Incidental Mutation 'R5854:Atg4c'
| ID |
454812 |
| 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 |
043228-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R5854 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
99082171-99148024 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99116796 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 313
(V313I)
|
| 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: V313I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030279
Gene: ENSMUSG00000028550
AA Change: V313I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C54
|
76 |
400 |
7.4e-106 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180278
AA Change: V313I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000137035
Gene: ENSMUSG00000028550
AA Change: V313I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C54
|
73 |
402 |
1.4e-119 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,354,594 (GRCm39) |
E1111G |
possibly damaging |
Het |
| Chuk |
T |
C |
19: 44,070,396 (GRCm39) |
H573R |
probably benign |
Het |
| Cst13 |
A |
G |
2: 148,670,094 (GRCm39) |
N88S |
probably benign |
Het |
| Dalrd3 |
T |
C |
9: 108,447,276 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
A |
17: 31,013,737 (GRCm39) |
M3826K |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,351,477 (GRCm39) |
|
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,452,076 (GRCm39) |
L810P |
probably damaging |
Het |
| Fcrlb |
T |
C |
1: 170,735,530 (GRCm39) |
Y248C |
probably damaging |
Het |
| Gmcl1 |
A |
G |
6: 86,691,241 (GRCm39) |
|
silent |
Het |
| Gtf3c3 |
C |
A |
1: 54,458,596 (GRCm39) |
A442S |
probably benign |
Het |
| Hdac4 |
T |
C |
1: 91,887,143 (GRCm39) |
S799G |
probably damaging |
Het |
| Hnrnpa2b1 |
C |
G |
6: 51,443,589 (GRCm39) |
|
probably benign |
Het |
| Hnrnpab |
T |
C |
11: 51,495,508 (GRCm39) |
E177G |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,900,884 (GRCm39) |
I862V |
probably benign |
Het |
| Lonp2 |
T |
A |
8: 87,399,699 (GRCm39) |
|
probably null |
Het |
| Map3k19 |
G |
T |
1: 127,758,092 (GRCm39) |
P363T |
probably damaging |
Het |
| Morn3 |
A |
G |
5: 123,179,178 (GRCm39) |
Y91H |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,158,478 (GRCm39) |
D810G |
probably benign |
Het |
| Nans |
A |
G |
4: 46,500,180 (GRCm39) |
Y188C |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,186,548 (GRCm39) |
D1E |
probably benign |
Het |
| Nelfb |
T |
C |
2: 25,100,005 (GRCm39) |
N204S |
probably damaging |
Het |
| Noxo1 |
T |
C |
17: 24,917,516 (GRCm39) |
S31P |
probably damaging |
Het |
| Or13a20 |
A |
G |
7: 140,232,491 (GRCm39) |
M200V |
probably benign |
Het |
| Or5af1 |
T |
A |
11: 58,722,382 (GRCm39) |
M134K |
probably damaging |
Het |
| Or8b50 |
T |
C |
9: 38,517,959 (GRCm39) |
L66S |
probably damaging |
Het |
| Pkd1l2 |
T |
G |
8: 117,792,485 (GRCm39) |
T436P |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,445,186 (GRCm39) |
D3686G |
probably damaging |
Het |
| Ppp2r5b |
A |
G |
19: 6,280,974 (GRCm39) |
L285S |
probably damaging |
Het |
| Pzp |
A |
T |
6: 128,483,832 (GRCm39) |
V522D |
probably benign |
Het |
| Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
| Rpe65 |
A |
G |
3: 159,321,313 (GRCm39) |
D375G |
probably benign |
Het |
| Sacs |
C |
T |
14: 61,448,996 (GRCm39) |
L3681F |
probably damaging |
Het |
| Sft2d1 |
C |
T |
17: 8,539,485 (GRCm39) |
T96I |
probably damaging |
Het |
| Slc12a7 |
A |
G |
13: 73,942,059 (GRCm39) |
N312D |
probably benign |
Het |
| Spaca6 |
A |
T |
17: 18,051,509 (GRCm39) |
K82* |
probably null |
Het |
| Stk32c |
A |
G |
7: 138,768,195 (GRCm39) |
|
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,193,646 (GRCm39) |
N263Y |
probably damaging |
Het |
| Uxs1 |
T |
C |
1: 43,819,233 (GRCm39) |
N190S |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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 |
|
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'- TGCGCCACATCCTGATAAAG -3'
(R):5'- AGACTCACTGGTCTCCCTTAGC -3'
Sequencing Primer
(F):5'- GCGCCACATCCTGATAAAGATATTTG -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation