Incidental Mutation 'R6660:Atg5'
| ID |
526809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg5
|
| Ensembl Gene |
ENSMUSG00000038160 |
| Gene Name |
autophagy related 5 |
| Synonyms |
3110067M24Rik, 2010107M05Rik, Paddy, Apg5l |
| MMRRC Submission |
044780-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6660 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
44144354-44240287 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44170651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 99
(N99S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039286]
|
| AlphaFold |
Q99J83 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039286
AA Change: N99S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044769
Gene: ENSMUSG00000038160
AA Change: N99S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:APG5
|
79 |
270 |
2.6e-64 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217412
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Two transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutation of this gene results in impaired autophagy due to absence of autolysosomes. Homozygotes die within 1 day of birth, have shorter survival times and reduced amino acid levels under fasting conditions. Homozygotes for a gene trap insertion mutationin this gene show no abnormal phenotype. [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 |
|---|
| Actg1 |
A |
T |
11: 120,237,581 (GRCm39) |
I289N |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,432,663 (GRCm39) |
Q1223R |
probably benign |
Het |
| Cdc42 |
T |
C |
4: 137,056,145 (GRCm39) |
D122G |
probably benign |
Het |
| Cpxm1 |
A |
G |
2: 130,238,069 (GRCm39) |
S127P |
probably damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,140,634 (GRCm39) |
C730R |
possibly damaging |
Het |
| Ddx60 |
T |
A |
8: 62,409,273 (GRCm39) |
H436Q |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,991,014 (GRCm39) |
Y1236C |
probably benign |
Het |
| Ep400 |
G |
A |
5: 110,867,313 (GRCm39) |
R1000* |
probably null |
Het |
| Ergic3 |
A |
G |
2: 155,859,754 (GRCm39) |
I227V |
probably damaging |
Het |
| Fam227b |
G |
T |
2: 125,986,227 (GRCm39) |
P13Q |
probably damaging |
Het |
| Gal |
A |
G |
19: 3,460,108 (GRCm39) |
L121P |
possibly damaging |
Het |
| Garin2 |
T |
C |
12: 78,762,131 (GRCm39) |
V265A |
possibly damaging |
Het |
| Ifi207 |
T |
C |
1: 173,556,972 (GRCm39) |
T589A |
probably benign |
Het |
| Intu |
T |
C |
3: 40,586,100 (GRCm39) |
V27A |
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,111,495 (GRCm39) |
I2249L |
probably benign |
Het |
| Pdc |
T |
C |
1: 150,209,086 (GRCm39) |
Y190H |
probably damaging |
Het |
| Pmm2 |
T |
C |
16: 8,473,506 (GRCm39) |
L240P |
probably damaging |
Het |
| Polr1a |
T |
C |
6: 71,944,358 (GRCm39) |
V1275A |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,701,512 (GRCm39) |
N314I |
possibly damaging |
Het |
| Rpe65 |
A |
T |
3: 159,320,345 (GRCm39) |
N301Y |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,737,770 (GRCm39) |
|
probably null |
Het |
| Sh3bp4 |
A |
G |
1: 89,080,888 (GRCm39) |
S902G |
possibly damaging |
Het |
| Slc44a4 |
A |
T |
17: 35,149,201 (GRCm39) |
R705W |
probably damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,080,747 (GRCm39) |
I325V |
possibly damaging |
Het |
| Spns1 |
A |
G |
7: 125,974,237 (GRCm39) |
|
probably null |
Het |
| Syt6 |
T |
G |
3: 103,532,960 (GRCm39) |
L363R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,544,759 (GRCm39) |
V32781A |
probably benign |
Het |
| Ube2l6 |
A |
G |
2: 84,636,852 (GRCm39) |
T99A |
probably damaging |
Het |
| Unc13b |
A |
T |
4: 43,177,412 (GRCm39) |
|
probably benign |
Het |
| Vmn1r189 |
A |
T |
13: 22,286,066 (GRCm39) |
L257H |
possibly damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Zfpm2 |
T |
C |
15: 40,518,981 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Atg5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Atg5
|
APN |
10 |
44,239,040 (GRCm39) |
missense |
probably benign |
0.00 |
|
P0041:Atg5
|
UTSW |
10 |
44,165,938 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2094:Atg5
|
UTSW |
10 |
44,195,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4906:Atg5
|
UTSW |
10 |
44,239,046 (GRCm39) |
makesense |
probably null |
|
|
R5718:Atg5
|
UTSW |
10 |
44,238,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6194:Atg5
|
UTSW |
10 |
44,170,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7070:Atg5
|
UTSW |
10 |
44,162,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7677:Atg5
|
UTSW |
10 |
44,223,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8302:Atg5
|
UTSW |
10 |
44,162,115 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAAGCCTGTGACAGTGCG -3'
(R):5'- TCAGAAGTGACAGACTATCCAGG -3'
Sequencing Primer
(F):5'- CCTGTGACAGTGCGTGGTAAG -3'
(R):5'- GATCACTTTGAGTCTGAGGCTAACC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation