Incidental Mutation 'IGL01316:Dram2'
| ID |
73847 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dram2
|
| Ensembl Gene |
ENSMUSG00000027900 |
| Gene Name |
DNA-damage regulated autophagy modulator 2 |
| Synonyms |
2610318G18Rik, Tmem77, 2010305N14Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01316
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
106455114-106482657 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106480296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 116
(V116E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029507]
[ENSMUST00000067630]
[ENSMUST00000121034]
[ENSMUST00000132923]
[ENSMUST00000151465]
|
| AlphaFold |
Q9CR48 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029507
AA Change: V116E
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029507
Gene: ENSMUSG00000027900
AA Change: V116E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Frag1
|
7 |
120 |
2.6e-30 |
PFAM |
|
transmembrane domain
|
121 |
140 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067630
AA Change: V203E
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000063510
Gene: ENSMUSG00000027900
AA Change: V203E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Frag1
|
7 |
233 |
1.3e-55 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121034
AA Change: V203E
PolyPhen 2
Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112680
Gene: ENSMUSG00000027900
AA Change: V203E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Frag1
|
7 |
233 |
7.5e-54 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132923
|
| SMART Domains |
Protein: ENSMUSP00000118686
Gene: ENSMUSG00000027900
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Frag1
|
7 |
165 |
3.1e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151465
|
| SMART Domains |
Protein: ENSMUSP00000117078
Gene: ENSMUSG00000027900
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Frag1
|
7 |
144 |
1.5e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197233
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,935,404 (GRCm39) |
V326A |
probably damaging |
Het |
| Aldh1l1 |
A |
G |
6: 90,575,362 (GRCm39) |
D883G |
probably damaging |
Het |
| Ankk1 |
A |
G |
9: 49,331,784 (GRCm39) |
|
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,046,702 (GRCm39) |
V1796A |
probably benign |
Het |
| Ccdc186 |
A |
C |
19: 56,801,845 (GRCm39) |
C91G |
probably benign |
Het |
| Clec5a |
T |
C |
6: 40,559,196 (GRCm39) |
T63A |
probably benign |
Het |
| Cyp3a11 |
T |
A |
5: 145,791,961 (GRCm39) |
K477N |
possibly damaging |
Het |
| Eps15l1 |
A |
T |
8: 73,143,258 (GRCm39) |
F184L |
possibly damaging |
Het |
| Greb1 |
T |
A |
12: 16,748,587 (GRCm39) |
H1102L |
probably benign |
Het |
| Inpp5f |
G |
A |
7: 128,292,430 (GRCm39) |
|
probably benign |
Het |
| Kcng1 |
T |
C |
2: 168,110,960 (GRCm39) |
N68S |
probably damaging |
Het |
| Klhl41 |
A |
G |
2: 69,505,068 (GRCm39) |
D457G |
probably benign |
Het |
| Krt1c |
T |
C |
15: 101,719,646 (GRCm39) |
R675G |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,900,846 (GRCm39) |
V2200D |
probably damaging |
Het |
| Mme |
T |
A |
3: 63,247,580 (GRCm39) |
|
probably benign |
Het |
| Nexn |
A |
T |
3: 151,952,870 (GRCm39) |
F283L |
probably benign |
Het |
| Noxa1 |
T |
C |
2: 24,976,023 (GRCm39) |
D389G |
probably benign |
Het |
| Or2n1c |
A |
G |
17: 38,519,388 (GRCm39) |
N84S |
probably damaging |
Het |
| Or7g21 |
A |
G |
9: 19,032,718 (GRCm39) |
I156V |
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,420,500 (GRCm39) |
|
probably benign |
Het |
| Pirt |
T |
C |
11: 66,816,772 (GRCm39) |
S28P |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,963,975 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,758,791 (GRCm39) |
T478A |
probably benign |
Het |
| Secisbp2 |
T |
C |
13: 51,808,552 (GRCm39) |
S106P |
probably benign |
Het |
| Shroom1 |
C |
T |
11: 53,356,385 (GRCm39) |
A416V |
probably damaging |
Het |
| Ski |
C |
T |
4: 155,306,143 (GRCm39) |
A279T |
probably damaging |
Het |
| Stxbp4 |
A |
G |
11: 90,512,475 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
A |
G |
10: 7,800,468 (GRCm39) |
V28A |
probably damaging |
Het |
| Tmem126a |
G |
A |
7: 90,101,927 (GRCm39) |
P91S |
probably damaging |
Het |
| Ucma |
T |
C |
2: 4,986,042 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dram2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01316:Dram2
|
APN |
3 |
106,478,950 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01519:Dram2
|
APN |
3 |
106,478,945 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01783:Dram2
|
APN |
3 |
106,480,972 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02141:Dram2
|
APN |
3 |
106,479,012 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03153:Dram2
|
APN |
3 |
106,462,490 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03047:Dram2
|
UTSW |
3 |
106,480,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0045:Dram2
|
UTSW |
3 |
106,478,133 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0045:Dram2
|
UTSW |
3 |
106,478,133 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0400:Dram2
|
UTSW |
3 |
106,480,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1432:Dram2
|
UTSW |
3 |
106,478,082 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2130:Dram2
|
UTSW |
3 |
106,478,076 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4361:Dram2
|
UTSW |
3 |
106,473,531 (GRCm39) |
intron |
probably benign |
|
|
R4771:Dram2
|
UTSW |
3 |
106,480,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4781:Dram2
|
UTSW |
3 |
106,478,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7230:Dram2
|
UTSW |
3 |
106,480,294 (GRCm39) |
nonsense |
probably null |
|
|
R7441:Dram2
|
UTSW |
3 |
106,462,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7464:Dram2
|
UTSW |
3 |
106,480,999 (GRCm39) |
makesense |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation