Incidental Mutation 'R1329:Atg101'
| ID |
156126 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atg101
|
| Ensembl Gene |
ENSMUSG00000037204 |
| Gene Name |
autophagy related 101 |
| Synonyms |
9430023L20Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.307)
|
| Stock # |
R1329 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101182182-101188855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 101188171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 92
(G92D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154855
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048393]
[ENSMUST00000071328]
[ENSMUST00000191426]
[ENSMUST00000229525]
[ENSMUST00000230525]
|
| AlphaFold |
Q9D8Z6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048393
AA Change: G92D
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000045474
Gene: ENSMUSG00000037204
AA Change: G92D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1649
|
9 |
172 |
4.6e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071328
|
| SMART Domains |
Protein: ENSMUSP00000071291
Gene: ENSMUSG00000075408
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
37 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071328
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191426
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000229525
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230525
AA Change: G92D
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
C |
T |
4: 152,314,241 (GRCm39) |
Q188* |
probably null |
Het |
| Ano5 |
T |
C |
7: 51,196,533 (GRCm39) |
Y141H |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 95,804,434 (GRCm39) |
I1912T |
probably benign |
Het |
| Cad |
G |
T |
5: 31,216,926 (GRCm39) |
G263W |
probably damaging |
Het |
| Clstn2 |
T |
C |
9: 97,340,227 (GRCm39) |
E715G |
probably damaging |
Het |
| Cracd |
A |
G |
5: 76,805,779 (GRCm39) |
|
probably benign |
Het |
| Dbp |
C |
T |
7: 45,357,752 (GRCm39) |
P70S |
probably damaging |
Het |
| Fem1al |
T |
A |
11: 29,773,553 (GRCm39) |
N635Y |
probably benign |
Het |
| Gpr61 |
T |
A |
3: 108,057,830 (GRCm39) |
H277L |
probably benign |
Het |
| Gsdma3 |
G |
T |
11: 98,523,218 (GRCm39) |
V203F |
probably damaging |
Het |
| Ifih1 |
G |
C |
2: 62,447,831 (GRCm39) |
|
probably null |
Het |
| Myo1e |
T |
A |
9: 70,246,020 (GRCm39) |
C404S |
possibly damaging |
Het |
| Myrfl |
A |
G |
10: 116,613,247 (GRCm39) |
|
probably null |
Het |
| Nfat5 |
T |
G |
8: 108,095,659 (GRCm39) |
M1300R |
probably benign |
Het |
| Nfrkb |
C |
T |
9: 31,325,943 (GRCm39) |
P1129S |
possibly damaging |
Het |
| Nubp2 |
A |
T |
17: 25,102,838 (GRCm39) |
N208K |
possibly damaging |
Het |
| Or8g20 |
A |
G |
9: 39,395,740 (GRCm39) |
S270P |
probably damaging |
Het |
| Ovch2 |
T |
C |
7: 107,384,653 (GRCm39) |
D488G |
probably damaging |
Het |
| Rfx6 |
A |
T |
10: 51,569,833 (GRCm39) |
Y202F |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Usp4 |
T |
A |
9: 108,249,765 (GRCm39) |
V431E |
probably damaging |
Het |
| Vil1 |
A |
G |
1: 74,466,717 (GRCm39) |
I636V |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,606,162 (GRCm39) |
N358S |
possibly damaging |
Het |
| Wdr47 |
T |
A |
3: 108,534,615 (GRCm39) |
N511K |
probably benign |
Het |
| Wdr5 |
T |
A |
2: 27,421,683 (GRCm39) |
F222I |
probably damaging |
Het |
|
| Other mutations in Atg101 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01621:Atg101
|
APN |
15 |
101,184,976 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02056:Atg101
|
APN |
15 |
101,188,218 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03237:Atg101
|
APN |
15 |
101,185,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2096:Atg101
|
UTSW |
15 |
101,188,382 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4622:Atg101
|
UTSW |
15 |
101,191,213 (GRCm39) |
unclassified |
probably benign |
|
|
R6159:Atg101
|
UTSW |
15 |
101,188,519 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6414:Atg101
|
UTSW |
15 |
101,188,341 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8511:Atg101
|
UTSW |
15 |
101,188,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9644:Atg101
|
UTSW |
15 |
101,188,447 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATCACAAGTCCTCCTCTAGGTC -3'
(R):5'- CGTGTCAAACACGTTGTCCACCTC -3'
Sequencing Primer
(F):5'- AAGTCCTCCTCTAGGTCTGTCTG -3'
(R):5'- CGATGTTAATGATCTTCTCGCACAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation