Incidental Mutation 'IGL00593:Trmo'
| ID |
8489 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Trmo
|
| Ensembl Gene |
ENSMUSG00000028331 |
| Gene Name |
tRNA methyltransferase O |
| Synonyms |
5830415F09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00593
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
46376505-46389437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46382490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 209
(V209A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119785
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030015]
[ENSMUST00000086563]
[ENSMUST00000151903]
|
| AlphaFold |
Q562D6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030015
AA Change: V202A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030015
Gene: ENSMUSG00000028331
AA Change: V202A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0066
|
42 |
165 |
2.3e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086563
AA Change: V202A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000083752
Gene: ENSMUSG00000028331
AA Change: V202A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0066
|
44 |
164 |
1.2e-46 |
PFAM |
|
low complexity region
|
431 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
456 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151903
AA Change: V209A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119785
Gene: ENSMUSG00000028331
AA Change: V209A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0066
|
49 |
172 |
4.1e-45 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 15 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr2 |
A |
T |
X: 21,352,719 (GRCm39) |
K118* |
probably null |
Het |
| Akap14 |
A |
T |
X: 36,414,484 (GRCm39) |
H525Q |
possibly damaging |
Het |
| Crb1 |
T |
C |
1: 139,250,983 (GRCm39) |
I323V |
probably benign |
Het |
| H60b |
T |
C |
10: 22,162,962 (GRCm39) |
I179T |
possibly damaging |
Het |
| Krt34 |
A |
G |
11: 99,929,520 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
T |
C |
1: 162,873,350 (GRCm39) |
N541D |
possibly damaging |
Het |
| Plxnb1 |
A |
T |
9: 108,942,936 (GRCm39) |
I1841F |
probably benign |
Het |
| Ppp4r3b |
A |
G |
11: 29,147,205 (GRCm39) |
D3G |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,415,626 (GRCm39) |
T1829A |
possibly damaging |
Het |
| Ssx2ip |
T |
C |
3: 146,142,307 (GRCm39) |
F468L |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,053,173 (GRCm39) |
E1301G |
probably damaging |
Het |
| Tpd52l2 |
A |
T |
2: 181,141,689 (GRCm39) |
D24V |
probably damaging |
Het |
| Zfp141 |
A |
T |
7: 42,124,731 (GRCm39) |
C580* |
probably null |
Het |
| Zfp422 |
C |
A |
6: 116,603,919 (GRCm39) |
A27S |
probably benign |
Het |
| Zfp786 |
A |
T |
6: 47,796,605 (GRCm39) |
*778R |
probably null |
Het |
|
| Other mutations in Trmo |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01296:Trmo
|
APN |
4 |
46,387,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01308:Trmo
|
APN |
4 |
46,377,053 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01544:Trmo
|
APN |
4 |
46,386,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01545:Trmo
|
APN |
4 |
46,386,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01722:Trmo
|
APN |
4 |
46,386,092 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02085:Trmo
|
APN |
4 |
46,380,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02927:Trmo
|
APN |
4 |
46,387,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0645:Trmo
|
UTSW |
4 |
46,377,083 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0745:Trmo
|
UTSW |
4 |
46,382,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1365:Trmo
|
UTSW |
4 |
46,380,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Trmo
|
UTSW |
4 |
46,380,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3928:Trmo
|
UTSW |
4 |
46,382,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3929:Trmo
|
UTSW |
4 |
46,382,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4497:Trmo
|
UTSW |
4 |
46,382,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4938:Trmo
|
UTSW |
4 |
46,382,388 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4980:Trmo
|
UTSW |
4 |
46,389,364 (GRCm39) |
nonsense |
probably null |
|
|
R5209:Trmo
|
UTSW |
4 |
46,387,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5639:Trmo
|
UTSW |
4 |
46,382,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5855:Trmo
|
UTSW |
4 |
46,382,568 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6151:Trmo
|
UTSW |
4 |
46,389,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7351:Trmo
|
UTSW |
4 |
46,387,716 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8684:Trmo
|
UTSW |
4 |
46,386,253 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8684:Trmo
|
UTSW |
4 |
46,386,251 (GRCm39) |
nonsense |
probably null |
|
|
R8823:Trmo
|
UTSW |
4 |
46,382,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:Trmo
|
UTSW |
4 |
46,387,625 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9039:Trmo
|
UTSW |
4 |
46,382,322 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9331:Trmo
|
UTSW |
4 |
46,387,642 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Posted On |
2012-12-06 |
Incidental Mutation