V815I |
probably benign |
Het |
| Mpdz |
C |
T |
4: 81,300,042 (GRCm39) |
V319I |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,759,071 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,096,882 (GRCm39) |
T1364A |
probably damaging |
Het |
| Or10q1b |
A |
T |
19: 13,683,042 (GRCm39) |
T284S |
probably damaging |
Het |
| Pcdha1 |
T |
A |
18: 37,131,809 (GRCm39) |
W293R |
probably benign |
Het |
| Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
| Plekho2 |
A |
T |
9: 65,466,705 (GRCm39) |
D128E |
probably damaging |
Het |
| Pstpip1 |
A |
G |
9: 56,035,050 (GRCm39) |
E341G |
probably benign |
Het |
| Rps6ka2 |
G |
A |
17: 7,563,442 (GRCm39) |
D617N |
probably benign |
Het |
| Scin |
A |
G |
12: 40,177,986 (GRCm39) |
V83A |
possibly damaging |
Het |
| Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
| Sel1l3 |
C |
T |
5: 53,295,244 (GRCm39) |
A786T |
possibly damaging |
Het |
| Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
| Slc30a5 |
G |
T |
13: 100,939,908 (GRCm39) |
A669E |
probably damaging |
Het |
| Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
| Ttll4 |
G |
T |
1: 74,718,928 (GRCm39) |
V260L |
probably benign |
Het |
| Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
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 |
|
|
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 |
|
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 |
2013-01-31 |
Incidental Mutation